Autoimmune Polyglandular Syndrome Type 1 (often called APS-1 or APECED) is an ultra-rare autoimmune genetic condition. APS-1 reportedly affects only 1 in every 2-3 million people in the United States—that’s just 100-150 people in the U.S. and an estimated 500 world-wide.
This condition is a complex, inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a constellation of symptoms and side-effects with potentially life-threatening endocrine gland and gastro-intestinal dysfunctions. While the symptoms of APS-1 are variable in each patient, all patients will have components of at least two of the three major conditions that are the result of this syndrome (sometimes called the “triad”): chronic mucocutaneous candidiasis (chronic yeast infections), hypoparathyroidism (inability to maintain serum calcium level), and adrenocortical insufficiency (aka Addison’s Disease).
In addition to the classic triad, APS-1 patients are at increased risk of acquiring additional autoimmune conditions through-out their lives, including alopecia areata, autoimmune lung disease, premature ovarian failure (this one gets me every time), vitiligo, autoimmune hepatitis, Type 1 Diabetes and, unfortunately, the list goes on.
When properly diagnosed and treated, patient life expectancy is not materially decreased (the good news), but quality of life is usually impaired significantly (the bad news).
APS-1 is inherited recessively, meaning that both parents have to be carriers of the gene mutation (in our case, the AIRE gene)—so Samantha has both her mom and dad to thank. Being a carrier doesn’t mean that you have the disease, however. This explains why there is no family history of a similar problem. If a child inherits the bad gene from both parents, she or he will have the disease. If a child inherits the bad gene from only one parent, she or he will only be a carrier. There’s a one in four chance that a child will inherit both bad genes. There’s a 50% chance that Julia is a carrier and a 25% chance that she escaped with no bad AIRE genes.
With the odds at 1 in 2-3 million, it’s hard not to think back on the fateful day when Brent and I first met on my first visit to UC Davis Law School. Who knew then that someday we’d be posting this story on a website. Of course, we wouldn’t change this fate for anything in the world. But, we can take actions today to help Samantha and others affected by APS-1 live more full and complete lives.
Samantha is enrolled in an amazing clinical study at the National Institutes of Health (NIH) in Bethesda, Maryland. The NIH is the federal government’s primary medical research institution. Click here for a link to additional information about APS-1 published by NIH. While NIH is a truly amazing place, doing amazing work, we hope you’ll never have reason to go there.
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. Rare diseases when taken together 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.
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 UCLA and UCSF. 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.
