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dmontillamartin  
#1 Posted : Tuesday, October 25, 2016 8:18:27 AM(UTC)
dmontillamartin


Rank: Newbie

Groups: Registered, SCN8A Patient/Caregiver
Joined: 10/25/2016(UTC)
Posts: 1
Spain
Location: Madrid

Hi everyone. This is from my daughter case.

Sara, who is 4 years old, was recently diagnosed with a genetic defect in the SCN8A gene. The disease initially manifested itself at birth with convulsions, and a month from then; Sara experienced bradycardia which was accompanied with up to twenty apnea crises a day although she was never diagnosed with epileptic encephalopathy.

During her first two years, lack of diagnosis and consequent lack of treatment delayed Sara´s progress. And after undergoing treatment with Carbamazepine, the apnea and convulsions subsided contributing to great overall improvement.

However, Sara currently continues to experience tremors and ataxia in her upper limbs. Unfortunately, the doctors in Spain have not managed to keep the tremors under control. They have not explained to us the cause either.

This is why we will be most grateful if you could give us some answers to this respect.
acencina  
#2 Posted : Monday, October 31, 2016 12:53:23 PM(UTC)
acencina


Rank: Member

Groups: Registered, Administrators, SCN8A Patient/Caregiver
Joined: 2/2/2016(UTC)
Posts: 15
Woman
United States
Location: Tucson, AZ

Hello dmontillamartin,

Thank you for sharing Sara's case, I am sorry to hear of the troubles you've had in controlling Sara's seizures. Do you know what her specific mutation in the SCN8A gene is? If you have a genetic report, but do not know where to find this information you can also email this document to scn8a.info@gmail.com and I can look over it and let you know what the mutation is.

The limited data available on our scn8a kids suggests that different mutations in the gene may be able to predict the severity of outcomes. We've also seen that different drug combinations work in some mutations better than others. So understanding what her specific mutation would help us provide you with better information and will allow us to connect you with other families who have children with the same mutation.

I look forward to your response!

Alixx Encinas
Ph.D. Student
Hammer Labs

Alixx Encinas
Ph.D. Student
Hammer Labs
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The information provided in this forum is for informational purposes only. The purpose of these topics is to promote a broad understanding and knowledge of SCN8A in an effort to support parents and guardians in the care of patients with this rare genetic disorder. It is not intended to be a substitute for published data, clinical practice guidelines, professional medical expertise, diagnosis, or treatment. The information may be useful when corresponding published data are not available. Always seek the guidance of physicians with any questions you may have regarding treatment and before beginning a new health care regimen. Never disregard professional medical advice or change treatment course solely because of something you have read within this forum. The user assumes all responsibility and risk for the use of the information provided in this forum. Under no circumstances shall The SCN8A Community Website, the University of Arizona, its volunteers, sponsors, or any contributors to this forum be liable for any DIRECT, INDIRECT, INCIDENTAL, or CONSEQUENTIAL damages that result from the use of the forum.