Wednesday, December 23, 2009

Grief: an unlikely friend


This post is dedicated to Erika at The Flight of our Hummingbird.

When my son with disabilities was younger, I often felt a failure because I still grieved for him. Why did I feel sad, mad, guilty and anxious – when I adored my son and he brought me such delight?

Here are some of the reasons.

I couldn’t give him a clean slate in life. When I shared the joyous news of his arrival, I had to mention his suspected genetic condition, and worry about how people would react. I felt guilty that I had done something to cause his condition. I couldn’t fathom why this had happened to my son, to me, to my husband. I was terrorized when Ben choked on solids – leading to frantic 911 calls and ambulances – yet was told (incorrectly) they were isolated incidents. From age one to four he had severe, recurrent ear infections that couldn’t be treated with eight sets of tubes or antibiotics, and caused excruciating pain. He lost words, never to speak them again. The list of diagnoses he collected over the years felt like cruel blows: failure to thrive, uncoordinated swallow, dwarfism, submucous cleft palate, inability to speak, hearing loss that wasn’t properly diagnosed till age five – despite repeated hearing tests! – fine-motor problems that meant he would never write, early-onset arthritis and pain, bony growths that would have to be removed surgically and mental retardation. Whenever we were adjusting to one diagnosis, another was walloped on.

Physical and speech therapy were gruelling and didn’t result in the gains we had hoped. Ben was not the poster child for early intervention. If success was measured by his ability to reach rehab goals, I had never been so unsuccessful in my life.

Surgeries that were explained as simple, routine, didn’t go as planned (an epidural that didn’t ‘work,’ a testicle lost to infection, plastic surgery to reconstruct his ears that so failed that the resident who saw us post-surgery asked: ‘So you’re here about having his ears fixed?’).

Heartless professionals, like the surgeon who walked into a room full of residents being charmed by a babbling Ben and demanded angrily: “What is WRONG with his head?” Or the perky pediatric dentist who asked me in a pitiful voice, as I held my precious 18-month old son, in whom I was so proud: “Will he E-V-E-R walk?” “Is he short for his age?” “Is he mentally retarded? Oh, I guess you wouldn’t know that yet anyway!”

By the time Ben was a preschooler I felt I should be “over” my painful feelings and was petrified that I might never come to a place of acceptance. I sensed friends who hadn’t experienced disability in their children were tired of hearing me express my angst. Physicians said things like: “You need to face reality” – as if I could choose acceptance the way one chooses a shirt to wear that day.

I recently read an article by psychologist Ken Moses that helped me understand that the painful feelings I experienced served a purpose, and I now see them as a natural and healthy part of parenting a child with disabilities.

Dr. Moses explains how different aspects of grief – denial, anxiety, fear, guilt, depression and anger – allow us to cope in the early days, mobilize resources and support, and over the long-term to self-reflect, grapple with and redefine our values, priorities and beliefs, and change and grow as people.

I wanted to interview Dr. Moses, but couldn't locate him. In addition to being a psychologist, when his article was published in 1987 he had a child with disabilities and worked with groups of mothers of children with special needs.

Here are some relevant points I pulled.

In working with mothers he notes: “It became evident that these people were manifesting a grieving process…The impairment, not the child, irreversibly spoils a parents’ fundamental, heartfelt yearning. Disability shatters the dreams, fantasies, illusions and projections into the future that parents generate as part of their struggle to accomplish basic life missions. Recovering from such a loss depends on one’s ability to separate from the lost dream, and to generate new, more attainable dreams…Each feeling state, no matter how negative, serves a specific and helpful function.”

Dr. Moses says grief emotions provide the context for self-examination that can lead to positive change. There’s no recipe for the order in which we experience them, he says, and no “right” way to grieve.

He argues that “the concept of acceptance” as an end-product for parents “is totally unfounded. In almost 20 years of working with bereaved people, as well as dealing with my own losses, I have never seen anyone achieve acceptance of loss, only acknowledgement. Belief in the concept of acceptance leads parents into feeling like failures for not being able to attain it.”

Here are some of the positive uses Dr. Moses sites for the different emotional states of grieving:

Denial: “Denial buys the time needed to blunt the initial impact of the shattered dream, to discover the inner strengths needed to confront what has really happened, and to find the people and resources needed to deal with a crisis for which one could not be prepared.”

Anxiety: “To deal with having an impaired child, parents go through dramatic changes that affect their attitudes, priorities, values and beliefs, as well as altering day-to-day routines. Such changes require a great deal of energy. Anxiety mobilizes the energy needed to make these changes...Anxiety is the inner source of the need to act.

Fear: Fear is a warning that alarms the person to the seriousness of the internal changes that are demanded…The parents experience the terror of knowing that they will be required to change on a fundamental level, against their will, with full understanding that the process of internal change is very difficult. Significant losses produce a profound sense of abandonment and vulnerability…Fear is the medium that encourages the struggle to reattach, to love again in the face of loss.”

Guilt: “Generally, parents of impaired children express guilt in one of three ways. One way is by telling a story that explains how they are responsible for their child’s handicap. The current emphasis on the prevention of birth defects has brought many parents to feel that they caused their child’s impairment. The issue is not the logic, but the feeling of guilt. Another way that guilt is manifested is in the conviction that the child’s impairment is punishment for a past inappropriate thought, feeling or action. Lastly, guilt can be expressed through the parent’s belief that good things happen to good people…Because parents have an impaired child, they must be bad people...How can such painful explanations of tragedy be useful?...Simply by being explanations. Guilt “explains” the unexplainable. When people confront a loss, the beliefs they held regarding cause and effect, right and wrong, and their impact upon life are deeply shaken. Basically the guilt-ridden person is saying that they are accepting responsibility for everything. It feels better to do that than to believe that they have no influence on anything! Guilt, in this sense, helps one to redefine the issue of cause and responsibility in the light of loss.”

Depression: “Depression is part of normal, necessary and growth-ful grieving. As we mature, we develop and modify our definitions of the following words: competence, capability, value and potency. They are words of profound personal significance. They are the criteria that people use to decide if they are okay or not. When parents are confronted with an impaired child, whatever definitions they held for competency, capability, value and potency usually no longer apply. How does a mother feel competent when she has a retarded daughter? She can’t use the measures of her peers, like having a daughter graduate from college…What is the worth of a father who cannot 'fix' what is broken in his impaired son? A parent feels unable to act effectively (helpless), unable to imagine that things will ever get better (hopeless) and unable to believe that their lives are touched by good luck (hapless). Depression is the medium that helps parents come to new definitions of what it takes to be competent, capable, valuable and strong people, even though their child has impairments they cannot cure.”

Anger: “Parents feel anger at the harm done to their child and the shattering of their dreams…One’s internal sense of justice is severely challenged. As events occur that violate one’s sense of justice, the outrage must be expressed. Those expressions help to redefine one’s concepts of fairness and justice…and develop new beliefs...that make the world a tolerable place to live, even though terrible losses can occur.”

Dr. Moses says that expressing grief emotions deeply and fully with other parents and professionals enables parents to develop new values, priorities and beliefs that promote growth and resilience.

Thursday, December 17, 2009

For the love of Annie


When Barb Farlow learned the baby she was carrying had Trisomy 13, her decision to continue the pregnancy "was immediate and innate, and in complete contrast to what I thought I might do," says the Toronto mother and engineer. She was told the syndrome was lethal, but through online support groups met families whose children were living with Trisomy 13. "It was very important to us that she not suffer unnecessarily, but we wanted to consider any surgical treatments and make 'best-interest' decisions for her, like any parent."

Barb's daughter Annie (above) was born without the brain and heart defects common in Trisomy 13, but died at 80 days in 2005 after being rushed to a children's hospital in respiratory distress. Following her death, Barb acquired Annie's medical records and learned a "not for intubation" order had been written without consent. “This discovery was like the first domino in a long line of questionable events that left us unclear as to whether our daughter’s death was preventable.” Determined to change what she believes is systemic discrimination against treating children with certain genetic conditions, Barb shares Annie’s story at health-care conferences and ethics talks, with medical and law students, in medical journals and through her work with Patients for Patient Safety Canada.

Me: When did you learn Annie had Trisomy 13?
Barb Farlow: After the 22-week ultrasound, the geneticist said "this is Trisomy 13, 18, or something equally lethal." We were told she would likely die before birth or in the delivery room. Initially, the research we did suggested these babies were ‘incompatible with life.’ We were confused because it seemed that many of the anomalies they had could be fixed. When I was six months pregnant we found Living with Trisomy 13, a web site for families. We came to know many living children and their families and discovered these children were very special and loved, that some did benefit from medical intervention, and that while the experience was challenging, it was life-changing for the families.

Me: How did you decide to continue with the pregnancy?

Barb Farlow: It wasn't a process, it was immediate. By the time of the diagnosis, I had grown to love my baby and felt very protective of her. I realized the odds were against her even coming to term, but it didn't mean I would take steps to end her life. The geneticist said “We don’t do surgery on these kids” and an obstetrician later told us: “You don’t crack the chest open for these little kiddies.” That prompted us to meet with staff from three departments at the children's hospital to ensure that if Annie needed life-saving surgery, she would be eligible for it. We were told she’d be treated like any other child. We knew surgery might not be indicated for her – that it might be too burdensome or not in her best interest, but we didn’t want the door closed on account of her genetic condition or disability. We wanted full information about the benefits and risks of any treatments so we could make good choices.

Me: What were your hopes and dreams for Annie?

Barb Farlow: We wanted her to have a chance. We wanted her to survive as desperately as any parent wants their child to survive. We were well aware of the disabilities and challenges she would have. My husband had taken an indefinite leave from work so that we could both devote ourselves to Annie and our other children. We wanted Annie to have comfort and happiness and we knew that through loving her we were going to learn so much. With Annie, we took nothing for granted and lived each day to the fullest. One clear, hot night, when everyone was asleep, we took Annie outside and looked at the stars together. We viewed life differently when Annie was born. Her first smile was like magic.

