Nobel Prize-Winning Autism Researcher Gives Natick Family Cause For Optimism

Timmy Supple, 8, enjoys pointing from his mother’s nose to his own. (Jesse Costa/WBUR)

Timmy Supple, 8, who is autistic, enjoys pointing from his mother’s nose to his own. (Jesse Costa/WBUR)

BOSTON — For Timmy and Stuart Supple, a pool is one of the best places to be. That’s where their mother thought the boys, who are 8 and 10 years old and severely autistic, would be the most calm and least stressed for a very important introduction.

“We, we, we go see the doctor?” 10-year-old Stuart asked his mother.

His mother, Kate Supple, tells him the man standing in front of him by the pool is the doctor. Dr. Thomas Sudhof has never met the boys, but he wants to see their autism unchecked.

Sudhof isn’t a pediatrician or one of the myriad of therapists trying to get into their world and bring them out. The Stanford University neuroscientist — who this year shared the Nobel Prize in medicine for his decades of study into how brain cells communicate — has been studying Tommy and Stuart’s genes, specifically an alteration in one gene, for five years. The Supples hosted Sudhof Wednesday night at a Boston fundraiser in support of his research into the functioning of brain synapses in autism.

Stuart Supple, 10, foreground, and his brother, Timmy, love spending time in pools. That's why their mother, Kate, left, thought it would be the best place for them to meet Dr. Thomas Sudhof, the man whose been studying their genes for five years. (Jesse Costa/WBUR)

Stuart Supple, 10, foreground, and his brother, Timmy, love spending time in pools. That’s why their mother, Kate, left, thought it would be the best place for them to meet Dr. Thomas Sudhof, the man who’s been studying their genes for five years. (Jesse Costa/WBUR)

“This time last year, you wouldn’t have thought the Red Sox were going to be playing in the World Series. So there’s always room for optimism,” Chris Supple, the boys’ father, told the crowd at the event. “And who would have thought that we would have a leading autism researcher winning a Nobel Prize? So there’s reason for optimism there, as well.”

According to the Supples, Sudhof’s work is helping conquer the “defeatism” surrounding the neurocognitive disorder.

“He doesn’t think this is unknowable at all. He thinks that it’s very knowable,” Kate Supple said. “We all put so much time and effort into dealing with the symptoms of autism. But you also have to look to deal with the underlying disease.”

For many parents of children with autism, the disorder is a mystery. They have no idea what caused it and focus on therapies to help address the symptoms. But after the blow of both boys being diagnosed before their 2nd birthdays, the Supples sought out private genetic testing without the encouragement of their doctors.

“It did seem to Kate and I very odd that with no history of autism in either family, all of a sudden we went two for two in the autism lottery,” Chris Supple recalled. “And we kind of thought, ‘Why isn’t there any medical curiosity about this?’ ”

The testing revealed both boys have a mutation – or alteration, as their parents prefer to call it — in a gene known as neuroligin 4, which produces a protein critical to communication between neurons.

Chris Supple, left, and his wife Kate, center, speak with Thomas Sudhof, right, whose been studying their son's genes for years. (Jesse Costa/WBUR)

Chris Supple, left, and his wife Kate, center, speak with Thomas Sudhof, right, whose been studying their sons’ genes for years. (Jesse Costa/WBUR)

The Supples went looking for researchers studying that type of gene and found a team led by Sudhof. In 2009, he and his colleagues published a journal article concluding the genetic alteration caused the brothers’ autism. But they’re still working to determine how and why.

“We know a lot of genes where alterations in the genes predispose to autism,” Sudhof explained to the audience at the fundraiser. “But we don’t know how these alterations actually cause the behavioral impairments that we see.”

And researchers don’t know if all cases of autism are caused by a genetic defect, or why it affects only some cognitive functioning while motor function, for example, remains intact.

“Here what we have is a selective change in parts of what the brain does, but most of the brain works perfectly well,” Sudhof said.

Scientists do know the same genetic alteration can cause very different symptoms, even in siblings.

Stuart, the older but smaller of the two brothers, can speak. But he’s still very limited in how he communicates.

“Please, wanna go in the white van?” he asks his mother, referring to the van that takes him to school. He then announces enthusiastically, “The boys want to go to Storyland!” — a reference to the New Hampshire amusement park the family visited a few days prior.

Timmy is non-verbal and tends to wander the house searching for things to “get into,” as his mother says. He stops only briefly, for his father to push him in a mesh swing that hangs in a kitchen doorway and to ask for “t-t,” his word for tickles.

Sudhof’s research provides the Supples a much-needed cause for optimism, they said.

“The kids have a long life, and I’m not expecting any kind of cure or any major meds in the short term,” Kate Supple reflected. “But, you know, they’ll be around for 70 more years, and I know there’s going to be something in those 70 years that’s going to really change the biological basis and let them be able to care for themselves and go to some job that they enjoy. And I think that’s the promise of brain science and autism.”

The Supple family outside their home in Natick. (Lynn Jolicoeur/WBUR)

The Supple family outside their home in Natick. (Lynn Jolicoeur/WBUR)

The couple says their mission now is to urge more autism families to get genetic testing, which they acknowledge is expensive and can require creative financing or an insurance fight. Right now, less than a third of families get it.

