April 2015

Wow, its been how long?!

Okay, so I've been terrible these past few months for updating this blog! Apologies for the silence; classic scenario of busy mum and HI child! Life is crazy busy at the moment, I can't keep up. So, I think it's about time to update the CHI family, or just the general readers who like to keep up with us...

Orlaith is doing okay at the moment - unwell and the HI is playing up, but she's her usual happy, charismatic self. Medication wise, we are still on Sirolimus twice a day and the daily injection. We actively worked for so long to decrease the injections, from 4 a day to 1 a day but we may have to increase back to 2 a day, but I'll go more into that later on. The Sirolimus is still working well with Orlaith's BM levels and so far it is still in therapeutic range, but the downside of the suppressed immune system is still apparent as she's suffered with illnesses and infections continuously since around November time and various things have landed her in hospital. Orlaith's had chronic ear infection consistently in the same ear and has been on antibiotics for what seems like forever, but the infection is now in the middle ear and we've changed to ear drops which seem to be working great. The past few weeks she has suffered with a strange rash all over her body and up until last week, no medication had worked but now it's seems to be a possible fungal rash and this particular cream which we are now trying is doing good and it seems to be clearing up. 

The mucus on the chest hasn't eased and you may remember the sickness post a while back - I thought it was a phase, you know the classic 'lets throw a tantrum and make ourselves sick and embarrass mum in front of everyone' routine? I stuck to my gut instinct - I still can't stress how important it is to be the voice of your children! - and after 6 long, painful months of vomiting constantly, we are on the road of solution and diagnosis. Don't get me wrong, sometimes it can be promoted if she is worked up but its gunky and full of mucus/phlegm (just want you need to read whilst eating your lunch, right?) but usually it's unexpected; we could be walking to the park, she could sneeze, be eating, even roll over in her sleep... she is always throwing up gunk by the bucket load and of course, it causes the havoc and starts the vicious circle when it comes to blood sugar levels. This is why it has resulted in horrific lows (recently she was as low as 1.4-1.7 mmol/L, so horrible to watch - I was genuinely scared for her but thankfully all picked up fine with no organ damage!) and a rush to the hospital on numerous occasions and why we may need to start the second injection at her vulnerable times to keep her stable at home. After chasing it up, our GP has started her stomach/reflux medications again gradually to see what works and what doesn't, whatever doesn't work then we'll stop and try another. I feel like maybe we should have kept the medications going, but this is just what happens and I'll take it as a learning curve. We start the first one today so hopefully it will go well and my washing loads can decrease with the lack of sicky clothes!  The past few days she has been in the low 2's and no higher than 5 along with a fever, a major cause for concern but she's got her visit to GOSH on Saturday 4th so hopefully we can touch base on her medication and see what can be done. It seems to be never ending! 

Onto the good stuff...

April is upon us which means it will very soon be Orlaith's SECOND birthday; I can't get my mind around it, how is it even possible! I swear I was in theatre just yesterday having her and in the blink of an eye she is going to be 2! I count myself very lucky that we are where we are, the road was meant to be so different but she's gone against it all and has come out such a strong, clever, beautiful little girl. In terms of her development, she is still on par for others her age, or the 'average' as others like to say. I decided to apply for a placement at pre-school for her and Orlaith got her place - at the same pre-school that myself, my siblings and my family went to and the lady who ran it when I was was a little girl is still in charge which is really lovely; they have been so accommodating with Orlaith and have gone the extra mile for her needs, I'm so happy that she can go to a good school and thrive in an environment that she loves.

Mila Moo, I see you! 

...And then theres Emila, who is now 7 months! Again, can you believe it?  She is doing brilliantly - she has two teeth currently cutting 4 top ones (major ouch!), crawls, sits up, pulls herself up and cruises the furniture and now she is trying to walk away... this usually ends up in her falling or cruising back, its as if she doesn't realise just how small she is! I have no doubts she'll be walking before she's 1 in August. Being 10.2lbs born, they do say the bigger baby does more sooner, Orlaith wasn't far behind in the milestones but I can't believe Mila seems to be doing something new everyday. Mills also loves her food, I've never known a baby like it - greedy guys usually wants the food as well as milk feed! She's definitely taking this 10 pounder thing to a whole new level!!

