Claire Altman Heine was our second child, first daughter, born in January of 2004. Claire was the result of a planned, healthy full term pregnancy and delivery absent of any complication. At our routine eight week check-up our pediatrician noticed that Claire's tone was a little "floppy". By the end of the week we met with a pediatric neurologist who diagnosed Claire on site ... Spinal Muscular Atrophy, Type I.

We began to research this disease and attempt to make sense of what was happening. Sadly we came to realize Claire's story was one of many. While we had never heard of SMA, it is the number one genetic killer of infants under two. SMA is a recessive genetic disease but as in our case, there is often no traceable "family history" of the disease. Approximately one in forty people carries the gene that causes SMA. It is an equal opportunity killer, there are no race or gender preferences. While SMA is relatively common it is virtually unheard of. SMA is as common as Cystic Fibrosis in the entire population and Tay-Sachs in the Jewish population.

We found these statistics alarming. Before our first pregnancy we followed the recommended carrier screening for Cystic Fibrosis and Tay-Sachs. Why wasn't carrier testing for SMA recommended given its prevalence? In asking this question we began our mission. There is a carrier test for SMA yet it is only recommended for those with an affected family member. However, the vast majority of SMA carriers are unaware they carry the gene that causes this deadly disease and have no family history of SMA.

Claire passed away at 9 months 14 days. Her parents and big brother will always miss her. We take comfort in how much we enjoyed our brief time together, her quality of life and her quality of care. Claire's illness and death will always be a tragedy for our family. As the Claire Altman Heine Foundation helps other families, Claire's memory and legacy live on.