Seizures, Developmental Impairment –  Treatments and Therapies

AEDs

(Anti-epileptic Drugs)

There is no known therapy or drug that has proven to work for our girls affected by epilepsy.  AEDs may or may not provide benefit but there is no known single drug or combination of drugs that provides a complete 100% life-long seizure control. Despite available AEDs, our kids continue to have seizures.

The current treatment requires patients to “trial” AEDs and combinations till seizure improvement is achieved. This is a lifelong treatment with some or no benefits.

Therapies to Improve Quality of Life

Developmental impairment is treated with conventional therapies such as speech, physical, occupational, feeding, ABA and/or other. These therapies do not cure your child or help your child to catch up with the mainstream. These are provided as “support” with the goal to help a child progress and improve overall quality of life. 

Seizures and developmental impairment are permanent lifelong conditions that last for life time.  Frequent uncontrolled seizures increase the risk of further developmental impairment, related medical complications, or unexpected death but SMC1A DEE itself does not result in death. Our kids are expected to live a full life span with this disease.

The medical people are providing medical support only, they are unable nor responsible providing a cure or effective treatments. Cure and effective treatments do not exist.

Some AEDs or combinations may help reducing the severity of seizures but AEDs do not cure our kids from seizures.  Available AEDs have not shown to provide a long term seizure control in our kids. 

Possible Future Treatments – Why we fundraise

The goal for our foundation is to raise funds for research that focuses on finding effective treatments for our kids.

Our goal is to treat the underlying cause of this disease, not the symptoms. Read more about potential treatment avenues below.