Hope, Plane Rides and Research
This blog post is by Richard Fauth
It didn’t come from me. I have to admit I could never pull it off like he does. It must be because he’s half-French (his mother’s half.) Last Sunday, we had a cook-out with a family of friends at Fort Wilderness in Disney World. My 8-year-old son Lucas was at it again. Smooth. It didn’t take him long to catch the eye of a college-age girl. He took her shoes off. Before long he was riding around the campground in a golf cart with the other kids. She was driving; he was riding shot-gun. That’s my boy. The cutest little boy on the planet. Although he can say only a few words, I knew he couldn’t be happier.
Lucas has autism and some researchers find him interesting. A sample of Lucas’ DNA was tested by a commercial lab a few years ago for three autism suspect genes. Sequencing tests for the genes (CDKL5, Cntnap2 and Shank 3) were among the first to be performed. The results are what researchers find interesting — unusual variants or mutations in two of the genes-Shank3 and Cntnap2. These results also changed our lives — we left a world where things were increasingly desperate and entered a world of new found hope. Some now say Lucas may be one of the most researched children with autism in the country.
Like many parents, Marie and I spend a lot of effort trying to get the best for our child. Like many kids, Lucas’ day is filled with “activities,” although if he could speak well enough, I think he would call it “work.” He puts in a tough week – long hours of special education, speech therapy, occupational therapy, and applied behavioral therapy. But he also has some fun — “special kids” dance class on Saturday and some gym classes.
As I write this, skin cells from Lucas, Marie and me are being converted to Pluripotent stem cells at a laboratory at Stanford University. From these stem cells, the researchers will grow neuronal tissue. The research is aimed at developing drugs to improve the outcomes of many children. Another study, a paper concerning a variant in Lucas’ Shank3 gene, has already been published. We have been invited to join another study and there is other interest-full Exomic sequencing of autism suspect genes in Lucas.
Lucas has been to Boston Children’s Hospital-Harvard, Stanford University, Mt. Sinai Hospital in New York, and the Dan Marino Center in Miami. We have visited the Kennedy Krieger Center in Baltimore. Every time I see one of those “my kid made the honor roll at…” bumper stickers, I want to put a sticker on the back of my car listing all the places my kid has been to, followed by “so there!”
He’s my boy and I’m proud of him. Daddy knows; I tell him so when he gets real frustrated because he can’t speak. As hard as it is on Marie and me, it is incredibly difficult for him. We fear that this will not get any easier for him. What we know is that without effective research, it likely won’t.
Lucas can swim in our pool here in Orlando. He also loves his trampoline. The “It’s a small world after all” ride at Disney World is now second on Lucas’ list of cool things to do. First is going to the beach -especially during a “Surfers for Autism” event. These are closely followed by long airplane flights and jumping on hotel beds. The last time we went for a weekend at the beach, he threw a fit when we left-he’d just as soon hang out there indefinitely. I know the feeling.
But it is another feeling that stays with me most days. It is the feeling that when the day comes when I leave this world, I will have not done enough to make the difference needed for Lucas. This has got to be every parent’s worst nightmare — failing to be a good enough advocate. At 52, I already believe that I will never retire. I could spend my time fighting for insurance reform so that Marie and I wouldn’t have to come up with $25,000 to $35,000 each year for Lucas’ therapies and someday I could retire. Or I can spend more time doing what I can to advocate for the bigger agenda: finding effective therapeutics for children with autism.
So Marie and I pour over autism research. As part of the ongoing research concerning Shank 3 mutations, I am a proud member of the Phelan McDermid Syndrome (PMS) Research Support committee along with a group of very smart parents fighting with me to find help for our kids. Lucas does not have the deletion in chromosome 22 that causes PMS, but rather mutations in the Shank3 gene which researchers believe may cause autism.
I only wish that more parents would push for research into the dozens, if not hundreds, of autism suspect genes and the pathways that variants in these genes disrupt. I also have hopes. Hopes that more sequencing will be available and affordable in the near future. That Pluripotent stem cell, brain imaging and genetics research will answer many of the questions needed to move into effective drugs. And that research concerning speech, occupational and ABA and other psychological therapies yields improved outcomes for our children.
After watching a WWII movie last Memorial Day, I began pondering the notion of “the greatest generation.” I also recently read The Immortal Life of Henrietta Lacks about He La cells and the Herculean effort our country undertook to beat polio. I believe it is this generation’s challenge to beat the developmental disability that is autism. We are on the cusp of major findings into the causes and potential treatments for autism. Trials are underway using experimental drugs to combat Fragile X and Rett syndromes. Research is implicating mutations in many of the same genes affected in other disorders with disrupted chromosomes, disorders in which classic autism exists- such as PMS. Common pathways are emerging in the literature. For a segment of the population, we now know what causes autism. The first studies concerning children and multiple autism suspect gene mutations have been published.
It matters. What we know, where we go, how we get there. That is the sentiment on the faces of parents we meet involved in research and support for their children on the spectrum. Parents who would move heaven and earth to help their kids. A hope that comes with research.