Melissa's Story

Problems at birth

I was a small baby and almost died before I was diagnosed. I lost weight rapidly, as I was dehydrated and constantly sick, and had to be put in large doll clothes - it was the late 1960s, before premature baby clothes! At birth it was difficult to tell if I was male or female. It took three weeks to discover what was wrong and confirm that I was a girl using blood tests and x-rays.

CAH

My parents were told I had the salt-losing type of Congenital Adrenal Hyperplasia (CAH), a rare genetic life-threatening condition that affects the adrenal glands and requires lifelong treatment. CAH is easier to identify in girls as the external genitalia can look ambiguous, though inside everything is female. This may be corrected surgically. Boys are more difficult to diagnose quickly and died in the past.

The treatment

The importance of not forgetting or refusing the steroid tablets I needed to stay alive was drummed into me throughout childhood. I feel ill if I missed taking them so I never stopped, but treatment is a constant balancing act. Taking too much reduces childhood growth, increases your weight and suppresses the immune system. I was quite sickly as a child, forever in and out of hospital. My family thought I wouldn't survive. If you take too little treatment, you grow tall too quickly and your bones fuse early reducing final height. At 5' 1½", my height is reasonable, but I've always had weight problems. More importantly, too little treatment increases the risk of a life-threatening "Adrenal Crisis". It also gives rise to excess androgens, the hormones which cause virilisation, hirsutisum (excess hair), deepening voice, aggression plus early puberty in some cases.

My childhood

My childhood was full of blood tests, bone scans for growth and other tests. Aged four, I had my first operation. It was quite scary having to stay in hospital not knowing what was happening. This was when I started to realise CAH was serious. I had more surgery aged 12 and 14. Doctors said I couldn't have children as CAH reduced fertility, then they brushed it under the carpet.

Later years

I grew up thinking that having a family was impossible and put marriage to the back of my mind. At the time I wasn't too interested and shut off, getting on with school and then throwing myself into my career. Years later I found out that although fertility is considerably reduced in salt-losing CAH, it is possible especially with new fertility treatments. Though maintaining the correct balance of hormones during pregnancy is more difficult.

Hobbies and career

My hobbies have always been more 'male' than 'female' in this stereotypical world. I particularly enjoy model-making, DIY, driving and car maintenance. However, I also really enjoy cooking, music, swimming, crafts and tapestry. Research shows that women with CAH prefer male hobbies and sometimes professions. It also shows they have good spatial abilities, maths and interest in sport. Although I have excellent spatial abilities, I can't abide sport and I'm hopeless at maths!

I worked in engineering/electronics industry for 14 years, a difficult path for a woman. I worked my way up from assembly work to quality engineer, but found it impossible to progress in such a male-dominated area and with a rare medical condition. Two years ago, I changed career to work with computer databases in university medical research. Employers always imply that my condition/need for medication mean I won't perform. CAH and high stress don't mix, but I am relatively healthy - and have to work that much harder to prove my worth!

Friends

My friendships have been predominantly male since they seem on the same 'wavelength' given my hobbies and career. But men see me more as 'one of their mates' or an amusement because I have similar interests. This is extremely annoying when looking for a boyfriend - men complain that women are not interested in their hobbies, but when one is they consider it strange! Women can't understand why I'm interested in so-called male pursuits.

Throughout my life I asked questions about CAH, but found difficulty getting answers. My parents didn't know much and doctors said take the tablets, have the surgery and everything will be fine! Not knowing exactly why you are taking tablets or having surgery is extremely difficult to cope with. Later, reasons for my tablets were given, but I still couldn't get answers about my surgery and fertility because some of my medical records had been destroyed.

Support

At 18, I found a support group for rare metabolic conditions, RTMDC (now CLIMB*), and was sent some information. This came as quite a shock and this was when CAH issues really began to sink in. It took me three years to get my head around this and start really looking for answers. I joined the committee of CAH group of the RTMDC from its inception in 1991. Meeting others with CAH for the first time helped as I had felt so isolated. However, only recently did a specialist give me all the missing pieces of my jigsaw. She said that many of my problems were from years of over-treatment. It was a great relief to understand this, but I also felt great sadness about my long search. If I'd known this from my teens, I could have got on with life.

My future

The future? Hopefully to marry, providing I find someone who accepts my none-to-feminine hobbies and interests. Possibly to have children, if my fertility isn't too reduced though my career is important too. To get on with life and travel. To promote CAH research, education and support via AHN, as coping with CAH is very difficult without "Answers / Knowledge". It is so much easier to live with a condition such as this with all the pieces of the jigsaw!

Organisation Intersex International