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.