Update on appointments

We went on Friday to see a Rheumatologist at the children's hospital in Rochester. It was another frustrating appointment for us. Lots of questions and not to many answers. More tests for Jack also. After listening a little about Jack and reading what she had from his specialist here she did an exam. She said Jack has Hyper mobility syndrome-Ehlers / Danlos 4. We pretty much new he had hyper mobility issues. She just diagnosed it with a name. She said in her opinion a long with the mitochondrial disease causing leg pain, that people with this syndrome can have a lot of leg pain and issues such as we described with Jack. She said they would prescribe medication to help with the pain and all doctors should be aware of this diagnosis when evaluating him. She called his specialist in Cleveland while we were there. The medication he put him on for the muscle and or nerve pain is not what she would normally prescribe but she thinks it will work fine. She also said it is a better choice for Jack now that he is having all these stomach problems. She said once and if they get resolved the stomach issues and the current medication doesn't help then we can try something else for the pain. There are some things that should be monitored with this syndrome. They are also the same things he needs monitored for the mitochondrial disease. They just need to know he has this syndrome also so they can look deeper. She wants him to go back to the eye doctor and have the lens of the eye checked and the cartilage. When he does his follow up with the peds cardiologist she wants his heart valves checked.
Aside from all that she is a rheumatologist who also sees kids with immune issues. She was a little surprised since Jack is always sick that immune system tests have not been done. I told her everyone blows it off to the allergies and asthma. Even more now that he has large adenoids and tonsils. She sees that point, but since birth one of my main complaints has been he is always sick and catches everything. Fevers at times that are unexplained also. Anyway she has ordered immune system function tests. She proceeded to say that we need to get these tests done soon since he is scheduled for the adenoids to come out in November. She said if the tests show he has an immune system disorder that taking the adenoids or tonsils out might not be a good idea. I told her they want them out due to the mitochondria disease and not wanting to put any stress on his heart or other muscles due to the snoring. She said in that case it still might be better to take them out. Either way she said get the test done first and if they find something they will all have to have a meeting of the minds and decide what is the greater risks. Other then that she said he has no rhematology diseases. She really didn't have much to say regarding the periods of not being able to walk at all. They all pretty much say it is muscle or nerve related. Weather it is his muscles are so weak he cant walk because they give out or he is in pain and cant walk...they don't really know for sure.

Today was suppose to be the MRI and AGAIN he cant have it done. He is very sick and has a terrible cough and fever. The fever started Friday night late or should I say Saturday morning. He started last Wednesday with a snotty nose and cough. The cough got horrible on Saturday. I am taking him today to the doctor to see what is going on and if he is contagious. We had to reschedule the MRI for November.

Needless to say we are very frustrated. He is still having the stomach issues and I am waiting to hear back from his specialist here. He called on Friday when we were on are way to Rochester. I have to go over all of this with him and see what he thought of the biopsy. Hopefully I will talk to him by tomorrow.

Frustration is a normal feeling I feel lately. Each doctor looks at everything from his speciality point of view and they have there own opinion on why this or that is going on. Bottom line most of all of this is due to the mitochondrial disease. There is no cure or prognosis and they are trying to help him with pain through medication. Medications are the only thing they can try to help with the mitochondrial disease and all the stuff that goes along with it. The GI issues are not totally fitting so hopefully they will get to the bottom of it and be able to do something. If not then it will probably be due to the disease and we will see what things we can try. It is so hard to have him sick or not feeling well all the time. It is hard as his parents to not be able to fix the problem. Coming to the reality that there is not much we can do at this point is hard. With everything it is a watch game. As things arise deal with them. It is frustrating too because due to his age even the things that arise they want to monitor and not always due anything or try something. It is a wait and See game and I think they don't know what to do sometimes. I have to just realize there is no cure or prognosis and pray the little things that they can do will start to help him have as much of a normal life as possible. I just hope he can have a life with less sickness and pain. Sometimes I say to myself he is only three...why....what if...what will be of his future...he cant do what other children can....I feel bad for him......then I look at him and see how well he deals with it all. He is so happy and doesn't let feeling cruddy keep him down. I have to believe in faith that God is in control and has a purpose for all of this.

Pray Jack gets better and is free from bad illnesses in November. He has the MRI and the surgery scheduled at this time. Pray for wisdom for his specialists regarding everything including the surgery. Pray we get somewhere with the stomach issues and that Jacks pain becomes less.