We recently had their pictures done, when Mila was 6.5 months (just like we had Orlaith's done at 6 months) and I must say, they are so frickin' cute!! Despite it being a small struggle getting them both to smile/pose, they came out great and I've started looking at frames and all the other boring decor stuff that us mums like to look at and buy so I can put them up! I'll post them within this blog so you can have a ganders, more than happy to show them off... even with Mila's open mouth smiles beautifully dominating every pose and picture! 

I couldn't love them enough, who needs anything else when you have your children around? They literally make my life. 

♡ ♡ ♡ ♡

Emila Coco

Orlaith Rae

Emila & Orlaith

Congenital Hyperinsulinism Awareness

www.hi-fund.org

From 4 to 3....

Wow so we had some amazing news yesterday.

We are currently on a six week break from hospitals, appointments, tests, you name it (due to second baby due any day now!), which is lovely as the travelling was becoming too much for me and my ridiculously swollen feet! I've been in touch with the GOSH team more other the phone because of this and although we aren't able to test regularly if Orlaith is in therapeutic range for her Sirolimus treatment; we are able to determine whether a dose change in the Octreotide therapy is warranted by her BM level range. Amazingly, Orlaith is doing brilliantly at the moment and we have recently had another dose decrease and last night were offered to trial 3 injections a day instead of 4 for a week, making them every 8 hours and not every 6 hours. This is just great news, it means Orlaith is more comfortable as she's at the age where she knows what is happening and literally runs a mile, and it also means we have one less thing to worry about... and we can get more sleep!!  Some may say, and it was pointed out to be a risk by the specialist nurse, that undertaking a drastic change in medication is a lot to take on whilst being pregnant and ready to pop but I welcome the pressure as we have so much confidence that this is a step in the right direction and we will make effective progress from is.

Last night was the first trial of stepping up to 8 hourly and Orlaith slept beautifully, she always sleeps through the night but she's very unsettled around injection, medicine and feed times. I think this is because we have successfully dream fed her for a year now and her stomach subconsciously knows it's empty or needs milk, causing her to be unsettled and sometimes wake, although to completely wake is very rare. Similarly, we slept like logs and got 4 hours straight which we haven't had since before she was born! I woke up feeling so refreshed! I'm so happy we have made it to this point and I hope it continues so we can get her off Octreotide therapy completely and leading a normal life as much as possible. At 16 months, I think she deserves it!

The next steps are to hopefully carry on the week long trial with success so we can continue to put a new treatment plan in place and we are also looking into changing her feeding routine too; to make it more suitable for Orlaith, her age and dietary requirements. This will include looking into amounts, measurements and timings of certain meals, as she is still heavily milk reliant - some days she has her whole intake just in prescribed milk, on top of 3 meals and snacks - we would love to not need to give her so much; how she isn't overweight and still tiny in 3/6-6/9m clothes in beyond me!! I hope that over time we can meet these steps and become closer to being mediated through diet and not treatment.

Second baby so soon...

Life has been crazy busy, what with a 1 year old and an unexpected move... I sometimes I forget that I'm pregnant! It is completely safe to say that this pregnancy caught me completely off guard but I wouldn't change it for the world. Of course, with Orlaith's CHI being diffuse and from a genetic gene, the response has been mixed and I've had quite a few questions commonly asked....

I found out I was pregnant again around the end of November/beginning of December, I was around 5 weeks at the time and Andrew was away in Cannes with his work. I had felt nauseous and had the most dreadful migraines, it hadn't crossed my mind that pregnancy was a possibility but surely it couldn't be right?! I had felt like this a couple of weeks prior, during Orlaith's 2 week admission to GOSH but put it down to nerves and worry - I think I even joked that I hadn't felt that crap since I was last pregnant with Orlaith but again, it never entered my mind that it was a possibility. When the pregnancy was confirmed, I was unsure as to whether I would be able to cope with two children under two - as much as children a year and half apart is not uncommon, having a child who requires extra attention and 24 hour care is less common. We haven't slept a full night since Orlaith was born, surely we must be mentally insane to add a newborn into the mix? 

