Anonymous Story #8

By: Parent of a child with a rare genetic change

“Try to get as much knowledge as possible so you can make informed decisions.”

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

No siblings.

What does your family do for fun?

Go to movies, pool/beach, amusement parks.

Tell us about the biggest hardship your family faces.

Uncontrolled seizures, lack of sleep due to sleep apnea, the struggle to get funding for specialized durable medical equipment, the difficulty in getting doctors to listen about medication side effects and for doctors to care about a person with disabilities’ quality of life.

What about your child puts a smile on your face?

Her gentle and sweet character.

What motivates you to participate in research?

Hope for improvement in seizure control, motor control, and overall health.

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)?

By sharing our experiences.

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

There seems to be a subset of children that experience severe regression as they get older, however the experts do not seem to have recognized this yet. If experts don’t acknowledge this, they can not begin to try to find the cause and perhaps be able to prevent this, time is of the essence in this matter.

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

Try to get as much knowledge as possible so you can make informed decisions.

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

There is research that has already been done related to sleep and loss of atonia in Munc18/STXBP1 – could there be a treatment for this loss of atonia? Quite a few of the children have sleep issues. I am also interested in the current research regarding autism and the gastrointestinal microbiome and fecal transplant therapy. Can our children’s microbiome be researched?