Doctors' disbelief is a common response to rare disease

By Louise Kinross

Laura Howson-Strong is an occupational therapist at Holland Bloorview who has worked with children with disabilities at two ends of the spectrum: as preschoolers readying for kindergarten at our nursery schools, and as teens preparing for transition to adulthood.

At a Schwartz Rounds last year, Laura shared what it was like to work with our families given her personal experience with rare disease. As a child, Laura had pain that oscillated between her stomach, her chest and her joints. Doctors told her parents she was attention-seeking and “making it up,” she says.

As a young adult her symptoms got worse. She was diagnosed with conversion disorder, “where the physical symptoms are real, but are caused by a reaction to stress or psychological trauma.” It took 11 years, several misdiagnoses and a lot of her own research, before she learned she had a rare connective tissue disease called Ehlers Danlos syndrome. Three years later she was diagnosed with a second condition, mast cell activation syndrome, an immune disease.

“When I heard about the Schwartz Rounds on health-care workers who are also health-care users, it spoke to me,” she says. “I thought: ‘Why don’t I tell people about my diseases and experiences? Why am I hiding, so to speak?’” 

“I realized I was keeping quiet because I had a lot of shame and doubt. In the past, I wasn’t supposed to speak about my symptoms, because they were something I was ‘doing’ to myself. But then I learned this was still happening to others. In 2018, children are still given mental illness diagnoses or going undiagnosed when their bodies are failing them. My story isn't uncommon.”

BLOOM interviewed Laura to learn more about how her personal experiences have informed her work.

BLOOM: What is your current job here?

Laura Howson-Strong: I’m an occupational therapist in experience-based employment programs like Youth@Work, Ready to Work and VolunteerAble. A large focus of my job is helping clients and families identify and build the skilled needed for transition to adulthood. It could be learning about job tasks that you can do and like; speaking to new people; ways to market yourself; and thinking about how you learn and how to ask for accommodations.

I’ve also worked in early learning with children with disabilities from birth to six.

Over time, I’ve heard so many similarities in the goal areas of these two populations. Things like: ‘How do I make friends?’; ‘How do I speak up to ask for help?’; ‘What can I do and what do I enjoy doing?’

BLOOM: What’s the greatest joy of your work with teens?

Laura Howson-Strong: I love being able to be part of successes and solutions. In some cases I’m able to see youth and their families throughout their young adulthood, so I’m able to see the change and the progress over time.

BLOOM: Why is Rare Disease Day on Feb. 28 important?

Laura Howson-Strong: First and foremost, there aren't enough of us to represent ourselves, and many rare diseases go undiagnosed. So we need allies. We need people and communities and organizations to spread the word to bring awareness to these diseases, and to have decision-makers better understand their impact. We need help to advocate for increased funding, knowledge, research, treatment, and possibly cures. I’ve learned that the majority of the rare diseases out there don’t have cures.

For me, I worry that in light of the incredible medical advances going on, a cure for my disease may exist in a cure for another disease. But it might never come to fruition for me, because the right people aren't aware that my disease exists.

Rare Disease day is also an opportunity to celebrate our journeys and uniqueness and beauty and strength. We’re not made to fit moulds, and that should be recognized and honoured.

It's also important because we need to end the unnecessarily complex and sometimes damaging diagnostic processes people experience. Mental illness diagnoses should not be a common step of your medical pathway to getting a rare disease diagnosis.

Right now, denial of symptoms, of services, and of the support we so desperately need within the healthcare system, is a common thread in many of our stories.

BLOOM: What is your diagnosis and how does it affect you on a daily basis?

Laura Howson-Strong: My primary diagnosis is Ehlers Danlos syndrome (EDS). EDS is varied, individual and multi-systemic. It’s a genetic connective tissue disorder with symptoms that range from mild to debilitating. Many of our symptoms have diagnoses of their own.

It affects me daily, all day, every day. The main issues I deal with are chronic pain, joint dislocations, fatigue, gastrointestinal problems and nerve damage.

BLOOM: How do you manage?

Laura Howson-Strong: Daily medications. A lot of them. I also use braces. Some constantly and others at different times of the day. I have ankle-foot orthoses, a neck brace, hip braces, finger and wrist braces. I use a cane for difficult days, long distances and bad weather. 

It's different for each person with EDS, but I manage pain and fatigue through medications, joint injections and positioning—the way I move my body, the way I sit and the way I reposition myself. I set up my days to have a variety of movement and rest activities. I’ve tried a lot of rehab and therapies, and I’ve stuck with swimming therapy and physiotherapy. I’m going to a private specialty EDS clinic in Ohio this year to pay for medical services.

BLOOM: Is there not one in Toronto?

Laura Howson-Strong: Luckily, a new rare disease clinic opened through the University Health Network last year, and I'm on a long wait list for it. At this time, it's a diagnostic clinic only. I look forward to eventually connecting with doctors familiar with EDS through this clinic.

I'll be paying thousands of dollars to go for treatment in Ohio to address loose joints in my neck that dislocate easily. It will likely include Botox, bracing and therapy done by a doctor.

BLOOM: What is your hope for the trip?

Laura Howson-Strong: Pain reduction, better treatment of the symptoms, more EDS-specific knowledge and validation of my symptoms.

BLOOM: You also have an immune disorder. How does that affect you?

Laura Howson-Strong: I have an overactive response to allergens, but it's difficult to determine what allergens because the response is not consistent. It could be clothes, food, the environment or my own heat and sweat. I get symptoms of anaphylaxis such as rashes, swelling, throat closure and difficulty breathing. I take medication to decrease the response, rest, and sometimes go to the hospital. Mast cell activation syndrome can be connected to EDS, but the connection isn't fully understood.

BLOOM: How does having a rare disease add value to your work?

Laura Howson-Strong: I was an occupational therapist first, and a patient second. When I was at school, I had no diagnosis.

