In April of 2004 Daniel’s genetic testing came back, I was told he had an interstitial deletion of chromosome 22 and was given a follow up appointment so they could explain more about it. At the appointment I was told that there were only 3 other documented cases like my son and that this was extremely rare. I felt like a freak, how could this happen to me? What about my wonderful little boy, what was his life going to be like? How was I ever going to be able to help him? I was terrified and remember holding him tightly and crying for hours. My life had been turned upside down and I was lost.

I quickly learned more about genetic disorders and found out that Daniel’s trances were actually fever induced seizures. I also learned that most of his symptoms, the ones the doctors couldn’t explain were “normal” for children with genetic disorders.

Some of Daniel’s symptoms include: Hypotonia (weak, floppy muscles), global developmental delay, speech difficulties (Daniel is still too young to assess this yet, but at age 2 he is not able to communicate) macrocephaly (big head), seizures, high arched palate, mild dilation of cerebral ventricles, dysplastic ears (Daniel’s are low set), mild dysmorphic features (Daniel’s forehead is bossed and he has little muscle tone in his face), a sacral dimple, recurrent ear infections, a high tolerance to pain, flaky toenails, tendency to overheat and a large head and hands.

Daniel suffered chronic ear infections and airway problems nearly consistently for his first 2 years. In October of 2004 he underwent surgery to insert tubes into his ears, and remove his tonsils (which were extremely enlarged and blocked nearly 90% of his airway) and part of his adenoids. Since the operation Daniel has not had any ear infections or respiratory trouble, and it is my hope that his good health continues. During the surgery he also underwent an ABR study to determine his hearing level, his hearing was 100% in his right ear and only slightly lower in his left ear due to some fluid build up. The doctor feels that the hearing loss is only temporary and as his ear drains the hearing will return to 100%.

Daniel’s diagnosis and issues are part of the “Unique” database (a charity organization based in the UK) as well as being part of the C22 Internet family.

Daniel is progressing well. He receives PT, OT and Speech Therapy weekly through our state’s Early Intervention program. He is teaching me much about being a mother privileged enough to be blessed with an angel. We have many disabilities to turn into abilities, but with love, patience and determination we will get there.