Congenital Muscular Dystrophy

Another trip to the doctor, neurology this time, and a new possible diagnosis. We originally scheduled a neurology appointment because of the seizure that Addy had back at the beginning of March. Since then, neurology has become a key part in helping us determine a possible new diagnosis for Addison. I was anxious to see the neurologist for the first time to talk about Addy's recent brain MRI as well as the spinal MRI and skeletal survey. A few weeks back when we saw Dr. Dabrowski, he too felt that neurology would be very helpful. He certainly was. We saw Dr. Acsadi from Children's hospital. What a wonderful man!

He definitely put my mind at ease with the brain MRI. He felt that Addy's seizure was fever/viral related and hopefully was just a fluky one time occurrence. He did give us a prescription for Diastat which is a valium that can be administered rectally should she happen to have another seizure. That would allow us to stop the seizure if it happened to progress for a period of time to ensure that no damage is occurring to her brain. He also felt that the MRI was normal for her age and after seeing her felt as though we shouldn't be worried about anything with her neurologically. Whew!

We did receive the results from Addy's spinal MRI. It showed that C2, C3 and C4 (the vertebrae in Addy's neck/spine) are fused together. This blew my mind since we had a cervical MRI done at 4 months along with several cervical x-rays along the way. All of which came back normal. It does however, explain why Addy has so much stiffness in her upper torso and neck area. The MRI also showed a possible issue with one kidney which might require further testing. No huge concerns about the kidney at this point.

Now, onto the next possible diagnosis. After examination, Dr. Acsadi said that he has seen a case several years back that presented much like Addison. The diagnosis ended up being congenital muscular dystrophy or rigid spine syndrome. The genes for the syndrome have recently been detected and he would like Addy to undergo genetic testing for those specific genes. If those tests come back normal, then we will proceed to a muscle biopsy. This involves taking out a small piece of muscle, usually from the thigh. When the muscle is studied under the microscope, it is possible to look for changes, which might indicate a muscle problem. In children with a muscular dystrophy the muscle fibres, instead of being evenly sized, show a great variation and some of these fibres are replaced by fat and fibrous tissue. Some more blood work will also occur to measure for the levels of muscle protein. During this time, Dr. Acsadi will be reviewing all of Addy's MRI's and x-rays from birth to now along with a radiologist to look closer at the muscles.

If this should become Addy's diagnosis, it is a genetic condition. It would mean that myself and my husband are carriers of the gene although we present no symptoms. We have a 25% chance or 1in 4 pregnancies to pass this on to our children. At this point we are praying that everything will turn out okay with the new baby. I am able to tell from comparison, that the new baby definitely moves around in utero much more than Addy ever did. However, at the time, it was my first pregnancy and I didn't have any idea how much a baby should be moving.

So our next step along with all the testing is to begin attending the muscular dystrophy clinic that Children's Hospital holds each month. This includes doctors, therapists, orthotists, vendors and representatives from the Muscular Dystrophy association who will be on hand at each clinic to watch for progression with each child as well as get us set up with many supports that we will need as Addison continues to grow.

Should this ultimately become Addy's diagnosis, we are fortunate that the type of MD is not too severe. It is difficult to tell at this point if she will ever gain enough muscle strength to become an independent walker and if she does whether or not we will see changes in her muscle strength as she grows. Only time will tell. Scoliosis will be a huge component to keep an eye on. She currently does not have scoliosis, but this condition can lead to it.

It certainly has been a whirlwind of a month, but I guess in the end it will lead to answers that I have been looking for since the day she was born. Here are a few cute pics of the last week