When my son Dustin was diagnosed, there was only 104 known cases world wide. He was 13 years old. I have found myself wishing they had known about this sooner. When Dustin was born, he had respiratory problems, and jaundice but was otherwise a normal 8 lb. 12 Oz. bundle of fighting baby. The doctor commented about his toes in the NICU, but as it was 1993 and Phelan McDermid Syndrome was yet to be discovered, he saw no need for alarm. I watched my baby grow.. He reached several milestones early.... Rolling over, holding his own bottle... Things like that. The only thing was, he absolutely hated being held and would not hold his head up when you held him. I would bruise on my arms from the weight of him forcing his head back. He continued to grow and would do things such as reprogram the VCR with the remote. And he knew if we took out the batteries. He would look at it and toss it in the floor. ☺
The first 3 years went by quickly... He started showing signs of physical delay around 1. The soft spot on his head fuzed early, but we were told not to be concerned. Around 2 years of age, we started PT. He wasn't walking and would not put weight on his legs. He rolled and commando crawled everywhere. He said a few words and smiled a lot. When age 3 came, he changed almost over night. He stopped talking, stopped smiling and became aggressive. He was diagnosed as severely mentally impaired at that time.
Around age 5, he was diagnosed as autistic. We went to several specialists because he also started swallowing air... A condition later called aerophesia. This caused him distress and he would get pneumonia several times a year. Dustin still was not walking and he showed no signs of communication. After 2 muscle biopsies and a nerve conductor test, cerebral palsy was ruled out. The doctors were stumped. A major part of his cerebellum was just not there. It was mostly fluid. I kept working with him and pressed on, desperately trying to find answers. My baby had turned into a shell of what he once was.
Around 8, he started putting weight on his legs and would walk with assistance. One day, at age 10, he decided to get up and walk across the room on his own. I was elated!! At around age 13, his health started improving. The placement of a Gtube helped so much. We had a portal to release the air and that stopped the pneumonia and bowel obstructions. It was also at age 13, that a gastrointerologist asked to perform a test to see if Dustin had a chromosomal deletion. He had read about a condition called deletion 22 1.3. Within a week, we finally had our answer.
After 13 years, we finally had something to tell people... A reason for Dustin's delays. His spine started showing signs of scoliosis when he was around 12 or 13. His PT regimen was adjusted. He started showing signs of communicating through object association. Dustin would not chew any food so everything had to be pureed. He still doesn't chew at age 23. He wears diapers. His scoliosis has become severe... But Dustin "the fighter" is still walking.
I have been told so many times that he wouldn't survive to certain ages.... And he surpassed them all. Now, with the worsening of his scoliosis, we have once again been given a time limit on his life. It is getting hard for him to breathe at times and he appears to be in pain. We still get up and make him get around. I refuse to let him just lay in bed and quit. In spite of everything... I wouldn't change a moment with Dustin. He has enriched my life... Taught me patience, understanding and acceptance. I love him with everything that I have. He has a brother with no abnormalities and a sister with mild Asperger Syndrome.
I am telling you all this, because this is a story of hope... Perseverance and love. Never give up the fight for answers. You are your child's biggest advocate. Ask questions.... And by all means, tell your child's story. You could be the link to helping another parent find their answers. I know how hard the years of not knowing was.
