Congenital Hyperinsulinism Awareness

www.hi-fund.org

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? 

To gastro or not to gastro PART TWO ♡

Thank you so much to everyone who called/text/emailed me today to wish Orlaith well on today's GOSH call after last weeks post - we're so lucky to have support from you guys! xxxx

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So here it is... Orlaith's range since Wednesday as been interesting to say the least - 2.9-7.4 - with seven occasions below 3.5, ranging from 2.9-3.3 - not amazing considering the vast increase on the Octreotide but understandable as the little madam is reluctant to feed.

Do you ever get to the point where you just want to pull your hair out?  Waahhh. I literally stayed home all day today just trying to pump her with food!! 

I touched base with the specialist team

today for the update on Wednesdays apportionment - as parents we have said no to the gastrostomy UNTIL we have more information and have looked into other options too. If feeding carries on this way then it would be inevitable. It's a shame my Nan couldn't come over today, she is like a bottle feeding queen when it comes to Orlaith - she can easily get 150ml of milk in her into time, thankfully we're seeing her tomorrow... Definitely putting her on the feeds!! ;)

Sirolimus is still now an option so we'll see what her consultant suggests - we are going to be re-admitted to Rainforest ward at GOSH as soon as possible, probably in the next couple of weeks... And the journey will be again all over again in finding what keeps Orlaith stable and within normoglycaemia levels. 

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