Genetically speaking, we have been told it could be a 1 in 4 chance for HI under our circumstances but the average being a 50/50 chance - it really depends on how the genes present themselves and what luck you have. This has put so many people off, especially if they have a child with HI and I believe that until you experience this condition first hand or deal with it on a daily basis as a parent or care giver then you will never truly understand - I can 100% comprehend why people go on not having any more children and why other ways are looked into... IVF via donor, adoption, fostering etc. As parents, Orlaith's dad and I said from the beginning that we would like more children if it was possible and that HI would not play a factor in our decision. Statistically speaking, as long as we have children together so its our DNA doing their business, the chances remain the same whether we have another child now, next year or in five years which is why it doesn't play a put in our decision process. Of course, as with any expecting mother, my baby's health is paramount and I want nothing more than a healthy baby but if they unfortunately have HI too then I would consider it 'lucky' that we have the knowledge we do now - we have a fantastic team looking after Orlaith, my family are supportive and I know I can count on Andrew for literally anything.

The downfall is, at this current moment in time you can't "test" for CHI in a pregnancy, so more care and monitoring has gone into this pregnancy. As many people know, Orlaith as a large ASD in her heart which thankfully at the moment hasn't worsened and surgery is a long way away, if it's still present at the age of 4/5 then keyhole surgery through the thigh will take place but if it get worse at this age then open heart surgery will need to take place. As far as we know, she was born with this and it got slightly worse after her central line was placed. This time round, I have been for fetal cardiology scans and appointments at St Thomas' Hospital in London for an a full examination of the baby's heart and luckily so far all is looking well; unfortunately it doesn't eliminate any future heart problems for definite but its relieving to know that for now all seems well. I also have consult appointments regularly along with scans every 2/4 weeks and I see the midwife more often than most to keep an eye on things. I feel completely supported by my community team, which reassuring on the non CHI side of things that all areas are being looked into. If CHI is detected then the team at GOSH will be on hand to monitor and treat. 

Our baby will be monitored in SCBU once it's born for monitoring, again the team there are amazing so I know she'll be in safe hands and it won't be as daunting the first time round.. but I hope I get the chance to take them home fairly quickly. I mentioned in a previous post, a mothers 'mutual longing' to take their baby home and I really struggled at first after having Orlaith - I relate heavily to anyone who has been in that situation of not being able to take their baby home straight away or if their bundle of joy is not as healthy as they'd like. I find that I practically throw myself at people who are or have been in a similar situation as I was with Orlaith. I struggled after Orlaith was born, not only mentally with PND but also with the fact that it didn't matter how many people tried to console you, they could never imagine what it was like. I found myself jealous of people having healthy babies and taking them home shortly after giving birth and I was racked with guilt always wondering why it was my baby. No one in my family had taken a journey similar to mine, except my Nan who unfortunately lost her daughter at the age of 2, so I found it hard to digest the practicality of having a poorly baby. So after all this, I had to question whether I could go through it all again but this time with a 16 month old. Despite all this, I'm not scared as I feel I know what I need to right now and I believe that anything else I need to know will come to me in due time.

Also in comparison to Orlaith's birth, I would like to have the 'ideal' birth that I longed for when I had her but of course, it never works out how you want it to so I would love it this time round. No theatre and 5 epidural top ups for me this time round, thanks... I also want to be able to walk and not have to be aided everywhere I go for the first few months after, practically learning to walk again! I recently had a meeting with the anesthetists to flag out any issues, discuss pain relief and to get a plan in place for when I go into labour. I have to say, I was dreading it but it turned out really well - due to my BMI (not going to lie, it's on the high side and I've worked hard to maintain my weight), it was a worry if I would be able to have pain relief, which could cause problems if theatre is needed. I want a smooth labour with as little pain relief as possible, so thankfully we were all on the same songsheet! I had my back checked and an epidural can be sighted should it be needed for local and my airwaves are also adequate if general anesthetic is required.

So in regards to questions you've asked me, I hope I've answered them. Don't let a statistic put you off, it is not worth the stress and worry; it's not healthy for you or your baby! Surround yourself with positive, supportive people and enjoy it. I have just over a month til I'm due and I couldn't be more excited and I can't wait for Orlaith to meet her baby sister! 

