A doctor reveals her hidden disability

By Louise Kinross

Dr. Paige Church is a neonatologist at Sunnybrook Health Sciences Centre and a developmental pediatrician who sees children with spina bifida at Holland Bloorview. Last Monday, she wrote about what it’s like to be both a doctor and a person with a disability in a JAMA Pediatrics article. Paige has spina bifida, and she begins the riveting piece with her own medical record.

BLOOM: You and I did an interview a couple of years ago, but you decided it wasn’t the right time to share your story. What changed?

Paige Church: I think our conversation instigated a lot of reflection, and then maturity and time added perspective. I had to think and think and think about how to tell the story in a way that maintains dignity and privacy, but that draws attention to the issues that are woven into it.

BLOOM: What do you hope health professionals take from it?

Paige Church: That we need to start being more individualized, and not textbook, in conversations with parents whose child may have a disabling condition. Trainees at times have found it frustrating that there’s no formula. They want to cling to ‘If this happens, then this is what I do.’ I think when it gets into conversations around disability and living with x, y or z, it isn’t that easy to formulate that life into a simple package. Messaging that it is simple is a mistake.

BLOOM: How were you taught to counsel parents about a pregnancy that involves a disability?

Paige Church: There are essential components that need to be conveyed, but we make the mistake of simplifying it to such a degree that you can do it the same for everyone. We need to focus a lot more on exploring [each] family's structure and values and perspectives. I might spend an hour just talking to one couple about who they are: Their jobs, their values, their religion, their extended family, their thoughts about disability.

And then convey essential information in real-life terms, not medical labels that often don't make sense. We need to describe the day-to-day outcomes that are possible, and explore how this information fits into a family and their resources and challenges. There isn't a specific recipe for any given condition. It has to flow from the questions, concerns or insights that [a particular] family shares.

I worked with and learned from Adrienne Asch, who was an American bioethicist and disability advocate. She taught me a lot. She challenged me to think about how families are not clubs. You don't pick your members. Certainly I want children to feel loved and accepted and that factors into my counselling significantly.  

BLOOM: In your article you talk about how the effort to appear normal in your life and work is exhausting. What motivated you to want to appear normal?

Paige Church: I might be making a sweeping generalization, but I think for kids who grow up with a disabling condition like mine, where there are no outward signs, you have two paths to walk when you get to school. One is that the school treats you like everyone else, and you keep quiet about your extra issues. The other is to start sharing information that is quite private. When you get into bladder and bowel management, how do you do that in a way that isn’t stigmatized or bullied? As a child, I think I just perceived the stigma and decided to go the way of least resistance, and keep this all very quiet.

BLOOM: I’ve heard some unbelievable stories about children who are incontinent, and how they don't drink for the entire school day to avoid having an accident.

Paige Church: Yes, this is a strategy that's used. It's not a good one, but it's reinforced because it works, at least in the moment. I certainly have used it myself. It’s a strategy we use when we can’t afford to have problems. When I had an appendicocecostomy, my surgeon said ‘Why am I doing major surgery on you?’ I said ‘Do you realize that I've been limited to eating a handful of crackers for the whole day? I can’t afford to have an off day. I can't afford to not be available to go into an emergency in the NICU.’

BLOOM: I wasn’t clear on what that surgery was.

Paige Church: The distal end of the appendix is cut off to create a hollow tube and channelled through the abdominal wall to make a stoma you can put a catheter into. This is an option for some children with spina bifida and other conditions associated with fecal incontinence to evacuate the bowel once a day in a controlled setting. 

BLOOM: But before the surgery you didn’t eat during the day? So you were starving?

Paige Church: I’ve got more dental bills than I can count. You eat candy most of the time.

BLOOM: Doesn’t it seem unfortunate that a person has to have a major surgery for incontinence?

Paige Church: No. It was life-changing for me.

It takes the pressure off. It gets you back to being like everyone else with a degree of control over these private functions. It still isn’t perfect. But if six out of seven days are more controlled, it allows you to focus on other aspects of your life, without being consumed by worry.

BLOOM: Because you have firsthand understanding of spina bifida, you must have had unusual conversations with youth with spina bifida, in the early days before you shared about your experience.

Paige Church: Early on I looked like I was a real expert, which was kind of nice. I knew a lot of the intimate details. Over the years I’ve learned there’s no way to say ‘I have spina bifida, too,’ because there are a thousand different types and many ways a person can be affected.

As a resident, I once shared when a baby was just born that I had spina bifida. But the baby’s level of involvement was different than mine. It set the stage for expectation, and, as a result, I worry that it did more harm than help with bonding.

Now I share my story on an individual basis. It may be with parents when their children are toddlers. Or with older children who are struggling with some aspect of the condition, and I can share my story to lend insight.

BLOOM: In your article you talk about how the medical world views disability in a black and white way as a negative. You were taught that telling someone they have a disability is equivalent to telling someone they have cancer or will die.

Paige Church: Absolutely.

BLOOM: What I got from the article was that your experience of disability is the opposite of simple. That’s it’s rich and complex and full of ambiguity.

Paige Church: Yes, and that richness and ambiguity is not captured anywhere in medicine. For every horrible thing I’ve experienced, I can say there are five things that have been great. For example, if I didn’t have spina bifida, I wouldn’t have my daughter, who we adopted. And my life would not be full without her. And I wouldn’t want my own child in a trade for her. If I could have, I’d have had more of her.

