Rare Disease Education: Autoimmune Polyglandular Syndrome Type I
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra of the Week: Autoimmune Polyglandular Syndrome Type I
Military men and women go through rigorous screenings and drills to ensure that they're fit for duty and aligned with the mission objectives of their own side. If these screening filters were to fail for any reason, they run the risk of allowing malicious agents to roam through the organization, attacking from within. This is precisely what happens to the immune system, our body’s military of sorts, in autoimmune polyglandular syndrome type I.
Autoimmune polyglandular syndrome type I is a rare genetic disease caused by mutations in a gene called autoimmune regulator (AIRE). The AIRE gene is responsible for the production of a protein that is used to filter immune T-cells capable of interacting with the body’s self antigens. Without it, these cells escape into the circulation instead of being destroyed and attack various organs, especially endocrine glands.
The presentation of each patient is variable, but will often fall within at least two of the three following major conditions: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency. First, chronic mucocutaneous candidiasis refers to recurrent candidiasis infections that may involve the skin, nails, and mucosas. Second, dysfunction of the parathyroid glands can lead to a host of clinical findings, including rigidity (tetany) and seizures. Third, adrenocortical insufficiency is characterized by insufficient functioning of the adrenal gland which may lead to weakness, low blood pressure, dehydration, salt craving, and more. These side-effects can become life-threatening if not correctly identified and treated. There can be other manifestations as well.
Autoimmune polyglandular syndrome type I affects as few as 1 in every 2 to 3 million newborns.
To learn more about the diagnosis and treatment of autoimmune polyglandular syndrome type I, watch the dedicated Osmosis video on YouTube and Osmosis.org
Meet Gaby Talarico
To the parents of 11-year-old Gaby, the road from her first symptom to her definitive diagnosis feels like it took over a decade. What started with a rash as a small baby would turn out to be a disease so rare there were only about 20 people diagnosed in the US. Gaby’s message to her peers is that she is no different from everyone else, and can reach the same heights.
About 10 years later, Gaby goes even further and shares her college admission story in front of over a hundred people at the first International Symposium on Autoimmune Polyglandular Syndrome type I. One of the best ways to contribute within the rare disease community is to share the successes and pitfalls of their odyssey, especially as a patient. Watch Gaby both tell her story and give her presentation.
Organization Taking Strides
The Autoimmune Polyglandular Syndrome (APS) Type 1 Foundation was founded in 2012 by a group of devoted parents who were committed to ensuring the best possible care for their children suffering from the disease. They wanted to improve the patient experience in APS Type I, and thus took action and built a community that has since expanded to include families, caregivers, doctors, and scientists.
Over the years, the foundation has made significant contributions in education, awareness, and research. The foundation website provides a wealth of updated information, invaluable for newly diagnosed patients, clinicians, and families. They've created the first APS Type 1 web-based registry where patients can share their experiences and data. Additionally, to date, they have hosted four international symposia to allow families and researchers to come together as key stakeholders in research for the disease. To go even further in fostering a global effort in research, they are in the process of developing a global database of medical professionals and scientists who are contributing to relevant projects. The foundation itself has funded both its own research and others’ at the National Institutes of Health.