2. STXBP1
3. Interviews

Joshua's interview

How did all start?

Developmental delay. Epilepsy diagnosed at 18 months

Do you already have a diagnosis? How long did it take you to get it?

34 years

For what medical specialties have you been treated? What has been the most useful specialty for your?

Developmental Neurology Gastroenterology Ent

What has been the most useful thing for you so far?

Occupational therapy when younger. Vns device

What have been your biggest difficulties?

Communication. Non verbal. Not toilet trained. Seizures xausing frequent FCC alls. Lack of safety awareness. Motor problems. Difficulty chewing. Severe reflux.

How has your social and family environment reacted? Have your social or family relationships changed?

Loving family. In group home setting. Frequent family visits.