BLOOM: You note in the article that your challenges with spina bifida helped you pick a fabulous husband.

Paige Church: It shapes who you are. Because of some of my obstacles, I grew and changed. I kept looking and waiting for someone who wouldn't see the challenges, but rather would see me.

BLOOM: You say that you provide counselling that is balanced, sensitive, thoughtful and individualized, rather than objective. What does the word objective mean in medicine?

Paige Church: It’s supposed to mean you don’t have any bias. You’re not bringing into the discussion anything that is subjective or is your interpretation. That’s not necessarily a bad thing. But it does become a problem when you think about the fact that it’s impossible to not have some degree of inherent subjectivity.

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'My visits are seldom welcome:' Life as a geneticist

A few years ago we ran a post called 'Everytime I see her I feel guilt.' It was about an article in the American Journal of Medical Genetics by Dr. Malgorzata (Margaret) Nowaczyk, a pediatrician and clinical geneticist at McMaster University in Hamilton, Ont. In the article, Margaret said: "Doctors write stories to give voice to the human element of the illness story that modern medicine has taught them to ignore. Doctors' stories can be as powerful as patients' stories, but doctors rarely allow themselves to tell them." BLOOM asked Margaret to share 10 things she knows about being a clinical geneticist.

By Dr. Malgorzata Nowaczyk

1. I never tell patients what to do, even when they ask, but I always support the decision they make, no matter how different it is from my beliefs and experiences. Prenatal diagnosis is the most difficult for me because here you really do deal with life-and-death decisions. Some decisions mean that a life will not happen.

2. In genetics there’s never one patient. When a diagnosis is made, it frequently affects the patient’s whole biological family in ways unforeseen. Patients require a lot of education. Sometimes they don’t want to share their genetic results with family members, and this puts the physician in a terrible bind. If I shared information with the family members at risk, I would violate patient privacy. I have had situations where a child was born with severe disabilities because a patient chose to withhold information.

3. The field of genetics changes all the time, especially in the last decade.  As a result, most of what we learned in medical school or residency is obsolete—if not just wrong. I am constantly learning—reading or writing articles for medical journals, attending and presenting at conferences and discussing new developments with colleagues and experts. While this is challenging, it’s also intellectually stimulating.

4. People don’t cherish their relationship with geneticists the way they do with other doctors—probably because we aren’t in the business of fixing things. My visits are seldom welcome. I’m often giving news of a serious diagnosis. In 20 years I have received three thank-you cards. Around Christmas time, when my pediatric colleagues carry home baskets full of gifts and cards, I go home empty-handed. That’s why the thanks I do get is so precious.

5. No single geneticist is an expert on all conditions. Almost every day I consult with other geneticists in a network around the globe.  We tend to be very collaborative.

6. Photos help us document clinical features, remember patients and track the progression of a disease. Before images became available on the Internet, it was textbook photos that taught me to recognize a multitude of syndromes. I’m grateful to those patients in the textbooks, although I recognize that often consent was not obtained properly. I understand that having photos taken is sensitive for families. I present them as an option, discuss the pros and cons, and always honour a refusal.  

7. I have seen people at the worst times of their lives and bore witness to the astounding strength of the human spirit. I have also witnessed times when suffering outweighs a patient’s or family’s ability to cope. In these cases, we try our best and then we ask for help from our wonderful and experienced social workers.

8. Clinical genetics is highly specialized. We are not researchers who work in the lab, and we are not genetic counselors. We are doctors. It takes 15 years to become a clinical geneticist: four years of undergraduate work, four years of medical school, five years of residency and another two to three years of fellowship or research. I would say it takes another 10 to 15 years of work in the field to feel truly qualified.

9. Over the years I have paid a high personal and emotional price for work in this field. I started off as a medical student fascinated by the genetic and metabolic puzzles that conditions offered for solving, but with experience I ended up caring a lot more about patients’ stories and journeys than the diseases they have. That has taken a toll. Most of the time I can’t cure the disease, but I feel that I can do something for the patient and his or her family: offer support, understanding of the disease process and acceptance.

10. If I was to start my professional life over again, I would choose genetics, again. In a heartbeat.

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Does disability make us human? Or is it a threat?

By Louise Kinross 

In the last couple of days three stories on social media jumped out because they portray such different, opposing, pictures of what disability means in our culture.

Last night CTV reported that Swiss genetic lab Genoma used a family photo of a child with Down syndrome belonging to a Canadian family in a building-size banner to promote their prenatal test for diagnosing Down syndrome in a fetus.

The photo was used without consent or knowledge of the Canadian family.

Genoma says it acquired the image legally through a stock photo company and is taking legal action against them.

It's both horrifying and not surprising.

Horrifying that a parent would find a beloved photo of their child in an ad suggesting that a child like her should be aborted. And not surprising in that a company is trying to illustrate in its ad the reason for, or 'benefit,' of their test.

What is surprising is that a company wouldn't think twice about purchasing a stock image of a living, breathing child and using it to promote public questioning of the worth of children like her.

It reminded me of when a Duke University researcher contacted me last year to let me know that my son's rare genetic deletion was now on the list of disorders identified by microarray analysis of a fetus’s DNA. I wrote about how that felt, a bit of a knock-out punch, here.

