I was on this forum a few months back after finding out what my brother died from and there were lots of kind people who responded.I have my first genetics counselling appointment tomorrow in Oxford and am hoping they can help put my mind at rest.
They asked for my brother's death certificate but my parents have said no as they don't want to have copies passed out about the place which I found a bit alarming.
I have been speaking to a friend who works in genetics and she said it could be that when he was born they thought he was male but it wasn't until after he died and they did a postmortom that they found out he was actually female and the CAH was disguising it. Which would explain why they don't want me to see the death certificate. Could this be true? He died at 3 weeks old and the cause of death was recorded as Congential Bilateral Adrenal Hyperplasia.
I've been trying to conceive my first child since 2003 and we have been told due to male infertility that we will need IVF which is why I asked for the gentics test.
My concerns are as follows:
I have always been 5ft 8 and weigh about 11stone with a lovely flat tummy but in 2005 I went to Florida after gaining a little weight and came back with acute panic disorder. I gained about 4 stone in 2 years and became very depressed and anxious. I have lots of red stretch marks on my legs and hips and all my weight is on my tummy.
My cycles have become very irregular and the tops of my thighs have got slightly hairier. And I also suffer from really bad water retention.
I didn't think anything of it until I was researching about my brothers condition and it came up with Cushing's Syndrome. After reading it, it really sounded like me. I was scrolling through all the information and then it said that it can sometimes be mis-diagnosed and could be CAH.
This got me worried obviously because of the family history. Both my parents are carriers and is there a chance I could have late onset??
Sorry to ramble on but am really worried there could actually be something wrong. I don't have PCOS and my ovaries are fine.
