hi everyone,

came upon this site as I was browsing apeced. I am a mom whose
three daughters diagnosed with apeced. All three followed same
progression. Firstly hypoplasia of enamel of the teeth which was
not recognised as a symptom of anything else. Next my eldest
daughter suffered from fits, diagnosed as hypocalcemia and
parathyroid failure and treated as such. Unfortunately she later
died after a minor operation. Found to have adrenal failure. My
other daughters had already been diagnosed with parathyroid failure
and one had severe candidiasis in her fingernails. They were then
tested for adrenal function. Both were found to be low and apeced
was diagnosed. Since diagnosis one daughter has lost thyroid
function and both have lost ovarian function. Interestingly these
two daughters are identical twins, but one seems to cope with the
condition better than the other. They both seem to follow
progression closely, but the elder twin has had problems over the
last few years which seem to relate to dehydration. She only has to
get a slight cold and ends up in hospital. This year she has spent
8 months on and off in hospital. She also suffered from severe
cramps in her legs which often left her immobolised, during last
admission this has been sorted (hopefully) low pottassium and
magnesium. She also suffers from acute lethargy (linked I think to
adrenal function. I have never come across anyone else with this
condition and would love to hear from others who suffer from this
often misdiagnosed condition.

Karen.