Me: How was Annie affected by Trisomy 13?
Barb Farlow: When she was born, we learned she didn't have the brain defect or the major cardiac condition they predicted. She was seven pounds, with Apgar scores of eight and nine out of 10, which was amazing. We were more shocked than anybody. She wasn't blind or deaf, which was a possibility, and she didn't have any major structural deformities in her organs. As we were rejoicing about how well Annie was doing, a medical fellow asked my husband: "Do you really want to treat this child? She's going to have these disabilities." He suggested she shouldn’t be treated, irrespective of her physical status. It was like a slap in the face. Annie was treated in hospital for six weeks for low blood sugar and received excellent supportive care at that time.

Me: How did Annie die?

Barb Farlow: We only recently received the medical certificate of death and it lists respiratory distress that began one month prior to her death. When we took her to the outpatient clinic two days before she died – because she was having trouble breathing and her face was beet red – we were told it might get better on its own and sent home with no tests and no measure of comfort for her distress. Earlier on, a pulmonologist had suspected she had a tracheal disorder, but she was never tested for it. When she was rushed to hospital in acute distress for a tracheal assessment, we were told her trachea was fine, but she had pneumonia. She didn’t. We later learned that throughout her life, doctor after doctor ignored critical indications of impending respiratory failure. Meanwhile, we were led to believe that Annie was receiving full care.

Me: How are children with serious genetic conditions viewed in our culture?

Barb Farlow: Especially with the financial challenges in our health system, I think there's an element of anger similar to how some people feel when a person is obese or a smoker and needs expensive medical treatment. There's the perception: "This is a choice, a life choice, we have ways of preventing these things." I think there are many in health care who see these children this way – as something we can avoid and have the ability to avoid. There's a perception that if a child isn't perfect, it's cruel to bring them into the world. It's expected that the vast majority of women are having testing and will terminate for these conditions. I think it's a challenge for health-care providers to have compassion and see value in our children when it's a road they wouldn't have taken themselves. Especially when there are limited resources and they're already short of NICU beds.

Me: What about in the community at large? Did you feel supported as a mother who chose not to terminate a child with a genetic condition?

Barb Farlow: I had a sense that most of our friends and neighbours wouldn't understand our choice, so during the pregnancy I confided in only a few close friends. It's unfortunate, because a person needs a lot of support at that time, but the support doesn't exist. When you terminate in our system, you're given a gift package – with hand-knit booties, a swaddling blanket and a kit for making footprints. There are support groups and psychological counselling and it's all there to help you go in that direction. If you choose not to terminate, you're on your own, with some of your friends and relatives thinking you're crazy.

Me: How has the rise of prenatal testing influenced public perceptions about children with genetic conditions?

Barb Farlow: I believe it creates the perception that we have a cure for these conditions. There’s a sense of “I’ve done all my prenatal screening and testing, I have a right to a perfect baby.” I’ve heard from genetic counsellors that more women are terminating for less serious conditions like cleft lip and palate, or club feet. I think we need to review whether the training doctors receive allows them to counsel in a neutral and balanced way. I found an educational presentation online created by Ontario’s Fetal Alert Network that included a photo of a stillborn child with a severe deformity related to Trisomy 13 placed next to a picture of a one-eyed Cyclops from Greek mythology. This was a terribly dehumanizing picture. When a family doctor has a patient whose fetus has been diagnosed with Trisomy 13, what picture will come to his mind? Annie had an extra finger on both of her hands. But she wasn’t less human.

Me: You’ve spent the last three years sharing Annie’s story across North America and further afield. What do you hope to achieve?

Barb Farlow: I hope I’ve opened the eyes of health-care providers to how a family makes decisions and how they feel. I hope I’ve held a mirror to them to reveal how their actions or inactions were perceived by a family. I think there’s a group-think approach in health care to issues related to disability. Everybody does what everybody else is doing and no one thinks for themselves. I believe a lot of denials of care are tacit and “let’s all do this because we think everyone is doing this" and based on the assumption: "These kids are hopeless and no one wants them.” I hope I’ve changed that, and allowed providers to start thinking about things in a different way, so they can stand up and speak for what they believe is right.

We know that our decision was not a common one, but we believe parental involvement and consent in treatment decisions are critical. I think there should be a requirement that children with complex conditions have a clear treatment plan documented in their file that includes the parents’ values and wishes. The issue is consent, and if the line is crossed now, on this genetic condition, what other conditions will be crossed? Down syndrome is also a genetic condition in every gene, and we don’t call it lethal. Sometimes children with Down syndrome have things that need to be fixed, and we fix them.

Me: What advice would you give a parent who’s chosen to bring a baby prenatally diagnosed with a genetic condition to term?

Barb Farlow: Number one would be communication. It’s important that the doctors know you’re aware of the challenges of the medical condition, that you’re realistic and realize you might have to make difficult decisions. Emphasize that you want to make decisions based on medical reasons and not quality-of-life reasons, that you’ve accepted the disability. It’s helpful if you connect with other families of children with similar disabilities prenatally, so you can say you’re aware of what you’re getting into and you’ve made the commitment.

Ask a lot of questions about tests and their outcomes and continually restate your position regarding the level of care you want. You may be afraid to ask questions because you’re afraid of the answers. It’s natural, as a parent, to be afraid of bad news. But you must ask anyway. After Annie’s death I was asked by the chief of a hospital department why I didn’t challenge the doctor at the outpatient clinic we took her to when her face was beet red and he sent us home. I wouldn’t have dreamed of challenging a doctor at that point. We trusted them.

At the international level, groups for Trisomy 13 are trying to get a short medical primer developed that lists the various associated conditions and treatments so that parents can speak intelligently about the issues with their doctor. Connecting with other families prior to your child’s birth is a very important way to get educated.

Click here to read an overview of Annie's story.

Thursday, December 10, 2009

Sweet dreams


I recently heard about a family with two children with disabilities. Dad sleeps with his son with autism in one room, and mom sleeps with the child with a physical disability in another room.

Sleeping with a child past the time considered normal is part of life for some families of children with disabilities – for a number of medical, behavioural and developmental reasons – although it’s rarely talked about.

Maybe your child has seizures or another life-threatening condition. Maybe your child has a sleep disorder or muscle spasms that jolt her awake repeatedly. Or maybe, like me, your child has physical and developmental disabilities, and chronic pain, and you find it difficult to be hard-nosed about who sleeps where when he slips into your bed in the middle of the night.

My son is 15 and the size of a five-year-old. He has frequent joint pain and can’t speak, and his ability to use sign language doesn’t match what goes on in his head. He can’t fully express what he’s feeling. He can’t tell me everything that’s going on.

So when he brings a book to my bed to fall asleep at bedtime (and is later carried to his bed by his Dad), or slips into our king-size bed after sleeping a few hours in his room, my first instinct is that I want to provide comfort to a boy whose everyday life is hard.

At the back of my mind, critical thoughts may jostle for attention: “He’s 15-years-old. It’s not appropriate that he sleep in your bed. Your job as a parent is to create independence. What will you do when he’s an adult?”

But they usually fall away quickly because my primary goal is that he feel safe, secure and sufficiently relaxed to sleep.

It’s not every night that this happens. But it can be a few times each week. Or sometimes it goes in spells, where he’ll sleep well in his own bed for weeks at a time.

Am I wrong?

Wednesday, December 2, 2009

The politics of funding


I was putting together the science roundup for the December issue of BLOOM magazine and couldn’t help noticing that six of eight recently published research studies about childhood disability focused on autism.

Given autism affects one in every 150 children, it wasn’t surprising that a large chunk of research dollars would be invested in treating this disorder. But I wondered whether funding to develop treatments for, or improve quality of life in, other conditions reflected how commonly they occurred in children.

I recalled a fascinating fact sheet from the Cerebral Palsy International Research Foundation (CPIRF) earlier this year that compared the prevalence of well-known childhood disorders with the amount of research funding they received from U.S. federal government and private sources.

For example, muscular dystrophy affects one in 8,000 children but received $47 million in federal funding this year. Cerebral palsy affects one in 278, but received only $16 million. Autism, at one in 150, received $105 million.

On the private side, muscular dystrophy research drew $310 million, autism $15 million and cerebral palsy $2 million.

I asked Dr. Mindy Aisen, medical director of the CPIRF, to explain the disparity.

“It’s a matter of access to media and funds for lobbying politicians,” Dr. Aisen said. “At the end of the day, research funding does not equate to prevalence. It’s political, and politics is influenced by the media and lobbying. Cerebral palsy is terribly underfunded proportional to its enormous prevalence – which has gone up dramatically in the last decade as a result of the rise in multiple births associated with fertility treatments and our ability to save premature babies.”

Dr. Aisen noted that Jerry Lewis was a media champion for muscular dystrophy research and “autism exploded on the scene with a huge media campaign by Autism Speaks. They’ve done a phenomenal job of making autism a political issue and God bless them.”

Unfortunately, cerebral palsy doesn’t have high-profile celebrities to take its message to the masses and the CPIRF board chooses to put its money into research rather than lobbying.

Dr. Aisen noted that raising research dollars for autism may better capture the public’s imagination because it’s a disability that isn’t apparent at birth. “Children with autism start out looking great and everyone has the expectation that this delicious toddler will be totally functional – and then at age three parents lose that hope. With cerebral palsy, problems are usually apparent from the beginning. There’s still a huge stigma attached to physical impairment. People see a wheelchair and look away – especially if it’s a child in a wheelchair.”

The marketing of high-functioning autism and Asperger’s is also reflected in the recent spate of movie characters with the conditions. “There’s something very appealing about children who are extremely intelligent, mathematical and computer savvy and the sense that if only we could overcome this problem, they could contribute so much.”

Disparity in research funding also exists between disabling childhood and adult conditions. “In large part children’s conditions are far less well funded than any adult condition,” Dr. Aisen says. “Children don’t have a voice. In the end, people fight for what’s most relevant to them.”