Earlier this week The New Family posted this story about two Canadian moms who set out to adopt with one request: they wanted a child with Down syndrome. This is how one of the moms, Holly Graham, explains it:

"Rewind 25 years to when I was a little girl. I had a best friend named Mandy who just happened to have Down syndrome. She was fun, loving, friendly and magical. I always knew Mandy was different, I didn’t know why, and it didn’t matter. I just knew that I loved every single thing about Mandy. One day I came home from school and proclaimed to my mom that I was going to have a baby just like Mandy one day!"

And now Holly and her partner Alex are the proud parents of Jaxson, age 1, who has Down syndrome.

On the one hand, you have an entire industry devoted to preventing the birth of a child with Down syndrome. And on the other, you have a couple who choose to parent a child with Down syndrome.

And finally, there was this piece published a couple of days ago, which I read this morning, about British anthropologists who suggest disability itself is what made us human from an evolutionary standpoint, promoting our social, empathetic, flexible natures. This line of thinking fits with the views of French geophysicist Xavier Pichon, who helped create the field of plate tectonics.

As Xavier told BLOOM in an interview: "What I discovered is that the major difference between human societies and other societies of living beings is that humans have a capacity for empathy, which leads them to take care [over the long term] of those who have been affected by major suffering and handicaps. I was very impressed by studies of skeletons of 100,000-year-old humans which demonstrated that these people took care of heavily handicapped people [for decades]. This is most remarkable as these people were nomad, hunter-gatherers who lived in groups of 20 to 25 people at most."

So where does the truth lie?

Earlier this week my team met with Dr. Peter Rosenbaum, a former chief of medical staff here who heads up the CanChild Centre for Childhood Disability Research at McMaster University. Yesterday Peter, a developmental pediatrician and children's rehab researcher, was awarded Holland Bloorview's Medal of Excellence in Childhood Disability.

He noted that medicine has swung too far to a biomedical, science side focused on "cure," forgetting that the most important quality in a health professional is human "care."

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Who, and what, is perfect?

By Louise Kinross

Icelandic photographer Sigga Ella created a series of portraits of children and adults with Down syndrome to question whether a future without genetic diversity is desirable. Her exhibit First and foremost I am has been shown across Iceland and is moving to the Warsaw Festival of Art Photography in Poland next month. Please click on the photo above to see it in full. We interviewed Sigga.

BLOOM: What did you hope to convey in your portraits? 

Sigga Ella: To see the beauty of mankind we should celebrate the diversity. The reason I did this project was because of [a] radio interview I heard. They were discussing the ethical questions we now face—that we can choose who gets to live and who doesn’t, as the aim with prenatal diagnosis is to detect birth defects such as Down syndrome and more. Where are we headed? Will people choose not to keep an embryo if they know it has Down syndrome? I had an aunt with Down syndrome, Aunt Begga. It is very difficult for me to think about the elimination of Down syndrome and her at the same time.

The title of the project comes from an article about these ethical questions written by Halldóra Jónsdóttir, a 30-year-old woman with Down syndrome. She is a student, works at a library, is an amateur actor, musician and much more. She is one of the people featured in the project, as is her article.

BLOOM: The facial expressions and body language are each so unique. How were you able to capture the essence of each one?

Sigga Ella: I spent some time with each person so I could show, as much as possible, who they are. Each of the photoshoots was unique, lasting from one to three hours. Some of the models I met before the shoot, but some I met for the first time at the studio. I wanted each photograph to show us a person with his or her own special characteristics. I wanted to bring out their uniqueness as individual human beings and the fact that by no means are these people all the same, even though they share the same syndrome. For most of the sessions I was alone with the model, so we talked, but the subjects discussed were as diverse as the models themselves. They are all different ages and at different places in their lives. My goal was to show diverse personalities.

BLOOM: How did you find your models? 

Sigga Ella: I contacted the Icelandic Down Syndrome Association and through them and some friends (and friends of friends—Iceland is a small country), I managed to find 21 people of every age (nine months to 60 years) [with an even] gender ratio. Everyone I asked agreed to participate and working with them was really enjoyable and rewarding.

BLOOM: What was the reason for photographing them with the same wallpaper background?

Sigga Ella: I was looking for simplicity and I wanted the project to be as one whole but make the subjects stand out. I wanted to [emphasize] that all flowers can grow and flourish together.

BLOOM: Can you describe your experience having an aunt with Down syndrome?

Sigga Ella: My aunt Bergfríður Jóhannsdóttir was 29 years old when she died of a heart defect. I was 12 years old when she died. She was the youngest of 12 siblings. For most of her life she lived with my paternal grandparents and my aunt Herdís Jóhannsdóttir. When my grandparents died, only three months apart…she moved to an assisted living home. She spent every other weekend and summer vacations with Herdís who was like a second mother to her. Herdís always reminisces about Begga's sense of humour. They used their summer vacations to travel the country and visit their siblings. Begga loved spending time with her relatives. Begga enjoyed travelling as well as working with her hands and she did a lot of cross stitching. We were good friends and I have a lot of good memories with her. We did puzzles together and could watch a video about the legendary twins Jón Oddur and Jón Bjarni endlessly. She was the youngest of 12 siblings and I was the youngest of seven so I guess we related to one another in that way.

BLOOM: How do you feel about testing for Down syndrome and the high rate of termination?

