As many of you know, my daughter, Abigail, has Spinal Muscular Atrophy (SMA). SMA is a terrible genetic disorder which affects children all over the world. Kids with SMA lack a gene which produces protein necessary for the proper development of motor neurons. Because the motor neurons are underdeveloped, there is inadequate communication between the brain and the muscles and as a result, kids with SMA have extremely weak muscles throughout their bodies. They can’t walk. Many cannot sit upright by themselves or hold their heads up on their own. They sometimes have difficulty chewing and swallowing food. They often have very weak coughs. Weak coughs are often a major source of health problems for these kids. Many children with SMA get serious pneumonias which require prolonged stays in hospitals. No one really thinks about coughing much but it is a very basic mechanism for fighting off respiratory illnesses.
About 1 in 40 people are carriers of the genetic defect which causes SMA. (You read that right, 1 in 40). The gene is recessive however so for a child to have SMA, he or she needs to get the bad gene from both parents. Roughly 1 in every 10,000 children have SMA making it a “common” rare disorder. There are three types of SMA. Type I is the most severe. Type II is the intermediate type and Type III is the least severe. Abbey is a strong type II and she is actually in fairly good health overall.
The good news about SMA is that its days are numbered. Scientists know quite a bit about SMA – they know the exact gene which causes the problem; they know exactly the type of protein which needs to be synthesized to encourage motor neuron development and so forth. The medical community senses that they are close to cracking this problem and SMA attracts lots of researchers as a result. With any luck, I will see SMA eliminated in my lifetime.
Every year, my wife, Melissa, helps raise money for SMA research through a Walk-and-Roll fundraiser for Families of Spinal Muscular Atrophy (FSMA) in Abigail’s name. If you would like to donate to the cause you can click on the link below.
If you are a graduate student (either at Michigan or anywhere else) then I would suggest that you don’t give money. I understand the permanent income hypothesis but the reality of grad student life is one of poverty. I suggest that you “pay it forward” and donate to a worthy charity once you are done with your degree have a job. If you are a graduate student in my class, please do not donate as I think this would create a conflict of interest.
If you follow the link to Abbey’s site, you will find a picture with my wife and two kids (Sam and Abbey). The fat non-photogenic person standing behind them is me.