Good morning racers!
As we leave Wrigley Field and begin our trek to Washington DC, the APS Type 1 Foundation would like to give a heartfelt “thank you” to everyone who is joining us on this journey. Having a rare disease is by definition a lonely experience, so events like this are a welcome opportunity to make new connections and shine a light on APS Type 1. Throughout these two weeks, you will receive occasional emails highlighting different aspects of our work and community. If you have any questions along the way, please send them to email@example.com. Welcome to everyone!
What is APS Type 1? (Click here if you prefer a video to reading)
APS Type 1 is a rare genetic autoimmune disorder in which cells of the immune system attack certain glands and organs in the body. For reasons not well understood, the parathyroid and adrenal glands are often the first tissues targeted. As a result, people with APS Type 1 have difficulty regulating calcium and phosphorus levels due to hypoparathyroidism, which can manifest as a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; fatigue; and even seizures. The effects of adrenal insufficiency (also known as Addison’s Disease) include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Additionally, people with APS Type 1 often experience chronic yeast infections that affect the skin and mucous membranes, such as the moist lining of the nose and mouth. Other manifestations of the disease can include (but are not limited to) alopecia, vitiligo, immune deficiency, hepatitis, premature ovarian/testicular failure, pneumonitis, type 1 diabetes and weakened or no tooth enamel.
APS Type 1 is predominantly caused by mutations in the gene AIRE. AIRE provides instructions for making a protein called the autoimmune regulator, which is expressed in the thymus. This autoimmune regulator is important in helping the thymus to remove immune cells that inappropriately react to normal proteins in the body and are therefore “autoimmune”. Without the AIRE gene, this process doesn’t happen, and self-reactive immune cells are allowed to proliferate. APS Type 1 is typically inherited in an autosomal recessive manner (two unaffected carrier parents have a 1:4 chance of having a child with APS Type 1). The incidence of APS Type 1 in North America is not well known, but is considered to be significantly lower than other parts of the world. In some areas, including Scandinavia, the incidence is thought to be much higher.
The money you help raise during this walk will support research and services for APS Type 1 patients and families. Thank you!!