Rare diseases affect 1 in 10 Americans. A rare disease is one that affects fewer than 200,000 Americans. Today there are approximately 7,000 rare diseases and it is believed that approximately 80% are caused by faulty genes. If there were a definition for an ultra-rare disease, APS-1 would certainly qualify with only 100-150 patients estimated in the United States. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.
I often hear versions of the following well-meaning statements: “I don’t care if it’s a boy or girl, I just want a healthy baby” and “All I want is for my children to be happy and healthy.” I know that I used to say similar things. I had never stopped to consider what it would mean if my child wasn’t actually healthy. What then? We know now. You wake up each and every day and fight. You do the very best you can to help your child stay as healthy and happy as possible. That’s just instinct. We are embarking now to the next steps: raising awareness and finding a cure. We need your help.
Raising awareness for one rare disease raises awareness for all rare diseases. While APS-1 will almost certainly never affect you directly (may the odds be ever in your favor), there’s a good chance some rare disease will directly or indirectly affect your life or the lives of those you know and love. While there is no known cure for APS-1, there is hope for a cure in the future. Promising clinical and scientific research is happening around the globe, including here in California at the University of California, San Francisco. Researchers are making break-throughs that hold hope for a cure in Samantha’s lifetime. We take it day by day and hope that some day Samantha and others living with APS-1 can live completely normal lives.