Sigga Ella: I am not against prenatal genetic testing for abnormalities but I think we need to stop and think [about] what’s next. In the years 2007 to 2012 there were 38 fetuses with a heightened risk of Down syndrome in Iceland and in every case the pregnancy was terminated. I think it’s necessary to open the discussion and educate people more about Down syndrome. It’s not a disease or a flaw. Parents of children with Down syndrome, just like parents of healthy children, wouldn’t exchange them for anything in the world.

BLOOM: Why is diversity valuable, including differences in ability?

Sigga Ella: We are all unique, that is valuable, and we can all learn from each other.

BLOOM: Where is the exhibit on display?

Sigga Ella: It is currently open at the Reykjavik Museum of Photography. The next exhibition is at the Warsaw Festival of Art Photography in Poland from May 15 to June 15.

BLOOM: Why did you choose to call it “First and foremost I am?”

Sigga Ella: The title of the project comes from an article I found on the Internet which Halldóra Jónsdóttir, a woman with Down syndrome, wrote. I contacted her and asked if she wanted to be part of the program. She said yes and she's one of the people featured in the project, as well as her article:

“Hello. My name is Halldóra. I read this article in the newspaper the other day that caught my attention and at the same time made me angry and sad. There was this woman who wrote something about how people with Down syndrome should not exist. Therefore I would like to share my opinion. I have Down syndrome but FIRST AND FOREMOST I AM Halldóra. I do a million things that other people do. My life is meaningful and good because I choose to be positive and see the good things in life. I go to work, attend school and have hobbies. I enjoy spending time with my friends and family and I like being around people.

“In my world there are all kinds of people, both old and young, disabled and non-disabled. It has taught me a lot and I can see that many of us have some kind of difficulty that we are battling, both physically and mentally. That’s just how life is—it’s not more perfect than that. And it doesn’t matter if you are young or old, rich or poor.

“So I thought: Who is perfect? Who can say that we who have Down syndrome are worth less that anyone else? We are all different and would it be so great if we were all alike?

“My opinion is that it is much more fun that we aren’t all alike, because we can learn so much from people who are different from ourselves. I like learning from others and you are free to learn from me. I choose to enjoy the life I was given, to be happy with what I have and make the best of what I’ve got. It’s not a bad life, or what do you think? This is my opinion.”

BLOOM: What reactions have you had to the series?

Sigga Ella: First and foremost has had amazing reactions. For that I am really grateful. It has been featured in Icelandic newspapers, magazines and on radio. I have put up this exhibition six times in different parts of Iceland. It has also been featured in international media like CNN, Huffington Post and Fstoppers, [a photography news website]. I’ve had amazing feedback from people all over the world. That means a lot to me.

Photo below by Daniel/Visir. 

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What is 'progress' in prenatal testing?

By Louise Kinross

Yesterday I was contacted by a researcher at Duke University who wanted to interview me about a new blood test that can detect micro-deletions like my son’s genetic condition—Langer-Giedion Syndrome—as early as 10 weeks into a pregnancy.

I’ve written about the issues I have with prenatal testing: that it’s increasingly viewed as a standard of medical care and social responsibility, rather than a woman’s choice, and that when a prenatal diagnosis is made, a clinical description isn't balanced with information from families raising children with the condition or affected adults.

In addition, information is often presented in a value-laden way. For example, I’ve been on the receiving end of obstetricians and genetics counsellors who talk about “perfect” babies and “abnormal” babies, and about a “burden you’ll live with for the rest of your life” during what is supposed to be neutral counselling.

It's also quite possible that the clinician a parent speaks with during genetics counselling has zero life experience with disability—kind of like talking to a car salesman about a car he's never driven. Instead, it’s more likely that the clinician views genetic disability as a preventable, costly medical error.

The Duke researcher sent me a link to Sequenom Laboratories’ press release.

It reports that the company will be able to identify three new micro-deletions—including Langer-Giedion Syndrome—as part of its Materni21 PLUS test. Although this blood test already detects a handful of micro-deletions, it’s named for its ability to detect Trisomy 21, or Down syndrome.

There’s a quote from the head of maternal-fetal medicine at Cleveland Clinic saying the test “has helped change how we treat our prenatal patients.” However, there isn’t any explanation as to what this change is. The doctor does say he can now provide patients with results as early as 10 weeks into the pregnancy.

Does counselling for a genetic disability at 10 weeks into a pregnancy differ in any way from that at 16 weeks? If so, what are those differences?

As the testing for micro-deletions is expanded, how is the clinician’s real-life understanding of these conditions enlarged to ensure prospective parents get balanced and rich information?

What are clinicians doing to reach out to families affected by micro-deletions so they can provide more than a clinical description and perhaps even a referral to a support group?

Like other deletions, Langer-Giedion Syndrome affects people differently. The MaterniT21 PLUS will not give prospective parents any insight into whether their child will be mildly, or more severely, affected. My son will not go to university, but some with the disorder do. Prospective parents will have a diagnosis, but no clear sense of impact. Quite the emotional quandary, I would imagine, and not the precise, scientific "genetic analysis solution" that the company refers to.

To me, the technical side of prenatal testing is the easy part. The information and counselling that comes after a diagnosis is the messy part, the part that needs critical scientific attention and study and evaluation.

Sequenom says that it’s “committed to improving healthcare” but it doesn’t mention anything about how the results of its test are used, or how test results translate into counselling that prospective parents find useful, supportive and neutral.

