I’ve been wanting to write about Elfie’s condition for a little while, to record what it’s like to live with a little one who has different needs to normal babies.
Elfie was born with a very very rare genetic condition. She is about one in a very small number of people in the whole world who suffer with this: it’s so rare that there isn’t much research to go on so Googling (my usual saviour) didn’t help when she was diagnosed. They have done some research in Frankfurt which is where our Endocrine team at the hospital have been getting information from for us, but no-where in the UK. I also understand there is excellent research happening at pediatric urgent care in houston. It’s a fairly newly discovered disease so the oldest person alive with it is in their fifties.
Her condition is part of a wider ‘family’ of illness that affects the adrenal gland and the way our bodies process salt. Her body lacks the function we have to produce a type of stress hormone called cortisol when we are in physically stressful situations; so when she is poorly with a cold or sickness her body is unable to repair itself and she can fall gravely ill in a short space of time.
Elfie was about 14 weeks old when her condition was diagnosed. We’d struggled with her having an apathy towards feeding whole little life; one small feed of 80ml would take over an hour and then she would quickly be sick. Breastfeeding was impossible and nobody would help us: it was our determination to get as much milk into her as possible that kept her alive and finally our perseverance at the doctor’s surgery that got her seen for a potential nutritional disorder. I still have alot of anger towards all the health professionals who fobbed us off during this period and it has changed the way I deal with Doctors. When we were initially admitted into hospital hours after her first blood test (the phone call you never want to get: “don’t panic… but you need to bring her back to hospital. NOW”) she was badly dehydrated with extremely dangerous levels of sodium and potassium. We were told that so many babies with similar conditions aren’t as lucky, she was days away from a heart attack that would have been attributed to cot death.
Day-to-Day we manage to keep Elfie very healthy. Her body can’t retain salt so she is on a medication to help with this, as well as Sodium Chloride which we put in her milk and food, four times a day (people are horrified when they hear we are actively feeding our baby salt!). She also takes a Cortisol substitute three times a day and a low dose of antibiotic once a day (we hope she’ll come off this soon). She hits problems when she is ill and her Cortisol doses need to be trebled, and worse when she has either sickness or diarrhoea, when she must go into hospital to have her drugs via an IV. We’re on our toes a lot with regards to her health, constantly taking her temperature, monitoring how much she is sleeping (an illness indicator) and her blood sugar.
Everyday, normal tasks become that little bit harder. Want to go away for the weekend? We need to make sure we have the details of the local hospital and where we can find pediatric urgent care in houston, or wherever it is we are off to, and all Elfie’s medical notes with us as well as the various medical paraphernalia. Nipping out to lunch? I need to find a way to keep Elfie’s medicines at the right temperature and take her emergency injections with us. I could never go back to work full-time and leave her in a nursery and I am quite wary of taking her to playgroups with other children who are poorly (a sick child at the NCT group once bought us an overnight stay in hospital).
Babysitting is a challenge. She has never stayed overnight with anyone other than me, Will or my mother. Essentially, if she’s ill and doesn’t have the required amount of cortisol she could dip into adrenal shock which leads to a coma, and death. It’s not fair to expect your usual 16 year old babysitter to deal with this sort of pressure, and I don’t feel comfortable in leaving her. My mum, Will and I are the only people to know her little ways well enough to get her to hospital as quickly as she needs.
Aside from her genetic condition she is the most delightful little girl. She is so happy and content – just like a normal one-year old, though a little bit behind physically. I am very very protective of her and hate her spending time with people outside our immediate family if I’m not there, and I worry how this will manifest itself when she’s at school and I must trust others to look after her. I don’t like her going in cars without me in case there’s an accident and she requires emergency treatment and I’m not there to give her medical background; the same with her staying overnight without us and away from our local hospital, where all her notes and treatment information is. I won’t be taking her abroad unless we’re with a native language speaker who can explain her situation to a Doctor and trips to our lovely Greek island are out for the time being – it’s a long boat ride to the nearest basic hospital and the thought of her being ill while we’re there makes my blood run cold.
I don’t like to call her a special needs baby because She isn’t: she’s just different. We are eligible for an amount of disability living allowance as I would find it hard to work full time (even freelancing in-house at IKEA was difficult, I was forever rushing off to take Elfie to hospital, or staying at home with her as she had a temperature). But that’s OK, I like working at home, and this way I am only ever four minutes away from her.
