One week ago today I had the bright idea of taking both the boys to the doctor because they both needed shots and I thought I would save myself a trip. They started with Max, I told them about his issues with peanuts and they gave me a epi pen. Max dropped a chair on his toe and was a wreck for the next 30 mins. meanwhile the doctor is looking at Sam with great concern. I told her about how he had been to the eye doctor and how he has Optic Nerve Coloboma, a hole between the eye and optic nerve that may dissrupt how much info the brain receives,. She continued to look over Sam all the while Max is in a heap on the floor cause his toe hurts. Long story short she refers us to a geneticist and neurologist for Sam and an allergist for Max. You see Optic Nerve Coloboma is associated with a rare genetic disease called CHARGE syndrome and the doctor thought Sammy might have it. So I am trying to digest this info and the nurse comes in to show me how to use an epi pen and to give the boys their shots. Fun for all involved let me tell you.
Phone rings that afternoon and its neurology wanting us to come in in the morning. So we pack a bag in case its a long visit to the hospital and arrive at 9:30am at Mott hospital. After a full day of echo cardiograms, kidney ultra sounds and blood work not to mention our initial neuro visit I and Sam were spent. But the good news is Sam's kidney's and heart are normal. Both organ systems can be affected by this syndrome.
Now we wait for our MRI at the end of the month and further appts in early 2012 with genetics and optomology. Their is so much we don't know at this time. We don't know how well he can see, if he will have any developmental delay or anything else. I do know that after the initial shock wore off I realized that I love my sweet little Sammy and all this other "stuff" wasn't going to affect that. He has the nicest smile.
Even though so much of what went on this week has been scary I feel blessed, blessed that this should not effect his life expectancy and blessed that we got to go home from the hospital on Thursday because many of the kids we saw that day have to stay because they are so sick.
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