Two weeks ago, the genetic doctor ordered some broad DNA bloodwork to check for abnormalities. He was supposed to have his follow up appointment next week but hopefully we will not be here so his GI doctor went ahead and asked the genetic dr to come by.
We had not met him yet, he just ordered the bloodwork last time but didn't come by because he was out of the office so I was very happy to finally get to meet him and ask him questions. His nurses came by first and went through all of our family history and zachs medical records, my pregnancy with him and my other sons health. Then Dr C came in and did his physical exam and went over some of the bloodwork that he has had done and said we are still waiting on more bloodwork to come back. But what has come back has only told us that he has the correct number of chromosomes.
He told us that with Zach having so much going on and with it being progressive and our history of maternal issues being passed down, Zach has a high probability of having some sort of Mitochrondrial disorder. He wants him to have a muscle biopsy taken the next time he is under anesthesia for any reason. And he already has his DNA stored so they can do further testing without having to draw more blood. He wants to wait on the micro array to come back and whatever else he ordered first then try to narrow down from there. Unfortunately this could put a damper on him being approved for an intestinal transplant if he ends up going down that road.
On another note, We found out today that our insurance company does not have Cincinnati in their network for intestinal transplant centers so if we went there (if he ends up having to have one) we would have to pay for the entire thing out of pocket. The only hospitals they approve are Pittsbourgh in PA, Georgetown in Washington D.C and one in Fl. So that was a shock today, to say the least!
His GI doctor said for now lets at least get him to Cincinnati to be seen by the top GI's first and if they decide he does need a transplant then we will transfer to another hospital, one of the approved ones. But we are still just waiting on the green light to just to get seen by the GI doctors. And since it has taken all week, we can't go till next week if we are given the green light.
The dr from there called me yesterday to see what my expectations were, and let me know what they were going to do. He said they may or may not repeat tests and there is a good chance they won't find any answers since he has already had an extensive workup here and no answers have been found.
Today, Zach has been having more pain and is draining a lot of dried blood/coffee ground looking stuff from his G tube and we have had to start draining his J tube again due to the pain and leaking. He also threw up last night so that is unexplained. He has been very moody and irritable, it is heartbreaking. We tried to take him outside to the rooftop playground earlier and he took 2 wobbly steps and then crawled back up into Nana's arms and wouldn't get down saying he was hurting.
So we are stuck waiting again for answers....I have heard the Mito wait is long, it is not one that we want to be on but I know we are not alone, there are a lot of special kids on this road as well and we pray for them.