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.
Wow- you have really been through the mill! Elphie is a beautiful little girl with a wonderful family around her… Please make sure you take time to look after you too, you have a long road ahead of you and your family need you well to take care of them. Good luck with the training and I’m really looking forward to hearing your progress :-). Fantastic blog by the way!
I’m sure there will be parents out there who’ll be so much better informed after this post. Although my own daughter’s condition isn’t even remotely as serious as Elfie’s, I found the lack of info at diagnosis really frustrating, which is why I write a fair bit about hypermobility syndrome now, as if it helps just one parent get some more answers then it’s worth it. Elfie’s such a beautiful little girl, I bet you’re very proud of her. x
Hi Alice, I love reading your blog and particularly enjoy your honesty. There are times where I actually feel like you are speaking what I am feeling! I hope you don’t mind me sending you this, but given how upfront and honest you have been about Elfie and her condition, I thought you might be interested to hear about the work some good friends of mine are doing to raise awareness of rare diseases, in their case, Tay Sachs. Their gorgeous little girl Amelie was diagnosed 2 years ago with this very rare and also terminal condition (most children with TS don’t live beyond the age of 4). Instead of wallowing in grief (which i would probably do) they set out to make Amelie’s life as fulfilling as possible, and at the same time help other children and families with TS. They set up the CATS Foundation (find out more at http://www.cats-foundation.org) to raise awareness of TS and to raise funds for research, breaks away for the families involved, equipment, sensory toys etc etc. So whilst looking after their own daughter, they are busily helping others! They also write a blog http://www.todaywasnotabouttaysachs.com. They are also trying to promote rare disease day with the use of this short video: http://vimeo.com/58575767 I don’t know if you’re aware about this day, but thought given Elfie’s condition you would want to know about it!
Anyway, thanks for looking, and anything you could do to help raise awareness of the CATS Foundation and the work they are doing would be great.
Thank you xx
PS – Elfie and Hux are both just adorable…they look like very happy little things! xx
Your little girl is gorgeous!! I’ve never heard I this before but this post does so much in itself raising awareness and educating people. Best of luck in all your ventures this year to raise more awareness xx
Having a reason you really care about is a great incentive to get out there and run. And I hope it will bring you some head space too. I’m sure you’ll rise to the challenge with a smile and good humour, just like you deal with your gorgeous children. Keep adding the minutes little by little and you’ll get there. Good luck!
I remember chatting to you (well twitter etc) after E’s diagnosis and saying that living with a child with a condition (whether it be life limiting or life changing is a challenge) but that you are the best advocate possible for E and look what a fab mum you are
What a very special snowflake indeed – it’s amazing how well you all cope with Elfie’s illness and I love that you are determined that it shouldn’t define her but is something you learn to deal with and then get on with living your lives, bravo. And good luck with all your running ventures – brilliant plan, I’m off to sponsor you :-)
Xx
Well done for doing this Alice! I’ve posted about it and hope that you can raise even more money!! http://kaisalarkas.com/index.php/2013/02/07/flip-it-for-charity/
She is such an adorable little sausage. I love the picture of her in the bath, with her retro looking hairstyle. She certainly is a very special snowflake.
Good luck with the fundraising Alice. Our 19 month old daughter also has CAH so it was with great interest and empathy that I read your post. My husband is doing a series of triathlons this year in order to try and raise some funds for the research into improved treatment of CAH. Hopefully see you at one of the support groups in London. We will be attending the next one in April.
I admire your honesty and bravery at writing about something which must cause you so much worry. Elfie is beautiful – best of luck with the fundraising x
Thank you for sharing you & your family’s struggles. I noticed here and there that you’ve mentioned about your daughter’s condition, it is very unique and I hope you continue to receive the support it sounds that you are getting. Good luck with your running. Elfie is adorable and I love the phrase “special snowflake”.
Hi Alice. I am so happy to have found your blog! I have been in search of support forums and discussion boards for days now as my daughter has just been diagnosed with Salt Wasting CAH. She is only 12 days old and thank god for early screening because they were able to act fast and put her on meds before anything fatal could have happened! I am still in shock, completely overwhelmed and find myself crying almost every hour of every day. I am scared and worried of becoming depressed as I know I need to be strong for her and need to try and be happy as she is a newborn and can feel all my emotions too. Your story of your beautiful daughter has helped somewhat and given me a little bit of comfort knowing that my daughter does have the chance at living a normal life. I would love to get in contact with you if possible just to share and hear more about Elfie. I have so any questions that run through my head everyday but feel so alone. I love in Auckland, NZ and have 2 boys aged 7 & 2 and now my little princess whom I have longed for for so long only to find out that my little angel has this rare illness and is life threatening had turned my world upside down!
Hope we can be in contact.