It’s very easy to get overwhelmed with the idea of a lifetime of difference for her, and I wonder how we will best broach the question of her health when she’s older. But I wouldn’t have her any other way. She may be different, she may struggle, but she will always be so loved and helped. I’m not a religious person but I do believe things happen for a reason, and I know she is with Will and I because we love her so much. She is a special one in a million little snowflake and not just because of her health, but because she is an amazing little girl.
Cried while reading this… she’s a lucky lil one to have such amazing parents.
Thanks Jamie xx
Had no idea about this, what an amazing mum you are! She is beautiful and very lucky to have you both. I hope it gets easier for you as she gets older. Gorgeous little thing, she really is.
xx
Thank you! And I completely agree, though I may be slightly biased. x
Thanks for writing this, Alice. Elfie is gorgeous and very lucky to have you. I’m wondering – for when she’s a bit older – if she could have a kind of medical bracelet that had actual information on? Like the ‘I’m epileptic. I’m diabetic. etc.’ bracelets you get but that could have her medical history on it. Surely someone has invented something like that? A USB bracelet? For when she is at school or wanting to go round and play at a friend’s house and that would give her the ability to do so without you needing to be there all the time.
(Sorry, it just kind of came to me and might well be something you’ve thought of already.)
Hi Tasha! We’ve been given some leaflets on those sorts of bracelets, I think she’s a bit tiny now but as soon as she starts spending more time away from us I’m definitely getting one (they have some quite cute kiddy ones these days, I remember a diabetic friend at school having to wear a really large, ugly necklace. They now come in pink!
Hope to see you on 28th?
Hello Alice, I found your blog very recently and have read it with interest but today’s post has made me very tearful. You and Will have a lot of pressure on you to get things right for Elfie and I love the way you appear to manage it without seeming to use a lot of effort. Elfie is a gorgeous little girl and her personality comes over the page very easily. I wish you all extra good health.
Me too, it’s been very cathartic to write this all down and I feel like I’ve run an emotional marathon! In this sort of situation there is never the time or space to sit down and process everything so I suppose writing about it here in my blog has become a kind of therapy.
Thank you for your lovely words.
Thank you for sharing this with us. She is the prettiest little thing, isn’t she? Good on you for being such a good and caring mother. She’s alive because of you, and that’s amazing. Good job.
Thank you so much Margarita. And good to see you here!
She is gorgeous. You’ve done an amazing job. *virtual hugs*
Thank you!
This is just amazing and you are a remarkable person. I’ve read your blog for a while but never left a comment but I just wanted to say that Elfie is a total cutie and I wish your family all the health and happiness in the world.
Thanks Emma :)
I’ve always admired the way you have coped with the curve ball that Elfie’s condition was. You will find the mechanisms, you will find the out of the ordinary babysitter, you will because you have come this far and will keep going. As for travelling in different cars – have you thought of putting an emergency medical card on her seat? All the crucial information and contacts just in case.
We hadn’t thought of that, what a great idea! We’ll definitely be doing this, thanks Kat.
Oh this has got me in tears, Elfie has the most wonderful mother and I’m so pleased I’ve finally got to meet you. You are doing a wonderful job. I’m exactly the same with Oli and it’s just recently that I’ve got a 2 day job where I leave him. And have just this week handed him over to a 16year old babysitter so I can do some overtime at work!
You too – it was fab to meet you! I am in awe of you at the moment going back to work, I find it very hard to hand over E for 2 days to my mum and even then she’s only 2 miles away and I get photo updates :) It’s sooo tough!!! x
She’s beautiful and so is your attitude.
Thank you Jess, that’s a really nice comment.
You are all doing so brilliantly – I can’t imagine how hard it is, not least the trust issue, we have a teeny tiny similarity with Littler’s dairy allergy and her possible reaction to it
We’ve discovered that there are those that get it and those that don’t – sadly those that don’t are people we spend a whole lot less time with them these days
You hit the nail on the head – there are those that get it and those that don’t. x
What an absolutely adorable little girl. I can only imagine how this has changed your life. She’s lucky to have you as her mother, and I am sure you feel lucky too.