That may explain the explosion of stem-cell research funding for end-of-life conditions like Parkinson’s, Alzheimer’s and stroke, but the lack of a single stem-cell clinical trial for the treatment of cerebral palsy. “Imagine how stem cells might be even more powerful in the highly plastic brain of a baby,” she says. “The lack of stem-cell research for cerebral palsy is mind-boggling.”

Dr. Aisen says we’ve never been closer to scientific discoveries that can benefit children with cerebral palsy. “We have such powerful pilot data and ideas and research talent, we just don’t have the funding for clinical trials.”

Constraint-induced movement therapy (CIMT) – based on the premise that new motor pathways can be laid if a child with one-sided weakness is motivated to use the weak limb by casting the strong one and developing engaging virtual-reality and robotic applications that give the weak side a repeated workout – shows great promise, she says.

“We have the technologies and techniques that we know make an impact and if we just had a bit more research we could really explore how much, when, and what combination of things works best. The National Institutes of Health and National Institute of Neurological Disorders have supported work into CIMT, but it hasn’t reached level-one evidence, which means double-blind, randomized control trials, which are expensive. No one is funding those studies. We need level-one evidence to convince policy-makers and insurers so that this therapy is offered in schools and paid for by Medicaid.”

Dr. Aisen says research into autism and cerebral palsy takes place in unnecessary silos. “We have two major developmental disorders of the brain that have overlaps. Many with autism have seizures and motor disorders (tics, lack of coordination and decreased muscle tone) and a meaningful number of people with cerebral palsy have symptoms that place them on the autism spectrum. We need to talk and exchange techniques and technologies and leverage resources.”

Other childhood disabilities face different funding challenges. Parents of children with Down syndrome worry that if cases continue to decline as a result of better prenatal diagnostic tools and higher abortion rates, funding to study the condition will dry up.

And then there are rare conditions – like that of my son Ben. When he was born, there were only 60 reported cases of Langer-Giedion syndrome in the world. Rare syndromes have no political leverage unless their study can be shown to shed light on more common diseases. For example, one of two genes deleted in Langer-Giedion syndrome is a tumour suppressor – which has made it of interest to cancer researchers.

Tuesday, November 24, 2009

If you could read my mind


Parents of children who can’t speak or gesture understand why a device that decodes likes and dislikes by measuring brain activity ranks as one of the 25 Ideas That Are Changing the World in a Toronto Life Magazine feature this December.

Idea number eight is an optical brain imaging system developed at Bloorview that decodes preference – with the ultimate goal of opening the world of choice to children who can’t speak or move.

Wearing a headband (see photo above) fitted with fibre-optics that emit light into the pre-frontal cortex of the brain, adults were shown two drinks on a computer monitor, one after the other, and asked to make a mental decision about which they liked more.

“When your brain is active, the oxygen in your blood increases and depending on the concentration, it absorbs more or less light,” says Sheena Luu, the PhD student who led the Bloorview study under the supervision of biomedical engineer Tom Chau.

After teaching the computer to recognize the unique pattern of brain activity associated with preference for each subject, Luu accurately predicted which drink the participants liked best 80 per cent of the time.

The work was published in the Journal of Neural Engineering in February and is groundbreaking because preference was detected naturally – from spontaneous thoughts – without training the user.

Most brain-computer interfaces require users to do an unrelated mental task – such as figuring out a math equation or singing a song – to indicate a response such as yes. This can be challenging for a child who doesn’t understand cause and effect or for people with developmental disabilities.

I had a fascinating opportunity to see the latest progress with the infrared brain imaging system last Friday.

Ka Lun Tam, a research engineer in Chau’s lab, demonstrated how thoughts can be used to express intention or activate a switch that controls a computer or communication or household device.

He donned the fibre-optic headband, with a spray of a dozen red and yellow cables cascading down his body. Yellow lines emit light into parts of the brain activated during singing. Red ones detect the amount of light that bounces back.

Then Tam played a computer matching game. Two photos at a time were presented on the screen – things like a cyclist and a swimmer. Sometimes the photos were the same, sometimes different. If the photos matched, Tam sung a fast-paced song in his head. He chose “I want you” by Savage Garden because of its frenetic beat.

When the photos didn’t match, he let his mind go blank.

In the bottom left of the screen, a circle appeared in green or red – green indicated a photo match was detected by Tam’s thoughts and red the opposite. The circles grew from small to large, depending on the strength of the signal.

How did the system know Tam was indicating a match? Singing gave certain parts of his brain a workout, causing oxygenated blood to flood those vessels and absorb more of the infra-red light.

The circles act as feedback for the user, indicating that mental singing – or silence – is triggering the signals.

Tam is still getting used to the system and says that while some days it’s bang on, other times it doesn’t read his mind correctly.

The quick response of the circle – indicating whether or not there’s a match – is surprising, Chau says. “The blood-flow response is slow. It takes about 10 seconds to evolve. So we’re pleasantly surprised that we can generate a channel signal in a couple of seconds. That means the system is detecting a change in blood flow before the entire response.”

Chau says the team will explore other mental tasks that can generate responses. “For example, maybe it’s a child thinking about their pet or a TV show they like.”

While the research is in its early stages, Chau envisions a portable system in future using a forehead sticker with light sensors.

The research is part of Chau’s body-talk research, which aims to give children who are “locked in” by disability a way to express themselves through subtle physiological processes like breathing pattern, skin temperature, heart rate and brain activity.

Thursday, November 19, 2009

In the trenches


Mothers of teens and adults with autism are as stressed out as combat soldiers, according to a study published in The Journal of Autism and Developmental Disorders and reported yesterday on the New York Times Motherlode blog.

Researchers followed a group of mothers and their children for eight days, interviewing moms at the end of each day and on four days measuring hormone levels associated with stress. They found the level of chronic stress experienced by these mothers was similar to that of combat soldiers. And the greater the child’s behaviour problems, the worse the mother’s stress.

My son doesn’t have autism, but I have to admit to feeling “in the trenches” this morning when I got a phone call from his school. Ben is in a class for kids who are deaf and hard of hearing in a high school for students with mild intellectual disability.

It was the principal, asking if Ben had mentioned anything last night about an incident that happened at school yesterday. He hadn’t.

Apparently the class and a few staff went to the park at the end of the day. Ben reached down and picked up a cigarette butt. I’m not sure if he did put it to his lips, or was going to, but one of the support staff was angry enough to drag him across the playground and push him into his wheelchair.

Two other staff reported that person to the principal and she was sent home when she arrived at work this morning. Then the police were called and a report was filed.

I was asked by the police to look for bruises or scratches on Ben tonight (I hadn’t noticed any last night, but I wasn’t really looking).

I couldn’t imagine which of the staff had been involved because they all seemed excellent when I met them at a recent parent night.

When the police told me, I could only picture a warm, energetic, motivated woman I thought was absolutely delightful.

I felt horrible for Ben and how he must have felt. I felt badly that he hadn’t tried to tell us what had happened, or perhaps he felt he couldn’t. I wondered if perhaps the situation was overblown. And I couldn’t help feeling sad and sorry for the staff person involved, who I imagined was sitting at home feeling as terrible as I was.

And then I couldn’t help feeling like I wished this wasn’t happening to us, wasn’t something we had to deal with. I couldn't help feeling shame. I knew my son was a challenge, but was he that impossible?

My hands shook and my chest ached. There I was, in the trenches.

Friday, November 13, 2009

My son's riches



I call them angels.

Exceptional people who have been drawn to work with my son Ben and who have surpassed all expectations.

There’s a long line of workers. ‘Worker’ is a misnomer and inadequate to describe those who have been teachers, visionaries, therapists and coaches in their own right.

There was Kathleen, a bouncy, bubbly young woman who spent six years with Ben – transforming herself into a speech therapy, technology, sign language, literacy and inclusion expert. Kathleen accompanied us on our trips to the U.S. to see specialists and was Ben’s special needs ‘assistant’ (another misnomer) at school. Kathleen thought the world of Ben, and we thought the world of her. She went back to university to become what she had always been – a teacher.

There was Coco, a blind-deaf intervener who became our sign-language instructor and went into Ben’s school to teach the other kids sign because the school board would not. Over the years, Coco became a loved member of our family and our children’s legal guardian. Last summer, she returned from her new home in the Dominican Republic to take Ben to his first overnight camp (see photo above), a true breakthrough.

There was John, a brilliant math professor who volunteered to do math with Ben. John had written a book about making math accessible to all children. He taught Ben fractions and Ben wanted to work for him. Nothing made me happier than telling Ben: “The math professor says you’re smart.”

And the list goes on.

Whenever I am feeling down about Ben’s challenges or lack of friends, I think about how one boy was able to attract these human jewels, like a magnet, and make them shine.

Who are the angels in your child’s life?

Wednesday, November 4, 2009

A cross-country quest for therapy


In 2006, Stacey and Jonathan H. uprooted their family from Ontario – where they had family and friends and Jonathan worked as a teacher – to Calgary, a province Stacey had never visited. The year before, their twins Will and Owen, 2, were diagnosed with severe autism and they were still on a wait list for publicly-funded applied behaviour analysis (ABA) therapy. The family moved west in the hopes of getting co-ordinated, provincially funded ABA intervention, and other services. I interviewed Stacey (above with Owen, middle, and Will far right, now 6, Jonathan and Jake, 8, far left) about how the family made this decision, and how they’ve fared.

Me: How did autism affect the boys when they were first diagnosed?

Stacey: They were both completely lost in their own worlds, non-communicative and had unusual behaviour. Will ate rocks and picked every loose thread out of our couch until it had to be thrown out.

Me: When did you realize you couldn’t get the ABA and other supports the boys needed?