Oddly, Sequenom’s news release doesn’t mention a thing about termination, yet I imagine most positive Materni21 test results lead to termination. Why is this not openly discussed in its promotional materials?

Again, I think it's easier to talk about “laboratory-developed”  tests and “revolutionary genomic and genetic analysis solutions” rather than the real-life decisions of a woman who may know little about disability or be ambivalent about using termination as a prevention measure.

Note that on July 29 Sequenom reported revenues of $39.8 million for the second quarter of 2014, an increase of 62 per cent over the same period last year.

There’s lots of money to be made in increasing the number of women who take the Materni21 PLUS.

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Never alone

By David M. Perry

Minutes after my son Nico was born, as he lay on the warming table, I noticed his eye was having difficulty opening. I asked Michelle, our nurse-midwife, if there was anything wrong. 

"No, his eye is fine," she replied, "but did you have any genetic testing done?" 

“No,” I said. This was true, not because of any philosophical plan, but because for various reasons we didn't know my wife Shannon was pregnant until we had moved past a lot of the test dates. The ultrasounds showed no troubles, anyway.  

Well,” she said, “he’s showing characteristics typical of Down syndrome.” 

My mind reeled, racing through images of people with Down syndrome. The word “retarded” flashed by. I immediately started imagining our life and wondered, “Does that mean we’re going to have to put him in an institution?” Later, my wife told me that her first thought on hearing the news was concern about his life expectancy. 

This was the moment, the birth of our first child, that should have been filled with elation. We had planned for it, dreamed of it, waited for it. But the words “Down syndrome” were so powerful and so negative that our minds turned instantly to institutionalization and death.

“What does that mean?” I asked Michelle. 

Michelle answered my question in the best possible way. She said that there was a big range of possibility, some risk factors, and also the strong likelihood of significant delays. I did not process this answer, not really.

“Should I tell Shannon?” I asked? Yes, Michelle said, I could.

Through classes and talking to doctors, Shannon and I both knew how things were supposed to go. After the baby is born, they clean him and wrap him and weigh him and make sure there’s no danger, then they give him to his mother. There are so many pictures and images of that perfect smiling moment: exhausted, the new parent and new person cling to each other. The baby, having taken his first breath, issues his first wail, a protest at having been extricated from the perfect home that is the womb. Nico was silent. Nico was not being placed on Shannon, and she sensed something was wrong. 

“Where is my baby?” Shannon cried. “Is he ok?” I mumbled something. “Is he ok?” she repeated. “He’s fine,” I said, “But Michelle thinks he has Down syndrome.” The words tumbled out of my mouth in a painful rush.

It was the first time that I said that my son has Down syndrome. I’ve said it so many thousands of times since, the meaning shifting as my understanding changed, from something that seemed so terrible to just a complicating fact, a fact intricately linked to the identity of my wonderful son. 

We have a picture of that moment, a moment when we first held our baby. I’m not sharing it. We do not look happy. But sometimes, I look at it, thinking back to those moments in order to see how far we’ve come.

The next few hours were not easy. We got to hold him, for what seemed like seconds, before they whisked him off to the special nursery. There was a phone call to my parents. There was a locked post on livejournal explaining our situation, to which I didn't permit comments. There were tears and anger and stages of grief. 

And then two things happened. First, I got to spend time with my son. He was covered with wires and tubes, but he was real, tangible. There was work to do. Here was a child who needed care. The presence of my son booted me from abstract to real. 

Then our community of friends and family, who had spent the hours since my late-night post learning about Down syndrome, kicked into gear. In those first bitter hours, among the more trivial of my dark thoughts was that the man we had asked to be Nico’s godfather wouldn’t want to be involved with Down syndrome. Perhaps I should let him off the hook, I thought. I felt ashamed of my son, of myself, of my thoughts. I wanted to hide. But our friends, including Nico’s godfather, were up to the task.

When they talked to me on the phone, when they came to see us, they said what you would say to any new parent: “Congratulations!” 

“Stop it,” I wanted to shout, “there’s nothing to congratulate us about! This is a tragedy. Lives are ruined.” 

But they were wiser, and stubborn, and just kept congratulating us. They came to visit laden with flowers and champagne and chocolate cake and presents. They showered us all with love. They told us our baby was beautiful and cooed over him. Together, my son and my friends carried me out of the first shock of grief. They shifted my perception so that I didn't see just a bundle of symptoms and potential problems, didn't just see a diagnosis, but instead saw my wonderful boy.  

By the end of the second day, Nicholas successfully latched onto his mother’s breast and nursed. We’d been told he probably wouldn't be able to nurse, that his jaw would be too weak, that he might need a direct tube in his stomach, or to be fed via a tube inserted down his nose, and all sorts of other things. But he nursed. And for the next four days, we’d be back in his room every three hours, providing a kind of rhythm to a life that so quickly became our normality. 

We transitioned from mourning to the joys of parenting thanks to the presence of a real boy for whom we could care and love, while being surrounded by a community that rallied around us so marvelously and so stubbornly. I’m still grateful, because those joys are immense.

But when I think back to that moment when my son was born and I heard the words “Down syndrome,” there was only grief. Fear. Ignorance. I was incapable of rational thought.  

Imagine being given that news over the phone in week 16 of a pregnancy. 

