Alex Undiagnosed: A Neurodegenerative Disease Goes Unnamed
March 1, 2017
It’s been ten long years and no one knows what’s wrong with Alex.
He’s been gradually worsening due to a progressive neurodegenerative condition that no one can seem to put a name to. Alex used to be able to talk, walk, and swallow—but in his current state he has to use his eyes to dart between yes and no flashcards. He is home schooled for an hour every day, but lately he’s been falling asleep halfway through his lessons as a result of nightly muscle spasms that keep him awake and in pain.
His mother and father have devoted themselves completely to the task of handling his disease. They have traveled around the world—even going as far as to have Alex’s genome sequenced three times to no avail.
Though he had gradually lost his ability to communicate and walk, it wasn’t until 2015 that the Yiu’s considered his condition to be dire.
“Two years ago he ended up having G-tube surgery,” says Alex’s mother, Carol. “Previously, we were able to have him on puréed foods, but then one night he had a really bad seizure and it affected his ability to swallow so we had to proceed with the G-tube surgery.”
During that first year with G-Tube feedings the entire family rallied to help Alex persevere through the complications.
“He was in the hospital 10 times that year. He had multiple issues with feeding and breathing. Ironically, they said with the g-tube he wouldn’t aspirate food but he was throwing up a couple of months after the g-tube surgery and he ended up coming down with pneumonia three times. He was in the hospital a lot and of course no one could really figure out what was going on, he had feeding intolerance and one thing lead to another. Then he started losing weight,” recalls Carol, “It was a tough year.”
The nurses and doctors in the emergency room had gotten to know Alex by name. They were familiar with his warm smile and Power Ranger pajamas—but as often as they found him in their care, they were lost as to how to help him. Worse still, the longer Alex stayed in the hospital—whether on the pulmonology floor or the ICU—he was vulnerable to infection. He kept winding up in the same cycle: have an emergency, get admitted to the hospital, start treatment, start to improve, then catch some kind of virus or cold and become vulnerable all over again.
It wasn’t until home nurses entered the picture over the last year that things began to improve.
“Initially we had no nursing,” says Carol. “He was going to school, but after getting sick that many times, we ended up doing home schooling. That’s when we started to have a home nurse during the day, five days a week.”
Alex even has night nurses come in at times, but it wasn’t always like this. Because of Alex’s lack of diagnosis Carol and her husband had to fight with private insurance who wanted to take away the nursing care—they weren’t sure he “needed” it. It took some paperwork, a powerful letter from a physician, and many phone calls—but eventually they were able to receive what they required.
Research and Teamwork
After the first four years seeing some of the top neurological specialists in the world the Yiu family had started to lose hope. Though they had found a gene mutation during sequencing, it meant little to nothing. Nobody else seemed to have the same mutation and there was no way to tell what exactly was coming next. Alex didn’t respond to symptomatic treatment in the way he should have. His albuterol nebulizer treatments were giving him allergic reactions and his G-Tube kept venting up blood. The Mayo Clinic, UCLA, the NIH- none of them could pinpoint Alex’s condition—none of them could predict what the next few years would be like.
It was up to Caroline to move the mountains, but she couldn’t do it alone.
She began assembling a team and brought together a group of eight researchers, doctors, and specialists from all over the world. Together they would meet on a regular conference call and try to brainstorm Alex’s diagnosis.
“With the three genes The Clarity Challenge narrowed down for us one gene, the runx3, which is the gene that has been worked on even before we started the Clarity Challenge. We have a researcher out in Singapore that’s been working on runx3. That gene at the moment is probably the only one where we have something happening as far as research. The other two genes, don’t have much being done on them.”
A Day in the Life
Two years ago, during Alex’s tremulous series of hospital stays he was placed in hospice care. His doctors weren’t optimistic, but Alex pulled through.
He graduated back to palliative care, but the focus was always to keep Alex as comfortable as possible as both hospice and palliative care have their benefits.
“With hospice there’s more support with the technical issues like ordering supplies. There’s a nurse that comes and sees how he’s doing and changes his medications. There’s less work for me to contact each supply company—and all his supplies seem to come from different companies! With hospice there’s a lot more support. They help you with all of that so you can focus on being there and caring for your child. They also have programs like pet therapy. Which, I think, are all beneficial aspects of hospice. They also had a counselor that came out to talk to my daughter, Elaine, and offered spiritual counseling.”
