Caroline Bilal is the mother of Yonas, an 8 year old SynGAPian, and supporter of the SRF blog and parent stories.
Caroline: Tell us a bit about how you got involved in the making of this movie?
Jess: When your child is diagnosed with a rare disease, for the next 24-48 hours you kind of live their whole life, fast-forwarded, entirely in your own head. The day my daughter was diagnosed her doctor emailed me a journal article. It contained a two line description of a patient with a similar disease presentation as my daughter’s. This patient had been diagnosed as an adult, by chance, because of his daughter’s significant developmental delays. The article simply said: “dropped out of school, suffers from depression, lives on disability aid”. Is that my daughter’s future? Is that the best I can hope for? Is that the worst I can hope for?
Since then I’ve often wondered about the adults with my daughter’s disease: SYNGAP1.
Since SYNGAP1 patients are almost always random de novo genetic mutations, meaning, this mutation happens by chance or at random, then statistically there are almost as many adults out there as children. But where are they? Who are they? How are they faring? What can they and their loved ones teach us about how to best care for our children? How can we help them and their families? Unfortunately, until genetic testing for adults with developmental disabilities and epilepsy becomes the standard, we will only find them by chance.
This is also what happened to Caren. At the age of 64, Caren underwent genetic testing for reasons unrelated to her SYNGAP1 symptoms and was finally given a formal diagnosis after her family’s long search for answers. With that diagnosis, Caren is the oldest diagnosed person we’re aware of with SYNGAP1 and instantly became a celebrity within our community. Many parents believe that Caren’s experiences shed light onto our own children’s future. Our community’s fascination with Caren, her family and her life lead to an outpouring of support for the development of a documentary and I was lucky enough to be asked to join Caren and her family as the voice of the Syngap Research Fund in the movie.
While I was excited and honored to be asked to participate, deep down I was also nervous to meet Caren.
Weeks later I found myself on the train to New Jersey, from New York City’s Penn Station. I was headed to the film set of Daniel Defabio and his crew who were going to direct Caren’s movie. I had a lot of mixed feelings. Was I going to be able to hold it together meeting Caren, her sister and guardian, Nancy, and Daniel the director – who himself had just lost his son not too long ago to a different rare disease? My worries were exacerbated by my concerns that I could somehow infect the crew or anyone on the set with COVID-19 (without even knowing it!). After all, Caren had just recovered from some of the most adverse effects of the virus.
C: Where was the movie filmed?
J: We all met at Caren’s group home in New Jersey and most of the film footage was captured outdoors in her garden on what ended up being a lovely Fall day. Nancy and Daniel’s incredibly welcoming and warm demeanor immediately put at ease any worries that I had. Nancy was just as wonderful as she had seemed on the phone. The group home was beautiful – not at all like what I had imagined. I had an outdated idea of what these group homes might look like and I was surprised to be proven wrong. You wouldn’t think it’s a group home except there was a people carrier parked in the driveway. Just a regular suburban ranch/bungalow adapted for the residents’ needs. Caren has her own area of the house with 24/7 care, all her therapies are provided at-home, there’s lovely landscaping and a beautiful peaceful garden for the residents to enjoy.
C: Were you nervous at all to be on film?
J: I wasn’t nervous about being on film, though, what posed to be a bit of challenge was my goal of answering the interview questions in a way that would make sense for existing diagnosed families, newly diagnosed families, undiagnosed families, and people new to SYNGAP1 so they would understand our kids’ challenges. After being immersed in SYNGAP1 for a while, I felt it was hard to pull myself back into what it was like “before” knowing much about it. In my head and when I found myself responding to some of Daniel’s questions, I was imagining a newly diagnosed family watching this film after receiving the news and so I wanted to speak directly to them, while also speaking to the physicians who may not have been convinced of the value for adults to have their DNA sequenced
You don’t see this in the film but I was speaking directly to Daniel during most of the film when you see me speaking. Daniel had recently lost his son Lucas to a neurodegenerative disease called Menkes. It was tough for me to talk about how terrible living with a broken copy of SYNGAP1 can be, with childhood epilepsy, the development of self-injurious and aggressive behaviors, cognitive and medical challenges.
And here we have Caren who has survived to be 64 years of age, while my daughter has a milder presentation (she can walk and talk). So a little bit of imposter syndrome, if that makes sense. I often think of SYNGAP1 as an imposter syndrome to some extent, as I see our community fighting to get SYNGAP1 noticed by the research and pharma community against all these other neurodegenerative diseases where kids are dying. I get this feeling of… well perhaps these other diseases should be addressed first. On the other hand, I see how members (especially caregivers) in our community struggle through the management of SYNGAP1 – parents being forced to leave their jobs to pursue child-advocacy full time, endless fight with insurance to cover necessary treatments (some even ending up in bankruptcy), growing tensions between parents (some ending in divorce) as families are sometimes forced to put their whole lives on hold to deal with the negative side-effects of this developmental disability. It certainly isn’t easy!
That said, Nancy, Caren’s sister, was keen to focus on the positive parts of Caren’s story, and of course, as SYNGAP1 is a devastating disease, we needed to explain that very carefully. As with explaining a lot of the aspects of SYNGAP, we are dealing with very complex topics that have to be simplified just enough and accurately enough to make it accessible to patients and their families, which is not an easy task.
C: What was most memorable to you about the filming itself?
J: During filming, I was worried Caren was in the sun too long or that we were bothering her with all the filming. It was fascinating having the chance to chat with Caren directly and asking her questions. She didn’t reply much that day but gave me soul piercing looks and smiles. I remember thinking Caren was able to call Nancy by her name when she wanted her attention, something my Hannah can’t do. I also really wished there was something I could do to help Caren colour with crayons. She was really trying hard but her fine motor skills have deteriorated over the years.
Another memorable part of the day included conversations I got to have with Nancy after and in between takes. Learning additional details and facts about Caren’s life was fascinating. When Nancy told me about Caren’s lobotomy I couldn’t stop thinking about it and thinking about SYNGAP1 kids in the past and how they were treated. I still can’t stop thinking about this. I also couldn’t help but deeply sympathize with Caren and Nancy’s parents and wishing I could have met them. I couldn’t help but think about how they must have felt going through this process alone, without the help of the internet, simply trying to make the best possible choices with the information they had and without the support of the laws that protect and support disabled people today.
C: Anything else you want to share about the experience?
J: It was lovely. Our children although alike in many ways, are all on their own paths. But the more patients we know, the better we will understand this disease in its entirety. Perhaps more importantly, it will drive us toward finding ways of mitigating the difficult, painful, debilitating aspects of this disease. Furthermore, it will allow us to better understand and support our children and the adults they will become. So many of the SYNGAP1 parents who know about Caren are eager to hear her story and learn about her life. It is definitely a story worth telling and all of us are eager to see Caren’s story come to life in the very first screening on February 26th. Come join us!
A special thanks to our Executive Producer Illumina for their support in this project!