In the prenatal context, there’s no child to care for, to love, to nurture, and to see as something real. There’s no child around which the community can gather, praise, tickle, focus on. There’s just this diagnosis and a shape on an ultrasound machine. That shame we initially felt in the hospital, the desire to hide, was only countered by our friends showing up at the hospital with their powerful words and love.  

Absent powerful support structures—spouses, family, friends, faith, whatever it takes—how is someone supposed to get through that?

This is why community, correct information, and representation matter so much. It’s why we need to change the meaning of "Down syndrome" from something that's filled with fear and grief to something filled with the possibility of joy.

Sometimes people ask me what we would have done with a prenatal diagnosis of Down syndrome. I tell them that I can't answer that question. There’s no way for me to put my mind back into the state of ignorant abstraction prior to meeting Nico. Statistics suggest that I might have advocated for an abortion. Then again, we would have been alone, without community, without concrete knowledge of what life with Down syndrome is really like, good and bad. 

That's the goal of the work of so many writers, organizers, and activists—to let people know that we aren't alone, that the birth of a child with Down syndrome may come with a long list of worries, but also deserves congratulations, and can lead to a laughing boy sliding down a waterslide into the waiting arms of his sister (or whatever your life may bring). 

There are no guarantees in life, no matter how many chromosomes you have. We'll have many more obstacles to face. Some will make us weep, surely. And yet, we won't be alone. 

David M. Perry is a professor of history at Dominican University who writes about disability and related topics on his blog How Did We Get Into This Mess? His essays have appeared on CNN, The Atlantic, and The Nation. Follow him on Twitter @Lollardfish.

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When science doesn't have all the answers

By Louise Kinross

It’s on the list.

My son’s rare genetic deletion is on the list of disorders identified by microarray analysis of a fetus’s DNA. 

It was a surprise to find it there, but given the dizzying speed of prenatal testing advances, it shouldn't have been.

It makes me sad to think that the lives of children like my son are being targeted for termination. Is this a step forward? Something that will make the world a better place?

We can identify more and more genetic disorders, but can we use this information in an enlightened way to help families make decisions about raising or terminating children with disabilities?

Microarray analysis is a new technique that compares a fetus’s DNA with a normal DNA, identifying genetic duplications or deletions too small to be detected by karyotyping (the microscopic analysis of chromosomes that picks up larger changes like those seen in Down syndrome).

That's why when I had an amniocentesis over 20 years ago I was told the child I was carrying was "normal," when in fact he had a genetic change too subtle to be detected.

I've written about that experience. How an elevated blood test led us to a genetics counselling appointment where there was no counselling: no discussion about our values, what parenting meant to us, or how we felt about screening for and aborting a fetus with genetic disabilities. Other than a recounting of the dry statistics (that I had a 1 in 200 chance of having a child with Down syndrome and a 1 in 200 chance of miscarrying as a result of the amnio), there was no discussion at all.

When I couldn't make a decision, an obstetrician was sent in to berate me, referring to a child with Down syndrome as "a burden you'll live with for the rest of your life."

In a 2012 study published in the New England Journal of Medicine, the new microarray testing picked up the kind of genetic change my son has in six per cent of fetal samples with normal karyotypes from women who were referred when a structural problem was seen on ultrasound, and in 1.7 per cent of samples with normal karyotypes from mothers who were referred because they were older or had had a positive screening test.

Microarray currently requires fetal cells that are taken through amniocentesis or chorionic villus sampling, so it comes with a risk of miscarriage.

But the researchers look to a non-invasive blood test being developed, with hopes that "every woman who wishes will be offered microarray, so that she can have as complete information as possible about her pregnancy," says lead investigator Dr. Ronald J. Wapner in a related news release. Dr. Wapner is professor and vice chairman for research at the Department of Obstetrics and Gynecology at Columbia University Medical Center.

Who can argue with complete information?

But is it complete?

What kind of counselling is offered today to the parents of a fetus that is diagnosed with a micro-deletion or micro-duplication? Even less is known about some of these conditions because they're just being named.

Is a medical description of the condition paired with information from families raising children with the same disorder? Or affected adults? 

In my son's condition, there's huge variation in how children are affected and microarray can't predict whether the symptoms will be mild or severe. And what about the human side of the equation, the joy that a child, regardless of ability, brings to a family. That can't be conveyed by a professional who has no firsthand experience with disability, and may well view disability as a medical failure.

"Women often terminate a pregnancy without knowing what life would be like with and for an anomalous child," writes Far From The Tree author Andrew Solomon in this New Yorker piece. "It is worth publicizing the satisfaction that the experience may entail, so that the pro-choice movement becomes the pro-informed-choice movement."

Parents-to-be often "confuse how it feels to lose an ability (to be suddenly bereft of hearing) with how it feels to live healthily with a variant body (to be deaf all your life)," he writes. "Further, they confuse their own discomfort with their child’s."

Yesterday one of our readers sent me a study called Posttraumatic growth in parents and pediatric patients in the Journal of Palliative Medicine. The study is a review of 26 journal papers on positive psychological change that results in parents or children after a child's traumatic medical event (including cancer, prematurity, and acquired and congenital disability).

"Posttraumatic growth is the positive psychological change that results from a struggle through a life-altering experience" and may include "greater appreciation of life, improved relationships, greater personal strength, recognition of new possibilities in one's life course, spiritual or religious growth, and reconstruction of a positive body image."

