allison hanes: for 7½-year-old thomas, there is no cure and no therapy
for most of his young life, thomas has been under the care of specialists at the montreal children’s hospital because of zellweger syndrome, a rare genetic disease.
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thomas thériault turned 7 1/2 years old last wednesday.
he was very tired that day, said his mom, marie-michèle arpin, so he mostly spent quiet time snuggling with his family members at their home in new brunswick.
turning 7 1/2 is an occasion to celebrate for thomas, given he was in the hospital on his seventh birthday and doctors told his parents when he was just seven months old that he might not live to see his first.
but thomas has been charting his own course since he was diagnosed with a rare genetic disease called zellweger syndrome. it’s a degenerative disorder that affects multiple bodily systems and has progressive symptoms like hearing loss, vision impairment, liver problems and gastrointestinal bleeding.
for most of his life, thomas has been under the care of specialists at the montreal children’s hospital. but there is no cure and no therapy, although researchers at the mcgill university health centre research institute are working hard to develop a treatment.
a breakthrough can’t come soon enough.
***
the first signs something wasn’t right were that thomas was very small, wasn’t growing and had difficulty feeding, his mother said.
“he didn’t sleep much, he cried a lot, he seemed like he was in pain, but i couldn’t figure out what it was exactly,” arpin said. “we went to the er many times, plus we had followup visits with the doctors after his birth. every time, everyone told me it was ok, that it was probably colic. the last time, i had to get a little bit angry with the doctor and demand that thomas get some tests and see a specialist.”
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when an ultrasound was finally performed, it showed thomas’s liver was double the regular size for an infant, especially one so tiny. blood tests also showed worrying signs. thomas was transferred to the centre hospitalier de l’université laval in quebec city. after one month of inquiries, he was finally diagnosed with zellweger.
“they said it was the more severe type and that we probably only had a few more months with him, that he wouldn’t make it to his first birthday,” said arpin. “you can imagine the pain a parent feels, but living it is a whole other story.”
they were sent home so thomas could receive palliative care. but arpin would spend sleepless nights scouring the internet for hope. she found it in dr. nancy braverman, an expert on genetic peroxisome disorders at the muhc research institute, only seven hours away.
within a day of reaching out, arpin was speaking to her on the phone. within a week, thomas was at the montreal children’s.
unfortunately, the diagnosis of the most severe form of zellweger was confirmed.
“it was very difficult for them to tell us what they thought might happen to thomas,” arpin recalled. “they said, ‘thomas is going to determine his own story. we’ll follow him, we’ll help the best we can.’ and that’s what we’ve been doing since he was eight months old.
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“having found dr. braverman and her team was a little balm on the heart. it reassured us a bit because dr. braverman is one of the most recognized specialists in the world for this disease. so we knew we were in good hands.”
braverman, a professor in the department of pediatrics and human genetics at the montreal children’s, and a senior scientist at the muhc research institute, has studied and worked with more than 200 patients who have zellweger and other peroxisome disorders, which affect metabolic function.
her lab is conducting the largest study in the world gathering the medical histories of children and adults with the disease. she just received funding for a new study to follow patients on a yearly basis.
“we need to better understand the natural history and it’s really variable, as we’ve been learning — much more variable than we thought between individuals with the same gene change and even within the same family,” said braverman. “individuals have different clinical severity.”
her laboratory is also developing a retinal gene therapy aimed at arresting the loss of vision so many zellweger patients experience.
“the most wonderful end of my career would be to actually get a therapy to these patients,” said braverman.
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when she first examined thomas, braverman said he was in rough shape. although there’s no treatment, some of the side effects of zellweger can be mitigated if the disease is caught early.
“by the time he was diagnosed, he had a significant liver disease and a fat-soluble vitamin deficiency … a vitamin d deficiency causing rickets (poor bone growth that can cause deformities),” she said. “we would have prevented that.”
braverman also discovered something very unique about thomas: he has changes to not one, but two peroxisomes — the only known case in the world.
“thomas is really the only patient we’ve ever seen with two changes in two pex genes that interact with each other. and again, one of the parents is a carrier for one of the pex changes and one of the parents is the carrier for the other,” she said. “he kind of had a double whammy, which is really, really unusual.”
with all the unknowns, the last seven years have been a roller-coaster for thomas and his family, arpin said, but they take things “one day at a time.”
thomas has been in and out of hospital with serious complications. but he has also made remarkable progress.
he learned to sit up at 18 months.
“after that, he learned to crawl. he would move all around the house. even if he didn’t see well, he’d crawl,” said his mother, who shares what it’s like living with a rare disease on tiktok, using the handle @lespetitspasdethomas. “then we had the walker and he started walking with the walker, but he’d run into the walls and break things because he couldn’t see. if he stopped, it was because he’d hit a wall.”
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thomas mastered a few words.
“we’ve never been able to have a real conversation with him, but he was capable of saying a few words: maman, papa, mémère, pépère,” arpin said. “he would say ‘chat’ for his brother lucas. he always called him ‘chat.'”
over time, his vision faded.
“when he was a baby, thomas was able to look us directly in the eyes,” said arpin. “then later, it got to a point where we realized the only thing that thomas could see was light. … he always looked toward the windows, or if we had the ipad out he always turned toward the screen.”
his hearing loss has also gone from mild to moderately severe. but despite all that, his mother said he has always been a sweet, happy child.
“he’s always smiling. even if it’s not going well, he looks for a reason to laugh to make us feel better. he would caress us when he could tell we weren’t doing well,” she said. “he’s a little boy who is very, very loving.”
perhaps thomas’s greatest triumph came last november.
“thomas took his first steps all on his own,” said arpin. “we felt such enormous joy. we were so happy that he succeeded in reaching this milestone.”
two weeks later, he had his first epileptic seizure and was in a coma for three days.
while he seemed the same, if tired, when he awoke, the seizure was a turning point.
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“in february we found he was having trouble holding up his head, so we contacted the team in montreal and we went,” said arpin. “it was at that moment that we learned that thomas had an aggressive leukodystrophy, and since then he’s degenerated very quickly.”
leukodystrophy, the destruction of white matter in the brain, affects about 10 per cent of patients with zellweger, said braverman. it results in the erosion of brain function and can eventually leave sufferers in a vegetative state.
unfortunately, braverman added, the type thomas has is “the worst kind, which is really the terminal kind. it’s a rapid, inflammatory degeneration.”
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thomas is now home receiving palliative care.
“he’s not doing super well,” said arpin. “thomas can’t really move. his breathing is more difficult. that’s pretty much the situation. we always have him in our arms.”
she stepped away from the hiss of machines at thomas’s bedside last week to tell his story in hopes of raising awareness and encouraging people to donate to braverman’s research.
“it’s the only thing we can do. we’re so powerless in the face of this disease,” said arpin. “the research done so far can’t save thomas, because there’s no treatment, but we hope that one day, if we talk about it enough, there will be a treatment, and other families won’t have to live through what we’re living through at this moment.”
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