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I am Gaby

This is my Story:


 

It took more than 10 years to get my rare medical condition diagnosed.  It’s a very rare disorder that goes by two names:  APS Type I and APECED.  It affects only about 150 people in the U.S.  My parents do fund-raising for research and started a website so that we could connect with others and share information.

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I have APS Type-1

 

APS Type-1 (autoimmune polyendocrinopathy type I) is a very rare and complex disorder of the immune system that causes multiple endocrine glands to dysfunction.  It is caused by defects of the AIRE gene, and may present during infancy, early childhood or early adolescence.

  • Chronic candida (yeast) infections of the skin may be the first symptom and are the hallmark of APS Type 1.
  • Hypoparathyroidism (under-functioning of the parathyroid glands) develops in about 75% of children with APS Type 1.  This causes below-normal calcium levels that may lead to seizures if not recognized.
  • Adrenocortical insufficiency (Addison's disease) is typically the second endocrine disorder to appear in people with APS Type 1.  This can become life-threatening if not identified and treated.
  • Patients with APS-1 can also develop other endocrine gland deficiencies.
  • Treatment of APS-1 syndrome is currently directed toward the specific diseases apparent in each individual, with hormone replacement therapy.


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