Tuesday, April 03, 2007


Have you ever seen Exteme Makeover Home edition? In our area it comes on every Sunday evening at 8 am. My daughter and I try to watch it every week, even though we end up crying. In this weeks episode the family has a young girl who has a hole in her heart. She's had 3 surgeries. EM Home edition built this family a beautiful home with a special venilation system for the young girl so she can get better. It bought tears to my eyes.

I started thinking about Ian and wishing that someone could make him all better. The problem is we don't even know what's wrong. We have been to so many doctors, some have brought us closer to an answer, some just don't know what to tell us.

For many years, I have been pushing for Ian to see a Neurologist. For just as many years, the doctors have said we didn't need to see one. Finally, last year one of Ian's doctors from Childrens referred us to a Neurologist. After the initial visit, the Neurologist said there were some discrepancies that needed to be checked out.

An MRI was scheduled and it came back normal. The next step was to schedule genetic testing. This was done via blood work. Two of Ian's tests came back abnormal. One of the tests measured his CK levels which were slightly elevated. This level can indicate seizures and neurological delays. The other test measured his Carnitin levels which have to do with energy production and amino acids. This level was low. The doctor put Ian on Carnitor 3 times a day and retested him in a month. The results were the same.

The doctor was not too concerned about the CK levels. The normal levels are 0-200. Ian's levels were at 258 and 284 respectively. For MS, Downs, Muscular Dystrophy, etc, the CK levels would be in the thousands. The Carnitin levels are a concern. Even with being on a supplement, the second test still showed the Carnitin levels as being low.

The doctor had been checking for a Mitochondrial disorder. It is very difficult to give an actual diagnosis of this disorder. He was hoping at the very least to rule it out. However, the tests have proven to be inconculsive. The big question is does he have a Mitochondrial disorder or something else. He does not have the answer.

The Neurologist has referred us to Doctor Gregory Enns at Stanford. He is a Genetistis and Metabolic disorder specialist. Ian's Neurologist believes that he is the best doctor to help Ian.

When the doctor mentioned Mitochondrial disorder, my heart froze. I only know of one family whose young child has a Mitochondrial disorder, see Emmas story. Her story is heartwrenching. She is currently doing well.

Usually I'm the first to hop onto the internet and look up information. I call my other various sources and gather info from them. This time, I didn't want to know. I wanted to keep my mind blank about it. It took me three days before I dared type the words Mitochondrial disorder into the my search engines.

I found the United Mitochondrial Disease Foundation. I found out that there are varying degrees of these diseases and some were quite mild. I only looked briefly, but it was enough to give me some hope.

A few weeks later I checked back. I started looking up information based on the few things I knew from Ian's reports. I'm heartened by what I've found. I haven't done too much research, because we really don't know what's going on. It's best to wait till we see the specialist.

In the meantime, we are just waiting for insurance. They have requested more info from the neurologist. I'm praying that everything will go through and we'll be able to see Dr. Enns soon.

1 comment:

Brony said...

I think sometimes worse then the illness(es) is the waiting and the not knowing.

Best of luck.