Oodellally Golly What A Day

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Isn’t it typical that two days after pouring my heart out about Elfie’s disorder she becomes ill?

Will and Hux have both been afflicted with man flu this past week and after thinking Elfie and I had escaped it, she fell ill this morning. She woke me up crying at 6am and was lying on her bedroom floor. I scooped her up – poor thing was all rolling eyes and floppy limbs – and deposited her on Will’s side of the bed. This always happens when he’s working away! Going into emergency mode I got a double dose of her usual medication into her to kick-start things and then a couple of large mouthfuls of Glucogel which is packed full of Glucose to get her blood sugar up quickly.

The whimpering had woken up Hux so we all de-camped to the sofa and had some morning milk. Hux is still refusing solids thanks to the man flu and Elf halfheartedly nibbled on a banana. When I realised nobody wanted to be awake I took them both back upstairs, Hux to his bed and Elfie and I to mine. She insisted on  sleeping all cuddled up which meant I a) got a bit sweaty and b) had her toes in my mouth on more than one occasion.

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As she hadn’t improved by lunch time and had developed a weird obsession with drinking ALL THE WATER (literally almost 2 pints this morning) I called the doctor who was out within the hour. Blood sugars were fine (no diabetes) but if the thirst doesn’t abate in the next couple of days we’ll be off to the hospital to do in-depth blood tests. I’m awaiting a phone call from her Consultant at Nottingham’s Children Hospital to rule out anything sinister relating to her meds or condition.

Meanwhile I’ve aged about five years and am going to have to pay extra careful attention to my forehead frown lines this evening. Luckily I have a relaxing eyebrow and bikini line waxing appointment to get me out the house tomorrow. That’s how hard today has been: I’m looking forward to my bikini hair being forcibly removed. Ahh blissful, honest.

As much as I have loved the day-long cuddle I’ve had with Elfie (though BOY, is baby illness with two children in a whole different league to when you’re dealing with one) this has really reinforced to me why I want to work hard to raise awareness of CAH. Even the GP arrived today with a ream of paper detailing what to do with Elfie in a crisis that came from her consultant, there is so little that even Doctors know about the condition.

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Thank you from the absolute bottom of my heart to everyone who has donated to our cause so far. It has touched me so much that people have been compelled enough by my little girl to put their hands in their pockets.  So much that CLIMB have got in touch with me to discuss fundraising – I’m reaching the big time, baby! – and I’m happy to report that I’ll be working with the Living With CAH support group in their quest for a cortisol epi pen.

This evening Elfie was requesting ham sandwiches and a bath so she is well on the mend, thank goodness. Tomorrow is a new day with my lovely children and I hope we’ll be in better shape for exploring the world. And getting waxed.

I didn’t want to let this week go past without mention of someone in our blogging community: Jennie at Edspire. I met Jennie at BritMums last year in the feeding room, she was there with her Matilda Mae and I was feeding Hux, who was two weeks younger than her beautiful little girl. Matilda Mae passed away suddenly on Sunday night, with no explanation or reason. Jennie and her family are quite rightly devastated. I have been taking time every day to reflect and think about Jennie and Matilda Mae, and am sending her nothing but love at this time that none of us can comprehend. I hope Jennie is finding a small bit of solace at the blogging community who are full of compassion and support for her at this awful time. 

 

CAH and Elfie: What It Is, How It Affects Us and Why It’s Making Me Run

 

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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.

 

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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.

 

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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.

 

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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

Illness, Baby Cuddles and Britney.


Whenever Elfie is ill I get the overwhelming feeling of “it’s not fair”. When she had a bug as a baby it was all whinging, taking blood sugars, constantly checking temperatures and days in hospital. Thankfully now she’s older, stronger and we know her condition inside-out we no longer need to do the dash to casualty but there are other reasons why a poorly Elfie pulls on the heart strings.

She can speak, for one, and when she’s ill she talks in the most pitiful way. I challenge any one of you to not melt when she’s reclining on the sofa saying “mummy, poorly. Cuddle?”. It’s delightfully heartwrenching.

Luckily my mum was able to take Hux for the day yesterday, and as horrible as a night of vomiting interspersed with fitful sleeping with Elfie in the spare bed was (she made me sing The Wheels On The Bus for HOURS), we spent the whole day cuddling on the sofa with Peppa Pig and it was a really lovely time.