Stacey: There was a wait just to get the diagnosis. I started voicing my concerns prior to their first birthday, but they didn’t have an assessment till they were two years and four months. They were deemed eligible for early intervention, but then were put on a wait list and nothing happened. I quickly recognized I had to surround myself with other parents of children with autism. We got involved with a group of parents and that’s where we learned about families whose kids had been on the wait list till they were age six, which was the cut-off in Ontario. We learned we couldn’t expect anything in terms of funded ABA services.

Me: What did you do for ABA services?

Stacey: We paid privately for 20 hours a week of ABA. For both boys, that cost about $7,000 a month. We wanted the boys to have 40 hours a week, but that would have cost over $160,000 a year.

Me: How did the lack of funded services and the financial pressures affect your family?

Stacey: It was devastating to feel like we couldn’t meet the needs of our kids. My husband felt like he couldn’t provide financially. I felt like I was an educated person, yet I couldn’t get through a day with my own kids. Because the boys were so challenging, doors were closed everywhere – even for things like babysitting or daycare. We had to reach out to family and friends for financial help. It was terribly humbling, and also humiliating. Revealing that we were in need made people uncomfortable. We lost many, many friends, but we also gained friends we didn’t know we had.

Me: When did you first think seriously about moving to find publicly-funded services?

Stacey:
The tipping point came when a group of our friends held a giant fundraiser for the boys at a pumpkin farm. They sold tickets and had a pig roast and games and activities. Hundreds of people showed up and we raised $15,000. It was overwhelming and inspiring. But then I realized it would only cover one month of therapy and the boys would need help for the rest of their lives. It seemed a huge amount of money, but it was just a drop in the bucket. That put us into desperate panic mode to see if we could move to get funded services.

Me: How did you settle on Calgary?

Stacey: I didn’t realize at first that services were different from province to province. Then I read stories about families moving to Alberta. I made a call to a children’s hospital in Calgary and found out they were holding a resource fair for children with autism. All of the ABA service providers would be there. We couldn’t afford it, but I booked a plane.

At the fair, we were offered choices of government-funded ABA agencies that we could work with. In Ontario, we were on our own to figure things out with private providers, but in Calgary the agencies, the doctors and the government had co-ordinated their efforts to make sure everyone got the optimum program possible.

I found an agency that offered a government-funded, full-time ABA program that included half days at home and half days in a preschool, which was exactly what we wanted. The agency said that if our kids were eligible, we could sign up with them and they would help us through the process.

We moved in July, and I had a social worker in my home within a week, assessing our needs. We went before a multidisciplinary panel in August that oversees ABA services, and services for the boys began in September.

Me: Were there other differences in funded services in Alberta:

Stacey: In addition to specialized ABA services, the government puts an enormous amount of money into preschool funding for all children with special needs, so you can access preschool programs run by people who know how to work with our children. We were also automatically eligible for family support services, which included expensed funding for community, behaviour and respite workers. We even received funding so that our older son, who had had a hard time with the move, could receive counselling. Any extraordinary costs can be reimbursed.

Me: Why do you think there's a strong commitment to services for children with autism in Alberta?

Stacey: There’s a different mindset here. Early intervention is believed to be a right of children, and that if you intervene early, there won’t be such a financial burden on the province in later years. The other huge difference is the co-ordination of services. For example, when I met the social worker a week after we arrived, she immediately connected us with a pediatrician and a feeding clinic. All of the players here work together.

Me: What was the greatest challenge in moving your family?

Stacey: The biggest problem was leaving family and friends. They had not only supported us, but been a tremendous support to the boys. The likelihood of the boys forming their own support system in Alberta was slim, but at least in Ontario they had that built-in core group of family and friends that loved them.

The other major challenge was financial. As a teacher, my husband wasn’t going to make more money in Alberta, but the cost-of-living is higher. We sold our house in Ontario for $140,000 and had to buy a house that cost almost half a million dollars. We traded one expense for another, but at the end of the day we got the services for the boys we never thought we’d have.

Me: How has the move benefitted the boys?

Stacey: In every way. They don’t have parents who are living in constant stress. It eased the tone in our household. We’ll always have stress, but not the same kind of desperation, when you have no options.

In terms of intervention, I don’t like looking back to consider what their lives would have been if they didn’t have therapy. Four years ago, I had boys who wouldn’t look at me, who wouldn’t let me touch and hold them. Today I have little boys with challenges. Will and Owen have personalities, they experience emotion and they experience life with us and their brother.

Me: What is the situation like now for families considering a move to Alberta for services?

Stacey: We came at the perfect time, but in the last three years, so many people have moved here that the caseload has increased hugely. If you go to a meeting here for parents of kids with autism, half of them have come from Saskatchewan, British Columbia and Ontario. The numbers are so great that Alberta seems to be becoming pickier with their intake process. If your child is high-functioning, you may not qualify for specialized ABA services. Each family has to assess their own individual situation to figure out what’s best for them.

Stacey writes a blog about her boys at Willowjak – "our family of five, with autism times two." Willowjak combines the names of her sons Will and Owen, now 6 who have autism, and Jake, 8, who is typically developing.

Monday, November 2, 2009

This and that


This post is a mixed bag.

Saturday was the first night we went trick-or-treating with Ben in a wheelchair. We used to pull him around in a wagon (because he’s tiny), and he would hobble up the stairs to people’s doors or we would carry him on our backs.

But this year it made sense to use his new wheelchair, which he now uses whenever he’s out.

It was an eye-opener to realize how many homes were inaccessible, with two to three steps up to the path, and then numerous steps up to the door. Our house is probably the worst: we live on a steep hill and have about 30 steps up to our house (we bought the house when I was pregnant with Ben).

Most people didn’t come out of their homes to hand out candy. They waited until the kids got up to the door and knocked. So there were at least a couple of streets where we were forced to roll by every single house, without stopping, because we couldn’t make it to the door.

I’ve always thought of our neighbourhood as being welcoming and friendly. But it’s not from a wheelchair.

Check out this new web site about Fragile X, developed by a non-profit group of parents and professionals called the Fragile X Research Foundation of Canada. The group says this most common cause of inherited developmental disability lacks awareness and research funding. I hope we can interview one of the parents in the future.

And this new collection of stories by parents of children with disabilities looks promising: My baby rides the short bus: The unabashedly human experience of raising children with disabilities. It includes a piece by our guest blogger Elizabeth Aquino.

Friday, October 30, 2009

My boy, the ladybug


Last night I spent four hours sewing black fleece spots on a red tuxedo jacket with tails.

Halloween is my son Ben’s favourite holiday of the year. Weeks before, he begins asking everyone, in sign, what they’re going “to be.” You’d think that after all these years I’d be proactive and have his costume ready months in advance.

Instead, I wait till the night before. First I race around the large local thrift store, looking for a bargain. But as time runs out, I inevitably end up in the most expensive costume store.

Ben has been “thinking” about what he wants to be for weeks. He finally settled on a ladybug, like Francis, the aggressive male ladybug in the movie A Bug’s Life who’s frustrated that everyone mistakes him for a female.

Yes, it’s unusual that a 15-year-old boy wants to be a ladybug, but my son is one-of-a-kind.

Like the mother who wrote in the New York Times Motherlode blog this week When a boy wants a tutu, I wondered if I should steer Ben toward a more boy-appropriate costume.

“What about a cockroach?” I asked eagerly, knowing he had his heart set on being a bug. He shook his head vehemently.

When my husband and I finally ended up at the expensive kids costume store, there was, of course, no male ladybug costume to be found. However, there was a bright red tuxedo jacket with tails – the perfect twist on a ladybug costume for my son, I thought. I could stitch the black spots on it.

The jacket was made out of cheap cotton. The price – $80 – was not cheap. We bought it and the store gave us black fleece scraps for the spots. We also bought devil’s wings (which were red and black, and could double as a ladybug’s), a black face mask and antennae with eyes at the top that flash on and off.

At home, D’Arcy cut the ladybug spots out with a razor, and I prepared to sew them on. First I grabbed the large kitchen scissors to cut the tag – which I knew Ben wouldn’t tolerate – out of the collar. I inadvertently cut a hole in the $80 jacket!

Now I not only had a dozen spots to sew on, there was a hole to fix. Did I mention that I am not Martha Stewart and we do not own a sewing machine? Luckily, I remembered a stitch my aunt taught me when I was seven and did delicate embroidery on tea-towels.

This morning, when Ben donned the costume, he was very pleased. The photos we took didn’t materialize in my inbox as planned, so I had to improvise with a Bug’s Life image of Francis above.

Happy Halloween!

Wednesday, October 28, 2009

Laughter is 'a spark of light'



Amateur comedian Lloyd Ravn (left) has raised over $3,500 for Bloorview Kids Rehab through
Laughs for Possibility, a comedy showcase he organizes that features some of Canada’s funniest people. Lloyd’s son Eric (right) has received inpatient and outpatient therapies at Bloorview, as well as attending one of our community nursery schools. In this guest blog, Lloyd explains how Eric’s journey inspired him to enter the world of comedy, and how laughter is an indispensable tool for parents of children with disabilities. I'm grateful to Lloyd for this important reminder! Louise


Laughter is ‘a spark of light’

By Lloyd Ravn


I suppose I’d always considered laughter to be important in the healing process, but hadn’t really thought much about it. Ironically, it was April Fool’s Day four years ago when the therapeutic power of humour was demonstrated to me.

I was giving a eulogy at my father’s funeral on the day that my son Eric turned seven weeks old, and I was sure I wouldn’t get through it without losing my composure.

Remembering a conversation with Dad in which he said that when his time came he didn’t want his funeral to be too serious, I opened with a joke. The tension in the church fell as everyone laughed. That chuckle let me clear my head and get to the end of my speech in one piece. It certainly didn’t take away the pain of knowing that my father wouldn’t see my son grow up, but it helped me get through the next part of my grieving process.

A few months later, my son Eric was identified as having global developmental delay. Doctors were telling my wife Jodi and I things like: “we may never find a cause for his delays” and “we can’t predict if he will ever walk or talk.” We went home to the Maritimes for Christmas, and the laughter that a visit with our family always brings helped us stay grounded so we could use our energy to help Eric with his new therapy regime, rather than focusing too much on the fear of the unknown.

