Hi Linda and everyone, I am so happy that this support group was
created. I am glad that we met 2 weeks ago at Dr. Maclaren's
office. My 10yr old son, Joel was diagnosed with APS1 in May 2006.
We came upon this diagnosis because my son has Metaphyseal
Dysplasia, a rare bone problem that causes him pain in the ankles
and sometimes knees. Dr. Andrew Eichenfield, a Rheumatology
specialist from Presbyterian Hospital NYC, did x-rays on my son and
compared it to others in the internet that look similar. This is
how I came to know about APECED, which is what he called it. I did
research and found an excellent doctor, Dr. Noel Maclaren, whom
confirmed this disease through genetic testing. I always felt that
there was a problem with my son's health since he was 11 months
old. That's when he developed mucocutaneous candidisis in the
mouth, and fingernails at 5yrs( cleared at 5 1/2 yrs), rashes on the
body when he was about to get sick, chronic cough, rapid, deep
breathing, low white blood cells, fungus in one ear at 6yrs, and was
hospitalized in 1998 4x. In Jan 2000, was the last time he was
hospitalized. He would get sick frequently and was followed up by
an infectuous disease doctor and an immulologist that would always
check his blood. Everything looked good in the blood except for the
wbc which was always lower that normal. Today, he is much healthier
despite the fact that he has adrenal problems, chronic active
hepititis( liver specialist at Mt. Sinai said that it is very mild
and does not need a biopsy), and the beginning of Addison's disease.
I do not see any of the symptoms that should be present with all
these problems caused by the disease. Also my son is not taking any
medications at all. My son's main problem is the pains in his ankles
that does not allow him to walk long distances. I was told and read
articles that this problem should clear up in the teenage years. My
son knows about his condition. I told him to tell me of any
symptoms that may arise in the future. I have a major problem and
need your help and opinion. My family does not know about my son's
disease. All I tell my parents, sister, brother and my husband's
family is that my son has a weaker immune system and that's why we
take extra care of him when he gets sick. My mother adores my son,
since he is her first grandson. She's 58yrs old and is also sick
with chronic cystitis, mycosis fungoides (skin cancer),
fibromalysia, and chronic migraines. My father 57yrs old is fine but
I am afraid to talk. I don't know what to say. Please give me your
advice since I know you all went through this difficult stage
already.

Rosa R.