The Fight Against Pitt Hopkins
A Q&A with Audrey Davidow Lapidus, founder of a nonprofit dedicated to battling a rare disease.
Brought to you by Liberty Mutual's
The Responsibility Project
You’re a new parent. You read all the books all the parents read. They list the developmental milestones you should expect for your child by what age. You begin to notice your son is not hitting those milestones. You wait, and hope, because “there’s a range” in which babies do these things. Then you get your child tested, then have more tests, and soon, you’re living every parent’s worst nightmare: Your baby has a rare disease, one with no cure and no treatment. And given that only about 150 other children in the world have been diagnosed with this disease, there is little likelihood that research dollars will be dedicated to the disease any time soon.
In March of 2012. Audrey Davidow Lapidus and Eric Lapidus discovered their son Calvin had Pitt Hopkins Syndrome (PTHS), a disorder characterized by intellectual disability and developmental delays, which can range from moderate to severe. Breathing problems, recurrent seizures and distinctive facial features also are hallmarks of PTHS.
Audrey, a freelance journalist, realized she could wait and hope that someone raised money to treat or cure her son. Or she could find out about doing it herself. She recently shared her experience.
How did all of this start?
Well, at about six months, Calvin wasn’t rolling over or sitting up. No one was really worried then, except for me a little bit. But at eight months, when he still wasn’t rolling, we started to listen. We went to a neurologist and then a geneticist. And the geneticist ordered a test that doesn’t pick up everything, and it came back fine.
So I went to three different neurologists and they all said, “Let’s just wait and see — it’s probably just a delay. Everyone’s on their own schedule…”
How long did you wait?
Well, finally at about 10 months I went to a different neurologist at Children’s [Hospital in Los Angeles]. She thought he might have a genetic disorder called Rubinstein Taybi Syndrome, and she convinced the geneticist to do some more testing. And that’s when they found Pitt-Hopkins. It’s so rare that the geneticist told us that it wasn’t even one of the 500 syndromes they had to learn in school.
They only just found the gene that causes it about five years ago. So there are probably many more people who have it who were diagnosed as mentally retarded.
When you first got the diagnosis, you must have gotten online and read everything you possibly could. What did you find out there?
There was a small support group. There was some fundraising going on — they had raised about $30,000 from running 5k’s, etc.
At what point did it dawn on you that it might be up to you to pull a lot of the threads together in a time frame that would help Calvin?
It was probably about a week. I was sort of frantically thinking, What can I do? What can I do?
I felt a couple of things. One was, there were so few people diagnosed. Had Calvin been diagnosed with Autism, I wouldn’t have had to be doing this — there are already so many groups. But with Pitt Hopkins, there was just the need. The other part of the equation was…I lived in Los Angeles. I knew where all the other families lived because these two moms [in the support group] made a map. There were two people in northern California, no one in Manhattan. I knew that living in LA, I was in a much stronger position to fundraise than anyone.
We got the diagnosis on March 7  and by April 7 we had sent out our first fundraising letter.
You launched an email and Facebook campaign, held silent auctions; people drank “Cocktails for Calvin,” and shopped and donated on “igive.com”.
We raised $200,000 in six weeks. Our family and friends were amazing. People just came out of the woodwork to make donations. It was enough to fund the first two tiers of research our scientist wanted.
By September of this year, you’d raised $640,000. What else is going on?
We’ve had a couple big donations — Jose Cuervo and Bimbo Bread. But most have been smaller donations. Every little bit makes a difference. We raised $14,000 selling t-shirts. So many people have pitched in — it really feels like a group effort. A woman in Canada raised $5,000 at a bake sale, and I still don't understand how she did it. That makes me so proud. In one year we have made the progress it has taken other rare disease groups 10-15 years to make!
Have you done anything else in your life even close to this?
I think I was always a hard worker and probably had a lot of grit and determination. But it was always marred by self-doubt. With this there was just no option for self-doubt.
How do you communicate with Calvin?
I’ve learned there’s so many ways of communicating outside of talking. You can just tell. He smiles, thank God. A lot of kids with special needs cannot, but luckily PH kids are very expressive. You can see the light in Calvin’s eyes when he's happy, when he's sad. When he wants something he gestures or looks at it. I don't feel it's limited my connection with him at all, maybe made it better.
Aside from the relief that you must feel because you may have helped facilitate a treatment for your son, you must feel proud of yourself just for achieving this goal.
I guess so. I guess I would say that Calvin is my strength. He showed me a strength I didn't know I had.
As of October 2013, two-year-old Calvin Lapidus is feeding himself. Just over a year ago, no one was studying PTHS. Now, there are researchers not just from the University of Alabama, but also from Harvard, the University of North Carolina and the Mt. Sinai Autism Center. As many symptoms of PTHS are remarkably similar to those of other Autism spectrum disorders, findings from these studies have the potential to teach us about related intellectual disabilities where animal models are not yet available. So while there are only 250 kids diagnosed thus far with Pitt Hopkins, this research has the potential to impact many more. To learn more about Pitt Hopkins research, visit: http://pitthopkins.org/
Jamie Kageleiry Stringfellow is a freelance editor and writer who has written on everything from baseball to brain science for Yankee Magazine, Westways, Continental Airlines, Spirituality & Health and The Boston Globe. She also co-edits the website Weekend Walk.