In Eric’s physical and occupational therapy sessions, we pushed him to try things that were exceedingly difficult. As I cheered “you can do it” over and over, I came to the realization that if I was going to ask him to confront a difficult task, I should challenge myself to do something that I found hard. Unlike Eric, I had the luxury of choosing this task, but pushing myself in some way would help me feel a little better about working him so hard. I decided to force myself to try something I’d dreamt about since elementary school, but never really imagined I’d have the courage to do: stand-up comedy.

When I took the stage at a local ‘open-mike’ show, and the audience laughed at the material I’d written, I felt a buzz like I’d never felt before. Making a room full of people laugh was therapeutic for me, and that release once again helped clear my mind so I could get on with the important job I had: helping Eric.

I continued to perform at amateur shows and noticed that people in the audience would approach me afterwards to tell me how much they needed a laugh that night to relieve the stresses in their own life. I loved these reminders that the healing power of comedy is a two-way street: the audience’s laughter gives me the charge I need, and at the same time provides them with an important tension release.

Last year, about two years after I started comedy, Eric was progressing well with his therapies when a dream visit to the Maritimes with his mother and brand-new brother Alex turned into a nightmare. At his grandparents’ cottage in Prince Edward Island, it was clear that something was wrong with Eric. Shortly after arriving at the hospital in Charlottetown, he began to have seizures, which took several doses of medications to control. When he didn’t regain consciousness, he was airlifted to a children’s hospital in Halifax where doctors confirmed that our three-year-old child had suffered a major stroke.

I’ll never forget the moment, late at night, when the neurologist broke the news to us. Everything was suddenly blurry and out-of-focus. I didn’t know if I could deal with what he was saying. Then, as he continued explaining the situation, he found an appropriate opportunity to make a light joke. As I laughed, the fog cleared, and I felt better about facing the challenge ahead. Jodi and I have mentioned that laugh several times – agreeing that the tiny spark of light in that very dark moment helped us both move forward. We’re thankful to the doctor for it.

After that stroke, Eric had to relearn almost everything from scratch, including his gross- and fine-motor skills and expressive communication. When he was well enough to return to Toronto, he spent several months at Bloorview, first as an inpatient, and then in the day program.

Doctors are still trying to figure out a diagnosis to explain Eric’s developmental delays and strokes (plural, because in May of this year he experienced two more major strokes which have put him back at ground zero in terms of his recovery). Dealing with the unknown in Eric’s case has been extremely difficult. It makes it hard for Jodi and I to keep our minds in the present, rather than getting lost in worries about what might come.

Eric’s team at Bloorview recognizes two important things: that Eric’s recovery is dependent on the entire team, including Jodi and I, and that the whole team will benefit from, and be more successful as a result of, the therapeutic value of laughter. Every day, I see therapists, doctors, nurses and other team members sharing a laugh with the kids and families they work with, and I remember that it’s those light moments that help us all keep moving ahead.

If your child is recovering from an illness or injury or dealing with a disability, it's important that you keep those two things in mind. The way you deal with the situation will impact the way your whole family copes, and allowing yourself a little laughter therapy is sure to improve your ability to keep your mind focused on the important task at hand.

I’m not suggesting that everyone take up stand-up comedy, but that you think about what makes you laugh, and try to find opportunities to laugh a little everyday. It’s okay, even important, to laugh at a joke when you’re going through difficult times.

I think the easiest way to keep laughing is to watch and listen to our kids. Children are naturally hilarious because they don’t have the same inhibitions as adults. They’re sure to say or do something funny every day. And they love to make their parents laugh, so taking your cues from them can provide your kids some laughter therapy as well.

If you need a little more in-your-face laughter, treat yourself to an evening out at a live comedy show (there are shows happening in Toronto every night of the week – a quick internet search will help you find one that fits your sense of humour), or a funny movie, or just a few minutes with other adults sharing a laugh over a cup of coffee.

Contrary to popular belief, laughter is not inappropriate in a dark situation, it’s critical. As a parent, your family is depending on you to keep your head in the game, so take advantage of laughter’s power to do just that.

Monday, October 19, 2009

Giving Thomas a voice that's cool


In 2003, Richard Ellenson (left) convinced the City of New York to design two classrooms that would allow his son Thomas (right) and seven other children with disabilities to take part fully in kindergarten at a public Manhattan school. Thomas has cerebral palsy and doesn’t speak or walk.

A year later, frustrated by technology that didn’t support the fluid communication he wanted for his son, Richard sketched a product more in keeping with his creative instincts (he owned an ad agency at the time): it was sleek as a video console, spoke like a kid, with all the right inflections, and had a built-in digital camera.

Three years later, that napkin sketch became the Tango, a device Richard brought to market with a company he founded called Blink Twice. This past summer, Blink Twice merged with DynaVox – the world’s largest maker of augmentative and alternative communication (AAC) products – and Richard became the company’s chief vision officer.

We talked about parenting a child who is non-verbal and why he developed the Tango.

Me: How did you react when you first learned Thomas would never speak?

Richard: When he was about two years old we were at his neurologist. He looked at Tom and said “maybe this child will walk one day.” To me, I was never that athletic and that wasn’t the most important thing. “Will he be able to speak,” I asked? I’ll never forget his words: “I don’t believe speech will be his strong suit.” I talk a lot, so for me that was a very hard thing to hear. At that point in my life, I couldn’t envision other ways of communication.

Me: How did lack of speech affect Thomas?

Richard: If you can’t speak in real time, people tend to not include you in real time. To be really good friends with someone who doesn’t speak verbally, you have to learn an entirely new way of communicating, and not everyone will do that. Tom has good friends, but it’s been harder for him to make them.

Me: What are common misconceptions about children who are non-verbal?

Richard: Parts of the human spirit are universal and parts are idiosyncratic. With most people, we overstate their universality, but with the disabled we focus more than we need to on their differences. They need to prove they’re smart, prove they’re fun, prove that they understand what someone is saying. People talk slower or louder to someone who’s non-verbal and generally assume it will be more work to interact.

All of us want to find the things within us that make us special, but the challenge is more daunting to people with disabilities because others don’t take the time to engage with them. You have to be Stephen Hawking before people will sit up and take notice.

The thing I find most tragic is that we as a society have been unable to find effective inclusionary environments. We haven’t found an appropriate teaching model for children of different abilities, so students with special needs are often excluded from a general curriculum and put in a separate environment. Yet in every high school, one kid is going to go to Harvard and one is going to community college. Their experience is not so different from that of people who are typical or have special needs and yet we don’t make that distinction.

Me: Why were you motivated to design the Tango?

Richard:
The devices at the time were focused on building sentences. To a guy in advertising, that doesn’t equate to communication. Communication is a much richer notion that involves engaging someone in real time. It involves inflection, prosody, speaking in a language and a voice that people relate to, showing off a sense of coolness, being up to speed on your world. I was an advertising creative director, so unlike those with a more academic bent, I’d always focused on the fact that we’re as affected by image as we are by substance.

For me, what was really important for Tom was the ability to be fluid in communicating and to approximate a pattern that feels familiar to others – to give him a way to be engaging out of the box, to show off his charm and his cleverness, to express his needs, his wants, his likes and dislikes, as quickly as possible. Once that foundation was built, then he could focus on the task of generating sentences and growing relationships. When devices made generative language the first step, I found it was such a large step that most people fall off.

Me: What are the key features of the Tango?

Richard: I think what everyone immediately responds to is that it looks really cool, it has great voices and a built-in camera. It was really important to bring that message to the field of AAC: we need to get cooler. We need to worry not only about what the speaker thinks but what other people think – about what motivates communication. As they say, it takes two to tango.

The Tango has 4,000 phrases that were developed by observing kids and teens and adults in real conversations. Much of what we say in life is repetitive. Typical people have the rhythms of conversations in their ‘database.’ But if you’re non-verbal, most devices require you to create those phrases over and over again. That makes it much harder for others who need to wait to listen.

Me: What advice would you give a parent whose child is non-verbal?

Richard:
We all get judged before we ever speak a word, so be aware that the same thing is happening to your kid and the bar is higher. Make sure your child has visual cues around them in everything from their clothing to their toys, and that language is easily available to them on whatever communication system they use. If your child doesn’t have something with their favourite baseball team or rock band on it, people will assume they’re not interested in sports or kids activities.

If your child gestures, encourage them to use eye gestures and smiles to connect with people, so people are aware that your child is aware.

Make sure people learn to wait for your child to communicate. Let them know it’s not frustrating for your child to use technology and how much their interest means to your child. Keep it positive.

Evaluate your child’s ability to communicate. Do they use images? Can they use sentences made available to them? Can they generate sentences? Be aware of growth opportunities. You want to stay a step ahead so there’s a window where the child has variety.

Advocate for them to have more than they need – to have the best device available so they can explore and grow when they’re ready. To limit a child to low tech is often to limit their ability to find more within themselves.

But mostly, learn to respect a child’s desire to be a child. No teenager wants to talk with you. No kid wants to tell you about their day at school. Find what they’re interested in, and use that to motivate them.

Me: What changes in Tom did you see once he had the Tango?

Richard: When you have a Tango on your tray, you don’t look disabled, you look cool. Instead of “Oh, you’ve got this big device on your tray,” you’ve changed the conversation to “I’m cool” and kids respond to that. With the Tango, Tom’s expanded his magic bag of communication from a couple of gestures and words to phrases that are really intentional, to stories about his life he uses over and over – as we all do – to sound effects. People absolutely understand more of what Tom is interested in with the Tango. He’s considered one of the most popular kids in school. Tom has a lot of friends on Facebook. So someone will show up at our house and I realize Tom was on Facebook the day before e-mailing “I want to have a play date.”

Me: What was most challenging about developing the Tango?