The authors conclude that posttraumatic growth is an important, little studied and poorly understood phenomenon affecting children with serious pediatric illness and their families. They suggest research is needed on how professionals can positively intervene "to facilitate families' movement away from dysfunction or deterioration and toward growth." 

I include this paper because it demonstrates that traumatic experiences that shake up our worldview are not wholly negative. Life is more complicated than that.

The technical side of prenatal testing is the easy part. It's how we use that information to benefit families and the culture as a whole that's complex.

A paper on the use of microarray in prenatal diagnosis by the American Congress of Obstetricians and Gynecologists (ACOG) raises some important points.

"The potential for complex results and detection of clinically uncertain findings identified by [microarray testing] can result in substantial patient anxiety," write the authors. 

They note that women in the New England Journal of Medicine study who received abnormal results “reported a lack of good understanding of the potential for uncertain results and noted feeling great distress on receiving such information and then needing to decide how to proceed with the pregnancy.”

The ACOG recommends that women understand that prenatal microarray "will not identify all genetic disorders." 

This is a point true of amniocentesis, but when I was counselled, no one ever explained it to me. My understanding was that a clear amnio result meant a genetically-intact child. After my son was born, I stopped counting the doctors who exclaimed, in disbelief: "But you had a normal amniocentesis!"

Further, the ACOG notes that "diseases may be identified for which the clinical presentation may vary greatly and range from mild to severe. It may not be possible to predict what the outcome will be in a given patient." 

So how will identifying these problems prenatally help?

“We are way better able to counsel parents about what [development issues] would mean for the child," Dr. Wapner says in this CNN story. "We can modify the course and improve the outcome for the child.” 

I hate to be cynical, but there aren't any fetal interventions that can improve my son's condition, or many of those I see on the list.

It would be useful to know what happened next in the cases of the women in the study whose fetus's received diagnoses. Did any of them benefit from fetal interventions that changed their outcome? Were the fetuses carried to term followed to see how they and their families fared? How many were terminated? 

Oddly, the paper doesn't mention anything about termination.

How come there is no research on the "after" side of the prenatal-testing equation?

For example, how do parents rate the counselling they received? How could it be improved? Did parents feel equally supported by professionals in choosing to carry a child to term or terminate the child? What supports are provided to parents who terminate and what supports are provided to parents who don't?

We know that 85 per cent of women who receive a prenatal diagnosis for Down syndrome choose abortion.

Do they feel it's a choice, or a social responsibility?

This study in the Journal of Applied Social Psychology looks at how people judge women who carry a baby with an identified disability to term or refuse prenatal testing.

The survey asked 281 staff at a Canadian university and 341 Canadian doctors who work in obstetrics to rate three scenarios in which a woman's child is born with a disability. Both the university community and the doctors rated the woman who chose not to abort her disabled fetus and the woman who refused prenatal testing as more responsible, more to blame, less deserving of sympathy, and less deserving of social and financial support for their child's care than a woman who wasn't offered testing.

"This examination is of pragmatic relevance because of a growing sentiment that prenatal testing can and should be used to meet public economic goals by reducing the financial burden that disability places on the medical and social welfare systems, and that women who do not use it to prevent the birth of a disabled child should be held financially or legally accountable," writes the author.

I'm grateful that microarray testing didn't exist when I was pregnant with my son. I didn't have the life experience to make an informed choice, and the genetic clinic didn't provide me with any family stories to give me a picture of what real life could be like. Most importantly, I couldn't predict my ability to cope with my son's disabilities and to parent a child who's different. 

I believe the front-end of prenatal testing is proceeding at a pace way beyond our ability to understand its ramifications. 

It's how we support families after the diagnosis that needs study.

Science must be used to our benefit, not just because the knowledge and technology exist.

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A doctor struggles with her 'patient' shoes

A family physician from Israel spoke about being asked to counsel a couple considering terminating their fetus with Gaucher's disease Thursday at the international narrative medicine conference I'm attending in London.

What made this encounter unique was that Dr. Ruth Kannai from The Hebrew University of Jerusalem has Gaucher's disease herself. The condition causes an enlarged liver and spleen, skeletal disorders and bone pain.

Dr. Kannai was asked by a medical colleague to speak with the parents.

She recounted how she began the phone call feeling "omnipotent" in her role as doctor and capable of separating the professional from the personal. But, she said, she was quickly flooded with unexpected childhood memories about her condition that left her feeling confused about her position.

Because the couple had already spoken to a geneticist and doctor, Dr. Kannai recognized that she represented the fetus, or patient. "You should really speak to my mother," she told them.

Dr. Kannai described her life as a doctor, wife and mother of four, focusing on her abilities and describing her childhood as happy and normal between hospitalizations.

The woman on the phone asked her: "What do you do when the child has pain?" Dr. Kannai explained that as a child she took pain killers, rested and wore splints. But she said that at this point in the conversation she felt like a "failure. I felt my words were empty and hollow and I wondered how I had gotten myself into this mess."

Only later did she realize she'd left out how difficult it was for her parents to work and support the family when she lay in the hospital for weeks; the resentment her sibling voiced about the attention she got; and the way her father cried when she was hospitalized.

Co-presenter Einat Avrahami, a professor in the department of English at The Hebrew University, noted that the woman was concerned about her own suffering as a mother "deprived of the maternal ability to relieve pain in her child. The question of pain trumps most other issues" in prenatal genetic consultations, she said.