She let me take her into the bath and wash the sick out of her hair (nice) and then we dried off in front of the fire and sang yet more Wheels On The Bus. She fell asleep snuggled on my chest and I managed to reach the remote and flick to catch up on the X Factor USA. An hour of blissful cuddles and Britney Spears (is it just me or does she still seem slightly unhinged?).


Elfie’s feeling a lot better today – though still napping lots and Peppa on loop – and I’m looking forward to her being back to her normal happy self. Saying that I have enjoyed this time with her, I think because seeing your babies grow up is so bittersweet. They’re quickly growing into such independent little things and being needed for ‘baby cuddles’ once more feels very special.

Elfie at 19 Months

It’s weird, looking at Elfie now you don’t see a baby anymore. You see a toddler, a mini-person. Especially when she’s dressed in the next size up of 18 months-2 years clothes which seem seem so much more geared towards making toddlers look like children rather than babies. Thank goodness for onesies which I will be keeping her in forever – she’s always my baby in her onesie.

Elfie is growing so fast and can now walk if you hold her hand, last week she even took a few steps on her own which made me come over massively Proud Mummy-like. The pace at which she’s developing is insane, she didn’t want to walk two weeks ago and can still go a whole day without walking unaided – she’s in no rush to become mobile which is absolutely fine by me.

We’ve experienced plenty of health scares recently which have been terrifying but at the same time have taught us more abut how to deal with Elfie when she goes in to an adrenal crisis, which is when she starts becoming ill. Normally when we come down with a virus or an infection our bodies have a mechanism to kick-start the healing process but Elfie’s body is missing the ability to deliver the initial burst of adrenaline needed, meaning she becomes gravely ill very quickly. She takes a maintenance dose of medication to counteract this but when she’s ill she needs to be given this adrenalin manually.

Nightmare number one was when she had her flu jab – we woke up at 8.30 realising she hadn’t stirred (her usual wakeup time is between 5 and 6) and when we rushed to her she was floppy and weak. This was the first time I injected her with her emergency intramuscular dose of cortisol which was terrifying but the immediate effect was amazing.

Nightmare number two found us in A&E a week later with a very poorly child.  It transpired that she’d had tonsillitis and an ear infection and needed another emergency cortisol dose, which we didn’t have at home as our doctor wouldn’t prescribe her the medication without seeing her first (naturally the wait for an appointment was 2.5 weeks). More drama ensued when the paeds nurses refused to give her injection intramuscularly as directed on her emergency notes – they wanted to put an IV in her hand instead. We refused, Elfie has the trickiest veins (blood tests are horrendous) and it has taken hours for consultants to get IVs in her before, plus we knew that shortly after her IM injection she would perk up and there’d be no need for further medication. So as we were going against medical advice they agreed to prescribe us with her medication but I had to inject it myself. In the hospital. Whilst being watched by a nurse. And as we predicted within an hour she was back to normal and they released us after another hour of observation. It is so tough being in that situation and knowing you are behaving like ‘that’ pushy dickhead parent, but as what she has is so rare I feel it’s necessary. And I always apologise for being so ‘assertive’ afterwards.

Since then we’ve had a long night of baby sick (caused by coughing from a sore throat so no hospitalisation required) and some pretty awful teething episodes but apart from that she’s been good. I think I’m almost at the stage where I feel comfortable enough with her medical situation to be able to take her abroad, albeit preferably somewhere English-speaking with good medical facilities.

Elfie’s language skills aren’t that brilliant at the moment; when I first got pregnant I envisaged that by this time, with the baby moving and kicking, we’d be able to curl up on the sofa together and talk to Elfie about her new baby brother and how exciting it will be for her. We could certainly do that but I expect she’d be clamouring to get down so she can go and blow her nose on the carpet on the stairs, or give the living room rug a cuddle. I asked her if she was an alien today and she said “yeah”, so I don’t think she’ll understand the new baby before it arrives.

Elfie with Bryony‘s little girl Frankie, at a recent ShopStyle event

Her vocabulary has expanded a little to include “nana” (banana) and a lions growl (grannie) but aside from that she’s still only saying “yeah”. I think she’s a little behind in this respect but as she spent the first three months of her life very poorly and not developing I guess we’ve got this time to catch up, and new sounds are coming every day. She can understand A LOT of what’s said and definitely knows her own mind. She won’t be doing anything she doesn’t want to do and she will do as much of what she likes to do as possible (read books, eat ham, swim until her lips turn purple).

