Iszack was born in May 2013. It was apparent from the beginning that Iszack was different from our other two children. Iszack was born with only light perception vision. The first few doctors we saw would only tell us they thought our baby was blind. We, as any parents would be, were in shock. After seeing a pediatric ophthalmologist, Iszack was diagnosed with a Congenital Jerk Nystagmus with hypopigmentation of each fundus (diagnosed initially as a form of ocular albinism). As Iszack grew and matured other things presented themselves. He wasn’t walking and when he finally did his legs turned in severely (later diagnosed as a severe tibial torsion). He would often drag one of his legs. He wasn’t speaking, he was having seizures and major bowel issues/blockages. During a camping trip with friends, a mutual friend of ours asked to take a video of Iszack. She was concerned about his noticeable lack of development and that he was losing control of his leg. I agreed to the video and she sent a copy to her brother-in-law who is a pediatric neurologist at McMaster Children's Hospital. That video would change Iszack’s life. Within weeks we were in to see Dr. David Callen at McMaster. After closely watching Iszack he felt there was more going on and he ordered genetic testing.
The genetic testing revealed a genetic condition called 16p11.2 deletion. Within this condition, all of the symptoms and issues Iszack was experiencing were listed. We now had a reason and could now better help Iszack. We celebrated!
Iszack is now 6 years old and such a vibrant happy boy. He just underwent a psychological evaluation in order to help with school placement. He is now attending grade 1 in a life skills program. We are thrilled and excited about Iszack’s future. Iszack is doing amazingly well and progressing at his own pace. He is pure sunshine. We call him our vitamin “I”.
- Iszack's parents