Tell us about yourself and the patient in your life:
Avery was born in Mount Shasta, CA; she is 8 yrs old. She is a fun-loving, free spirit. She has a rare genetic mutation on her SMC1A gene; it causes her to have uncontrolled seizure clusters. She is nonverbal and developmental delayed. Avery started having seizures clusters at the age of two; they are medicine resistant. Avery is one of the strongest little girls I know.
There is very little known about this mutation at this time. Research is needed to help these girls get a better treatment that could improve their lives immensely and give us hope to control the seizures that have been resistant to medications and help with their behavior and overall development.
Avery has been seizure-free for a few months now, which we are blessed and grateful for. Her condition is still ongoing, with so many unknowns. We have had good and bad days, but we know Avery will do what she wants to and is physically able to. She has been playing with board books and engaging with us a little more than before, so for that, we are grateful.
We’re still having issues with her bowel routine and trying to control her pain, but we hope to find some answers with a new specialist at UCSF (San Francisco Benioff Children Hospital).
Avery is beautiful 🙂 and a sassy child who has developed a way to throw tantrums and get her way while in public. Can you imagine a two-year-old tantrum in an eight-year-old body? She is getting bigger and heavier has become a bit more challenging, so that will be one of our concerns as time goes on. With time we’re hopeful that she understands and helps. Prayers and positive thoughts are always needed.
What is your hope for the future for your loved one:
For Avery’s future, we would be grateful for a treatment plan to accommodate her needs. As she grows older, I ask for guidance in expectations, plan of care, resources.
We hope that we can offer and build a home that’s more adequate for her needs this year, single level with a walk-in shower. This would be a true blessing for our family.She loves and enjoys the out doors , going on nature walks and being her fun loving self.
https://smc1a-epilepsy.org/wp-content/uploads/gravity_forms/1-ad3e7d48258e3fb8a499cd046e873b66/2022/01/F79DF5BF-1FEF-49D0-83C8-84D3B42DD105_1_201_a1.heic