Results

We have been trying to digest the results of Corbin's muscle biopsy for nearly 10 days now. Its tough. We still don't have an official diagnosis, but we have a better lead than we have had in a year. That's right. We started this journey a year ago. It was Corbin's 6 month appointment where I expressed my concerns with his doctor. After not being satisfied with the answer she gave, we set on our journey to meet with the pediatrician. She has been our lifesaver. She was the voice for us when we had none. She got the ball rolling, and I can guarantee we wouldn't be as far with Corbin as we are without her. She got us connected with the specialists we needed and has continued to be an amazing support system.

Here is the email we sent out to our closest family last week. Hopefully I will be updating this blog again shortly as little man is 18 months now and Hal is almost done with Kindergarten! Seriously, where does time go!?

Keep praying. We have a long road ahead of us....(Disclaimer: I tried the best I could to summarize what little we have learned via a phone call. I apologize if I didn't get the scientific facts 100%)

We are beginning to feel like we take two steps forward just to take one step back. We received the results of Corbin’s muscle biopsy last night. They were much different than we had expected.

His genetic test showed that at least 1 of his dysferlin genes was abnormal, but we knew in order for this to be the answer both genes had to be defective. The answer to this question hinged on the muscle biopsy. Dysferlin is one of the proteins found in the muscle. Ironically, Corbin’s dysferlin proteins looked good in his biopsy. This means while he does have 1 gene mutated, it is not our answer. Corbin is a carrier of an abnormal DYSF gene NOT an affected person.

However, they did find a few things that gave us a new lead to track down. There is a protein called Dystroglycan. It acts as a shock absorber to the muscle. It is directly connected with dystrophin (dystrophin is the protein usually found to be abnormal in muscular dystrophy). There are two "subunits" of Dystroglycan one of which is alpha-dystroglycan. Alpha -dystroglycan is coated with sugar molecules that have to be attached for muscle to function correctly. Alpha- dystroglycan is found on many cells including both muscle cells and brain cells.

Corbin’s muscles were found not to have the sugar molecules attached like they should be which indicates a problem with the dystroglycan system. They also found degeneration and regeneration in his muscle which explains why he has a high CK level (his muscles are breaking down releasing the enzyme and then trying to rebuild).

Mutations in 18 genes are known to cause abnormal glycosylation of alpha-dystroglycan (I tried to describe this above). Together, these muscle disorders are classified as dystroglycanopathies. Corbin’s muscles indicate he may have one of the diseases within this group. Before you google it please understand dystroglycanopathies are a wide spectrum of diseases (just like autism is). We do not know where Corbin in on that spectrum. However, with most of these diseases musclar dystrophy is a big part of the disease.

The next step we need to do is identify the gene that is causing this disorder. Corbin has had 14 of the 18 genes known to cause dystroglycanopathies tested previously. It could be the gene causing the problem hasn’t been tested. Or it could be a gene abnormality was missed on the first panel. Or it could be caused by a gene not found yet. Finding the gene is extremely important because of the fact that this can affect many different organs. Corbin’s prognosis and severity also depends on which gene is causing the problem.

We have no confirmed diagnosis. Just as with everything through this whole process, we have a lead. We will continue to update everyone as soon as we can. We usually take a couple of days to process the information and discuss it between ourselves. Its all so confusing and its a lot to digest in a 30 minute phone conversation with Corbin's Dr.

We go back to Iowa City at the end of April. We will receive formal genetic counseling along with meeting with Corbin’s Dr. Most of the genes known to cause dystroglycanopathies are also autosomal recessive (meaning we both would be carriers). We are also trying to set up an appointment with a pediatric eye doctor. Again, one of the areas doctors are most concerned with this family of disorders are the brain and the eyes. He has already had an MRI of his brain so the Dr wants to double check his eyes.

Also, when they took the muscle sample they took skin tissue. They have an additional test they can run using the tissue to see if they can get an idea of what the gene may be. At that point we can do additional genetic testing. Unfortunately the test takes a few months due to the process they put the skin tissue through.

The last good piece of all this is that one of the major focuses of the University of Iowa is on dystroglycanopathies. We had agreed to allow Corbin's muscle and skin to be part of a study to find new genes and further the scientists knowledge of muscle disorders. However, there is a lab that extensively studies dystroglycanopathies. We will be signing Corbin up to partake in this study. If we can't identify the gene causing these problems, hopefully the scientists will be able to come up with a conclusion for us.

This has lots of big words in it and is very confusing. I have done the best I can to take what the doctor said and put it into words. I apologize if I didn't use the correct medical terms ha!  If it confuses you more than it makes sense, then you are on my wagon!

As always, we appreciate all your support and prayers. We are fighting an uphill battle it seems, but we know this kid is going to be just fine with lots of love.