Love and prayers,
Stacie
Hello Stacie – congratulations on the birth of your daughter. Our daughter was diagnosed with CAH when she was a few days old so I completely understand your shock, confusion and despair. I remember it well. This was not how the birth of my first child was supposed to be! My daughter is now 2 years old – strong, happy and healthy. Yes, she is on medication all the time and yes the common stomach bug can mean 2 days in hospital, but on the whole she has a very happy and incredibly normal life. We are lucky that we can attend parents’ support meeting every 6 months in London. To meet other families showing me photos of their 15 year old girl playing rugby or 25 year old son joining the police – it’s so encouraging.
Those first few weeks were so tough but we got through it and now it’s part of who she is. I don’t think it in any way defines her.
One of the hardest things for us was the lack of information and often confusing pieces of advice. The internet can be a scary place. I would really recommend you read the resources pages of our support group:
http://www.cahisus.co.uk/
and the general page for GOSH:
http://www.gosh.nhs.uk/medical-conditions/clinical-specialties/endocrinology-information-for-parents-and-visitors/conditions-we-treat/congenital-adrenal-hyperplasia/
I hope you find them useful in the future if not at the moment. There is also a Facebook group.
Please know that you are not alone – there are many of us out there who understand exactly what you are going through.
Wishing you all the very best.
Linda
Hi Linda & Alice,
Thank you so much for replying and for sharing your experiences that you have had so far. Each day brings more positive feelings and I am slowly starting to accept it and to realise that this may be a condition that she will have to live with but she will surely thrive and live an absolute normal life. I am enjoying her so much and she is doing so well and is absolutely perfect! I am learning to take each day as it comes! It would be wonderful to stay in contact and to learn of your experiences and hear about how your beautiful girls are doing too. Yes your right Linda, the Internet can be so daunting and as our specialist has advised, it is not the best place to be looking in and the majority of information and stories we will find will not relate to our daughter at all as each child will develop and grow in different ways.
Thank you for the support and words of encouragement it really does help!
Hope to be in touch :)
Stacie xx
Hi Stacie – I am so pleased to hear that you are feeling more positive. Taking each day as it comes is absolutely the best thing you can do. Please do get in touch – would be great to hear how you getting on – my email is lmacdonald23@hotmail.com. Happy to to talk through anything that might be useful. I know that talking to other parents in the early days was so valuable for us.
Take care xx
Hi Stacie,
I’m really glad you found me! I know from experience the tough time you must be going through and how little there is online to support people with CAH. Please do contact me and I’d be happy to help as much as I can – alice@aliceharold.co.uk. You really aren’t alone in this, the others in your situation may be on the other end of the internet but there are lots of people happy to give you as much love and support as possible. And if you haven’t already do take a look at the CAH support group, it’s really helpful… http://www.livingwithcah.com/
Alice xx
Hello, I am so glad I came across this blog, my daughter has CAH and I am doing my best at researching and helping her through evertything, I know what it is like to rush to the hospital and I have to triple her dosage when she is ill with even a slight cold, it becomes something major. I would really like to know how your daughter is now if you have any tips! I sometimes feel alone and like I have no one to talk to about her condition, as a mother you cant help but worry that you arent doing all you can. When she was a new born I remeber how hard it was to see them try and poke her veins multiple of times because they couldnt find any since she was still so small. I am so glad to hear that your daughter did not have to get any surgeries done, my daughter has had two surgeries and is currently 3 years old. I know there is nothing to prepare us for the future and what can happen with this condition and it would be great to unite and speak up for our daughters so as they grow they can know they are not alone, I loved how you phrased that they are special snowflakes because they truly are special. I know this blog is not current but I am so glad I came upon it today, it made me feel like I am not alone and it helps to know that my daughter is not alone either, that there are others out there who she can maybe one day talk with and answer questions among each other.
Hello, our daughter was born a month ago at Guildford in Surrey, and has diagnosed with CAH, like your daughter she is a salt waster also. Even though you wrote it a while ago I just wanted to thank you for your blog. My wife and I are just as scared as you were about this Illness, but it gives us hope as you clearly have a beautiful daughter and it has helped make my wife, who is really struggling to come
to terms with everything know that she will grow up ok. It is hard to find information about this condition. But if you are part of any groups or charities that I can help with then please do let me know.
Hi Matt,
I’m really glad you found me – it is a very scary time but I hope I’ve shown you life really doesn’t have to be difficult with CAH. Are you under GOSH? There’s a great support group called CAH is us (search for them on Facebook) ran by Prof Hindmarsh there. Through the group we’ve met some older girls who gave me great confidence that children with this condition can grow up to live very full and normal lives :)
Hi Alice,
Thank you for responding, we are currently being looked after by St George’s Hospital and Epsom hospital. I will look at the group you mentioned and show it to my wife. As you said it has been scary, but I think part of that has been because we had never heard of this condition before. But as I learn more I am coming to realise it is very manageable. My wife (Emma) and I was wondering if you would be happy to meet up over a coffee. It would be wonderful to hear your thoughts and advice on how you have managed Elfies CAH and what we might expect in the future.
Thank you again Alice
Kindest Regards
Matt