According to the Great Ormond Street Hospital website, ‘Congenital adrenal hyperplasia is group of inherited conditions that are present at birth (congenital) where the adrenal gland is larger than usual (hyperplasia). In CAH, the body is missing an enzyme (chemical substance) that stimulates the adrenal glands to release the cortisol hormone. Lacking this hormone means that the body is less able to cope with stress, either emotionally or physically, which can be life threatening. It also makes the level of androgen (male hormone) increase, which causes male characteristics to appear early in boys or inappropriately in girls’.
The adrenal gland is a small pyramid shape gland on top of the kidney which releases hormones including adrenaline and cortisol- and cortisol is the part that is mainly affected in CAH. Cortisol is simply known as the ‘stress hormone’. “Oh just don’t get stressed then! You’ll be fine!” I’ve so helpfully been told on occasion. However, cortisol does much more than that. It helps to control blood sugar, blood pressure, blood circulation and also helps the body to deal with stress. Most people think of the word ‘stress’ as involving work, or relationship problems. However, stress can be both emotional and physical. Being sick or having an infection, falling over, breaking a bone… it’s all stress, and all requires cortisol. In a ‘normal’ person, cortisol is produced throughout the day- even at night. In CAH, the body is not able to produce cortisol, and therefore the person must take replacement hormones in the form of steroids. In the UK this is normally Hydrocortisone, Dexamethasone or Prednisone. In more severe forms of the condition, mainly called ‘Salt Wasting CAH’ patients also need to take additional steroids, namely Fludrocortisone, and for young children with the condition, liquid sodium.
“That’s fine then! Just take your tablets!”… nope. In times of more severe physical or emotional stress, such as infection or during exam season, the person needs to take a ‘stress dose’ of their steroids, and this is normally either double or triple the normal dose. This can result in extreme irritability and hunger- trust me! In certain situations, such as vomiting, being unconscious or experiencing a broken bone needs an emergency injection of cortisol. Unfortunately, this is not the relatively simple epi-pen type injection, but involves mixing the powder and solution, attaching a needle and inserting into the top of the thigh, so it’s not as easy as it seems, and makes it much more dangerous as people are often extremely reluctant to give the injection. This is also the case when children start school/nursery, and the teaching/pastoral staff will refuse to deliver the life saving injection. If the person is not given this injection within a short time frame, the situation can become life threatening.
I was diagnosed with CAH at the age of 4 at the Birmingham Children’s Hospital. I saw my endocrine consultant there as an outpatient every 4-6 months or so, and started on a dose of hydrocortisone. Professional opinions have changed a lot in my relatively short life, and so I’ve gone from taking my largest dose in the evening, to taking it in the morning, to taking it 3 times a day to twice a day… and it’s more than likely it will continue to be like that for the rest of my life. Unfortunately due to the lack of research and awareness for CAH, we are still stuck on the same treatments as we would have received 100 years ago- and it’s never going to be right! Whilst Diabetes is also a condition with little awareness, their treatments are constantly developing. For example, they have insulin pumps, blood sugar monitors and epi-pen type injectors. For CAH a cortisol monitor has not been developed, we still have an out of date injection kit that has to be mixed and assembled, and whilst a cortisol pump is being developed, it is not widely used and is not yet available on the NHS.
About 10 years after my initial diagnosis I was suddenly told that I was actually ‘Salt Wasting’ and so was started on fludrocortisone. I also started to feel odd after eating and so my glucose tolerance (blood sugar) was tested, and it turned out that I had ‘impaired glucose tolerance’- common with CAH as well as the Poly-Cystic Ovarian syndrome that I’d been diagnosed with at the age of 12. I was treated for this with 1000mg of Metformin twice a day. Every 12 months my glucose tolerance was tested again, and this also came to light that I was insulin resistant. There are several conditions that are associated with CAH, as mentioned above. Most consultants will refuse to admit that there are side effects with CAH, as if doses are correct, there shouldn’t be any side effects. However, unless we had blood tests done every minute of every day, it would be impossible to know that we are getting the correct dose. Other side effects of steroids include low bone density and osteoporosis, eye problems including glaucoma, increased weight gain and hunger, as well as irritability and depression. What a barrel of laughs aye?
I’ve been unfortunate enough to develop a lot of the side effects mentioned. As you may know, I also have EDS, which is currently being investigated as there is possible link between that and CAH. Unfortunately, it’s all about the luck of the draw. Some people may be lucky, simply take their tablets and ‘get on with it’, but others can be dealt a crappy hand. I’ve recently had my care transitioned from the Birmingham Children’s Hospital to the Queen Elizabeth Hospital, where I’ll continue to have blood taken and see a consultant endocrinologist every 6 months for the rest of my life.
The only reason I’ve written this post is to raise some awareness for CAH. Unfortunately as it’s a very rare condition, people that need to know more about CAH (such as teachers or youth leaders) will google the condition, to which they are often shown the wrong information which can be very scary. I hope that this post has opened the eyes of some people who may have had the wrong impression of CAH, or even educated some who had never heard of CAH in the first place.