A message to the newly diagnosed SynGAP1 parent
Ashley Evans’s son, Tony, was diagnosed with SynGAP1 in 2018, and she is the co-founder and Chair of the Board of Directors of SRF.
I will say to you what my kindest friends said to me when I lost my parents, and again when my son Tony was diagnosed with epilepsy, and then SynGAP1:
I am sorry. And, welcome to the club.
This is not a club that you would have chosen to join — in fact, you probably would have chosen to have a SynGAP1 diagnosis yourself rather than see your precious child suffer — but it is a group of hundreds of parents who uniquely understand the particular form of suffering you experience in watching your sweet child struggle to learn, and sometimes rage, try to make a friend, to not sleep on exactly the night when you needed to sleep most, and sometimes laugh in the sweetest tones you have ever heard…
As one such parent, I am including here the most succinct amalgam of advice I can offer, today, a year into the diagnosis and five years into my son’s life. My “SynGAP1 Top 10” advice list of things I wish I had known earlier is ordered from the most practical & tactical to the more strategic & theoretical. I hope it is helpful to you.
1 — Get an EEG, early and often. SynGAP-1 seizures can be subtle, but most patients suffer from epilepsy beginning around the age of 3, or earlier. We have seen multiple patients (including our son) have a normal-ish EEG, and then start to show odd eyelid flutters (often induced by oral stimulation), that, upon later EEG analysis, revealed multiple seizures per hour.
2 — Try a variety of epilepsy treatments.
Some patients have had success with Onfi (Clobazam), others with Lamictal, and others with other drugs. For Tony, we tried both Onfi and Lamictal, but these did not eliminate the seizures and also resulted in very negative side effects. For us, it has been a combination of the ketogenic diet and CBD oil that have controlled the seizures (so far), and also somewhat managed his behaviors, but this has taken 24 months, and we expect it to change again as he grows.
3 — Get a sleep study.
Because our children are low tone, they can easily develop sleep apnea, and a tonsillectomy and/or adenoidectomy (a relatively straightforward surgery) can reduce sleep apnea symptoms. This surgery will not be a cure-all for sleep issues, but if your child’s tonsil’s are enlarged, removing them may help them sometimes sleep better on the margin. Read more about our experience here.
4 — Get help anywhere you can find it.
If you are in the US, apply to your local government agency (in California we call them Regional Centers) definitely before the age of 18, and use the services they offer. Seek an autism diagnosis, as this is a key diagnosis required to receive behavioral therapy. Get an IEP (individualized education plan) or the international equivalent, and advocate for the school to find ways to educate your child and support you with challenging behaviors (potty training is fair game!). If you find your state does not offer appropriate help for your child, you would not be the first to consider a relocation.
5 — Seek out therapies for your child.
While therapy may be hard to access (see above), and while some therapists are not going to be overwhelmed by the array of challenges that synGAP-1 is (our first physical therapist induced several seizures), it is worthwhile to advocate for therapy and find supportive speech therapists (STs), occupational therapists (OTs), physical therapists (PTs), horse therapists, behavioral therapists (ABAs or BCBAs), etc. All the evidence I have seen would suggest that synGAP-1 children, like all children, want to learn and grow, and they require special attention to do so effectively. They tend to have pretty incredible memories (though these memories can be hard to access / reveal) and enjoy succeeding. My son Tony refers to his therapists as his “friends.”
6 — Remember, you are not alone.
It may not feel like it on any number of sleepless nights, exhausting days, but the SynGAP1 community is there for you (given the diagnosis rate, larger than any of us know) and our cousins in the broader epilepsy, autism, and ID communities are out there as well. Joining online channels can be therapeutic (to a point) and 1:1 connections can be particularly powerful — the SRF patient advocacy group is working to facilitate these communications. Finding “sensory-friendly” activities, or autism or ID groups, can help you connect with people whose challenges are not too different from yours.
7 — It is OK to be angry.
Being a parent can be hard in and of itself, but being a parent of a child with this collection of special needs is particularly hard. Your child will likely have a very different life from what you would have expected, or hoped; your friends, family, and random passersby may not understand (or worse, may harshly judge) your child or you for things that are entirely out of your control. This is hard, and it is going to be harder. Don’t waste time or energy resisting the anger; harness it instead. Do something.
8 — Have hope.
You have a diagnosis. In fact, you have a diagnosis of a condition that is a haplo-insufficiency on a single base pair of the massive human genome — i.e., the genetic disease type that most geneticists would tell you is the most targetable of all. Though there is no treatment now, the possibility that there may be within your child’s lifetime is a very real one. It is out of this hope that we have built SRF, and it is my wish that you will share in this hope with us.
9 — You are a SynGAP1 expert.
It’s an odd feeling explaining a rare disease to an MD, a PhD or an MD/PhD, but you need to get used to it. Go in with the latest paper (here’s the SRF summary) and tell them they need to read up if they will have the privilege of caring for your rare child. You have spent many thousands more hours with your child than any clinician and understand this disease with more detail and nuance than any of them ever will. So, share insights and data with them, and every other researcher. Please participate in the Simons VIP registry so that we can build a natural history study, which will benefit research, and help drive towards a cure.
10 — You know what is best for your child.
I hope that you will have lots of advisors — teachers, therapists, doctors, nurses, family members, other special needs parents — who are well-meaning and wise in their area of expertise. But you are the one who has watched your wide-eyed infant grow into the person s/he is today. So, be empowered to take the advice that you believe serves your child, and to disregard the rest.
I send you only good wishes for your journey, with the hopes that you will be wiser than me, and your path will be more straightforward, but the knowledge that this may not be the case. I hope that we will cross paths on this journey, and that we can help one another help our SynGAP1 children live their best lives.
In peace and in hope,
Ashley
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