When I entered the health-care system as an occupational therapist, I was shocked at how much I struggled to navigate and to speak up. I was educated in health care, yet I became lost and overwhelmed.

When I was diagnosed with conversion disorder, I was shut down by doctors. They would say ‘the basis of this is psychological or psychiatric, and I don’t have the services.’ They refused to refer me on to specialty clinics for the physical symptoms I had.

I lived a few years of my life thinking I was causing this myself. I began to hide the symptoms, the pain, and I just didn’t talk about it. This interview is going to be the first time that many of my friends and family hear that I was diagnosed with a rare disorder, let alone conversion disorder.

One way my experience influences my work is that I really think about how we value the voices of youth. How do we include them in decision-making, and in appropriately understanding their treatment plan and being part of their plan?

I think we're trying hard to do that as an organization, but I still think we have a ways to go to make sure children have their voices and concerns heard during appointments, and have opportunities to get their questions answered in the health system overall.

BLOOM: How do your own experiences with pain and disability inform your work?

Laura Howson-Strong: As a patient, I was so surprised to learn how much the medical system expects of patients and caregivers: to be a system navigator, a doctor liaison, an organizer, a nutritionist, a therapist, a record-keeper. I learned it’s exhausting and sometimes almost impossible.

Today I can better see how much pressure we put on parents to do everything—to keep connected, to be a parent, to be a therapist, to be a doctor, to manage all the appointments, to manage all of the paperwork.

When is there time for parents to self-reflect, network, participate in self-care, or just have fun?

It makes me look at what I expect from families in sessions, and to cut down on the number of recommendations and goals I have. When I set goals with families now, they have to work into their everyday lives and be important in the here and now.

BLOOM: What’s the difference between what’s ideal and what’s doable?

Laura Howson-Strong: We have a tendency within the medical model to want to fix problems, so we give lots of recommendations. We give them with good intentions, but we don’t understand how much it might take for the family to do just one of those things within the day.

With rare diseases and disabilities, you see a lot of different doctors and therapists. You’re given a whole bunch of goals and treatment plans from each one, and the amount of work combined is often overwhelming.

I’m very aware of the guilt clients and parents can have when they don’t accomplish what they were supposed to do. Am I doing everything possible? Should I be doing more?

BLOOM: How have your thoughts about disability evolved?

Laura Howson-Strong: For the last decade I’ve had a firsthand look at how deep the roots of stigma around disability are—the ways people judge those with visible and invisible disabilities.

My disability is primarily invisible. I’m still getting used to being yelled at by strangers for parking in the accessible parking spot. Or trying to figure out what to say to people when they ask: ‘Does your husband regret marrying you?’

I’ve had the experience of crossing the street in downtown Toronto and falling, and I was surrounded by 15 people, and not a single person stopped to help me up. I had to call out ‘Are you kidding me?  have an invisible disability and I need someone’s help.’

I thought I had an understanding of the stigma of disability. But until I became disabled more visibly, I had no idea.

It makes me consider how I build the skills clients and families will need in the health-care system, and in bigger-picture society. Things like advocacy, decision-making, speaking up and resilience.

BLOOM: Do you have any personal advice for youth who feel stigmatized?

Laura Howson-Strong: Trust yourself. Trust your instincts and keep trying. Remember that it’s okay to not be okay sometimes.

Remember that you're not alone. Growing up thinking 'Am I sick, am I not sick?' and then on the other side, having two rare diseases, I've often thought 'Oh gosh. I'm so alone.' But it's important to remember that even if people aren't going through the same thing, there are so many commonalities, so many ways we can come together as a community and group to support each other emotionally.

One of the best things for me is saying 'It is what it is.' I can't control the outcomes, but I can control how I react to it.

We can’t do the health system alone. We need to reach out for help.

BLOOM: How can you find support when your condition is rare?

Laura Howson-Strong: Consider looking up online support groups and communities for disability and rare disease. You could also ask for help from other people in your life, like family, friends, teachers or your doctors or clinicians. There are great youth mentors here at Holland Bloorview. They may not have the same rare disease diagnosis, but they do have firsthand experiences of disability within the health system and the community.

BLOOM: What could we do as an organization to better support families affected by rare disease?

Laura Howson-Strong: At a basic level I wish there was more acknowledgement of rare disease, and access to services. In the health-care system, having a rare disease can restrict your access to clinics, because we don’t fit into the clinic criteria or share the same diagnoses as typical patients. I’d like to see a Holland Bloorview support group or information night for families affected by rare disease.

BLOOM: I would imagine we have hundreds, if not more, families living with rare disease. Jennifer Brea’s film Unrest is creating a lot of buzz about people with rare, chronic illness who are dismissed as being stressed out or mentally ill. What was it like for you to watch that film?

Laura Howson-Strong: Because I haven’t spoken out about my journey through mental illness to rare disease, it was really interesting and validating to hear my own experiences through someone else’s words and thoughts. It really made me feel like I’m not alone in this process, even if the end result is not the same diagnosis. There’s still so much support and love and community that we can give and provide to one another.

BLOOM: There’s a scene in the film Unrest where Jennifer Brea’s husband talks about how their life can feel quite normal and good when they’re on their own. But when they go out into the world, people are constantly reminding them that they aren’t able to do things that their peers are doing.

Laura Howson-Strong: One of the hardest things for me is when people look in and feel sorry for me. Or feel my life could be better. Or feel this can only be a negative thing in your life. Having a rare disorder absolutely turns your life upside down, and things that you wanted, or had planned for, don’t always turn out the way you hoped.

But for every difficult memory I have of my health or the health system, I can think of incredibly positive or funny experiences. Some of my greatest assets have been developed because of my rare disease—like my strength and self-determination, to the point of stubbornness, and my ability to problem-solve. I wouldn’t be the person I am today without the difficulties and challenges I’ve faced.

My disease is progressive. Knowing I may not look the same way in five or 10 years impacts my goals, and what I truly want to spend my time doing. What ultimately matters is I have a family and friends who I love, and I do things in my day that are important and meaningful to me.

