By Megan Jones
It seemed to come out of nowhere. Only in retrospect, Andrew Sedmihradsky says, did the signs of his son's disease become clear. It started after Max (in cargo bike above) learned to walk. Andrew, along with his wife, Kerri, noticed their son would fall often—and hard. Still, being first-time parents, initially, they didn’t worry.
The falls didn’t stop, so the pair took Max to see a few different doctors. But when none of the professionals seemed too anxious about their son’s tumbles, the couple, who lived in Australia at the time, decided not to overthink the situation.
Then, in June of 2013, a daycare worker who had noticed Max’s lack of balance approached the family, insisting they bring the youngster to a doctor one more time. Soon after, Andrew took a few hours off work to bring his son in for an appointment with a pediatrician. Even that day, he felt unconcerned. We’ll get this over with, then do something fun for the rest of afternoon, he remembers thinking.
But after examining Max, the doctor quickly suggested the boy may have muscular dystrophy. The family was referred to a nearby hospital, and a few days later, a blood test confirmed the Andrew and Kerri’s worst fears: Max had Duchenne muscular dystrophy.
Duchenne is a life-limiting genetic disorder that causes muscle weakness because the body can’t make a protein called dystrophin. Duchenne weakens the legs and hips, and eventually the heart and breathing muscles.
“It was just devastating. It was impossible to sleep,” Andrew says “We had to listen to podcasts just to take our minds off of what was happening.” For a while the couple felt inert with shock, anxiety, grief. Finally, sick of feeling helpless, Andrew insisted the family get out and do something fun. They went to a museum in Melbourne. It felt good to get out of the house.
“All we’d done up to that point was wait” Andrew says. “Although it hadn’t been very long, I felt it was important to get up and fight this.”
Last year, since moving to Canada, the clan started Max’s Big Ride, a charity bike ride to raise money and awareness for Duchenne. All proceeds go to Jesse’s Journey, a registered organization committed to finding a cure for the disease.
For the past two summers, Andrew has steered a carrier bike (with Max—now five years old— in the front car, naturally) 600 km from Ottawa to their current hometown, Hamilton, Ont. Kerri, Andrew's parents and Max’s baby sister, Isla, have followed along in a van, delivering food and drinks, providing emotional support, and sorting out accommodations.
The family has also hosted Max’s Big Climb, a competition where professional cyclists collect sponsorship and race up a steep hill in Dundas, Ont.
Together, both events have garnered donations from places like France, Japan, the States and the U.K., and so far, the family has raised upwards of $100,000. They’ve also attracted the attention of a few prominent Canadians: recently, Max received a letter from Prime Minister Justin Trudeau, and this summer, he met with Toronto Mayor John Tory.
“It seems a bit surreal,” Andrew says. “Last year I created a website for Max’s Big Ride in my basement. I wasn’t sure if it would take off. And now the leader of our country knows about it.”
Andrew says the event was inspired by the bike rides the family used to take when they lived in Australia. Max loved sitting close to his father as he pedalled around. A long ride seemed like the perfect way to get attention for Duchenne, while providing ample time together. They keep each other company on the road, Andrew telling stories and Max talking about his hopes for the future (he says, for example, that he wants to start a band with his family).
On top of successfully raising money, Andrew says he’s found comfort and hope along the road. As they pass through cities, they’re regularly greeted by fire departments or groups of volunteers. Sometimes, they’re given food or other gifts—everyone wants to chip in. Most inspiring is when Andrew meets parents whose own children have muscular dystrophy. Often, he says, they insist on donating to Max’s ride.
Since the past two rides have been such positive experiences, Andrew says he hopes to do another next year to continue getting their message out. In particular, he hopes to get the attention of more politicians. As more experimental drugs become available, he says, families will need government support to cover costs.
***
While Andrew and Kerri are educating Canadians about Duchenne muscular dystrophy, they’ve yet to talk to Max about his disease.
Max knows his muscles are weaker than other kids,’ Andrew says, and that’s why he takes medication. But he hasn’t asked about an underlying cause.
They've decided to cross that bridge when they come to it. It’s an attitude Andrew tries to apply broadly while parenting a child with disabilities. “I try not to think about the worst-case scenerio, or fantasize about the best-case scenario,” he says.
He recommends that parents whose children have disabilities give themselves breaks, and that they reach out to others for support whenever possible. For him, the key to staying hopeful while continuing to address the difficult realities is to take things one day at a time. “I try to focus on the here and now, because that’s what I have the power to change.”
I think that there’s hope,” he says. “I wouldn't be doing this if there wasn’t.”
Follow Max's family on their blog.
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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