On February 4, 1997, we were blessed with the birth of our second child, Madison Rose. She came into this world like any other child-screaming and kicking, pink and rosy. She was our very special little girl. Little did we know just how special she would be.
Beginning around four months of age, we noticed that Madison was having difficulty accomplishing normal physical developmental skills. Soon after, Madison was diagnosed with a relatively unknown genetic neuromuscular disease called Spinal Muscular Atrophy (SMA). SMA is a group of inherited diseases that destroy the nerve cells called motor neurons controlling voluntary movements such as crawling, walking, head and neck control and swallowing.
Here are a couple of startling facts about SMA. SMA is the leading genetic killer of infants and toddlers under the age of two. Unknowingly, seven million Americans ( one in 40 people) are carriers of the SMA gene. There is a 1-in-4 chance of passing this gene along, thus having an affected child. One in 6,000 live births is affected.
Madison was diagnosed with the most severe and life-threatening form of this disease, Type 1, also known as Werdnig-Hoffman disease. Based upon this original diagnosis, she was not expected to live past the age of two. As we have learned more and more about this disease, we believe her chance of survival is much better than the original diagnosis. We have already traveled to Newark, New Jersey, to visit a pulmonary specialist in the area of SMA. Dr. John Bach, most famous for his work with the actor Christopher Reeve, has given us real hope that Madison can live a comfortable, happy life well beyond the age of two.
Our family has joined forces with other families in Ohio to support research for SMA and to develop a clinic at the Ohio State University dedicated to SMA. It is our belief that the best hope for our children lies in the commitment of funds toward this clinic and in the research to find a cure. Already, OSU has led the way in blood testing to diagnose SMA. In addition, OSU has developed SMA mice models. They have proven that by increasing the SMN2 protein in these mice with SMA that it will correct/cure them. Further drug testing and development, gene therapy, and stem cell research is currently being done on these mice as well as on zebra fish to find a safe and effective treatment for SMA. Recently, the National Institute of Health has granted funding towards a pilot study on SMA Research. SMA is serving as a model. The potential cure for this dreaded disease and others like it lies within this promising research.
Without question, our highest priority would be to save the lives of our children; but beyond that, we are committed to making this disease easier for other families to deal with. We have learned so much about this disease in such a short period of time. A primary goal of the OSU clinic would be to network information concerning this illness. Throughout Madison's battle with SMA, doctors in central Ohio knew few strategies to deal with the impact of this disease. Through much struggle and countless sleepless nights, much has been learned; much more needs to be learned.
Madison has fought through some very tough times in her short life. We expect she has more battles ahead. She has just passed her 12th birthday, and at the moment she is doing very well. She can laugh, sing, talk, dance, use a computer and power chair, and still has some movement in her arms and legs. But her eyes tell the real story. They are big, bright and beautiful; they even twinkle!
Updated December 18, 2014: Madison continues to defy the odds. She continues to fight through the very tough times. She has become weaker but makes full use of the abilities she has. She is very active on the internet and has become a bit of an internet celebrity! Madison loves to go to movies, concerts and her most favorite place, Walt Disney World. She is quickly approaching her 18th birthday! And yes, her eyes still tell the real story. They are just as big, bright and beautiful as they were when she was 12. They still twinkle!