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'Travelling, side by side, through these villages of grief'

Charlotte Schwartz (above right) holds Isaiah, 4, with husband Seth and Rivers. Isaiah has a rare metabolic disease called Galactosemia, which is associated with speech and motor delays as well as seizures. Isaiah is diagnosed with autism and global developmental delay.

"My husband and I were only married a year before Isaiah was born," she writes. "We had virtually no time to just be us before we had this beautiful baby, and then everything changed again days later when he fell ill."

Here she shares a letter to her husband that reflects "how tremendously challenging having a child with various problems can be as it relates to a marriage." You can follow Charlotte at Running On Borrowed Legs or on Today's Parent: 'I worry my special-needs son is lost in the school system.'

By Charlotte Schwartz

My dearest Seth,

It's time I committed these thoughts to paper.

I feel like we've been on this road much longer than we actually have, don't you? Doesn't it seem like since forever that we've been travelling, side by side, through these villages of grief and hamlets of sorrow?

We're both so irreparably tired that all but a few things have ceased to make sense. Basic concepts are easiest for us, anything more complicated is a challenge we seem all too weak to face. I feel like we love each other, so much still, but we are silent on that subject most of the time, favouring constant action and continual, often circular motion over idling. 

But I remember that there was a time—not so long ago—when our contact amounted to much more than a brushing of cracked, dishpan hands across a sink full of dishes or another e-mail exchange about Isaiah's appointments, therapies, fundraising or schooling. Indeed there was a time when "we" were the sum of our respective parts; complementary pieces in a giant puzzle and people we were proud to be. There was a time when we were both chasing dreams for our individual and collective selves that extended far beyond just getting to the end of each week. 

I remember that not so long ago our lives were more than a game of schedule-checkers—arguing about whose appointment trumps whose commitment when considering Isaiah's scheduled assessments, therapies, school meetings, and life. It was full of promise; of a connectedness I had never known before, of  a will to work hard for one another and to never be satisfied with less than our respective best. But now less is the best we can give. 

There was a time when, just five years ago, we promised to stand by each other through whatever proverbial "thing" may come our way. We said I am my beloved's, and my beloved is mine. 

But things have really shifted, haven't they? Because we belong to these boys now: I belong to my insurmountable sorrow and you belong to that place in your mind that you retreat to so frequently.

We belong to long days and erratic sleep patterns and brains that won't quiet themselves. We belong to the vice-like grip Isaiah's diagnoses have on our lives. Our options, which at one time seemed without limits, have dwindled unexpectedly. Altering the status quo could irretrievably upset the "balance" that we have worked so hard to find, ignoring how damaging that balance is to the concept of "us".

Our boy came into this world just two weeks after our first wedding anniversary; I was 28. I loved you on the day we were married but I loved you again on the day Isaiah was born. You became something new to me—a dad who I knew would do right by his son. A dad who I knew would redefine the term for me and never give up. Always being best, better. 

But a week later we found out he was sick. A rare disease, no less. 

No treatment. No cure.

Questions without answers, nights devoid of sleep, silent screams into oblivion and painfully blank stares that we pierced each other with. In those moments, despite our promises of abundance in love and life, we had nothing to give to the other. Nothing but silence which you needed but which felt like it was slowly infesting my life and weaving throughout my body like a poison.

Five years later, since his arrival, we still find ourselves silent often. My grief has become an immovable fixture; a hurdle over which I cannot leap, a brick wall I cannot scale. It seems it will always be there. 

But as you would, you have dealt with your grief differently; like a scientist. You took your grief and converted it to an energy, a fuel. You composed an orchestral piece comprised of studies and statistics and words so meaningful that they mean nothing to so many people. You have conducted your life despite all of this, while I have voluntarily laid mine to rest. My best years, I tell myself, have come and gone. At 28, the rest of my path was forged and predictable and banished to a balancing act of maintaining composure, of being strong for everyone else, and of slowly falling to pieces on the inside and knowing, inherently, that may never be fixable.

And while I stay strong, I admit that over these last five years I have given up more than a hundred times. I've given up on you. I've given up on Isaiah, on our home, and on myself. I've given up on us, on holidays, and on some of my life's objectives. My immovable grief became so burdensome that I had no choice but to throw in the towel and accept that life had handed me lemons, and that try as I may, I don't really like lemonade.

So it's no wonder that as many as 85 per cent of parents of children with "special needs" divorce, is it? His diagnosis belongs to all four of us and because of it, in many ways, we are forced to live alone, together. 

It is a life that needs two people, and two people who must be happy dividing the mundane and conquering to-do lists. It is a life where progress is so rarely made that when it is, we are cautious and apprehensive. We do not celebrate it because it may not be real.

But as I promised I would on that day we were married, when I give up, I always pick up and start again. My fatigue-driven capitulation is often short-lived and my brand of drive is renewed, if only for a while. It is in those short bursts that I can see your smile on our wedding day. I can see the hands I held at the altar. I can feel the hands on my shoulders when we were dating that were tentative and exciting. But those bursts are so painfully short; the reel breaks and we are thrust back to reality. 

My dearest Seth. I am so sorry that things have turned out this way, though I know I don't have to apologize. Nothing is any one's fault. Not really. But when there is nothing left to say an apology seems an appropriate concession; when we have lost the ability to say the words we would give limbs to hear our boy say one day—I love you. 

I know now that love evolves quickly and adapts to meet changing demands. Our version of love may not play out the way it does for our peers; indeed, it is almost exclusively devoted to the needs of our boy. Our love is expressed in quiet subjugation, in keeping appointments, in sending "How are you?" text messages mid-day when you know the answer will always be "Could be better." Our love's currency is reliability and sameness where all other variables are at frequent risk of changing. And if those things don't constitute love in our circumstances, then I'm afraid I know no other way. 