Why is more not being done?

After dealing with CHI for 25 weeks now and researching it in depth... don't get me wrong, I'm no professional but it's crazy the amount of time I've spent reading up on everything I possibly can from websites, blogs, information outlets, books, you name it! I am that annoying person that will randomly start a conversation about a condition you have never even heard of and start blasting you with facts and statistics. 

One thing I keep reading about and hearing over and over again is the mistreatment of CHI and the effects this causes; and it's a total shame that by doing ONE thing, misdiagnosing would be halved and mistreatment would not have to happen. 

Call me crazy, I believe every newborn should have a mandatory glucose test via heel prick at birth. I could not preach this any louder if I tried... and trust me, it's all I do go on about when I hear of these horror stories which are gradually coming out of the woodwork and into the press. This needs attention.

But babies have a blood spot I hear mums saying... I fully appreciate the importance of the five day blood spot, but I do not think it is enough. Do you know exactly what that tests for? The majority of people I ask have no clue. This mandatory blood spot picks up on disorders such as cystic fibrosis, sickle cell, phenylketonuria, MCADD and congential hypothyroidism which are all extremely important to detect in newborns; however, this screening does NOT test glucose levels so hypoglycemia is not detected so conditions such as congenital hyperinsulinism go undetected; therefore, it isnot treated  or it is misdiagnosed  and that is when the horrible risks start to kick in. More and more babies are being misdiagnosed, not given the right treatment and some unfortunately dying due to low blood sugar levels (hypoglycemia) - It's not just the brain which can be in danger if left untreated; the heart, blood vessels, kidneys, eyes and other organs can be damaged too. For the sake of a newborn's health, if a heel prick is all it takes then surely more parents would be willing?

I have no idea how glucose testing (BM's) are dealt with anywhere else in the world but in the UK it is not compulsory - in my opinion, it should be. The amount of lives which could be saved or made better, not necessarily of newborns, is beyond worth it.

My local hospital, obviously I can't name names, does not carry out any blood glucose measurement tests unless admitted to SCBU (Special Care Baby Unit) and this goes for many hospitals in the UK too. Tragically, many babies symptoms are not picked up and if symptoms are picked up, it is usually too late - if glucose monitoring was done at birth and monitored if needed then brain damage and even death can be avoided. 

I'm  continually reading how midwives dismiss mothers requests and concerns too - This article is about a baby who unfortunately died because his mothers concerns were not seen to by a medical professional. The mother raised concerns about her baby's feeding and abnormal crying -  she was simply brushed off as being 'anxious'. Any concerns should be followed up by a medical professional , mum knows best! From what I've read, midwives also need more training and equipping in the monitoring of blood sugar levels - what to look out for and how to treat a hypoglycaemic situation. Of course, my opinions do not go out to every midwife out there or every nurse or medical professional and yes some are trained in this but it's happening less and less often by the looks of it and something needs to be done about it. In other cases, even if patients symptoms are being picked up, some are still not receiving the right care and are not receiving the correct treatment - some doctors have not heard of this and it is misdiagnosed in numerous cases if not detected at birth. I got to know one mother at the hospital whose baby had been misdiagnosed, the drs did not know what they were dealing with - for the first ten weeks of her life, her daughter was pumped full of drugs which did not make any difference to the condition but instead made her really ill - thankfully she was transferred and put into the right care in time. 

This article is definitely an interesting read; it just proves the point that more needs to be done... brain damage should not be an option for any, otherwise healthy, newborn! I do wonder if the NHS sees this as a problem or not... Glucose is so important to the functioning of our bodies, without it or ketone bodies - what fuel does your brain operate with?  

The HI fund are constantly researching and attentively looking for lifelong answers to HI and the problems is can cause. Would you believe that NO research is being done in the UK for this condition and little to none being done anywhere else in the world... simply due to not having the funds. With the correct funds specialist staff could be employed, equipment could be brought and research carried out - this may be a rare condition but plenty of babies are being born with glucose issues, whether they be transient or persistent. 