Sudhof applauds the idea, but he wants parents to know they’ll see no immediate benefit from genetic testing. Down the road though, he says, it might contribute to research that helps their children or someone else’s.

“The magnitude of the problem of trying to understand what can go wrong in the brain is enormous,” Sudhof said. “And I do think it’s an investment that’s well spent, especially since the cost to the country is just horrendous.”

Chris Supple describes the disorder’s toll on his family as immeasurable.

“Autism has taken a great deal away from our two little boys. And it’s thoroughly changed my wife’s life and my life, and our family’s life,” he reflected. “But if we were to be involved in something that were to be a good thing for all these tens of thousands of people out there who have autism, that would take the sting out of it a little bit.”

And after five years of studying Stuart’s and Timmy’s genes from afar, Sudhof said he’s happy to put a human face on what has become his life’s work.

Donate to the Supple Fund for Sudhof Autism research

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  • Anne Dachel

    A once rare disorder is now so common that everyone knows someone with an autistic child.
    The rate of autism is always based on studies of children.
    No one has ever found a comparable rate among adults, especially adults with severe autism whose symptoms can’t be denied.
    Stories are out regularly out about training teachers, librarians, school bus drivers, EMTs, fire fighters, police, airline staff and others to deal with autistic individuals. In the face of this, Dr. Sudhof tries to convince us that studying genes will explain what’s happening.
    Are we to believe that kids are born autistic? Why then do thousands of parents report that their children were born healthy and were developing normally until they suddenly and dramatically lost learned skills and regressed into autism? When a happy, thriving toddler stops talking, stops being potty trained and starts having seizures, doctors can’t explain it.
    Millions of dollars have already been spent on dead-end genetic research. It’s time we honestly and thoroughly addressed the environmental triggers that cause these genetically susceptible kids to develop autism.
    If Dr. Sudhof thinks the cost of autism is “just horrendous” right now, he needs to look ahead to what the taxpayers are going to have to pay to support this generation of disabled children as adults.
    Anne Dachel, Media editor: Age of Autism

    • Barry64

      Which is a good example of why I don’t read Age of Autism. Dr. Sudhof, a Nobel laureate, is following what appears to be a solid lead, yet Ms. Dachel objects, because it doesn’t seem to her to fit her narrative of what causes autism. When the causes of autism are better understood, through solid research such as Dr. Sudhof’s, it will be clearer what role environmental factors might play. And if turns out that the Supple boys are helped without any environmental factors being identified, would that be a bad thing?

    • lilady R.N.

      Children are indeed born with autism, Ms. Dachel. Just because you and Age of Autism deny that fact and hold to the thoroughly debunked theory that vaccines cause ASDs, does not make it so.

      You keep droning on about your personal experience of not seeing any autistic children when you were growing up. It has been pointed out to you, when you post that same old anecdotal story that autistic children were classified differently when you were growing up. Children with significant intellectual impairments and autistic-like behaviors were classified as “Mentally Retarded”. Children who were far less impaired were classified as “learning disabled”.

      Prior to the passage of PL94-142 “The Education of All Handicapped Children Act, children with autism and other developmental disabilities were not guaranteed a free, appropriate, education paid for with public tax dollars.

      Many developmentally disabled children were placed in large developmental centers and psychiatric centers at a young age (out of sight and out of mind), which were in essence human warehouses, which has also been pointed out to you, many times. I have even linked to online videos showing the deplorable inhumane care that was provided at Willowbrook Developmental Center. Those were the same conditions, I found when I visited the back wards of State developmental centers and psychiatric centers more than 30 years ago, when I embarked on my personal advocacy for young son who was born with a rare genetic disorder…and on behalf of all developmentally disabled children and adults in my State.

      I want to convey my best wishes and thanks to Mr. and Mrs. Supple, their sons Timmy and Stuart, and Dr. Sudhof whose collaborative scientific investigation will add to the growing body of evidence linking de novo gene mutations to the onset of ASDs.

  • Melissa Welin

    I wouldn’t say there is no immediate benefit for genetic testing. Approximately 6% of children with autism have fragile X syndrome and there are very specific educational and behavioral interventions for children with fragile X that are more appropriate for that subset of kids than ABA or ABA style interventions. Finding the right instructional style/ behavioral intervention for a child with fragile X is tremendously beneficial.

  • yankeegirl1

    My son who has autism had a chromosomal microarray analysis done and it came back “normal” per the lab results. We have no family history of the disorder. Even if my son carries hidden mutation(s) not uncovered by the test, it would only indicate a risk for autism not the cause. I was glad we had the genetic testing done because it confirms in my mind that we are dealing with a toxic exposure that is impacting our childrens neurodevelopment. Poisoning is the elephant in the room noone wants to talk about. Genetics is safe. I don’t think you can have a completely honest discussion about autism without including environmental exposures. Autism now affects 1 in 88 American children and 1 in 54 boys. Genetics alone cannot account for the enormous increase.

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