Richard: The hardest part was walking into a field that evaluates things from an academic perspective and being someone who looks at things from a marketing perspective. The field was about building sentences, when to me it should be about your child building relationships. I saw communication in context. Why will people communicate? What will they want to listen to? How will my kid make friends?

Me: How do you feel knowing you’ve given your son a voice in this way?

Richard: It’s wonderful and humbling. I always felt it was a bit of destiny. I was an advertising person and focused on brand and perceptions, and while the AAC field had great thinkers, they weren’t always thinking about what the experience of AAC was for listeners. For me, every metric for success should be about what listeners are doing, not what speakers are doing.

Me:
What are your goals at DynaVox?

Richard:
My role is to work with the company’s many innovators to re-imagine what the world can be like when it’s full of successful AAC users. We want to build devices that provide not just communication, but the foundation for a change in perceptions. So if a person in a wheelchair with a device has a headline over their head that says ‘This is a difficult life,’ my vision is that the headline becomes: ‘This is an interesting life. This is someone who has insight and fun. This is someone worth knowing.’

Thomas and his family were the focus of a 2004 New York Times Magazine article – The Lessons of Classroom 506 – about inclusion.

Friday, October 16, 2009

No man's land


Elizabeth Aquino (left) is a Los Angeles writer and a fierce advocate for her daughter Sophie (right), who she writes about on her blog: A moon, worn as if it had been a shell. In this essay, she recalls the moment when she recognized that neurologists and science had no practical answers for treating her baby’s severe seizures. At the time, she lived in New York. The essay appeared in the Dec. 2008 online issue of Exceptional Parent Magazine. Thank you Elizabeth!
No man’s land
By Elizabeth Aquino

Fourteen years ago, when my daughter Sophie was diagnosed with a severe seizure disorder of unknown origin, I didn’t own a computer. When the doctor explained what was wrong with Sophie, I listened carefully but didn’t even take notes. I’m a smart, organized person and I trusted that she would tell me everything I needed to know.

“You shouldn’t really read anything about infantile spasms,” she advised. “It’s all very depressing.”

One day after leaving the hospital, I made my way to the Barnes and Noble on Broadway and 84th Street. It was a spectacularly new and huge bookstore and had already squeezed out the more intimate and beloved independent booksellers in my neighbourhood. But the immensity of the store, coupled with the bright lights and gleaming escalators, were reassuring. Surely I would find some answers in these slick stacks of newness.

I made my way to the children’s health section and promptly fell upon a book entitled “Seizures and Epilepsy in Childhood” by Dr. John Freeman. I flipped to the index and read “infantile spasms, page 108.” I turned to page 108 and crouched down on the gray carpeting to read.

“Only 10 to 20 percent of children with infantile spasms will have normal mental function; the vast majority will have moderate to severe mental retardation. This is the only (emphasis theirs) seizure type where one can predict such a poor outlook.”

I reread the lines, this time with my finger tracing the words. My lips moved, repeating the sentences over and over. A woman excused herself and reached around me for a book about colic. On the other side of the bookshelf, toddlers raced around their strollers and nannies, city babies at play. I swallowed and continued reading, the letters black and pulsating, a perverse seduction. This was knowledge.

About six months later, Sophie has already been on six drugs. Her seizures continue unabated and her development has plateaued. She’s nine-months-old and spends most of her day moaning. A new doctor assures us it’s plain irritability. A “side effect,” he says, “that you’ll have to figure out your tolerance for.” He recommends a new drug not yet approved by the FDA but available by fax through a pharmacy in London.

“Wow,” I think, “Europeans are always so much more sophisticated. We’ll try it.”

He writes us a prescription and gives us the fax number for the pharmacy in London. I imagine a small place on a cobble-stoned street, where the pharmacist still mixes drugs. I’m in Atlanta with Sophie, visiting my parents for the Christmas holidays.

The London pharmacy sends me the drug in individual foil packets. Each packet is a single dose, but for an adult. I have to gently shake the contents onto the counter and split it in half with a knife. It doesn’t seem so accurate, so I use a credit card, wielding it like the cocaine users I watched in college. The amount I give her could fit in a quarter teaspoon, fine white granules that appear smaller than sugar or salt. I lick my finger and place it in the powder and then gingerly on my tongue. It’s incredibly bitter so I spit it out. I have never been a drug user so am fascinated that such a minuscule amount can actually stop seizures. We add the drug to Sophie’s other two, a cocktail of the non-FDA-approved. And then we wait to see if it’ll work.

On the third night, Sophie doesn’t sleep. Screaming, she flails her hands and arches her back. She’s a wreck. It goes on all night for several nights. Sometimes, she quiets unexpectedly and collapses, exhausted, in her crib. I go downstairs and walk into the dimly lit living room where my mother sits, shadowed, in an armchair. She has insomnia. I kneel down next to her, lay my head in her lap and weep. She brushes the hair back from my face and says nothing.

When the wailing begins again, I climb the stairs and go to Sophie. I pick her up and walk with her, clutched to my chest but unable to cry anymore. I whisper into her ear and to the air around us, “Enough. This is enough. We will stop this.”

The next morning, I call the neurologist back in New York. I tell him that Sophie has been acting psychotic (if a baby can act psychotic). I tell him that her seizures have not shown any improvement, that she screams for most of the night, and that she appears very uncomfortable. The neurologist says little.

“Do you think that maybe the two drugs that are not FDA-approved are interacting with each other?” I say. “I mean, how many babies do you know on that particular combination?”

There’s silence. I picture the neurologist with his hand on his chin, stroking it like my third-grade math teacher Mrs. St. Andre did when she was thinking.

“Hmmm,” he says, “that’s a very interesting idea.”

For a second, I can’t breathe. His voice has travelled two thousand miles into my ear but his words are black blocks in a cartoon bubble in front of me.

I think, Shit. I have a good idea. I have a bachelor’s degree in English and French literature and he’s a neurologist, but I have a good idea. Shit. We are in no man’s land.
That moment I realized with stunning clarity that we were on our own in the care of our daughter and that no amount of scientific knowledge or experience would serve as comfort. In the space of a sentence, I felt I was shoulder to shoulder with the great minds of neurology. It felt like a crap shoot, and the only power I had was to stop.

I stopped that drug and began weaning it from Sophie’s body that day. I began to look and listen for alternatives and eventually found my way to an osteopath in southern California who worked primarily with brain-injured children. We would continue to work with neurologists over the years, open to new drugs and willing to try treatments, but I would never regain a sense of trust that the land we were traversing was known to anyone.

Today, when I get on my computer and 'google' any term I want, I am far from the frightened reader in the Barnes and Noble on Broadway. The words are plucked from some no man’s land and assemble themselves on the screen in front of me. For a while I pretend that I have a bit more knowledge than before and that it’s so accessible, right at my fingertips.

Thursday, October 8, 2009

The good doctor

My previous post described our harrowing experience with the first pediatrician who examined our son an hour after he was born. Thankfully, we had another very different experience with a doctor who assessed Ben when he was three days old.

The story continues the night Ben was born...

The doctor thought it was a chromosome problem, but he didn't know what, and when pushed by D'Arcy, he said Ben had a 50 per cent chance of having brain damage.

How could we figure out what Ben needed? Could he see a geneticist?

There was nothing to be done that night, the doctor said. He’d be back in the morning.

From 3:30 to 6 a.m. we tried to get Ben to latch on to breastfeed (he had an unusually small mouth and receding chin) but despite guidance from a lactation nurse, we weren't successful.

We bottle-fed him and D'Arcy collapsed on a cot. I held Ben and sang him "happy birthday" – something I had planned, but not with tears streaming down my face.

The doctor returned with a furrowed brow and a list of seven things that were "wrong" with Ben. In addition to his facial anomalies, he had a larger-than-usual liver and undescended testicles.

They kept him a night to monitor his breathing and then the doctor said "you can take him home," explaining that as it was Sunday, a geneticist at a nearby children's hospital wasn’t available to assess him.

"What about his breathing?" I asked, reminding the doctor that he was born with irregular breathing and had had some dusky spells.

“If he has trouble breathing, just drive him over to SickKids' emergency department.”

SickKids was at least a 15-minute drive from our house.

“How will we get him in to see a geneticist?”

The doctor was leaving on a ski trip, he said, but if I called the hospital maternity ward first thing Monday morning, the clerk would make the referral.

We took Ben home and he slept in his car seat – like a china doll – propped up in our bed between the two of us. At 8 the next morning I called the ward, only to be told that a physician had to make the referral and they knew nothing about it.

Our midwife encouraged me to call a different pediatrician – a Dr. Till Davy. I reached the nurse at his office and read off the shopping list of "defects" the doctor had given me.

A few minutes later a man with a precise, staccato-like voice came on the line and introduced himself – in an Austrian accent – as Dr. Davy. He had a soothing, melodic way of speaking that made you feel he was genuinely interested in what you had to say.

"Our son was born on the weekend," I began.

"Congratulations!" boomed the voice on the other end.

Had Dr. Davy pressed the wrong line?

"Could you be so kind as to bring Benjamin in at 5 p.m. today?" he asked.

At 5, a tall man in a white coat with a meticulously-groomed haircut and beard enthusiastically reached out to shake our hands and congratulate us. Even his stethoscope – clasped by a small stuffed koala bear with magnetic arms – was friendly and lighthearted.

Dr. Davy picked Ben up like he was holding a priceless vase, and laid him on the examining table. For the longest time, he just looked Ben closely in the eyes – admiring what he obviously considered to be a mysterious and sacred new life.

Ben gazed back.

Then he began to physically examine Ben, poking and prodding him, peering into his ears and eyes and tapping on different parts of his body. The hospital doctor had touched Ben impassively – like a machinist turning over a defective product. Dr. Davy delighted in him as a most intricate, fascinating puzzle.

Ben's eyes locked on him as his sing-song voice flitted from an intimate whisper in Ben's ear to a hearty laugh and a light blowing on his tummy.