All from one heel prick at birth, so much can be identified, especially if the baby is symptomatic, and if necessary then the right diagnosis and treatment can be given. It's so sad that this is even happening in our time. This is just so important, I can't believe how many deaths are caused by this and hardly none make it to the media or public knowledge! It won't go away unless something is done.

I can't fault the medical team that dealt with my daughter: I feel the staff listened to me, they knew I had issues with how my daughter was, especially overnight and they checked it out. This is how it should be! I can't even begin to imagine not having her here today, especially if it was just down to negligence.

Any more children I have with Andrew (as Orlaith is hyperinsulinemic on the grounds of a confirmed paternal heterozygous mutation in the ABCC8 gene) has a one in four chance of suffering from hyperinsulinism too. I already have a birth plan for my next child - the baby will be heel picked at birth, no questions asked; no risks are being run this time.

I'm proud to say I'm hyperinsulinism aware, are you? 

Re-admission baby!

So today (sept 9th) we have Orlaith's re-admittance at Great Ormond Street Hospital. Every so often, Orlaith will be re-admitted for monitoring, fasting, profile building and investigating...to be honest, it could not of come at a better time, as she's been up and down lately with no real explanation as to why. This stay is intended to be short stay, hopefully it stays that way! 

We are on Kingfisher ward and as Orlaith is still a high alert patient, she has her own room...with an en-suite so I'm a very happy mummy, no communal showering for us! Haha! 

Today will be spent building a BM profile, so these will be done 2 hourly to see how she is coping with glucose levels and also to get an idea of where we're at in terms of her octreotide therapy and feeds. I'm feeling pretty good about it this time round; hopefully we'll get some solutions and questions answered! Orlaith also has a gallbladder scan today to see how that's getting on too. She's gonna be a busy lady! Its so strange being back though, its almost like this is home and we've been on holiday for 7 weeks at our house!! ♡

51 Days

We brought Orlaith home 51 days ago... 1 month 20 days... 7 weeks... 1224 hours and it's gone crazy fast, I can't believe I haven't posted in 7 weeks!!

I love being home and I adore having Orlaith home. Don't get me wrong, she definitely has the devil in her some days and is a diva every day of the week but as a baby, Orlaith is doing amazingly! I swear she is getting more and more mobile every day.. constantly shuffling everywhere (crawling soon, I hope!), has her hands and mouth all over everything, trying to sit up by herself, enjoys food (pureed, of course), sleeps through the night... I could literally list a million and one things as to how she has changed, it's unbelievable! Like where has my baby gone?!! 

Of course she still has CHI, and it is an on going battle to monitor it at home. We are constantly exhausted, her medical schedule is insane... for the last few weeks, we have experienced hypoglycaemic fits regularly... struggled as parents trying to grasp the disease... and of course it wouldn't be sods law if after 4 days of being home we weren't blessed with teething... but in all seriousness, throw whatever you like at us 'cos we're still over the moon to have our beaut home!

One compliment I get a lot (besides the amount of hair she has haha!) is how happy and smiley she is - she is constantly smiling and chatting away and always in a happy mood; it's strange because you would never believe anything was actually wrong with her sometimes, or has gone through anything like she has. I love waking up and seeing her face in her own cot, not on a ward being prodded every hour or setting off her own monitors... the experience of having a baby home is still new to me but I'm loving it. We are in the 7th week of being home, for most babies this would be at the age of 7 weeks so still a fairly small teeny tiny newborn (I have 100% forgotten what that is like, Orlaith is 14lbs worth of mini human now!), I'm still getting used to so much. I'm not going to lie, I do sometimes feel cheated. Like any other pregnant first time mum; I spent a fortune on clothes and getting everything the baby would need, getting her nursery all ready and making sure it was just right, picking the perfect pram, nesting to a worrying point of scrubbing skirting boards and banisters at 3am and re decorating the whole house so everything was right... I would never in a million years of thought that I would be in hospital for 15 weeks with my child suffering from a condition I had never even heard of! Just the other day I put O in her pram carry cot and she's the exact same length as it... what happened to my baby? Of course like any other 20 week old, she loves to kick and flap so the pram is definitely no good... time to dig out the stroller attachment for sure! Waah!