Avrahami said this was "confusing the disability trait with the whole of a person's life."

She also said that the conversation between Dr. Kannai and the parents ignored the social construct of disability, where "disability is situated in the individual and the solution for the problem is put in the hands of clinicians and it's the responsibility of the individual to overcome their impairment."

Avrahami noted that when the question is framed as "whether a couple should terminate" as opposed to "whether they should continue the pregnancy" the question isn't neutral to begin with and "highlights the medical intervention of abortion."

Dr. Kannai said she regretted speaking with the parents because she couldn't separate her role as doctor from that of patient.

However, she said parents whose fetus has a prenatal diagnosis need access to real-life stories from families of children living with the disability, or to be able to speak directly with families, so that they can make an informed decision.

When she learned the couple she had spoken with had aborted their fetus, she felt "angry. I hadn't succeeded in selling myself as successful enough or worthy of life."

She wrote about the experience to try to better understand it. "Something important happened here, but I can't explain it with the tool kit I received at medical school."

Dr. Kannai spoke about how as a sick child she wanted to become a doctor. "I was choosing sides. It's possible to be either a patient or a doctor, but never both. There is a struggle to leave illness outside the profession."

She noted that student doctors are taught that their personal story will interfere with patient care and that it's paramount to remember that "the patient is the one with the disease."

However, suffering is a universal human experience, she said. The reality is that patients and doctors have wounds. "If the doctor denies her wounds she may be unable to listen to her patient's cry for help."

Dr. Kannai quoted psychiatrist Carl Jung: "Only a wounded doctor can treat effectively." She said that when doctors don't acknowledge their own wounds, they put themselves above their patients and can't have equal relationships.

When I asked Dr. Kannai about whether it's ever appropriate to share a personal story about illness or disability, she said professional boundaries are there primarily to protect doctors. Sometimes providing the best care means breaking the rules. For example, she's had a hip replacement and when a patient considering the surgery asks her about her experience with the procedure, she shares it.

Dr. Kannai later told her 12-year-old son about her conversation with the expectant couple and asked what he'd do if he found himself in that situation in future. Would he want to terminate?

"Don't be silly!" he said.

Dr. Kannai said she has found meaning in her experience with disability but recognizes that the search for meaning "is personal and non-transferable."

She said that when she translates her patients' stories into "the language of suffering" required in a medical file "the real story is not told. When I'm offering objective information, I feel I'm faking it."

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Selective abortion: A choice or a social expectation?

When I was pregnant with my second child I had an amniocentesis—not because I wanted one or knew how I would act on the information—but because I feared people would judge me if my second child was born with disabilities.

I feared people would say I'd chosen to have a child with disability, rather than that I'd chosen not to abort.

The testing was recommended because my first child had a random genetic condition. "I understand why you'd want to do everything in your power to prevent having a second abnormal baby," the obstetrician in the testing clinic said dryly.

I remained silent, not wishing to discuss my views on disability prevention or my son. The amnio came back normal and I didn't have to wrestle with my views on prenatal testing and abortion.

A week ago Andrew Solomon had an interesting piece in The New Yorker called Medical Progress, Social Progress, and Legal Regression.

While arguing against North Dakota's new laws that ban abortions for conditions like Down syndrome or spina bifida, he questions how informed decisions are when a woman doesn't have information about families raising children with the same condition her fetus has.

"Women often terminate a pregnancy without knowing what life would be like with and for an anomalous child," he writes. "It is worth publicizing the satisfaction that the experience may entail, so that the pro-choice movement becomes the pro-informed-choice movement."

Parents-to-be often "confuse how it feels to lose an ability (to be suddenly bereft of hearing) with how it feels to live healthily with a variant body (to be deaf all your life)," he writes. "Further, they confuse their own discomfort with their child’s."

Solomon points to a fascinating study that shows how people judge women who carry a baby with an identified disability to term or refuse prenatal testing. 

The survey asked 281 staff at a Canadian university and 341 Canadian doctors who work in obstetrics to rate three scenarios in which a woman's child is born with a disability. The first woman chose not to have testing, against the advice of her doctor. The second chose to continue her pregnancy after testing identified a disability. The third was not offered testing by her doctor.

Participants were asked to rate how responsible each woman was for the disabled child and how much to blame. They also had to score how much each woman deserved sympathy, and how deserving each was of social services and financial aid to help her care for the child.

"Numerous examinations of attributions for outcomes have concluded that individuals are held more to blame for a negative event when it is perceived as being under their control or preventable," the researcher notes.

Both the university community and the doctors rated the woman who chose not to abort her disabled fetus and the woman who refused prenatal testing as more responsible, more to blame, less deserving of sympathy, and less deserving of social and financial support for their child's care than the woman who wasn't offered testing.

"This examination is of pragmatic relevance because of a growing sentiment that prenatal testing can and should be used to meet public economic goals by reducing the financial burden that disability places on the medical and social welfare systems, and that women who do not use it to prevent the birth of a disabled child should be held financially or legally accountable."

The key phrase here is "prevent the birth of a disabled child." Abortion doesn't prevent disability. It prevents the birth of a child who has a disability. They are two quite different things. 

I was surprised to see that this study was 10 years old. I think public opinion about women who don't abort for fetal disability has hardened since then.

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