Dr. Davy quickly ruled out any problem with his liver. Ditto that he had a cleft lip and palate that needed surgical repair.

Finally, his verdict: "I think he has a syndrome," he said in his lyrical voice, his eyes still fixed with reverence on Ben’s. There was no judgment in his words, no devaluing or disapproval, simply an estimation of the way things were.

He faxed the referral to the geneticist.

In those moments – which added up to exactly two hours passed closing time – Dr. Davy gave us our son back.

I hugged him.

Tuesday, October 6, 2009

How could my son's birth be 'wrong?'


They are words that will be seared in your memory – as fresh and raw as the day you first heard them.

When you learn your newborn has a disability or health problem, the words a doctor uses to share the news can build you up or tear you down.

"He has anti-mongoloid eyes, low-set ears and a bit of a hare lip," the doctor told us. He was obviously annoyed at being called out at that time of night and he didn’t like what he saw.

Ben – the sacred being that had grown in my body like a new limb – lay naked under the stark, fluorescent light. The doctor had unswaddled him and was inspecting him, piece by piece.

I hadn’t noticed anything unusual about Ben’s eyes. I had always loved the metaphor of the eyes being windows to the soul. I knew that mongoloid was an archaic term for Down syndrome. What on earth did ‘anti-mongoloid eyes’ mean?

“In Down syndrome, the eyes slant up,” he said. “Your son’s eyes slant down.”

He said our son had "something like a cleft palate," shook his head and muttered: "the timing wasn't right."

How could my son’s birth be wrong? My jubilation – a brilliant, burning fire – was now flickering in the wind of a competing grief.

The doctor said these were soft signs for mental retardation, though he didn't know what he was dealing with.

Sensing our mounting anxiety, he made an attempt at a joke. "Did you hear the story about the doctor who comes to examine a newborn, sees the baby's mongoloid eyes and tells the mother that the baby has Down syndrome? Then the father comes into the room and the doctor realizes he's Chinese – ha, ha, ha!”

My boy was only an hour old.

Research shows that mothers remember the first words a doctor uses to describe a baby’s disability or medical condition – and the way it’s communicated – decades later.

How did your physician communicate the news?

An article published in the journal Pediatrics last week provides guidelines on how doctors should deliver a diagnosis of Down syndrome, based on a literature review of best practices.

I think the guidelines are relevant to any newborn diagnosis.

They include that obstetricians and pediatricians jointly deliver the news, in a private setting, with both parents together, and provide accurate, up-to-date information. That includes reading resources and local support group contacts.

Most important, the researchers recommend that doctors:

-Begin the conversation with positive words, such as congratulating the parents on the birth of their child (this may sound like common-sense, but we didn’t hear the word congratulations from a health professional for days. Instead, they darted in and out with their eyes down).

-Use nonjudgmental language, avoiding words that convey pity (“I’m so sorry”) and tragedy (“Unfortunately, I have some bad news” or “I know this might seem like a devastating loss.”). It’s “unnecessary and not always reflective of mothers’ emotional states,” the researchers say. Further, conversations should not involve unsolicited personal opinions.

The article notes that in a 2007 survey of 2,500 medical school deans, students and residency directors, 81 per cent of medical students report they don’t get clinical training about people with intellectual disabilities and 58 per cent of deans say such training is not a high priority.

No wonder sharing this kind of diagnosis with sensitivity is so challenging.

Dr. Brian Skotko, a clinical fellow in genetics at Children’s Hospital Boston, led the 29-member team of health professionals that came up with the recommendations. Dr. Skotko’s research focuses on children with developmental disabilities. He’s co-authored two books related to families of children with Down syndrome and has a sister, Kristen, with Down syndrome. He writes about the study in an article called How to give a diagnosis of Down syndrome.

Thursday, October 1, 2009

Fox or wolf?


I can't imagine how crazy-making it must be for my son to communicate.

He can't speak. He uses sign language, but it's hard for him to manipulate his fingers into the correct positions because his hands are so weak. Most people don't understand sign, so we often have to interpret for him. And then there's the 'Dodo factor' of his parents to contend with, when he's signing something perfectly, but for some bizarre reason we can't make it out.

This happened last night. Ben and I had been checking out computer games on Amazon.com. Later in the evening he told me there was another game he wanted to get. This took the form of a sign made over his nose.

I couldn't for the life of me figure out what the sign was. I was guessing all kinds of stupid things - any sign I knew was associated with the nose - like a desperate person playing charades. "Pig?" "Clown?" He continued to shake his head.

Then I asked if he could sign the letter the game started with, and he signed a perfect "F." Then followed the perfect "O" and the perfect "X."

"Fox," I screamed, like a mad person with the winning answer on a game show. "Spy fox!"

I was blown away that Ben was able to sign the letters.

"You wanted the Spy Fox game." He beamed and nodded.

But then I reverted back to my clumsy Dodo stance.

I'd forgotten what the sign for fox was, and I got it mixed up with wolf. So even though Ben had signed a perfect fox (which is the letter F circling your nose - see here), I told him: "Oh, fox, this is the sign for fox," and I made the sign for wolf, which looks like this - pulling your hand out from your nose and into a tip to indicate the wolf's pointy nose.

"Fox," I kept saying, all the while producing an over-the-top wolf sign.

He wasn't able to correct me, and I can only hope that in his mind he was chuckling at his crazy mother.

It wasn't until today, when I looked up the sign for fox online, that it hit me: Ben was signing the perfect fox sign. And there I was, saying wolf. Doh!

Great reading


Here are links to several stories and blog posts that I found particularly interesting.

The first is an article in the UK Times about the importance of disabled characters in children's books. It's written by a dad with a disability and talks about In the Picture, a British campaign to encourage publishers, writers and illustrators to include children with disabilities. This is one of the resulting illustrations!

So Don't! And See What Happens! is a Canadian example that includes Madi - a girl with cerebral palsy who uses a voice-output device. What I love about this book is that it's not about Madi's disability - Madi, her wheelchair and her talking machine are simply part of the story, part of the everyday life that I want my son to see himself in.

Over at Hopeful Parents is a lovely post about accepting our children's journeys - and our own. None of us are is written by Kyra Anderson, who blogs about her 8-year-old son with Asperger syndrome at This Mom.

I found this poem posted by the mom of a 17-year-old with global delays and mental-health issues at Just Me particularly moving: i never made it to dance class.

And Ellen at To the Max shared this powerful Bill of Rights for Parents of Kids with Special Needs.

Cheers, Louise

Tuesday, September 29, 2009

‘Walker, my teacher’

I read five chapters of The Boy in the Moon last night – a memoir by journalist Ian Brown about caring for his son Walker, who has a rare genetic condition. Walker, 13, can’t eat or speak, wears diapers, punches his head mercilessly and cries for no known reason for hours.

The book is exquisitely written – a labour of love. Brown describes the relentless physical care, sleep deprivation and inability to understand a child or soothe his pain that can bring parents to their knees. But he also describes the contradictions – the expansive moments of grace and love. “The strange thing was that all this darkness could be relieved by a few pinpoints of light,” Brown writes.

A smile; a “glee spree” when Walker explodes in laughter; their shared language of tongue clicks; or when the boy finally lets go, resting “calm as a pond” on his dad’s chest in the bath, or sinking into sleep against Brown’s body after hours of soothing. “Everyday occurrences for a normal child. But I know their true value," he writes.

I’m delighted to share with you the first chapter from The Boy in the Moon.

One
For the first eight years of Walker's life, every night is the same. The same routine of tiny details, connected in precise order, each mundane, each crucial.

The routine makes the eight years seem long, almost endless, until I try to think about them afterwards, and then eight years evaporate to nothing, because nothing has changed.

Tonight I wake up in the dark to a steady, motorized noise. Something wrong with the water heater. Nnngah. Pause. Nnngah. Nnngah.

But it's not the water heater. It's my boy, Walker, grunting as he punches himself in the head, again and again.

He has done this since before he was two. He was born with an impossibly rare genetic mutation, cardiofaciocutaneous syndrome, a technical name for a mash of symptoms. He is globally delayed and can't speak, so I never know what's wrong. No one does. There are just over a hundred people with CFC around the world. The disorder turns up randomly, a misfire that has no certain cause or roots; doctors call it an orphan syndrome because it seems to come from nowhere.

I count the grunts as I pad my way into his room: one a second. To get him to stop hitting himself, I have to lure him back to sleep, which means taking him downstairs and making him a bottle and bringing him back into bed with me.

That sounds simple enough, doesn' t it? But with Walker, everything is complicated. Because of his syndrome, he can't eat solid food by mouth, or swallow easily. Because he can't eat, he takes in formula through the night via a feeding system. The formula runs along a line from a feedbag and a pump on a metal IV stand, through a hole in Walker's sleeper and into a clever-looking permanent valve in his belly, sometimes known as a G-tube, or mickey. To take him out of bed and down to the kitchen to prepare the bottle that will ease him back to sleep, I have to disconnect the line from the mickey. To do this, I first have to turn off the pump (in the dark, so he doesn't wake up completely) and close the feed line. If I don't clamp the line, the sticky formula pours out onto the bed or the floor (the carpet in Walker's room is pale blue: there are patches that feel like the Gobi Desert under my feet, from all the times I have forgotten). To crimp the tube, I thumb a tiny red plastic roller down a slide. (It's my favourite part of the routine–one thing, at least, is easy, under my control.) I unzip his one-piece sleeper (Walker's small, and grows so slowly he wears the same sleepers for a year and a half at a time), reach inside to unlock the line from the mickey, pull the line out through the hole in his sleeper and hang it on the IV rack that holds the pump and feedbag. Close the mickey, rezip the sleeper. Then I reach in and lift all 45 pounds of Walker from the depths of the crib. He still sleeps in a crib. It's the only way we can keep him in bed at night. He can do a lot of damage on his own.
_

This isn't a list of complaints. There's no point to complaining. As the mother of another CFC child once told me, "You do what you have to do." If anything, that's the easy part. The hard part is trying to answer the questions Walker raises in my mind every time I pick him up. What is the value of a life like his–a life lived in the twilight, and often in pain? What is the cost of his life to those around him? "We spend a million dollars to save them," a doctor said to me not long ago. "But then when they're discharged, we ignore them." We were sitting in her office, and she was crying. When I asked her why, she said "Because I see it all the time."