We discussed whether or not she felt like parents were scared of the concept of hospice or palliative care.
“We were offered palliative care first. It wasn’t offered to us as a way of ‘giving up’ it was a method of support,” she says. “Before we had palliative care I was on the phone with different supply companies and insurance companies all day. But with palliative care, they helped me be able to get off the phone and care for my son. I think there’s more of a stigma with hospice.”
She would take the same road again if she had to. Both programs were a light in the dark when dealing with the overwhelming stress of caring for a medically complex child.
Still, Alex has a team of doctors on his side including a palliatve care doctor, a pediatrician, a neurologist, a pulmonologist, a gastroenterologist, rehabilitation, and orthopedics. It’s a whirlwind of specialist to keep him stable.
Advice for Other Parents
“Sometimes the doctors just don’t know what to do at a certain point, but I look at them and say, ‘well, you have to try!'” Carol knows the frustrations of trying to fit a lifetime worth of medical anomalies into a consult. Her most powerful tool? A video, just three minutes long, that compiles all of Alex’s history.
“I’ve shown it to doctors in the emergency room, to medical students, to researchers, we’ve even used it during his school IEP meeting,” says Carol. It serves as a living CliffNotes of his medical history. Carol also suggests having a list of their medications, the size of their suction catheters, a list of their other doctors. Even though these tools have all proved invaluable, the most important advice she has for other parents?
Creating a Community
It’s been about two years now since Carol started a group for undiagnosed families to meet and share information. It’s become a essential source of referrals, support and care for undiagnosed San Diego families.
“Back in 2014, I began to collect and meet and find a lot of helpful resources locally. Knowing what I was going through with Alex, I thought it was really heartbreaking to know that maybe there was some other family out there that didn’t have the resources or connections I found,” says Carol.
“I started off very simple. I just wanted to gather up any undiagnosed families out there and share resources. We started off meeting at a park, our kids could play and the parents could share resources and information. Later on, as I got to meet more people, the meetings evolved to meeting four times a year. The local Ronald McDonald House is very generous to give us a meeting room for free and we’re able to have official meetings where we have a presenter come in and talk about one particular topic.”
“So the parents would come and listen to the conversation and then have a Q&A and talk while the kids would be outside playing. A couple of Alex’s old elementary school teachers would help out with the kids so that parents could focus on the topics at hand. It’s wonderful, we’re slowly growing. Just this year we had three new families inquire, now that we have an official website and we’re posting more information. Everyone that’s come has found some usable information.”
One of the projects the family became involved with was the Undiagnosed: Medical Refugees Documentary—a long awaited project that’s been floating throughout the rare and undiagnosed disease community for several years.
“We were one of the five families that were filmed,” says Carol, who says they became involved during Alex’s time with The Clarity Project.
The documentary’s site describes Undiagnosed: Medical Refugees as a film about what it is like to exist in a constant state of unknown, struggling with undiagnosed illnesses and rare diseases as medical refugees in a modern health care system. The film aspires to bring objectivity to this controversial and timely subject by interviewing doctors, medical administrators, and people, both children and adults, who have the misfortune of suffering without a diagnosis. Research and professional opinions combine with gripping stories into an incredible narrative that showcases the strength of the human spirit and the need for change in our medical system.
You can learn more about the Undiagnosed: Medical Refugees documentary here.
Undiagnosed For Now
“It’s hard to convince researchers to research on something that’s only for one patient, when there’s nobody else,” says Carol.
Though they haven’t found exactly what they’re looking for just yet, Carol is optimistic that they will find a way to diagnose Alex. And she hopes to help as many undiagnosed families along the way as she can. It’s safe to assume Alex’s story has made an impact on every doctor, researcher, scientist, and fellow patient that have been lucky enough to cross paths with him. It’s also clear that Alex was given parent advocates who show strength, determination, and courage in the face of uncertainty.
We will continue to update you on Alex and Carol’s journey towards his diagnosis. To learn more about Carol’s San Diego Undiagnosed Group you can visit them online here.
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