So we've been up to so much since being home.. for the first few weeks it was constant appointments; I obviously haven't posted in 7 weeks so here is a brief update for you;-

We go back to GOSH for re-admission on the 9th Sept, this is a monitoring and investigating period where the hyperinsulinism and hypoglycaemia are managed by her consultants and this is when and where any changes will take place, it is also a their chance to see how Orlaith is getting on, run tests they need to and all that kinda stuff; Orlaith's GORD (gastroesophageal reflux disease) is under better control now and is throwing up rarely, keeping her feeds down now and is generally more happy at feed times now... feeds are still hit and miss, she has only just grasped the concept of food and getting the feeling of hunger but it's great that she's come this far and learnt to feed in such a short amount of time; Orlaith still has a large atrial septal defect in her heart (possibly from her hickman line), a scan last week showed a hole which is 7mm wide but there is an island which has grown in the middle of it so effectively there are 2 holes along with the atrial septal defect, there isn't any pressure on the chambers so this will just be monitored and operated on a the age of 4/5 if necessary with 2 more heart scans to follow in October; we finally got to attend O's audiology appointments and after what felt like years they finally confirmed that she is not deaf in her right ear (despite what drs etc have said!) and that fluid is build up in the eustachian tube in the middle ear and will go over time; blood counts are currently normal so no more transfusions just yet... and breathe! So much to keep on top of, but overall this little lady is doing beautifully.  

Orlaith's still has subcutaneous (injection) Octreotide therapy every 6 hours, as a long term treatment for CHI. Octreotide is not currently licensed in children with CHI, but is used if the child is unresponsive to diazoxide (check my previous posts for more on this)... She's doing really well with them, at first I thought I wouldn't be comfortable giving my baby injections but we aren't phased by it, O takes it like a trooper with a tiny whimper then it's back to smiles or sleep depending on what time of day or night it is! BM management is still every 3rd and 4th hour of the day - this is 24 hours a day like everything else, they have been up and down recently and it cant be extremely hard especially when Orlaith is asymptomatic (does not show symptoms) in a hypoglycaemic episode but we have learnt to manage it and keep on top of the monitoring. I've heard this from a couple of parents, with children also on Octreotide therapy and I have to agree...one thing I can't stand is pity... the amount of times I hear things about Orlaith's medication is beyond irritating, at the end of the day Orlaith's health is paramount to me and any other parent would do whatever is required of them to keep there baby alive and healthy and NO I don't feel bad for doing it. 

 Of course this takes its toll; I can't remember the last time I slept more than two hours at a time and I'm constantly functioning like a zombie but you just make it work, I think it's more tough as Orlaith has slept through the night since she was 8 weeks old - she doesn't even wake for feeds - which for a normal baby is amazing but cares and meds go on throughout the night so lucky for her, but unlucky for us... she also has to be fed every 3-4 hours without fail otherwise she will slip into a hypo fit, so again it's hard because she is asleep so thank God for dream feeding! We sleep when it can (we  get 5 hours spaced throughout the day which are "free", so nothing meds wise needs doing, so we sleep in this time) but I do find that people don't understand and are sometimes not happy if we are unable to make plans etc but it's just how it is, gotta do what you gotta do! I speak to a lot of parents those children, especially newborns with the congenital disease, experience  this and find it difficult - give yourselves a break! Learn to be firm and say no...at the end of the day, your child's health is more important than anything in the world so if you want to sleep or do nothing when you can, forget these people and do it! I'm not afraid to admit it but I also became a recluse when we brought Orlaith home, as well as Orlaith being sick I had my own post-birth issues... I just didn't feel comfortable in public - especially having to do meds etc outside of the house; but I'm gradually getting there and lets just say I'm not comfortable in every social occasion anymore but my advice is that the feeling of anxiety will eventually go, we just need to get on with it at present - you've just had a baby/or just found out your child has this, so cut yourselves some slack...it's not something that will digest quickly, time is definitely the winning factor here.

I really hope the other parents are now home, if not have their coming home date..in which case I hope it's SOON. I've been asked a few times if I'm on Insta or Twitter - I'm the most easiest person to find - @LimaraBanks for both - beware I am the biggest mamarazzi ever and will probably bore you to death with pictures of Orlaith. Totally sorry not sorry ;) xxxx