Our family first found out about our daughter Adeline’s SCN2A diagnosis in an online message. The message had been sitting in her MyChart inbox for ten days, unbeknownst to us. After we read the clipped 150-word note, We could not reach the geneticist who sent it to me for over a week.
We called our physician friends and checked with colleagues in the medical field looking for answers, but information was scarce. Even when we did connect with local providers, they could only provide a vague description of what we could expect for our daughter. Our local physicians had not seen more than a few cases of this disorder. We felt adrift and without connection to anyone who had personally experienced what it was like to have a child with SCN2A, and what it might mean for their future.
We found the FamilieSCN2A Foundation through our search for answers, and it was through the foundation’s publicly available resources and videos that we began really learning about SCN2A, the biological mechanisms at play and the various impacts on our daughter. We attended our first FamilieSCN2A conference in the months after receiving our daughter’s diagnosis, and were able to participate in the Research Roundtable, a pre-conference daylong meeting of scientists immersed in the SNC2A space who share updates on their work and brainstorm about how to move the needle on our understanding of SCN2A a little further each year.
The roundtable included a mix of bench scientists, practicing doctors and representatives of pharmaceutical companies exploring SCN2A treatments. Attending this event allowed us to get a sense of where the research stands when it comes to understanding and treating SCN2A. We had the opportunity to meet firsthand with researchers and to hear them explain what they are learning through their research. We learned which labs were conducting research pertinent to our daughter’s variant and met the principal investigators expanding the boundaries of what is understood about her condition. We had a chance to share our story and perspective as parents. We met Dr. Yang Yang, a researcher with the Purdue University College of Pharmacy, whose research into loss-of-function variants would inform our own decision-making about a medication trial later that year.
It has been through Foundation events that we learned about things like Cortical Visual Impairment, ABLE accounts and countless other items that would not be on our radar otherwise; and through Foundation forums that we have felt seen while discussing interrupted sleep, IEPs and GI issues with other parents.
As a scientific communicator and former journalist (Kellie) and social worker (Jonathan), information has always been a lifeline for us in times of anxiety. If we can’t control something, at least we can learn about it and understand it enough so as to know its shape intimately.
So you might imagine that when Stephan Sanders, a pediatric neurogeneticist at Oxford University, sat down with us during the FamilieSCN2A conference in Anaheim, CA, this summer to explain how the electrical signals in our daughter’s brain are impacted by her complete loss-of-function variant and expand on various gene replacement therapies in the research pipeline, the information was a salve. The hand-drawn illustration of neural backpropagation, stained with the coffee we were drinking during our conversation, is now a permanent fixture in Adeline’s home medical file.
Dr. Sanders uses advanced computing to decode the genome of individuals with SCN2A and other neurodevelopmental disorders and collaborates with some of the world’s preeminent experts in gene editing. He and a host of other researchers are working to learn as much as they can about as many SCN2A variants as possible, so that when scientists can safely administer and deliver gene editing tools like CRISPR (a milestone many researchers we spoke to at the conference believe is only a few years away), SCN2A is among the first genetic disorders in line to benefit from what would be a unprecedented scientific advancement.
Most of the scientists at the research roundtable have known each other for years, their connections nurtured by regular meetings of the FamiliesSCN2A Foundation and frequent collaborations (like this new SCN2A book which will be freely accessible online once published). Their collegiality is palpable, as is their care for our kids. Several of them mentioned that attending the conference and conversing with families and children with SCN2A grounds their work, making real a disease that for them usually lives in mouse models, organoids or very long sequences of letters and numbers on a computer.
Given that many lead researchers bring members of their labs with them, including early career scientists (graduate students and postdoctoral fellows) who will hopefully continue the pipeline of SCN2A research into the future, we like to think that seeing our children, both their struggles and their vibrancy, helps motivate them and underscore the importance of their work.
For our part, participating in the research roundtable as a family member with a limited understanding of the science at play in our daughter’s disease has made the research feel real to us. We have been in so many scenarios where a provider was flummoxed by our daughter, whose symptoms seemed like a puzzle with no key, or where her progress was slower than hoped. Hearing the updates from the scientists, listening to their discussions about overcoming gaps in academic research and barriers to drug development, and conversing with them about their findings fills me with relief and hope. Relief that there is a network of ambitious scientists from some of the top institutions in the world pushing for a fuller understanding of our children, and hope that such advancements can position our children to benefit from treatments as early as possible.
Frequently Asked Questions
Drugs typically have to clear multiple clinical trial hurdles in order to support approval. The typical trial phases are 1, 2, and 3 with lower number being earlier trials and larger numbers being more advanced trials.
Phase 1 trials are typically in healthy volunteers and are evaluating initial safety, and dosing in humans. These trials help ensure that the drug is safe enough to be evaluated in patients and also are used to identify an appropriate dosing range for subsequent trials.
Phase 2 trials are typically used to provide proof of concept (that the drug has an efficacy signal, is providing a benefit to patients) and also tests safety in the patient population. These trials often are used to help design and power registrational phase 3 trials.
Phase 3 trials are often the trials used to support the approval of the agent and may be the final clinical hurdle a drug needs to pass in order to be approved by the FDA.
This is a designation granted by the FDA when a drug is being developed to treat a pediatric condition that is serious and life-threatening and occurs in under 200k people in the US.
This is a program used by the US government to incentivize drug development for pediatric rare diseases. If a drug is approved that has been granted the rare pediatric disease designation, then the developing company receives a voucher that grants priority review of a future drug (which can accelerate the developmental time of a drug by ~4 months; for example: if drug#1 is approved and had been granted the rare pediatric disease designation then said company would receive a priority review voucher that they could use on drug#2 ).
This is a designation granted by the FDA when a drug is being developed to treat a rare disease (occurs in under 200k people in the US).
This is a program used by the US government to incentivize drug development for rare diseases. Drugs awarded this designation received a number of incentives by the FDA including: 1. Market exclusivity for 7 years post approval, 2. A waiver of application of user-fees, and 3. A 50% tax credit for clinical testing expenses