I want you to know that though we never seem to have moments or opportunities anymore, that in much the same way I did before we were married, I gather my strength in the latest hours of the night when we retire to bed and when, for those few brief moments, you are close enough to me that I can breathe you in. 

It is moments like those that fuel me more than any verbal exchange could; where so much has happened that so many words mean so little. 

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'Getting a diagnosis has changed our world'

By Keith McArthur

Laura took a deep breath and mustered up the courage to call the neurology clinic.

Families of sick children were supposed to wait patiently. The clinic nurse had made this clear eight weeks earlier when Laura first called to check up on our son Bryson’s lab results.

But parents quickly learn that it pays to be pushy. And what was supposed to be a four-month wait had stretched to half a year of waiting to find out if Bryson had tested positive for a degenerative disease that would prevent him from reaching adulthood. So Laura ignored the ‘don’t call us; we’ll call you’ directive and dialed again.

“The results still aren’t back,” the nurse said. “We’ll call you when they are.”

When Laura pressed, the nurse reluctantly agreed to check on the file. A few minutes later, the nurse returned to the phone to sheepishly acknowledge that an error had been made. Bryson’s blood was never sent to the US lab for testing.

The reality of this—another four months of waiting—hit Laura hard. She hung up the phone and wept.

Four months later, the results finally came back. They were negative.

For nearly a decade, Bryson has endured countless tests to try to uncover a diagnosis: A muscle biopsy. Multiple MRIs and EEGs. Dozens of blood and genetics tests. One by one, we crossed potential diagnoses off the list as every test came back negative.

But a few days ago our world changed. Through a full sequencing of Bryson’s DNA, we have a diagnosis. Bryson has an extremely rare genetic disorder known as GRIN1, named for the gene that is misspelled.

It’s so rare that our doctors don’t really know much about it. And there’s very little on the Internet about it. But through social media, we’ve already connected with families in the United States and Europe who have children with this diagnosis.

While details vary from person to person, the common symptoms include moderate to severe intellectual disability and low muscle tone. Many kids also have seizures. Interestingly, several of these children find joy watching sports.

And the good news: the disease isn’t degenerative. GRIN1 kids progress and develop in physical and mental ability at their own pace.

Our kind and brilliant genetics doctor, Ronald Cohn, confided he’s been surprised over the years at how happy families are to receive a diagnosis—even when it doesn’t change treatment.

And indeed, getting a diagnosis has changed our world.

Laura has always felt like maybe the pregnancy was her fault—that she did something wrong when Bryson was in her belly. The pressure on expectant mothers to be perfect is immense. Now she can finally let go of this toxic guilt.

And for me? I understand now that Bryson’s little body is doing exactly what it’s supposed to be doing given his own genetic code. He is perfect. Yes, one of his genes is coded differently, but the vast majority—some 20,000—are copies of mine and Laura’s.

Not only that, but we now have the knowledge that in the future, there could possibly be new treatments—medicines or gene therapies—that could help Bryson to progress more quickly.

The biggest change, however, is that our family is finally part of a community. It’s a small community; we know of just eight other people with the disease. But we are no longer alone.

Bryson will never be alone.

We found these families through a blog post a GRIN1 mom had written.

So I want to speak directly to any families who might find this post after receiving their own diagnosis:

First, congratulations and welcome to our community. Please reach out so we can learn more about GRIN1 together. Meantime, I’ve included some links below where you can read more about Bryson and other kids with GRIN1.

This post initially appeared on Keith McArthur's blog.

Bryson
Baseball and Belonging
My Father’s Day Pledge

Hunter
Penguins games therapeutic for Carnegie toddler with rare gene mutation

Aislinn
Aislinn’s Treasures: Just Grin

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'P-what?' A dad teaches doctors about child's rare condition

By Louise Kinross

Yesterday a dad came to visit me.

His name is Syed Haider and his daughter Zahra, 5, has pantothenate kinase-associated neurodegeneration (PKAN)—a progressive genetic disease caused by mutations in the pank2 gene. A missing enzyme damages nerve cells and causes iron to accumulate in the brain. Syed’s story of having a child with a rare disorder reminded me of another dad, Matt Might, I had read about in this New Yorker piece. Matt wrote a blog post that went viral and moved forward research on NGLY1 deficiency, a new syndrome his son has been diagnosed with. In fact, Matt and another parent co-authored a journal paper on how this scientific discovery happened thanks to advanced DNA sequencing and Matt’s ability to connect with families and researchers worldwide through social media. I tweeted Matt and he said he’d be willing to connect with Syed.

Here’s a bit more about Syed and his daughter's journey.

BLOOM: What is PKAN and how does it affect Zahra?

Syed Haider: PKAN is a neurodegenerative condition caused by a mutation in the pank2 gene. It falls under the spectrum of Neurodegeneration of Brain Iron Accumulation (NBIA) disorders. It has a rapid rate of progression. Some of the major symptoms are dystonia (uncontrolled movements), dysarthria, dementia, spasticity, writhing movements and toe walking. In Zahra’s case, when she was one, she couldn’t sit by herself. When she was two she would stand up and fall. These kids seem to be clumsy in the beginning but as time passes problems become evident with walking, talking and swallowing. Zahra falls down like a tree falls. These falls can cause injury to the face and chin.

BLOOM: How many cases are there in Canada?

Syed Haider: To the best of my knowledge, I've only been able to find eight or nine. There are about 300 cases in the world.

BLOOM: What does Zahra enjoy? What is her personality like?

Syed Haider: Zahra is a pretty social person. She likes being around other children and people. She likes to dance, and the reason she likes to dance, I believe, is it helps her with her dystonia. It reduces the pressure on her body when she’s dancing. She doesn’t have any typical way of dancing. When there is music going on she will move with the flow of the music. She does walk, but she toe walks, which causes her to trip and fall down. She doesn’t know how to defend herself if she falls. She doesn’t have the reflexes to put her hands out. She likes swimming. She feels kind of free in her body. She likes to play with cats and pigeons. I buy feed from the dollar store and put it in a basket and there’s a flock of pigeons that come on our balcony. Zahra enjoys the pigeons. She is reaching to a stage where she realizes she isn’t able to do things like other children can do. She has a strong personality in terms of emotions which I’ve noticed with other children who have PKAN. They don’t look for sympathy.

