We had an appointment with the metabolic team yesterday and the motility doctor today. Several doctors have been concerned that Hayden may have another major diagnosis unrelated to his chromosome disorder that he has. The doctor that we seen yesterday, was amazing he was very honest with us. We were told yesterday that Hayden is the only child in the WORLD dealing with this diagnosis at this point in time. The other 25 cases that we were told about dont have his exact duplication and deletion. His opinion is that all of Haydens medical complications are a direct result from from the genes that are duplicated and deleted. He said that its likely that there are genes that are affecting his connective tissue and causing issues with things that you would see in patients with mitochondrial disease. He said Hayden didnt fit perfectly in any category and his gastrointestinal issues are more severe than what they would typically see with mito kids. He said they are still waiting for the whole exome to come back, but told us that we still may not get all of the answers we are looking for! Well have to continue supportive care and hope that one day there will be a break through. On a good note he was amazed when he seen Hayden and how well he was doing from a developmental stand point :) He said he was really shocked that Hayden could speak at all, with the size of his duplication. It made me smile, Hayden is smart as a whip! He is delayed, but hes making slow steady progress which is huge. Now onto the motility appointment! Over all things are not improving :( Theres a possibility that Hayden may have thickening of the small bowel along with swelling. Some of Haydens previous labs suggest that he may have swelling, but it also could be related to his liver. When we last seen the liver specialist, he had a positive smooth antibody which suggests he could have an autoimmune disease. So his doctor decided to repeat all of those labs along with several others. We also discussed the possibility that formula may be traveling up stream instead of down which is nearly impossible with the surgery he had, but not impossible. He wants us to collect samples from his leg bag tomorrow so they can test it and see what that says. We then had him look at the lump that we noticed a few weeks ago and he said it could be a hernia, but also could be a loop of dilated bowel. The only way to confirm is to do a contrast study. Last, but not least the doctor felt that it was time to start him on a flagyl regimen where hell be on it at the beginning of every month for a week, to try and get the bacterial overgrowth under control. Weve tried it in the past with out much luck, but he wasnt on it for a long period of time. So the over all plan is to wait on results of the blood work and in the near future do repeat biopsies of the small and large bowel to see if there have been any changes in the last two years. I updated on the post below how Haydens papa was doing yesterday and what happened for those who may have missed it. As of today he has been much more comfortable! Hes still on the breathing tube, but the doctors have let him rest and I believe the plan is to try and take the tube out sometime tomorrow. Please pray that he is strong enough to breath on his own and that things will continue to improve! Thank you for all the continued support for our family
Posted on: Wed, 03 Dec 2014 01:14:22 +0000
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