Thank you so much :)
How heartbreaking it must be to see your beautiful little girl having to cope with everything that has been thrown at her so far. But, your story is truly awe inspiring and it’s incredible how you and your husband deal with it all and try not to let it get in the way of enjoying all the good stuff with little Elfie. She is incredibly gorgeous and the happiest, cutest little thing and that’s clearly because she has such loving parents/family who cherish her and take the very best care of her every single day. Well done all of you. xxx
Thank you! Looking after her is not hard, she makes it easy xx
Wow. I knew she’d had serious problems, but the part about her being days away from a heart attack really brought home to me just how much you’ve been through with your little girl. I’m so glad she’s doing well now. She is utterly gorgeous and you’re all so lucky to have each other. Please keep posting pics and updates because I think we all love reading about her :)
I will, thanks Celeste xx
Oh Alice. This made me cry. She’s so so gorgeous and I don’t think I realised quite how rare her illness is. You and Will are amazing x
Thank you for sharing this. Well done you for persisting, a mother’s instinct is rarely wrong. Elfie is gorgeous and a credit to you x
What really shines in this post is how much you care for your daughter, (and how cute she is!) which is not to say that I can see how challenging it would be for you to do any of the things that I take for granted with my girls.
She is such a gorgeous special girl and she is very lucky to have found great parents able to give her so much care and love xx
You have a beautiful daughter – and she has such a beautiful mummy too. A really touching post, thank you for sharing x
Mrs Harold you truly are a fantastic woman and a inspiration. So proud to know you. All my love xxx
What an inspiring post. I follow a blog of another expat who lives in Hong Kong and she is going through a somewhat similar situation with her son. He has been diagnosed with a very rare disorder concerning his sight. I left your blog link with her and here is hers: http://typhoonsandtantrums.blogspot.com/
Thanks Katharine, that’s really kind of you! I will check out her (and your!) blog.
Aw just found your blog Alice! I had no idea it was so hard for you and Will – big hugs to the three of you – and you’re doing a fantastic job! Love Danielle xx
You´re a lovely family and I like your blog so much. You make me learn english in a more interesting way. Thank you for our blog andyour inspiration.
Kisses
What a blessing to have such an adorable daughter. She’s beautiful!
Your daughter is absolutely beautiful,and with parents like you,I imagine she will always be happy an able to cope with her illness. I don’t have children,but found this post really touching. My best wishes to you all for the future x
Hi Alice,
I follow you on WIWT and have loved watching you baby bump grow and admiring you fashion sence!
I am amazed to read your blog! So much hidden behind a beautiful smile!
I have had (in comparison to you) some small hitches in having our second child and to be honest after reading your blog I realise I need to “grow a pair” and get on with it! So thank you!
I will be following you intently!
Stephanie
Hi Alice,
I have been reading your blog for sometime and reading this proved that amazing people still exist in the world. She is an amazing little girl and you are clearly an amazing mother. I dont think she could ask for better parents, well done to yourself and will
x
Can i just say that you are a remarkable young women. Things do happen for a perfectly good reason and the path of life does eventually lead somewhere. I am not religious either but believe that there is path set out for us. We can deviate a little here and there but eventually the destination is reached. I am amazed at the attitude with which you have taken this into your stride. You have not thought of it as a problem, as a hindrance, but perhaps as a blessing. I am truly amazed. Women like you are inspiration for all of us who think that our world is about to end because we cannot make it to office in time in the morning. Keep it up and do keep us posted on the baby’s health.
Hi Alice,
i loved reading about Elfie, you write so honestly and beautifully. I agree with you about the “special needs” comment and just recently had an epiphany about my son, Marc, now 9, who has autism. Every child had special needs, some show up early in life, some show up later. As an elementary teacher I see special needs every day and wonder about the “special needs” some of my beautiful students will develop in the years to come, if not nurtured and watched now because those needs have not surfaced yet. My epiphany, isn’t it possible that the differences our children possess just might be the very thing that ultimately protects them from other problems they could face later in life? Our vigilance, and the closeness our families have developed out of love as much as necessity, may be just what protects Marc and Elfie from other conflicts that can come about as our children grow and have to make smart decisions for themselves. My son’s diagnosis has made me very protective, our family very close, and traveling and babysitting, ugh. I know just what you mean when you speak about the future, those questions mothers have which do not have answers, it can be so much, too much, to think about. You and your family will continue to inspire strangers like myself, your children posses a spark in their eyes that reminds us home and family is what is most important. Now there’s a legacy to be proud of!
Barbara
Thank you so much for your lovely comment Barbara, and for sharing your experiences. It made me tear up and cry at the same time, and it is people leaving me messages such as this that keeps me motivated to keep writing xx
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Thanks for sharing! My daughter also has SWCAH and it’s true that we have to be a little more organized. But up to know we’ve been lucky, even with a gastro, we were able to manage the sickness without going to the hospital by doubling or tripling the medication. Up to know, her life isn’t different from other kids and I hope it will be the same for your daughter! Wish you and your family the best! catherine
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