BLOOM: Tell us about the four year journey to have her diagnosed.

Syed Haider: That was after enormous visits to different hospitals, genetics, family history trees that they kept making, MRIs, but they couldn’t figure out what this thing is. When she was one I took her to the pediatrician. He said “It’s your first child, you guys are being over-protective. Once you have the second one you won’t be so concerned about it.” By the time she was four she looked normal physically, but she wasn’t achieving her developmental milestones. She would walk and fall over something as small as a carpet. And in terms of communication she wouldn’t be able to say a complete sentence. She would use words or sounds.

BLOOM: How did you get the diagnosis?

Syed Haider: One day I picked up the Metro newspaper at the subway on the way home from work and read an article about advanced research that SickKids is doing. They mentioned whole genome sequencing and how it can help to develop research techniques to avoid someone developing a disease in the years to come. The next day I walked in to the hospital and started talking with people, and they sent me to the genetic department. I learned they were doing a study, but that the enrollment was closed by the time I got there. When I explained the way Zahra functioned and how we don’t have an answer, the doctor said ‘Let’s try to find out why she is the way she is.’ She enrolled Zahra after all. All that was required was a blood sample from all three of us. Then we waited for eight or nine months for the results.

BLOOM: What was it like to have someone take your concerns seriously?

Syed Haider: It felt somewhat of a relief that someone was willing to listen to us the way we want them to listen, and take initiative in helping us out. But when they finally told us why Zahra is the way she is, at that point we felt ‘Why did we ask for it?’ It’s a catch-22. But today, one year down the road, I think it was the right decision for us to know. The way I look at it, if it doesn’t help Zahra today, maybe 30 years down the road whatever I can do, with everyone else around me, will benefit someone else.

BLOOM: How was PKAN explained to you?

Syed Haider: There were three geneticists and a social worker. They had a box of tissue papers. They were out of words themselves because the head of neurology wrote on the letter clearly that you need to choose a setting in which you can comfort the patient while explaining the situation. They said this is the second case in the history of SickKids. They left us in the room alone for half an hour when my wife and I couldn’t control our emotions. They were with us for the whole afternoon. We were in that room for four hours. There’s no solution to the disease but they couldn’t tell us how it would progress in Zahra.

PKAN is an autosomal recessive disorder and my wife and I are carriers of the mutated gene. That’s the only way Zahra got it.

I asked ‘Was there something that I could have possibly done when we thought of having a child?’ The doctor clearly said that if Zahra is your first child, with the way this mutation occurs, doctors couldn’t have known. They wouldn’t have known where to look. The chance of it happening is almost impossible. One copy of my gene is normal and one copy is mutated, and it's the same thing with my wife. In order for Zahra to have it, out of all 60,000 genes she took from each of us, she had to take the mutated one from me and the mutated one from my wife. The only answer one is left with is God meant this life to be on earth so it is.

BLOOM: What is it like to have a child with a rare condition that so little is known about?

Syed Haider: The hardest part was I ended up losing my job. Last summer I spent my days and evenings sitting in the library, which happened to be across the street from our home, reading books or ransacking the Internet. I had to study exactly what this disease is. My priorities in life had changed suddenly, taken a 360-degree turn. I couldn’t concentrate on my work or my career, naturally. I was on the web 24/7 and the more I got into it, the more I got answers, I said ‘Why did I ask for this?’

I learned that the symptoms and progression are so severe that I wouldn’t want my enemy to have this. As a parent, to find a cure, I first have to understand the problem. But the deeper you dig, the more difficult it gets emotionally. It’s like a double-edged sword. You can’t live with or without the information. I was focused on finding people in a similar situation and I found the Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders Association. It supports families affected by the group of disorders that includes my daughter’s condition. Patricia Woods, the founder and a parent, has worked devotedly for almost 20 years to help other families.

BLOOM: What are you trying to do in terms of raising awareness about PKAN?

Syed Haider: Most doctors are not aware of the condition. When I tell them she has PKAN they say ‘P’-what? I met a mother from Newfoundland whose son has a type of this condition. Her son was diagnosed a month after Zahra. It was good that we both met and talked and were on the same lines in terms of wanting to form a non-profit. We have registered as NBIA Canada and are waiting for charity status. Our two objectives are to raise awareness in the medical community and in the general public for funding. We also want to enlighten the community that disability is not a choice. We are in the very initial stages with NBIA Canada, but with guidance, hard work, and a passion for cure and with the help of others around us we will eventually succeed in making a difference in the lives of these children.

BLOOM: If you're able to get funding for research, what do you hope to do?

Syed Haider: The concern we have is there’s only one doctor in Portland, Oregon, Dr. Susan Hayflick, who’s working to find a cure. Dr. Hayflick has a small team of sincere and devoted people working to find a cure. She and her team discovered the gene associated with PKAN in 2000 and since then they've discovered four more NBIA genes. We want to help her out by bringing in other researchers who can take on bits and pieces of the research.

You can learn more at NBIAcure. If you have any advice for Syed on raising awareness of, and research dollars for, a rare disorder, e-mail him at syedbilalh@gmail.com.

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Parenting my one-of-a-kind kid

By Beth Dangerfield

Three days before this picture was taken we rushed my daughter Abby into the emergency room. She had a stomach bug and wouldn’t eat or drink. For most kids this is a routine problem that can easily be resolved. For Abby, this is a crisis.

When she stops eating and drinking, Abby's body starts to break down quickly and critically.

When the rest of us are ill and lose our appetite, our bodies use fat for energy to sustain our necessary functions. Abby’s body isn’t able to do this—the enzyme that converts fat into energy doesn’t work.