We’ve had to broach the tricky idea of discipline this month. Because she can’t articulate her thoughts she often gets frustrated and hits or kicks out, which is definitely not OK. Other than this she is an extremely well-behaved little girl and we can take her pretty much anywhere and feel quite confident that she won’t have a meltdown – lucky for us as we like to go to restaurants. The only exception to this rule is if there is a soft play area in the vicinity – woe betide anyone who lets her near but not in to soft play.

The last point: teething. It’s a bit of a shitter, isn’t it? I know kids have got to grow teeth somehow but they really come in the most painful and horrendous manner. They bring us so many nights of broken sleep, big old mouth spots, dribbling chins and a lot of grumbling and groaning. I am however very impressed every time I see Elfie with her whole fist in her mouth. These are the skills in life that will make her LOTS of friends at University.

A Hellish 24 Hours

When Elfie is growing up I never, ever want her to consider herself different. Despite the medication and the doctor’s appointments she will always be normal. One hugely comforting thing I took from my last post about her is that it’s not just us in a difficult situation; every family has their quirks, their intricacies, their differences. People have problems and issues but they just don’t get discussed, and that’s why it’s easy to feel isolated and alone. So thank you a million times over to everyone who commented, it really reassured me.

Saying that, when you’ve had what feels like 24 hours from hell it can be difficult to remember what the eff your version of normality is.

Sunday was wonderful; a lie-in and morning of cooking and playing before we welcomed some friends from our old Shoreditch life into the countryside. I made a retro prawn cocktail, beef shin stew and apple pie, and we had such a great afternoon of storytelling and reminiscing. But that evening after her bath all Elfie wanted to do was cuddle, which she usually hates, and is a sign she doesn’t feel good. We cuddled through In The Night Garden and she went off to bed, but when I checked on her at 10pm she was fiercely hot.

I stripped her bedclothes off and checked her temperature – 38.5, 2 degrees hotter than normal. No diarrhoea or vomiting, but she was obviously weak and in discomfort. This is the point I always start to panic a little bit, start wondering if we should pack a bag for the hospital, call the doctors, check her blood sugar. I think ahead and wonder who we will speak to on the phone, whether it will be a nurse or a doctor and how I will put into words what is happening. Having to explain to a medical professional what is wrong with my little girl and the treatment she needs feels wrong, unnatural and leaves me feeling nervous when we know more than them about it as is often the case. I worry about having to spend two days on a noisy overly warm hospital ward, with neither of us getting any sleep (Elfie because of the lights and crying, me because I have never met anyone who can sleep in a plastic chair).

Luckily the last time we saw her specialist in Nottingham I’d asked them to draw up a new copy of her ‘sick day rules’: a two-paged document spelling out her condition, her current medication, the names and emergency numbers of her consultants and exactly what to do in case of varying degrees of illness. At this stage he was the least worrying, with a temperature over 38 but no sickness or diarrhoea, which are immediate ‘go to hospital now’ signs. She’d eaten very well that day so I knew her blood sugar would be decent, so we administered her medication alongside ibuprofen and paracetamol to ease her discomfort and bring her temperature down.

She fell asleep in between us in our bed – something that hasn’t happened for over a year, since she was a tiny baby. Of course this meant I got no sleep as I kept checking her little sweaty back for a temperature (it peaked at 39.4) or stroking her head as she moaned. She was so hot and shivery and sad.

At 4am her temperature had stabilised enough that we could put a babygro back on and put her back in her own bed. It’s all a bit of a blur but I remember getting up to her three times, stubbing my toe each time, and Will doing the same (minus the stubbing).

Today was a haze of making sure we all ate vaguely on time, working, catching half an hours sleep when we could and CBeebies. Lots of CBeebies.

Writing all this down is making me feel slightly self indulgent, but I wanted to put into words how utterly drained I now am. The long night watching over my poorly shivering baby, watching for signs that would mean a speedy drive into hospital. The tears today at the unfairness of how difficult life can be, and the thought that this is what she’ll have to struggle with every time she’s ill. The work deadlines I still had to meet even though all I wanted to do was hug her all day.

