Simon is eight years old and is a wonderful, loving little boy, a dreamer, with great aspirations and ambitious plans for his future!
Although he is a very strong and dedicated learner, who absolutely loves reading, his favorite place is either on the rugby field or his mountain bike. We often go on family rides and he has even competed in a 10k race with his dad.
As for rugby, he dreams of becoming a national player. He lives and breathes rugby. His rugby ball sleeps next to him at night, tucked snugly under his covers…believe it or not.
Simon was diagnosed with a condition called Congenital Adrenal Hyperplasia(CAH). At the age of two, he started showing signs of puberty. After numerous doctor visits, blood tests and scans, we were referred to a Pediatric Endocrinologist, who informed us of his condition.
Although not life-threatening, CAH affects individuals differently, depending on the type and grade of seriousness. In Simon’s case, he has extremely advanced bone maturation which is not responding to standard medical therapy. He is only eight years old and has a bone maturation of a 13 year old.
We have not been able to halt this in spite of optimizing his medication. Given this degree of bone maturation advance, it is likely that Simon will stop growing in the next two to three years (i.e. by age nine or ten) and will be extremely short with a predicated adult height of under 150cm– which is disablingly short.
Simon is currently on medication to the monthly value of R1100($110), which the medical is not willing to cover. He will now require the addition of daily growth hormone to help him achieve an adult height even close to the normal range. The cost of this medication will be an additional R10000pm($1000)– possibly for the next four years.
There are also no organizations to assist us, as this condition is so rare that only one in 15,000 people are affected. This means that out of the 49 million South Africans, there is possibly only 3,200 people that could have Congenital Adrenal Hyperplasia, which is very few!
Facts about CAH (Congenital Adrenal Hyperplasia):
- CAH is a genetic disorder of the adrenal glands that affects the body’s general health, growth, and development.
- The adrenal glands make hormones, which act like chemical messengers to affect other organs in the body.
- Hormones made by the adrenal glands are important for the body’s normal function.
- Cortisol affects energy levels, sugar levels, blood pressure, and the body’s response to illness or injury.
- Aldosterone helps maintain the proper salt level.
- Androgens are male-like hormones needed for normal growth and development in both boys and girls.
- Adrenalin affects blood sugar levels, blood pressure, and the body’s response to physical stress.
What is CAH?
- The adrenal glands help keep the body in balance by making the right amounts of cortisol, aldosterone, and androgens. But in CAH, production of cortisol is blocked. Some children with CAH also lack aldosterone. These imbalances cause the adrenal gland to make too much androgen.
- Too little cortisol may cause tiredness, nausea, and weight loss. During illness or injury, low cortisol levels can lead to low blood pressure and even death.
- Too much androgen causes abnormal physical development in children. Boys and girls with CAH may grow too fast, show early onset of puberty, and stop growing too soon, causing short stature.
- While a boy with CAH is taller than peers at that point, he will have far fewer years remaining to grow, and may go from being a very tall 7-year-old to a 12-year-old who has completed growth.