Abby has a rare genetic metabolic disease called Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. When she’s sick and stops taking food and fluids, her body doesn’t have anything to use as energy. Things get really serious, not just with her muscles breaking down, but with her kidneys and heart. The way I explain it is that hospital stays are a necessary part of Abby’s treatment. Her disease doesn’t get better and, to our knowledge, it won’t get worse. When illnesses arise, being in hospital is essential to keeping our daughter safe and managing complications.

Our recent hospital stay, which wasn’t the worst or longest, made me reflect on our journey parenting a child with a rare disease. Feb. 28 was World Rare Disease Day. As the last day in February comes and goes each year, I take comfort in knowing that the circle of people with whom we share so much in common is far-reaching, especially since disease-specific support is hard to come by. These are people who understand that our parenting journey is unique.

Parents as experts

All parents are the expert on their child. When your child has a rare disease, you become the expert on that disease. While we have an incredible team of metabolic doctors that works with us and is in contact with emergency room staff and pediatric teams, when there’s an emergency, they aren’t frontline responders. We’re the initial source of information on Abby’s disease for frontline doctors and nurses. Our role as experts and advocates is amplified.

We can tell you Abby’s highest ALT and AST levels; we can tell you a treatment for unusually high and increasing CK levels in her blood; we can tell you what to watch for to know if her body is breaking down muscle; we can tell you why we are testing for ketones in her urine; we can tell you how to bring the CK levels down and predict with almost exact accuracy how quickly her levels will decrease. We know this disease. We bring a wealth of information to the table. Without that information, the care isn’t complete. This responsibility feels immense.

Not only do we have to explain our daughter’s condition to health workers, but because prompt, appropriate treatment is imperative, we must insist on playing an integral role in her care. This assertiveness about our medical knowledge and experience isn’t always met with a smile.

The trouble with trust

Trust in health care is important. But it’s hard for us to trust when we’ve never met a doctor or nurse outside our metabolic team who knows Abby’s disease. The “I don’t knows” are frequent and feel frightening. We must ask lots of probing questions, request clarification on everything, inquire about any lack of urgency and insist on attention to every little thing. This trust issue goes both ways. It was difficult for our doctors this time to trust what we were telling them about the best way to care for Abby. “You’re not letting me help her get better” I told one night nurse. It wasn’t her fault—she just happened to be in the room and I was pushed to the limit and almost in a panic. When dealing with a rare disease, the traditional doctor-patient-family relationship doesn’t apply. A new type of partnership must be forged and we have to trust each other in different ways to provide the best care. This isn’t easy.

Trying to manage complex, fragmented care

At one point during our recent hospital stay, I had a specific question for a doctor. To get to the doctor, the question had to go through a chain of command of four people. This is a system I’m trying to be patient with and accept. I mention this example only to illustrate how complicated rare disease care can be—in every respect. It’s not direct and involves many people, delays, mixed messages and miscommunications and, of course, a great deal of uncertainty. This applies to our hospital stays, but also to the general maintenance and monitoring of Abby’s disease when she’s at home.

Abby had her first crisis—a cardiac arrest—40 hours after she was born. Because of this early life-threatening emergency, Abby’s motor skills, especially her speech and language, are delayed. As a result, we’re seen in four health centres by eight different clinics, in addition to the therapy we receive at home. Each doctor or therapist works separately. While there’s an understanding of the bigger picture, appointments and goals are set independently and progress is assessed in isolation. Our care is fragmented and uncoordinated. Managing that care while in hospital, and in everyday life, is a full-time job. Even though I dedicate most of my time to it, the expectations regarding Abby’s care are impossible to meet.

When you have a child with a rare disease, it feels like you're parenting with the volume turned up so loud it drowns out everything else. Everything is extreme. Everything is intense—the to-do lists, the planning and running around, the worry about the present and the anxiety about the future. The good news is that this amplification also applies to the good stuff. The little things carry a lot of weight and are very satisfying: the calm and happy moments, the steps forward and the personal growth. For me, what's most deeply rewarding is watching Abby continue to land on the wrong side of the odds as she exceeds expectations in every way.

We only spent three nights in the hospital this time around. We were discharged just in time for Abby's fourth birthday party. It’s hard to believe it’s been four years since I heard about LCHADD for the first time. It feels like yesterday that I was standing with the neonatal fellow in the hallway of the NICU, listening to her tell me that Abby’s newborn screening results were abnormal. I could take you back to the exact spot where that conversation took place. It wasn’t a diagnosis at that point, but it might as well have been. That was the moment our rare journey began for me.

If I had one wish and could take this disease from Abby, or make it disappear, I would in a heartbeat. It’s too much. It’s not fair and she certainly doesn’t deserve to have to live within the confines of LCHADD. But I have to admit, there are moments, many of them, where I feel a sense of pride about how unique she is and about how we have survived so many rare “firsts.” There isn’t a day that passes where I don’t feel proud to be by her side through this. I hope I'm able to pass this feeling along to her as she grows up—to convey to her that being “rare” isn’t easy, but it’s one of the things about who she is that makes her outstanding.

If you’re a parent of a child with a rare disease and are interested in group support, please feel free to contact torontofamilies@rarediseasefoundation.org for information about the Rare Disease Foundation Parent-2-Parent Resource Network. This is a monthly group I participate in.

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'I do feel sad sometimes, but Kate isn't'



Last week I shared a new comment written on our most popular post The Invisible Mom by Sue Robins. The Invisible Mom is about how mothers of kids with disabilities can face the same social exclusion their kids face. Julie Drurie, mom to Kate, 7, who has a rare mitochondrial disease and took the selfie above, wrote a thoughtful response on her blog Searching For Solid Footing. We've reprinted it below. She made me think about how my perception of my child's exclusion may differ from my child's perception. Interested to hear your thoughts. Louise

'I do feel sad sometimes, but Kate isn't'
By Julie Drury

The first time I read The Invisible Mom I didn’t think that was me. I understood it and felt strong empathy for Aaron’s mom, but I didn’t think I felt the same pain and angst of exclusion as she.

