I noticed when he was 3 weeks old his eyes were "shaking."He went to an eye doctor and was diagnosed with nystagmus.At the time I was worried that he would have some vision problems.If I only knew then nystagmus nothing compared to all of his medical conditions.
When Brady was 2 months he started having seizures.They put him in the hospital and ran every test imaginable on him.They could not find anything wrong with him.He was just small but they couldn't give me a reason for his nystagmus and trouble gaining weight.
2 weeks after being discharged back to the hospital we went.He was having trouble breathing and he was diagnosed with RSV.During this visit is when everything changed.He was diagnosed with motor sensory neuropathy(no reflexes) and optic nerve hypoplasia(small nerves in the eyes).During this visit is when everything changed and we started our journey of medical mystery.
Brady now has many diagnoses and some things are still not explained and known yet.It's just a wait and see game.His list includes:nystagmus,motor sensory neuropathy,optic nerve hypoplasia,scoliosis,microcephaly,Cornelia de Lange syndrome,and seizure disorder.
A year ago,if someone would of asked me what half that stuff was I would of had no idea.It's been a long 13 months but it's a journey that I'm ready for.He has taught me so many things.He's a lot stronger than I am.
"Here is an additional resource about the genetics of Cornelia de Lange Syndrome: http://www.accessdna.com/condition/Cornelia_de_Lange_Syndrome/104. I hope it helps. Thanks, AccessDNA"
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