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Hi everyone, so glad to have found this site! My 23 yr. old daughter was dx with NCCAH when she was 14. She had all the symptoms of NCCAH; early bone fusion, amenorrhea, low blood pressure, light-headedness upon arising, acne, anxiety, depression, mood swings, hursitism, fatigue, obesity, more male-like body shape and an inability to cope with stress. The Endo with a PhD, who dx'd her, checked her DHEA-S levels and they were in the high 500 range. He dx'd her based on her symptoms and those levels but failed to do an ACTH stim test. I didn't know anything about NCCAH or it's treatment, so I believed him when he told me the only tx was to destroy her adrenal glands with high doses of steroids or remove the adrenals. He put her on .75 mgs of dex for 9 months. She became very cushingoid, it was a nightmare! During that time I found out that was an out-dated tx and did not take her back to him, and began to slowly wean her off the steroids. I found Dr. New's site and called her office. The were doing research on CAH and needed test subjects for the classic form but wanted to see us. My son and I are symptomatic too, not as obvious as my daughter, so all three of us went to NY to see Dr. New. We did not have a good experience. We mainly dealt with her "fellows"and ATCH stim tests were done on my son and I, my daughter was still coming off the dex so she couldn't have the test. My son and I's Stim test levels were high and we were told we were "carriers" but "carriers" weren't supposed to have symptoms, but we do! I talked to them about our symptoms and they suggested that we needed to exercise and make lifestyle changes to feel better! What a joke! So disappointing! When we got the results of the DNA testing several weeks later we got a short summary stating that we did not have a 21-hydroxylase deficiency. No comments on the "carrier" levels or my daughter's glaring symptoms. We felt victimized again. Not knowing what we had or if we were crazy we did nothing for 4 years. I had thyroid cancer and was being treated at Vanderbilt University in Nashville. I took my daughter to see the head of Endo. We had high hopes! We told him of her symptoms and history, and her NCCAH dx (I know the dx is right) without an ACTH Stim test. He said he believed the dx was right too and was prepared to treat her. I asked him to do an ATCH stim test and he did. We got a letter from him with the results and he said it was normal! He suggested we get her tested for PCOS and wanted no follow-up appointment! It was devastating!
Questions- Could the high levels of steroids that she took when first dx'd have damaged her adrenals and affected the Stim test? I don't know what Endo to go to now. What DNA tests do we need and where do we get them? We are all still untreated. Have any of you heard of a connection between ADD and CAH? Is lack of motivation and problems with school and work part of this disorder? I would be so grateful for any help you can give me....this can be a very lonely road.