But then I started considering how Kate is ‘included’ and ‘excluded,’ deliberately or not. I reflected on the moments where her differences stand out so starkly and where I hustle to make excuses for her…

…“she can’t hear you.”

“yes, she’s 7…but she’s more like a 3-4-5 year old.”

“she is signing or saying this that or the other thing.”

“well, she could come to the party…but maybe I should come too…to help…and she’ll probably have to leave early.”

She’s the kid who leaves early from school, is often sick, wears the funny helmet, has a tube in her nose, doesn’t speak, sometimes hits the other kids, is often in her wheelchair stroller because of fatigue, runs away and won’t come back, doesn’t understand when you ask what her favourite colour is (but she can tell you her name and how old she is!!). Some (few) make an effort to include Kate, but playdates, birthday-party invites and get-togethers with the girls are not really part of her life, sadly.

She loses her peer group annually as others grow and mature and learn and she is left behind. Her reality is that adults are her friends—and the few children whose parents facilitate them staying engaged with Kate.

Do I feel left out? Sometimes, yes.

Am I sad? Yes, I grieve ‘loss.’

More importantly, does Kate feel left out? No. Is she sad? Nope. She has her friends at school that will change year to year, but that she values nonetheless. She has her friends at Rogers House (Myah, Moon Pie, Buffa, Mat-teww), and her adult friends (Christine, Kat, Erin, Kara, Adrienne, Vanessa, Steffi, Tall Steve, and more) that she loves. She is developing her own friendships and through those connections, I am finding my peer group of moms and friends as well. A different peer group than what you would expect, but a very valuable one.

I don’t think I am an invisible mom. I think people see me. If they don’t, I usually make them see me and Kate.

I wish for so many things for her. I wish for playdates and friends and movies and outings and independence.

I do feel sad sometimes. But Kate isn’t. Not yet. For now she is happy. Like Aaron’s mom I hope she never has to understand or become aware of the pain of invisibility.

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An update on Kate!

You heard about Kate when her mother Julie Drury, above, wrote about a new complex care program at the Children's Hospital of Eastern Ontario (CHEO) that she was benefiting from. Here's an update on Kate from CHEO.

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One child, 10 conditions, no diagnosis

One child, 10 conditions, no diagnosis
By Julie Drury

Our daughter Kate (above) had 10 medical conditions but no diagnosis. Episodes of repeated vomiting, pain and racing heart rate sent us back to the emergency room -- over and over and over again.

Imagine arriving for the 10th time, your toddler presenting with the same unexplained symptoms. Armed with a binder that contains your medical journal, a list of countless specialists and ever-changing medication schedules, you tell your story to the triage nurse, then a resident, then a doctor. After hours of waiting, you move to an inpatient ward, where you repeat your child's complicated history again – to a student, a nurse, a resident, an attending physician and many specialists.

No one knows your child and no one knows what's wrong. You're afraid, frustrated and exhausted.

This was life for our family.

At nine months, Kate became acutely ill with episodes of cyclical vomiting, pain, lethargy, high heart rate, low oxygen saturation and severe anemia. Our family doctor seemed overwhelmed with her symptoms and began treating her for reflux. His advice was to take her to emergency at the Children's Hospital of Eastern Ontario (CHEO) in hopes that they would identify the underlying problem. We rushed there more than 20 times in the first 2.5 years of Kate’s life and had many hospital admissions.

In addition to serious medical problems, Kate was losing her hearing during this time and was eventually diagnosed with global developmental delay. To address this, we added rehab professionals to our long list of specialists: occupational, speech and physical therapists, auditory-verbal therapists, psychologists, a developmental pediatrician, integration support workers, school board advisors and community care access staff. On a daily basis, we juggled therapy, clinic visits, tests and chronic illness. Every six weeks or so, Kate became seriously ill and we'd rush to emergency.

Kate’s severe episodes often happened in the evening and escalated throughout the night. In the early days, my husband and I would take Kate to the hospital. We needed two sets of arms to cuddle and comfort her. We needed two sets of ears to listen to the doctors and understand how they were going to treat her. Over time we settled into a routine of me taking the lead and my husband taking the night shift during hospitalizations. Every hospital trip involved asking friends and neighbours to care for our older son.

With no diagnosis and no doctor overseeing Kate's case, I became Kate's medical advocate and coordinator. I tried to ensure that all of her specialists were up to date on the approaches pursued by each. I kept a detailed journal and concise medical summary because her enormous medical chart wasn't always available during clinic visits. And it was too long to be read and absorbed during an emergency room visit or hospitalization.

After two life-threatening events, I worked with a discharge planning coordinator to pull together case-conference meetings about Kate. We wanted better coordination of care, and a solid plan to support Kate and our family when we showed up in emergency.

I was taken aback when our simple request for a triage letter outlining Kate's conditions and protocol for care was met with reluctance. None of her specialists wanted to take the lead. Each felt uncomfortable being the point person for a child with a complexity of medical issues.

We couldn’t keep this up.

Then, during a long admission in February 2010, we heard about a new pilot program at CHEO. The Coordination of Complex Care Program (CCCP) aims to improve care for children who are medically complex and fragile. The team supporting a child includes a 'most-responsible physician,' a nurse and family-care coordinator, and a nurse practitioner. These professionals ensure that information is shared and coordinated among specialists, the community pediatrician and community organizations (integrated support services, community care, therapists, schools, social worker).

A single point of contact for hospital admissions meant that someone finally 'knew' Kate. For us, that someone was Dr. Natalie Major. Dr. Major knew Kate's medical history, had a protocol in place to treat her, and could adjust it as necessary. We weren't constantly repeating our story and trying to educate different doctors.

The CCCP has changed our lives and, most importantly, changed Kate's life. Shortly after being admitted to the program, a major health crisis due to poor medical coordination was averted. It’s been two years since we joined the program, and we’ve seen many benefits.

