Jeanette's APECED Home Page


My vision
 is to link families and health professionals
with sound and empowering information
and with each other,
to help maximise the quality of life
for people with APECED (APS1).

My sincere thanks to all those who have blessed my life directly and indirectly, and helped make this webpage a reality from New Zealand, 
the first country to experience the dawn, 1 January 2000.

 
 
COMING SOON
 

 1.  What is APECED (APS1)

Level 1 - for families

 Level 2 - for health professionals
 

2.  Tips for living with APECED
 

3.  History and Hopes: The research story, current treatments and future hopes
 

4.  Your questions and feedback
 

5. Links to other sites


It is my intention that the information will gradually be put on line.

Meanwhile, you are welcome to email me for information on the topics indicated:

 
 
 
 


 

Relax, enjoy the flowers
 
 

My Credentials


  • I have lived with APECED (APS1) for more than 50 years.
  • I have an MSc in Cell Biology, a PhD in Paediatrics (Auckland University) and have spent 12 years in paediatrics research.
  • I still have a part-time challenging career as a scientist and writer.
  • I do not have medical qualifications for practising medicine
APECED* (also called APS1**or PGA1***) is a rare autoimmune disease affecting mainly the endocrine glands, but some other organs as well.

The disease results because of mutations in just one gene, which makes the AIRE autoimmune regulator protein.  Inheritence is autosomal recessive.  That means that both parents have at least one faulty gene for the AIRE protein.  If a child inherits the faulty gene from both parents (a 1/4 chance), APECED results.   Confirmation of the diagnosis is now possible by genetic testing.

Symptoms typically begin in childhood.The first signs in a young child can be one or several fits due to low blood calcium. If the cause is not recognised, death results. 

The most common features of APECED are parathyroid gland failure (affects calcium metabolism, including tooth enamel and nails), chronic susceptibility to candida yeast infection, and Addison's disease (adrenal failure).

Which other manifestations affect a person, and when the symptoms emerge, is variable.  Options include alopecia (total hair loss), vitiligo (blotchy loss of skin pigment), ovarian failure, testicular atrophy, hypothyroidism, gastric parietal cell atrophy, hepatitis, intestinal malabsorption, insulin-dependent diabetes mellitus, sore light-sensitive eyes.

Why some people have the full constellation of problems, and others do not, is not yet understood.  Part of the explanation may be the type of mutation in the gene for the AIRE protein.  But there are also interactions going on with other genes, which need to be identified.
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*APECED = 
autoimmune endocrinopathy-candidiasis-ectodermal dystrophy

**APS1 = 
autoimmune polyendocrine syndrome type 1

***PGA1=
polyglandular autoimmunity type 1
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APECED takes its toll on the functioning of many glands and organs over a lifetime.  Living healthily with the disorder requires:

* constant discipline

* shouldering disappointment when downtimes hit.

* understanding the juggling act to best manage medications every day.

*understanding the interactions between some of the disease components.

* coping with fears, frustrations, and delays when health professionals we encounter don't have the experience with APECED to know what is best for us. 

* acknowledging that we need life long support and monitoring for development of new symptoms.
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APECED need not trap our minds and our dreams.  The relentless nudging from a chronic disorder like APECED can either beat us, or it can take us to the heights and depths where dreams can become reality.

Research is close to understanding how the AIRE regulator protein works. There is hope from current research that in the not too distant future, appropriate immunosuppressives may significantly tame the destructive autoimmune process.

I passionately value quality of life.  I despair at the waste of time and effort, knowing others have to trudge the same hard path to learn how to live harmoniously with APECED.  Sound information empowers us to live longer, happier, and more productive lives.


Last modified September 2013