CHRISTOPHER’S STORY
Our son Christopher James was born at 31 weeks gestation in 1989. Until he was four he was a poorly child, with very frequent and long bouts of colds and ear infections. Also sickness which seemed to linger for ages and made him, when ill, very lethargic and unresponsive compared to other children.
However, as he was growing very tall, very fast, the health visitor was never unduly concerned about him but praised us for rearing him so well as he caught up from his prematurity so fast.
Measured at age 2, he was already a head taller than his peers and the health visitor then predicted Christopher would reach a height of 6ft4" or taller, which I thought was odd as I am only 5ft4" and my husband 5ft10".
When Christopher was around 3 1/2 I noticed odd changes in him, i.e. bad acne type spots on his face, first pubic hairs and we also noticed behavioural changes you would not normally associate with a pre-school child but with teenagers. Like restlessness, mood swings and most worryingly masturbation. I raised this with the GP who was not worried. We had a referral to a dermatologist who diagnosed acne and this was duly treated.
During the next six months Christopher grew even faster, now about two heads taller than his peers and a very muscular shape compared to his classmates at nursery. I knew something was wrong but again the GP was not willing to refer me to a specialist. However, I refused to leave the surgery one night until I got a referral to the local paediatrician in Swindon-which we did privately to escape the waiting list.
From the first appointment with the paediatrician, events really went very fast. The initial diagnosis of precocious puberty hit us hard, feelings of guilt, "why did we not do anything earlier?" and being told the most obvious reason for precocious puberty was a brain tumour, threw us into turmoil. Several CT scans later and a referral to the John Radcliffe in Oxford, it was found that Christopher had adrenal glands three times as large as they should have been for his age. I will never forget the time we had to attend an Ultrasound scan and whilst being scanned, Christopher asked with real concern in his voice: "Mummy, am I in hospital because I am having a baby?"
The consultant was very good at explaining why he was there in the first place. The endocrine specialists were consulted and after a week of tests in Oxford, Christopher was diagnosed with CAH. Confusion and relief at the same time. "See you in four weeks in outpatients and make sure to follow the emergency instructions if he gets ill in the meantime!".
No-one we knew had heard of this disease, we felt incredibly alone and very guilty for what Christopher must have been feeling. The emotions of puberty are hard to cope with during teenage years, never mind when you are of pre-school age. Coping with a physical stature very different from your peers.
Having to come to terms with the fact that with a bone age of 14 3/4 years at 4 years of age, the tall child would grow into a small adult, on medication for the rest of his life, understandably, the first months were quite difficult. However, over the past years Christopher, now 10 years old, has done very well. His peers are catching up in height, he is doing exactly the same things as any child of his age would do and he is very popular at school. He is very good at taking his tablets and well aware that if he gets ill his medication needs change.
Last year, due to the advancement of puberty he was started on Prostap injections. This is done in three weekly intervals with a depot injection and we do this at home now. He copes very well with the side effects like bad headaches. His bone age has remained stable and apart from a weight problem (which affects more or less most cases of CAH) we live a normal family life. Vacations abroad, sleepovers and sport. We don't relate day to day problems to CAH and never let it be an excuse. However, we of course, take all the right precautions, attend the frequent hospital check ups and take medication regularly.
The support of the CAH group and the flow of information especially during the CAH conferences has been invaluable to us.
I think there is still a lot of information to get out to the healthcare professionals, especially raising awareness with health visitors etc. that unusual growth in pre-school children should be a concern and investigated as much as lack of growth.
Christopher's Mum
December 1999