Updated: Jan 19
About Tbc1d24 Mutation
Our rare epilepsy is caused by a mutation in the Tbc1d24 gene. For a person to be affected with this disorder, two mutated copies are needed. One from each parent. It is inherited in Auto Recessive fashion, meaning each pregnancy will have a 1 in 4 chance of being affected. While we do not know exactly what the Tbc1d24 gene does, we do know that it is responsible for various neuronal functions throughout many organs in the body. It is a fairly new gene, only having been discovered in 2011. There are approximately 120 people in the world affected with this disorder. There are likely many more, but are undiagnosed.
Tbc1d24 Clinical Features
Tbc1d24 gene mutation comprises a wide spectrum of disorders. Some children are mildly affected, have controllable seizures, and have mildly delayed intellect. Others are severely affected, completely disabled, and have epilepsy that is drug resistant. Some features of this disorder can include tremors, various seizure types, low muscle tone, a distinct seizure scream, unsteady gait, and autistic-like features. The most serious comorbidities are status epilepticus and hypotonia. Hyptonia, if severe can lead to pneumonias and respiratory insufficiency.
Get to Know Tbc1d24 Foundation
We are an international foundation, located in Pennsylvania, U.S.A. Our board members are located across the globe- from the U.S, to Canada, and Australia. We are a foundation that is dedicated to the support of families affected by Tbc1d24 disorder, and our aim is to fund research toward therapies and a cure for our disorder.
Our foundation was started by two Mother's.
JoeyLynn- The mother of Joey, who had a very severe clinical presentation and early death at 7 months old. Joey was completely healthy appearing and adorable. He had his first seizure like movements at a few days old, but they were not distinct enough to describe, or capture. At 8 weeks old, he had his first clear seizure. It turned into status, and we were in shock. Overall, he had very low tone, and severe, recurrent, status epilepticus. At first he was able to eat by mouth and his seizures responded to rescue medication at home. Over time, his seizures stopped responding to all medications, and he had a feeding tube placed. He was a very loved, and very happy little boy when he wasn't seizing. It was very difficult for us, as we were uncomfortable with how much medication we had to give to stop the seizures, and we were unhappy with his poor quality of life. We always had a hospital bag packed, and our parents on standby for our other two children. It was a hard, chaotic, and love filled road. We miss him terribly, and we are relieved that he no longer suffers.
Bridget, the mother of Lilly. Lilly is a 3 year old, feisty little beauty. Lilly also suffered her first seizure in her first weeks of life, but is on the more mild end of the spectrum. Although she needs frequent medication adjustments, she overall responds well to medications, and is able to live a close to typical life. Lilly is an only child, and has recently started socializing and making friends at her new preschool. The mutation has caused deafness in Lilly, for which she wears a hearing aid and is able to sign. Lilly is able to crawl and stand, and is currently learning to walk. She is the light of her parent's life. They will often tell you that although the bad days are hard, the good days make it all worth it...and then some.
I am especially proud of ...
We are so proud of our determination to actually form a foundation. We recently had our first board meeting, and last week we obtained non profit status with tax exemption! We are definitely on the right path.
Excited to REN because...
We believe in strength in numbers. Overall, we would like to contribute positively to the epilepsy world as a whole. Epilepsy is an overlooked and unfair diagnosis, that desperately needs awareness and research. We hope to make that more likely to occur by using multiple platforms to spread our message. Although we are passionate about funding research for our gene, we also have that same passion for all Early Infantile Epileptic Encephalopathies. So many of these genetic epilepsies are drug resistant, and we find that to be completely unacceptable. .
My journey and motivation...
Watching Epilepsy steal your babies life away, is something that changed me as a person. I feel it is my responsibility to contribute in any way that I can, in hopes that I can prevent this pain for other children and parents.
By JoeyLynn Nolan, Cofounder, Tbc1d24 Foundation