FAMILY STORY

Tommy’s Rare Disease Story

By: Karen, parent of Tommy who has a SYNGAP1 genetic variant


“Learn everything you can about it and be open
and share to raise awareness.”


What is your family like?

Oh wow. Our family is a devoted and loving one for sure. Spending time together is the most important for us and in particular, time with his older brother is the highlight for Tommy. We love to be cheering on any local sports teams, swimming, painting together, and just being around each other. Tommy and his older brother share the most incredible bond and there is nothing that warms my heart more than seeing the two of them together. The love, the patience, the compassion…so blessed.

What do you do for fun?

Family vacations to Cape Cod, walks in the neighborhood or driving around in our golf cart, throwing rocks in the local ponds, being out in the community, and supporting our local school sports teams. Crafts such as painting, sticker art, and practicing writing. Visits with his older brother.

Tell us about the biggest hardship you face.

There is not just one challenge with a Syngap child-like Tommy. He is now almost 22 and the aggressive behaviors have become much more difficult to manage given his strength and size. Next, the seizures (LGS) and the inability to have good control are another big challenges. Every day Tommy has multiple seizures in one of the varying forms he has. And I think our 3rd is such a significant intellectual disability and communication difficulty because of it. There is Intense frustration that happens when we don’t understand and that leads to epic meltdowns. We get caught in an almost endless loop regularly. And in just a couple of months, he will age out of special education and the routine he has had for so long. Add in the pandemic, finding in-home supportive care and a day program to replace school is the next hurdle.

What motivates you to participate in research? How has participating in research been helpful for you?

Tommy was not diagnosed until he was 17.5 years old. Without research and progress, Syngap never would have been discovered. I have always participated with Tommy in any research I can because I know that without research we will never find a treatment or a cure.

How do you feel you are helping Simons Searchlight learn more about rare genetic variants?

I have been a member of Simons Searchlight since our diagnosis and I am all for helping! I grew up with an MD father who dedicates his life to research and I believe in its importance.

What is one question you wish researchers could answer about this genetic variant?

There are so many variations on mutations to the gene so will that mean each individual mutation will need a targeted treatment?

What have you learned about your or your child’s genetic condition from other families?

We are all a big family and without the community to engage with this can be a very lonely and isolating situation. Many of the families I have connected with share symptoms we deal with and there is a wonderful exchange of ideas, experiences, and support.

If you could give one piece of advice to someone recently diagnosed with this genetic variant, what would it be?

Learn everything you can about it and be open and share to raise awareness. Have a plan for your child’s future.

 

#SHAREYOURRARE

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