Ali’s Story

By: Abid, Parent of Ali, a 10 year old with an SCN2A genetic change

“Hope is the biggest factor for my child as well as so many other lovely children.”

What is your child’s relationship like with his/her siblings?

Though they fight a lot..physical fights as well as words son scn2a loves his elder sis.

What does your family do for fun?

Movies, shopping ,dinners, travels.

Tell us about the biggest hardship your family faces.

Sons health. He was ok till Nov 17. All of a sudden seizure frequencies increased from 1 a year to every 2 months avg. It’s unpredictable when he will get it. Has affected a lot of daily routines of our lives.

What about your child puts a smile on your face?

Even his small accomplishments which he struggled to get done.

What motivates you to participate in research?

To seek help and help others with our experiences. Hope is the biggest factor for my child as well as so many other lovely children.

How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?

As of now I am not a candidate for research though our neurologist has confirmed his epilepsy is caused by scn2a.

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

Most families have very severe to moderately severe autistic children affected by scn2a heterozygous mutations. I haven’t come across a family which has homozygous mutation of same variant with similar condition.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

Get help from professionals. They can help you manage the condition

What is one question you wish researchers could answer about your child’s genetic change?

What kind of protein mutation is causing it and can genetics use tech to replace faulty protein and replace it with normal healthy functional one

Is there anything else you would like to share with other families?

Please come forward with whatever lil experiences you can share with everyone. It helps immensely. And if you know of any families who have mutations please request and convince them to join the group. We never know which one of will be helping find a cure but collectively researchers can narrow down to a lot of conclusions and better understand this rare disorder.