MRI Neurology Follow-Up

Sorry I haven't posted in awhile. We had Noah's follow-up MRI last Wednesday and everything went well. He had to be sedated which meant that he couldn't have his formula past 2:30am so needless to say he was very cranky up until his 10am appointment time. He came out of the sedation beautifully and only needed oxygen for a little while. By the time we saw him in the recovery room he was already breathing room air and doing so great. I am so proud of him!

Today we went back to the neurologists office to get the results. Noah had a previous MRI done when he was about 20 days old. That MRI showed brain damage that was explained to Nathan and I as "holes" in his brain. They didn't really give us much to go on then except just giving him the proper therapies to help him reach milestones. By the age of 6 months it was definitely apparent to us that he was behind developmentally. He is still unable to hold his head up and does not roll or have much movement like you would expect. When we saw his doctor in January he scheduled the second MRI and also ran a battery of blood tests testing for everything from Downs Syndrome to other crazy chromosomal disorders. Everything has come back within normal limits. This MRI however, has given us a lot of answers but we still need a blood test to confirm. What they found was that Noah does not have any Myelin formation in his brain. The Myelin sheath is a fatty layer that covers and protects the nerves in the brain as well as helping send and receive signals throughout the body. With this lack of Myelin (or hypomyelination) it effects everything from motor skills to basic brain functions for breathing and involuntary movements. This is why his vocal cords are slow working. The signals from the brain are not able to get to those muscles in order to move them properly. This group of diseases are called leukodystrophies with the most common one being Pelizaeus-Merzbacher Disease (PMD). The only way to diagnose this for sure is a very expensive blood test which we will hopefully get ordered within the next few weeks. These diseases are very rare so even if this specific blood test comes back normal his doctor is very certain that we can just keep testing for diseases within this same classification. I will post a link to the PMD Foundation website for those of you who want to read a little more about it. I am just beginning my research as well. But from what I have read these children very seldom learn to walk and hardly ever talk. They have the cognitive ability to learn and understand things but do not have the coordination and physical ability to speak. There is a wide range of severity so it is a waiting game to see what Noah will be able to do. He is still getting all of his therapy and that can only do good things for him.

PMD is an X-linked genetic disorder. This means that I am most likely a carrier. I have a 1 in 4 chance of passing this disease to my children and a 50% chance if the child is a boy. If we ever want to have more children we will have to go through genetic counseling and have more extensive prenatal testing. I am going to be very honest right now. This scares the living daylights out of me. I so badly want to have babies. It might seem selfish but I feel like I didn't get to have a baby with Noah and I wanted to have another chance. I love that boy to death and will do anything for him but nothing about these last 7 1/2 months has been normal. He has brought so much joy into our lives but at the same time I feel a sense of loss. A loss of the child I dreamed about and prayed for in my belly. A loss of the plans I had for the future of my family. I need a chance to grieve the loss of a "normal" child. I do not want to replace my Noah but I crave the feeling of holding a newborn to my chest and hearing them cry. With this diagnosis I am now scared. We will have a lot of praying ahead of us to decide what is right for our family. Only God knows the answer and I hope we can live up to His desires.

This is going to take a lot of time for me to digest all of the new information. I am not doing very well at the moment. I have cried basically since we left the appointment this afternoon. I am physically ill. My body does not handle stress very well and likes to make me throw up. Please pray for us. All of us. Please pray for acceptance of this new diagnosis. Please pray for comfort during these rough and uncertain times. Above all, do not feel sorry for us. We have been blessed with the most special little boy and I want people to feel nothing but joyful for us that he is ours.


 Here is the link to the PMD Foundation website: www.pmdfoundation.org