Every time she is ill like this I feel like it mentally sets me back 6 months. Reminding myself how swiftly she can become so poorly is terrifying and means I will be loathed to leave her alone for the next few weeks, and definitely not overnight. I want to wrap her up in cotton wool and never let go. I was not built nor prepared for this level of worry.

But I need to take a step back and look at the bigger picture; motherhood is tough for me but it’s bloody hard for everyone else too. Other mothers experience much worse and survive, and we all get by on miniscule amounts of sleep. There are weird baby illnesses, teething, development issues… so many trials that other families go through. I need to remember that Will and I have a bright, beautiful child who is completely healthy 95% of the time and a pleasure to look after 100% of the time. I’ve had my day of feeling sorry for myself, now it’s time to move on.

Genetics and Pregnancy: What Would You Do?

A background on Elfie’s condition can be found here and a post I wrote when she was diagnosed is here

We had some really good news from our genetic counsellor last week. The scientists in Frankfurt who have been analysing Elfie’s blood have managed to isolate and identify the changes in Elfie’s genes which leads to her condition, and rather than her having one gene abnormaity, she has two. Which means that they are now going to be testing mine and Will’s blood to unravel the mystery that is our Weird Genetics.

It’s taken them a year for a few reasons. One, because it took them so long to diagnose Elfie as her condition is so rare; the closest I’ve found to concrete numbers of affected people is a US genetics website that reported ‘at least 60 known cases’ in Feb 2010. Two, because nowhere in this country performs the analysis needed to identify our wonky genes and there were only two places in Europe that could. Three, genes are really small, and as they had no idea where to start with Elfie’s they had to sift through all of them… I can’t even begin to imagine the science behind all of this and my foundation in Medicine (thanks to Grey’s Anatomy) doesn’t even begin to cover it.

I’m glad they have managed to crack our genetic code as we were starting to get a bit worried for unborn Harold baby. In all honesty it’s been a bit of a struggle already: Elfie’s endocronologist has been helpful but unsure as to whether this baby will need treatment in utero, my midwife did an amazing ‘WHA?’ face when I tried to explain Elfie’s diagnosis to her at my booking in appointment and the hospital’s screening department gave me the equivalent over the phone. My maternity care will be consultant-led and closely monitored but there won’t be any testing until the baby’s born. In short, at this point it’s a bit of a waiting game.

We were offered an early amniocentesis to test the new baby’s genes but with the risk of miscarriage I don’t want to chance it. The genetic councillor offering us the amnio told me that we should only have it if we would be planning on ending the pregnancy if the new baby had Elfie’s condition, and we wouldn’t. Though she takes special care and management, once you know Elfie’s danger symptoms, her processes when she’s ill and medicines inside out I don’t think it takes much more than someone with an illness such as diabetes.

However, I am getting more and more concerned about the unborn baby. There’s a one in four chance they will be born with this condition; their blood will be sent to Frankfurt on the day they’re born and there are other tests to be done on day 3 that will give a good indication as to whether or not they’re affected. There’s a two in four chance they will be a carrier, something that shouldn’t affect them in their lifetime as the condition is so very rare, and a one in four chance they won’t be affected at all. It makes me stop and think about whether or not we’ve done the right thing; knowing we have a one in four chance in passing this on to our potential children, should we not have had any more kids? And should we draw the line at two, because of the risks?

It’s difficult to rationalise that thought when we have Elfie, who aside from this little blip is the brightest most beautiful baby. She’s stayed overnight in hospital perhaps two or three times in the last year with vomiting bugs that means she can’t digest her medication and has had more doctors appointment than your average toddler, but has been completely well otherwise. She’s just had her first cold and has recovered quickly and as a normal child would and is growing and developing properly for her age. But then it’s also crazy to think that 40 years ago the doctors would have had no idea what was wrong with her and she probably would have died; the oldest person living with this condition is in their early 40′s, it’s only very recently that medicine has become advanced enough to identify and treat it.

Worrying about whether or now we’ve done the right thing in having another baby could morph into a whole debate over the morals and decision behind procreating – so many people are affected by conditions such as Coeliac disease and Alzheimers that are hereditary, so where do you draw the line? Where do you reach the point that you rely on medicine to such an extent that mutated genes and a slightly modified lifestyle don’t figure in the decision making process?

What would you do?