The difficult part of having Salt Wasting Congenital Adrenal Hyperplasia is working out your steroid dosage. Generally young people and adults with this condition (or similar problems with adrenal insufficency) have their doses figured out around age 15/16 and that’s the way it stays! Me however? Nope! Unusually, I’m actually requiring a higher dose than I did when I was younger, and around 3 years ago I was discovered to be a salt waster instead of a ‘normal’ CAHer, so I had another steroid added to my medication list. Over the past couple of years (with me being diagnosed with lots of other conditions) I’ve needed higher doses as well a doses that are split more throughout the day.
The difficulty I have with my dosing currently is that I haven’t had any cortisol testing for around 8 months, so my levels could need altering- but I wouldn’t know! So I’ve taken it upon myself to try and listen to my crappy body, and recognise the signs that I need more hydrocortisone. At the moment, I’m trying to spread my dosing throughout the day, as I find that I’m going too long without a dose. Unfortunately, this is the problem with adrenal conditions, particularly CAH, everything’s experimental.
So what’s cortisol I hear you ask? Cortisol is essentially a stress hormone. ‘Oh everyone gets stressed! It can’t be serious!’ (you’d be surprised how many times I’ve heard this!). No. Everybody NEEDS cortisol to SURVIVE. You wake up in the morning? You need cortisol. You’re eating? Cortisol. Walking? Cortisol. Sleeping? You guessed it- cortisol. A ‘normal’ person has what’s called a circadian rhythm which regulates cortisol levels, and this rhythm knows when to give you more or less cortisol. For example, if you’re emotionally stressed, you’ve bumped your head, you’ve tripped over- your body will know to give you more cortisol. In CAH, our circadian rhythms don’t work. The only treatment we have is to take hydrocortisone at a set dose by our endocrinologists. Everyone knows (including our doctors) that every day is different, and therefore we may have needed more or less throughout the day, but there’s nothing that we can do for this. If we encounter ‘major stress’ such as not being able to keep down our oral hydrocortisone, have collapsed or have major surgery, we need an injection of ‘cortef’ which is a fast acting cortisol which without, we’d probably not survive.
There’s currently pioneering treatment in developing cortisol pumps, which looks like it could be a brilliant option for those with adrenal insufficiency. However, this is not readily available in the UK yet, apparently there’s only a couple of people in the UK who have one, and similarly, it’s relatively unheard of worldwide. It works by developing your own circadian rhythm, so that the pump knows whether you need more or less. I’ve discussed this with my doctors as a possibility, but as it’s still a ‘pioneering’ treatment, they’re currently refusing it as a treatment option. I can only hope that as I get older, and that if my children are born with CAH, that these treatments will be developed further and they will be more widely available.
I may be taking part in a clinical trial later in the year to test a new ‘long acting’ hydrocortisone, meaning for those of us who take multiple doses throughout the day, we may be able to only take it twice- which I’m sure you’ll agree is a lot easier to remember! This may not be suitable for everyone though, so I’m currently keeping my fingers crossed that it may work for me. CAH is scary. There’s no way to beat around the bush. It’s TERRIFYING. The thought that one day you could wake up alone and be so physically unwell that you can’t move to take your life saving medicine, or even to reach the phone to phone an ambulance- you could die. That’s why it’s SO important that those of us with CAH learn to know our bodies, and know when something’s not quite right.