As most of you probably know, my oldest grandson Evan was born with SMA. SMA stands for "Spinal Muscular Atrophy". It is caused by a missing or mutated SMN1 gene. The SMN1 gene produces a protein called SMN protein that sustains the protective lining that surrounds normal nerve cells. The severity of the symptoms depends on how many back up genes you have. Some people have plenty of backup genes and some don't have any. A baby born with out the SMN1 gene and no back up genes will not live to see his first birthday. With out enough of the SMN protein the nerves that control voluntary functions of our body (arms, hands and even swallowing) begin to waste away and eventually they will fail altogether.
It is surprising to me that before Evan blessed our lives I had never heard of this disease before. One in every forty people are missing at least one of these genes but they don't know it because every human being has two sets of genes, one from your mother and one from your father. One in 6,000 babies born however are unlucky enough to receive two sets of bad genes, one from each of their parents. It is in fact the most common genetic childhood disease and the number one genetic killer of children.
What is amazing about SMA is that it may well be the first genetic disease that can be cured. It is the first disease that they are trying to treat with stem cells and at least two different treatments are seeing good results in animal studies. Unfortunately it can be a long road from animal studies to a cure. The first cure is an attempt to grow new nerves using stem cells. This treatment would also be a cure from spinal cord injuries. The doctor treating Evan told me that they have successfully grown new nerves in a rat. The problem is that the nerve in a rat is about an inch long while the nerve from my spine to my hand is a nearly a yard long. A much greater challenge.
The second treatment is actually preparing to go to human trials and our little Evan is being considered for this trial. I know little about it but what I've been able to read it sounds like they have an injectable SMN protein. One shot and your nerve cells are protected for several months. It works in a Monkey now we need to see if it will work in a man. I don't think this shot will allow Evan to grow stronger but what a blessing if it will prevent him from getting worse. It would be an even greater blessing if a new born child could receive these shots and live a normal life. A friend of mine develops tests that are used to screen new borns for serious diseases like SMA. He told me that they don't screen for SMA because even if a child is found to have it there is nothing they can do for him. Now perhaps they will start screening them.
My daughter Kira (Evans mother) is a professional Oboe player. She is trying to draw attention to the disease and has made the following video to try and get her hero Josh Groban to help her write a song for her Oboe that she can dedicate to all those families who are living with this affliction. I guess it couldn't hurt to try. If you feel so inclined perhaps you can "like" her video and share it with your friends. Wouldn't it be great if Evan could actually see a cure in his life time.