Home > About the Foundation > Our Stories > Rare Disease Day > Itay’s Story

Itay’s Story

Young boy with curly hair and glasses smiles. Close up photo of a young boy with glasses. Young boy with glasses proudly holds up a craft he made.

en español

Our beloved son Itay is 4 years old. He was diagnosed with CHARGE syndrome at birth and has a hearing loss in both ears, feeding issues, vocal fold paralysis, gross and fine motor deficits, and developmental disorder of speech and language.

CHARGE syndrome is an extremely complex genetic disorder with life-threatening birth defects. He is primarily non-verbal and has a tracheostomy as well as hearing devices. Itay has had numerous surgeries and medical treatments in his young life and receives speech, occupational, and physical therapy weekly.

Despite these challenges, Itay has exceeded all of our expectations! He is truly our miracle baby! With extensive therapies he is making great progress and beginning to make sounds, play with toys, and crawl. Itay is the heart of our family and we spend every single day focused on helping him reach his highest potential. We are often exhausted and frustrated by all the obstacles we face as a family, but Itay’s lights and progress keeps us going.

Went Itay was diagnose with Charge Syndrome, doctors explained that this rare disease affects multiple organs. They also explained that due to the lack of oxygen, it was a possibility that my son probably persists as a vegetable state, As a mother it was devastating for me to hear and process all the outcome and challenges that I was living with my first newborn. At that moment, I decide to fight back and with faith, hope and dedication. I try to help my son win all his battles. I have seen my son progress do to the help and support of all the multiple therapists that he takes every week.

I would like to say that having a son with CHARGE syndrome I have learned that you have to work hard for what you want because it won’t come to you without a fight. You have to be strong and courageous and know that you can do anything you put your mind to. If somebody puts you down or criticizes you, just keep on believing in yourself and turn it into something positive. -Mildry S.