Ellen Feldman has a passion for increasing research in the intellectual and developmental disabilities (IDD) field and continuing her ongoing advocacy in that arena. She currently serves as the Central Region Vice President for The Arc New York, and as a member of the Board of Governors and Executive Committee.
So, what inspires Ellen to devote her time and energy to this field? The answer is simple – her son.
Ellen’s son, Matthew, is 40 years old; he receives supports and services through ACHIEVE, a chapter of The Arc, and has lived in a group home since he was 21. When Matthew was 14 months old, he was diagnosed with IDD and several associated symptoms – all with an unknown cause.
“We went to see the head of pediatric neurology at Columbia Presbyterian Hospital many years ago, and they couldn’t tell us what caused Matthew’s IDD,” Ellen said. “They couldn’t give us a real diagnosis. They basically told us that he’s going to be significantly delayed – he’ll never go to college and he’ll never drive a car. This news was crushing, of course. So we stumbled our way around, got him into early intervention programs, and did whatever we could.
“We’ve been down the path of lots of different hospitals and development centers, always looking – not for cures – but for ways to help him live his best life,” she said.
Ellen reached out to The Arc New York network for recommendations of an objective third party that might help her gain more answers. Ellen connected with a geneticist at Columbia Presbyterian Hospital, and was sent an at-home genetic testing kit. Her family did a series of saliva swabs and returned the package to be analyzed.
On Labor Day Weekend, she received a call that her son has a rare genetic disorder called SynGAP1.
There is currently no cure or specific treatment for the underlying condition that causes
SynGAP1. However, learning more about the symptoms related to the genetic disorder can help individuals find relief and better understand how to manage them. For instance, Matthew has been having staring seizures for a while, and when he comes out of these seizures, he has aggressive episodes.
“There was an incident where Matthew was staring at another individual, staff asked him to stop staring, and he wouldn’t stop,” Ellen said. “This continued until he all of a sudden got aggressive and angry. We now know that when you come out of a seizure, there’s a period of delirium where you’re confused and don’t know what just happened – this confusion triggers an aggressive response. Recognizing these symptoms and being calm instead of admonishing Matthew can help prevent these situations from happening.”
Genetic testing can also lead to the discovery of secondary conditions connected to SynGAP1. Ellen learned her son is at a higher risk of colorectal cancer, and as a result, he’s going for his colonoscopy and endoscopy at the age of 40 instead of 45, the recommended age for those not at risk.
Ellen understands that some might be apprehensive about genetic testing, especially when it can cost upwards of $3,000. However, she wants to share an opportunity for individuals to potentially get free and convenient genetic testing at home.
She discovered Probably Genetic, a company offering free genetic testing paid for by sponsors. The company’s website provides people with a questionnaire to determine if they are eligible for free testing. A physician reviews the answers, and if the person is considered to be a good candidate, they are sent a test that only requires a saliva sample. The test is returned with prepaid shipping and analyzed in the lab. In about eight weeks, a geneticist calls to review their clinical genetic report.
The SynGAP Research Fund also notes these genetic testing options:
- Ambit provides free access to genetic counseling and testing to all patients who qualify. Testing is available in all 50 states and is open to all ages. Qualifications include: children age seven and under with at least one seizure; or anyone over seven with at least one seizure, one developmental delay and on at least one seizure medication.
- Invitae’s Behind the Seizure free genetic testing program is offered to any child in the US or Canada under the age of eight years old who has had an unprovoked seizure. Australian residents can visit this website.
SYNGAP1 mutations are suspected to be the underlying cause of approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID, similar to more well-known syndromes like Fragile X, Angelman and Rett Syndrome.
SynGAP1 mutations are significantly underdiagnosed. The disorder was only discovered in 2009, and testing didn’t begin until 2015, so any genetic testing completed before 2015 would not have shown SynGAP1.
Additionally, many families receive a diagnosis like autism, intellectual disability, or epilepsy and stop their diagnostic search, thinking they have reached a conclusion.
“I stopped looking for a diagnosis and a cause years ago and just focused on what I could be doing for my son,” Ellen said. “The more information we can load into research databases the more data there is for researchers to use. We’ve got to continue looking ahead to the future and always be thinking of what more we can be doing.”
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