Neurogeneticist - Mito /Metabolic

We all drove down to Indy this morning at 3:30am. Lots of rain on the way down so I was very fortunate that we left early.

First we spoke to Dr Walsh's colleague.She asked all about Brocs history -birth,medical,physical etc.As usual she cannot believe how many things he has been through.

Once we were done talking to her Dr Walsh came in.He was very polite and had a great manner with all of us.Broc really like him which is huge in his world. He firstly explained what the mitochondria are and how they help our body. He thinks that the eye rolling that Broc has is a form of tics.We are doing the Video EEG in a week to rule out any seizure or epileptic activity. He said that nothing will need to be done about it unless it causes him harm or gets in the way of normal daily living.

He then said that the chromosome disorder that the boys and I have (16p11.2 Duplication Syndrome) is Brocs primary dx and that any motichondrial disorder would be secondary. They have found that anyone that has a chromosome syndrome would more than likely have an issue with their mitochondria. He said that they would draw some labs and see what they say. He said that a muscle biopsy is another way (actually the most accurate way) to determine a mito disorder but he said that most people with 16p or any other syndrome would come back with an abnormal muscle biopsy due to the chromosome issue they have. He said that with Broc having been through so many surgeries he didn't feel that it was necessary unless any of the lab work came back with red flags.

We also found out that many or all of Brocs health issues are related to the 16p syndrome.The only difference is that he has Shones Syndrome as well (his heart condition) and that makes it all the more harder for his body's defense systems to kick in when he gets ill.

The reason too that Broc is very unstable when he does get these viral illnesses is that with his low muscle tone his body is normally trying so hard to function and keep itself moving then add in an illness and now the body has to fight the illness as well as still keep his body functioning properly.Therefore making him unstable and very clumsy when he is ill.

Although there may not be a cure to what Broc has Mark and I have a really good understanding as to why his body acts the way it does.We know that his fever and viral illnesses is part of his 16p and that we just need to manage it the best way we can.Staying away from crowded places during cold and flu season and also not taking any risks with him either.We have some protocols set in place for when he does get sick and we will work very closely with his ped and immunologist when this happens.

The labs from the mito testing should take about 3 weeks to come back.We will share the news -
good or bad when we get the results.

Broc is still dealing with his low grade fever and high eos. levels.He will be having a weekly CBC done until these levels go back to normal.If they start to climb again then more extensive testing will be done.

All the biopsy testing came back negative from the G.I. scope he had last Monday which is great news so now we are trying a new med to help with his gastroparesis pain and motility.

We will be travelling down to MI next week for Brocs follow up appointment to see the vascular surgeon.We are very eager to see how his body is healing itself on the inside and how his body is accepting the new graft and adjusting to the new blood flow.

Broc and I will be checking in Peyton Mannings Children Hospital the first week of August for his Video EEG.