Sometimes watching Walker is like looking at the moon: you see the face of the man in the moon, yet you know there's actually no man there. But if Walker is so insubstantial, why does he feel so important? What is he trying to show me? All I really want to know is what goes on inside his off-shaped head, in his jumped-up heart. But every time I ask, he somehow persuades me to look into my own.
_

But there is another complication here. Before I can slip downstairs with Walker for a bottle, the bloom of his diaper pillows up around me. He's not toilet-trained. Without a new diaper, he won't fall back to sleep and stop smacking his head and ears. And so we detour from the routine of the feeding tube to the routine of the diaper.

I spin 180 degrees to the battered changing table, wondering, as I do every time, how this will work when he's twenty and I'm sixty. The trick is to pin his arms to keep him from whacking himself. But how do you change a 45-pound boy's brimming diaper while immobilizing both his hands so he doesn't bang his head or (even worse) reach down to scratch his tiny, plum-like but suddenly liberated backside, thereby smearing excrement everywhere? While at the same time immobilizing his feet, because ditto? You can't let your attention wander for a second. All this is done in the dark as well.

But I have my routine. I hold his left hand with my left hand, and tuck his right hand out of commission under my left armpit. I've done it so many times, it's like walking. I keep his heels out of the disaster zone by using my right elbow to stop his knees from bending, and do all the actual nasty business with my right hand. My wife, Johanna, can't manage this alone any longer and sometimes calls me to help her. I am never charming when she does.

And the change itself: a task to be approached with all the delicacy of a munitions expert in a Bond movie defusing an atomic device. The unfolding and positioning of a new nappy; the signature feel of the scratchy Velcro tabs on the soft paper of the nappy, the disbelief that it will ever hold; the immense, surging relief of finally refastening it–we made it! The world is safe again! The reinsertion of his legs into the sleeper.

Now we're ready to head downstairs to make the bottle.

Three flights, taking it in the knees, looking out the landing windows as we go. He's stirring, so I describe the night to him in a low voice. There's no moon tonight and it's damp for November.

In the kitchen, I perform the bottle ritual. The weightless plastic bottle (the third model we tried before we found one that worked, big enough for his not-so-fine motor skills yet light enough for him to hold), the economy-sized vat of Enfamil (whose bulk alone is discouraging, it implies so much), the tricky one-handed titrating of tiny tablespoonfuls of Pablum and oatmeal (he aspirates thin fluids; it took us months to find these exact manageable proportions that produced the exact manageable consistency. I have a head full of these numbers: dosages, warm-up times, the frequency of his bowel movements/scratchings/cries/naps). The nightly pang about the fine film of Pablum dust everywhere: Will we ever again have anything like an ordered life? The second pang, of shame, for having such thoughts in the first place. The rummage in the ever-full blue and white dish drainer (we're always washing something, a pipette or a syringe or a bottle or a medicine measuring cup) for a nipple (but the right nipple, one whose hole I have enlarged into an X, to let the thickened liquid out) and a plastic nipple cap. Pull the nipple into the cap, the satisfying pop as it slips into place. The gonad-shrinking microwave.

Back up three flights. He's still trying to smash his head. Why does he do it? Because he wants to talk, but can't? Because–this is my latest theory–he can't do what he can see other people doing? I'm sure he's aware of his own difference.

Cart him into the bed in his older sister Hayley's room on the third floor where I have been sleeping, so I can be near him. Hayley, meanwhile, is downstairs with her mother in our bedroom so they can get some sleep. We take turns like this, reduced by the boy to bedroom Bedouins. Neither Johanna nor I has slept two full nights in a row in eight years. We both work during the day. After the first six months, I stopped noticing how tired I was: my days and nights simply became more elastic and similar.

Lay him down on the bed. Oh, fuck me dead–forgot the pump! Build a wall of pillows around him so he doesn't escape or fall off the bed while I nip back into the other room. Remember 4 cc's (or is it 6?) of chloral hydrate, prescribed for sleep and to calm his self-mutilation. (I tried a dose once: the kick of a double martini. William S. Burroughs was thrown out of school as a kid for experimenting with it.) Reprogram the pump, restart the familiar mild repetitive whine, his night pulse.

At last I sink into bed beside him and pull the wriggling boy close. He begins to hit his head again, and because we know of no acceptable way to restrain him mechanically, I hold down his small right hand with my large right one. This brings his left hand up to his other ear–"he's a genius for finding ways to hurt himself," his teacher told me the other day. I grab his left in my left, which I have threaded behind his head. He begins to kick himself in the crotch with his right heel, so hard it makes me wince. I run my big leg over his little leg, and lay my right hand (holding his right hand) on his left thigh, to keep it still. He's stronger than he looks. Under his birdy limbs, he's granite. He'll mash his ears to a pulp if no one stops him.

There is a chance, of course, that none of this will work. Every once in a while, the chloral hydrate rebounds and transforms him into a giggling drunk. It's not unusual to have to perform the entire routine again an hour later. When he has a cold (eight, ten times a year), he coughs himself awake every twenty minutes. Sometimes he cries for hours for no reason. There are nights when nothing works, and nights when he is up and at it, laughing and playing and crawling all over me. I don't mind those nights, tired as I am: his sight is poor, but in the dark we're equal, and I know this makes him happy. In the night, there can be stretches when he is no different from any normal lively boy. It makes me almost cry to tell you that.

Tonight is a lucky night: I can feel him slip off after ten minutes. He stops grunting, strokes his bottle, turns his back and jams his bony little ass into my hip, a sure sign. He falls asleep.

I hurry after him. For all this nightly nightmare–the years of desperate worry and illness and chronic sleep deprivation, the havoc he has caused in our lives, threatening our marriage and our finances and our sanity–I long for the moment when he lets his crazy formless body fall asleep against me. For a short while, I feel like a regular little boy's father. Sometimes I think this is his gift to me–parcelled out, to show me how rare and valuable it is. Walker, my teacher, my sweet, sweet, lost and broken boy.
_
In the early years, after Walker was first diagnosed with CFC syndrome at the age of seven months, the estimated number of people who suffered from the syndrome changed every time we visited the doctor. The medical profession–at least the handful of doctors who studied cardiofaciocutaneous syndrome, or knew what it was–was learning about the syndrome as we did. The name itself was nothing more than an amalgam of the syndrome's most prominent symptoms: cardio, for ever-present murmurs and malformations and enlargements of the heart; facio, for the facial dysmorphia that was its signal characteristic, a prominent brow and down-sloping eyes; cutaneous, for its many skin irregularities. The first time a geneticist ever described the syndrome to me, he told me there were eight other children in the world with CFC. Eight: it wasn't possible. Surely we had been blasted out to an unknown galaxy.

But within a year, after our doctors had begun to sweep the medical literature for references to CFC, I was informed there were 20 cases, because more had turned up in Italy. Then there were 40. (The speed with which the number changed made me sneer at the doctors: they were trained medical professionals, surely they ought to know more than we did.) More than 100 cases of CFC have been reported since the syndrome was first described publicly in three people in 1979; some estimates are as high as 300. Everything about the syndrome was a mystery, an unknown. It was 1986 before it had a name. Symptoms ranged wildly in severity and kind. (Some researchers believe there may be thousands of people with CFC, but with symptoms so mild the condition has never been noticed.) Some CFC children hit themselves, though most didn't. Some could speak or sign. All but a few were anywhere from mildly to severely retarded. Heart defects ranged from serious to unimportant. (Walker had a mild murmur.) Their skin was often sensitive to touch, to the point of agony. Like many CFC children, Walker couldn't chew or swallow easily; he couldn't speak; his vision and hearing were compromised (he had narrowed optic nerves, one more than the other, and skinny ear canals subject to incessant infection); he was thin and wobbly, "hypotonic" in the medical jargon.

Like virtually all CFC children, he had no eyebrows, sparse curly hair, a prominent brow, wide-set eyes, low-set ears and an often charming cocktail-party personality. The CFC features grew more noticeable, more "abnormal," as he grew older. I assumed my little boy was an average example of the condition. It turned out I was wrong. It turned out the average didn't exist– not here.

Nor did those conditions change. Today, at thirteen, mentally, developmentally– I'm terrified even to write these words–he's somewhere between one and three years old. Physically, he's better off than many CFC children (he doesn't have frequent seizures, doesn't have ulcerated intestines); cognitively, less so. He could live to middle age. Would that be good luck, or bad?

Minus a few new genetic details, this was and still is the sum total of what the medical profession knows about CFC. It isn't widely studied, as autism is. Most parents of CFC children know more about the affliction than their pediatricians. The CFC population isn't large and politically powerful like that of Down syndrome, which more than 350,000 people live with in North America, and which occurs once in every 800 births. CFC shows up no more often than once in every 300,000 births, and possibly as rarely as once in a million. The National Institutes of Health Office of Rare Diseases characterized CFC as "extremely rare," way out at the far, thin end of the statistical branch, alongside bizarre genetic anomalies such as Chédiak—Higashi syndrome, a bleeding disorder caused by platelet dysfunction and white cell abnormalities. There were only two hundred known cases of Chédiak—Higashi, in part because so few born with it ever survived.

Raising Walker was like raising a question mark. I often wanted to tell someone the story, what the adventure felt and smelled and sounded like, what I noticed when I wasn't running through darkness. But who could relate to such a human anomaly, to the rare and exotic corner of existence where we suddenly found ourselves? Eleven years would pass before I met anyone like him.

Excerpted from The Boy in the Moon by Ian Brown Copyright © 2009 by Ian Brown. Excerpted by permission of Random House Canada