I’ve written before about Elfie’s health problems, but have never gone into specifics about what is wrong with her. At the time I thought I was doing it to keep a little privacy for us all. But really I think it was because it was too hard. It’s only now that Elfie is 2 and a half years old that I’ve begun to come to terms with her diagnosis and the emotional upheaval we went through when she was diagnosed in October 2010.
Elfie has a rare genetic disorder called 3 beta hydroxysteroid dehydrogenase deficiency. Try saying that after two glasses of wine. Actually, try saying that at all! It’s an incurable disease that can prove fatal if left untreated and will require medication and monitoring for the rest of her life.
It’s a condition that means her adrenal gland does not produce 3 groups of steroids our bodies need to work normally, one of which are hormones. Because of this condition she has what’s called Congenital Adrenal Hyperplasia (CAH). Around 1 in 18,000 children are born with CAH, and less than 0.5% of these have 3BHSD: Elfie’s form of the disorder. There are no clues to how many people have this disorder, at least 60 cases are known, so you could say she’s a very special snowflake.
I can’t really remember what happened when they told us about her diagnosis. I know they said she was days away from a heart attack and we were incredibly lucky to have pushed our GP so hard for a blood test. I remember the feeding tube in her nose and the cannula that ended up in her ankle after 45 minutes of the doctors searching for a vein in her arms. I remember being told some very scary things with the scariest of all being that the consultants didn’t have an exact diagnosis for her for a couple of weeks and even then they didn’t know much about it.
Thankfully her very clever Doctors at Nottingham Children’s Hospital worked incredibly hard to get Elfie well again and they still take a real interest in her treatment to this day. Luckily she does not have to be operated on (a real possibility at the time) and her medications worked as they should.
One of the things I am thankful for is that when we were in hospital for the first time with Elfie her condition was so delicate they put us on an Oncology ward: the worst thing for her at this time would have been to catch an infection with her body so weak and this was the ward with the lowest chance of infection. Being with other children who were so very poorly, some terminal, made Will and I feel so thankful for the hand we had been dealt. Although our worlds had just been turned upside down with the diagnosis of a lifelong disease with no cure we still had our Elfie and we could deal with it.
Elfie started off taking 5 different kinds of medication daily but is now down to two. One of the most dangerous aspects of her illness is the fact it’s ‘Salt-Wasting’: her body loses large amounts of sodium in her urine which is life-threatening and this is why she was so poorly as a baby. Until she was one and a half we had to give her sodium in her milk but now she craves this level of salt herself. She also takes one dose a day of a medication that helps her retain sodium, and three doses a day of a cortisol replacement.
If Elfie becomes ill with a bug we have to act quickly and up her cortisol dose. Her body is not able to kick-start itself to fight off infection or illness and if we don’t give her this cortisol she can become gravely ill in hours. Sometimes she becomes to ill too quickly for oral medication but when this happens we administer an intramuscular injection
We’ve been fairly lucky with Elfie’s health over the last two years. We’ve had a few stays in hospital but nothing we can’t cope with, and as her condition is so rare we were worried it might throw us curveballs at some point but it seems to have stabilised. We even made it to Madrid for my sister-in-law’s wedding, where her very kind nurse friend translated Elfie’s medical notes and procured some spare medication for us in case of an emergency.
What I want to work hard for this year is raising awareness and funds to support families with children diagnosed as having CAH. There really isn’t much information online for this disease and I’d like to do my bit to help change that, and raise some much-needed funds for research. Specifically, I know there is a small chance of an ‘epi-pen’ type emergency injection for adrenal conditions being developed which would take so much worry away from me when I am not around, though to this day I find it hard to leave Elfie with anyone who isn’t a grandparent as they aren’t able to read her early illness signs very well.
I am going to embark on some physical challenges in 2013 to help do this, starting with the Olney Pancake Race on 12th February and Milton Keynes 10k on 10th March. I haven’t done any sort of running since year 11 P.E. lessons so for me, Mrs Completely Unfit, this is a very big deal. I’ve started training and can now run 2 minutes before I have to stop. A couple of weeks ago it was only one minute! Woohooh!
If anyone out there could find a couple of quid to help fund awareness and research I would forever be indebted to you. The money will be going to CLIMB: Children Living with Inherited Metabolic Diseases, a charity I discovered when Elfie was diagnosed. Their CAH online forums were a real source of comfort to me at this time and they work hard to work towards a cure or a treatment that does not impact young lives so much.
You can donate really easily via my JustGiving page, your support is really appreciated.
I’m off for a run. Maybe I’ll manage 2 minutes 10 seconds?
Find out more about our history with Elfie’s condition here.