We make less emergency trips. We have a medical protocol in place to ensure Kate’s efficient and effective care. We have a triage letter that explains her condition and outlines how she’s to be treated. There is better communication and collaboration between her specialists. Because procedures are coordinated, Kate has fewer pokes for bloodwork. If she needs a general anesthetic, Dr. Major leads a full case conference to ensure all aspects of her complicated condition are considered.

Our family -- once incredibly alone and burdened -- now copes with solid medical support.

The reality is that children like Kate, who are medically fragile and complex, are living longer. While they make up 12 to 18 per cent of the population, their care produces up to 80 per cent of the health-care bill. They have chronic conditions and are usually dependent on technology. They spend a lot of time in emergency rooms and hospitals. Their health can be improved – and pressures on the health-care system reduced – by putting programs like CCCP in place.

I’m happy to say that Kate’s health has stabilized over the last 12 to 18 months. She continues to have her acute episodes (26 to date). But because of Dr. Major’s early intervention, the episodes are handled efficiently and quickly. This minimizes our trips to emergency and the need to hospitalize Kate. Since joining the program, Kate’s underlying diagnosis has been confirmed. She has a rare form of Mitochondrial disease.

Families who can’t access programs like CCCP are suffering. They shouldn’t have to experience fear, frustration, burn out and financial ruin. Their children shouldn’t be at risk for medical error or omission because they are so complex. They shouldn’t have to consider moving to another part of the country to get the services they need.

Innovative programs like CCCP demonstrate that there is a way to keep these children out of hospital. But in Canada, these programs are few and far between. Our program – a two-year pilot – now has one year of project funding. We will continue to fight for funding and recognition of its importance. Medically-complex children – who weren’t part of our community only a few short years ago – deserve this essential care.

Learn more about Kate Drury and her family at Caring Bridge.

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'Rare' is the loneliest number

I'm honoured to share this post from Catherine Calhoun of Saint Francisville, Louisiana. Catherine volunteer manages the RARE blog for the Children's Rare Disease Network. Thank you for sharing Catherine and welcome!

'Rare' is the loneliest number

By Catherine Calhoun
The three taboos related to my son’s rare syndrome (McCune-Albright syndrome/fibrous dysplasia) are pain in kids, deformity (especially facial deformity), and early death. As a group of parents who meet at family conferences and online, we rarely speak of these things.

When I went looking for help for my son’s bone pain – it’s a crippling curl-up into a ball knees to chest and cry at night sort of pain – I found no support. I found doctors who doubted that he could be in such pain. I found doctors who said ask someone else about this pain. I found doctors who said we don’t know why he has this pain – some kids have pain and some don’t. I felt alone and a little like I was calling out for Ferris Bueller.

We’ve now worked out that his endocrinologist will order the medicine he needs for IV infusion and my son sits in a primarily adult infusion clinic monopolizing the television with his Scooby Doo videos. We don’t know what this medicine will do to my son over time. We guess it’s better than getting a second grader hooked on narcotics.

As the medicine drips into his arm, I try not to think of toxicities. At the end of the day, I have to go with “treat pain” and push worries for the future aside. I can’t really let my son stay curled up in a ball unable to move for pain indefinitely, can I? And I’m looking at a lifetime of pain for him. How can I even get out of bed in the morning? I sometimes wonder this as I drag myself out of bed in the morning. But then the medicine kicks in for him over a period of two weeks, and I pretend that maybe the pain will never come back.

During our medical travels, we met a young adult who has MAS/FD like my son. He is delightful and more than kind to my son – wheelchair racing him and listening to his chatter. As we sit down for dinner, my son says: “Mom, look at his legs, they are crooked (And makes a crooked line “C” with his finger for a visual in case I didn’t understand).” My best reply: “Sometimes that happens.”

I want to know “when does it happen, why does it happen, will it happen to my son too?” These bones can turn to something liquid-like, rarely but still. These bones can move all about the face causing marked asymmetry, as well as vision loss and hearing loss. My son is a living grenade – as his condition progresses “what will happen?”

No one really knows the prevalence with a best guess of one in 100,000 to one in one million. It has a vast spectrum – very mild (you might not even know you have it) to lethal. I have not found another boy in the world my son’s age with bones as bad as my son’s bones – but there is probably someone somewhere in the world, probably.

Five families lost someone to MAS/FD last year. When I think of how one of these young adults was not found for some time, I can hardly breathe. The parents had died years before and this adult had no siblings. Noticing the absence, the loss, was left to co-workers. I know that complex medical issues and disability make building social connections harder, make marriage and kids and all of that more unlikely. I hate that for my son, hate it – the feeling of the deck stacked so far against him at the start.

I just returned from a family conference where for the first time in six or more conferences, we spoke honestly about the pain and the craniofacial deformities. I appreciated when one young adult acknowledged that people stare, every single day. And while I don’t yet believe the “everything happens for a reason” spin, I'm grateful that when I say that “I feel like I have brought this sweet lamb of a child, my son, into this world to suffer” an old-timer dad says: “No, you’re here to make a difference.” God, I hope so.

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This and that

This is a grainy pic because Ben is a speed demon on his rehab bike and doesn't slow down -- even for photographers.

I was contacted by Catherine Calhoun who volunteer manages the RARE blog for the Children's Rare Disease Network. This is a fabulous resource with lots of firsthand stories from parents.

Parents helping kids and kids helping parents, a meet in the middle was an interesting post about how we can lose sight of what's most important when therapy dominates our lives.

Many of you are already familiar with Enjoying the small things, a blog by Florida mom and photographer Kelle Hampton. Kelle shares life with her two young daughters through stunning photography and words. She just received a national media award for her work at the National Down Syndrome Congress in Orlando.

This is a delightful interview of a mother by her 12-year-old son with Asperger's on Story Corps.

We welcome guest blogs so please send me your ideas (lkinross@hollandbloorview.ca)!

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