What's wrong with Jacob?

     Once we brought Jacob home from the hospital we assumed everything would be smooth sailing. He had trouble latching on for the first 3 months, but I figured it was because he was so little. As he got a little bit bigger I noticed that he looked a little different than my other 2 kids, he was still measuring extremely small and not catching up and his head size wasn't even close to being on the charts. Again I disregarded my feeling that something wasn't quite right. I also noticed that he was getting alot of upper respiratory infections and colds and by the time he was 6 months and wasn't even close to rolling over yet I knew something was wrong. At his 4 month check up, the doctor suggested he have some genetic testing done to make sure everything was normal and start some Physical Therapy to help him with his development. "Surely he doesn't have a genetic abnormality," I thought. So I ignored that request and started to research on my own. At Jacob's 6 month appointment I decided we should go ahead and get the genetic testing done, so they drew his blood (for the hundredth time since he's been born) and we waited. Shortly after his appointment, he got an extremely bad respiratory infection called RSV that put him in the hospital for 10 days. Normally a child that gets RSV is in for 2-5 days. Jacob gets extremely sick and everything he gets is exaggerated. By this point I knew something was wrong and I waited by the phone for the genetic results. They came back normal. "Something is not right," I thought. I started researching more and started to push the doctor more about other testing we could do. She ordered a Swallow study, and MRI, a neurology apt, a gastrointestinal Specialist and a Genetic Specialist. The next few months were a whirlwind of testing and appointments. The Swallow study revealed that he was aspirating his bottles which could be contributing to his constant respiratory infections, so he was put on a special thickener. We waited for 3 months to see the neurologist and he ended up being our saving grace. He had ordered a very specialized test called a Micrarray analysis to test for extremely small genetic deletions. Only a few hospitals in the country have this particular test and Children's Mercy is one of them. As soon as he saw Jacob he knew that it was genetic. We waited for the test results to come back as patiently as possible and ironically on the day he was scheduled to meet with genetics, they had the answer. Jacob has a microdeletion of Chromosome 17. What does that mean? We don't know. What is his prognosis? We have no idea. What problems will he have? Don't know. Jacob is the only case they know of that has this particular genetic deletion, so our experience with him is all we have to go on. I will be posting stuff on here as we travel up "Jacob's Ladder"....

Jacob 5 months

11 months (almost)