Official Diagnosis

Thank you, thank you, thank you, a million times thank you to everyone who has reached out to us during the last several weeks. I cannot tell you how much our family has been strengthened and uplifted by your support and prayers, not only for Micah, but also for Jake and me. Since posting my last entry, I have felt a peace and calm that I didn't think was possible, given the situation. For months and months I had been experiencing high levels of anxiety, causing insomnia and even panic attacks. Over the last month, my anxiety has all but disappeared. I KNOW that I have been blessed in this way because of prayer. I have been so humbled by seeing this work in my life. So when I tell you thank you for your prayers, I MEAN IT. There aren't words to describe my gratitude. I have been in awe by all those who have contacted us and offered help in every way. Thank you. We are so grateful.


We had Micah's first appointment at the Muscular Dystrophy clinic at Stanford. We met with the director there, Dr. Day, as well as about 75 (only slight exaggeration) other people who will be working with Micah. Micah's diagnosis of Duchenne Muscular Dystrophy was confirmed by result of a genetic test. I still don't know if I am a carrier of MD, or if Micah's X chromosome just had a spontaneous mutation. In the end it doesn't really matter, but I am being tested to see if I am a carrier, and I think I will get those results back in the next week or two. I also wanted to have Georgia tested to see if she is a carrier, but the genetic counselor advised against it, for several (good) reasons, so we will let her make that decision when she is an adult. 


Micah has been making some good progress lately with his speech and fine motor skills. His doctor told us that he will continue to make progress for a few years before he begins to decline. The reason for this is because while dystrophin (which his body does not produce) is the largest protein in the body, there are also smaller proteins that his body does make, and for now, they can compensate, to a certain degree, for the lack of dystrophin. We were also told that while DMD is affecting his cognitive abilities (which are causing his problems with speech), he will not experience decline in those areas. He said it is like a learning disability, and that we can learn ways to work around it. He did say that boys with DMD often have a difficult time learning to read, so we will be aware of that. 


He also talked to us about some drug trials that are currently under way. The results of these trials have been very promising. We are hopeful that these drugs will be approved in the next few years, and are praying that Micah will start treatment before he loses mobility, to preserve the muscle tissue he has.  It is a bit difficult for me to explain on a blog what these drugs are and how they work, but if you want to know more, you can search exon skipping AON treatment. In a nutshell, the drug, given via injection, causes the genetic code to skip over the part of the gene (called an exon) that has been deleted, which results in production of dystrophin. Like I said, the results have been very promising, and we are hoping and praying that Micah will have access to this treatment as soon as possible. 


In the meantime, we are on a short break from all of his therapies. Starting in August and September, Micah will begin physical, occupational, and speech therapy from a new team of therapists, as well as a special education preschool. Things will be busy! But we are used to busy, and at least now we know what we are working with, and can make appropriate goals and expectations. 


Thank you again for your prayers and support and love. I can never tell you how much it means to us, and how much we have been blessed as a result. We feel so fortunate to have such loving and caring friends and family. Thank you from the bottom of my heart.