We came home from Rochester a little while ago. The trip was fine. The appointment went OK. The genetic doctor there agreed with the specialist here and in Cleveland. She doesn't think he has ehnlos/danlos 4. I guess that is not a mild form. She thinks it is the mito disease mainy. She did say she could clinically say he has # 3 of that disease. That is the milder form . There is no reason even if he has that to make it a diagnosis. The mito disease covers all that diagnosis and more. She did do the genetic testing for the # 4 just to rule it out for 100%.
Jack himself did real well. He has been very shaky and high tremors lately. He is still snotty and having his daily issues. All and all this has been an Ok week. Jack has about a two week break from DR appointments. Hopefully nothing new will pop up. We just take things day by day. We deal with everything as it happens. I am happy the GI issues seem to be calming down a bit. The muscle pain and tetany episodes are there but seem to be less this week.
Tuesday, March 11, 2008
Sunday, March 9, 2008
Update
It has been a while since I have updated the blog. Computer issues among other things. It is never a dull moment around here.
Jack is doing OK. He has been having some very frequent tremors and fatigue is definitely up. His stomach seems to be getting a bit better. The upping of the medications seems to be helping at this point. The allergy testing came back. He has no allergies. They think (allergist, Ent, and pulmonary DR) that jack has sinus disease. This too due to the the mitochondrial disease. Low tone, and all the muscle issues causing this. They are trying some antibiotic treatment, and sinus flushing for now. A CT scan in the summer will be the next step. He has been exposed to so much radiation at this point that we are waiting. His asthma has gotten a bit better since the pneumonia has passed. He is still having the tetany, but it has gone down a bit. Definitely need to get back to the eye doctor. We are still having current issues there. All and all a OK week.
We are going Tuesday to Rochester to see a genetic specialist for some testing. This is regarding the added diagnosis. Some of the DR's are in agreement and some just say it is the mitochondrial disease. We will see from this testing. The Enlos/Danlos diagnosis can be something that needs to be watched closely so we want to be sure he has this.
Praise be to God. Jack has been sleeping a little better. Every day is full of obstacles and frustration but we just give the glory to the Lord.
Jack is doing OK. He has been having some very frequent tremors and fatigue is definitely up. His stomach seems to be getting a bit better. The upping of the medications seems to be helping at this point. The allergy testing came back. He has no allergies. They think (allergist, Ent, and pulmonary DR) that jack has sinus disease. This too due to the the mitochondrial disease. Low tone, and all the muscle issues causing this. They are trying some antibiotic treatment, and sinus flushing for now. A CT scan in the summer will be the next step. He has been exposed to so much radiation at this point that we are waiting. His asthma has gotten a bit better since the pneumonia has passed. He is still having the tetany, but it has gone down a bit. Definitely need to get back to the eye doctor. We are still having current issues there. All and all a OK week.
We are going Tuesday to Rochester to see a genetic specialist for some testing. This is regarding the added diagnosis. Some of the DR's are in agreement and some just say it is the mitochondrial disease. We will see from this testing. The Enlos/Danlos diagnosis can be something that needs to be watched closely so we want to be sure he has this.
Praise be to God. Jack has been sleeping a little better. Every day is full of obstacles and frustration but we just give the glory to the Lord.
Subscribe to:
Posts (Atom)
Posts
