Congenital Hyperinsulinism Awareness

www.hi-fund.org

Emails!

I love getting your emails and answering any questions or interest you may have about CHI. I'm glad i have been able to help and offer support to others, especially those of you who read my blog from all over the world! Amazing! It makes me happy that I decided to share our experiences.

If you would like to email me, please feel free. I will respond as quickly as I can.

limarabanks@gmail.com

Please note I AM NOT a medical professional, I will happily answer questions based on MY PERSONAL experiences but I can not offer medical advice or a professional medical opinion. Please seek medical advice from your GP, doctor or consultant. Thank you. 

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! 

To Gasto or not to Gasto; that is the question.

Yesterday was Orlaith's first outpatient appointment in the endocrine clinic with Dr Hussain and his team. We were going to not only follow up Orlaith's progress since being home, but we were also going to discuss the recent short stay admission on Kingfisher at Great Ormond Street Hospital.

If I'm 100% honest, I just had this feeling that we would be hearing news - whether it be good or bad. Dealing with Orlaith on a day to day basis, solely by myself whilst her dad is at work during the weekdays; I had this instinct that it might not be what we wanted to hear.  I do all of the liasing with the HI nurses, GOSH, GP's, pharmacists, appointments, constant prescriptions.. you name it and the past few weeks haven't been Orlaith's best, I could just tell - it doesnt make it any better that there was never a day where the BM readings have been amazing since we've been home. Similarly, I was thinking that the CHI would become transient by now. I'm not too sure whether that's me thinking realistically or naively. 

Here we were, sat down like before  with the what felt like the whole world in the room.  Orlaith's not made any significant progress in her levels for the past 23 weeks, since birth; she is still producing the same figures she was back then. That explains it then, she hasnt fotten any better - we've just kept her stable. Que the sunken heart feeling...

Orlaith managed just shy of 3.5 hours on her fast (10am to 1.30am).
10am - 6.3
11am - 5.7
12noon - 4.3
1pm - 3.2 (although a BM reading should never drop below 3.5, during fasting it's 3.0)
1.30pm - 3.0
Bloods were taken at this point - this resulted in a glucose level of 2.2mmol/L, NEFA level of 0.78 mmol/L and a ß-OH-butyrate of 0.37 mmol/L - the last two are good as it shows her body is trying to react to the levels of insulin in her system, but ideally need to be higher and well the glucose level speaks for itself.

In the previous post I mentioned the gallbladder ultrasound scan... they found a "sludge" on her gallbladder, at present this is nothing serious and is caused as a side effect from the octreotide but Ursofalk (Ursodeoxycholic acid) has been prescribed to prevent any stones from forming. Orlaith's also not on par for height for her age, although I think she's rather tall (?!) but again it's a side effect from the Octreotide and nothing to worry about just yet.

The consultant's plan of action is to increase Orlaith's octreotide therapy dose up to 0.25mg from 0.20mg every six hours, if there is no improvement they were originally going to consider Sirolimus (a fairly new medication popular as a last resort in unresponsive diazoxide patients) but the chances of it taking effect are slim so on Monday I need to call and let them know how she has been on this new dose and if it doesn't make an improvement....as if all this wasn't enough to take in..we came to her feeding - now of course with everything from GORD to sleeping through the night, we struggle to get milk into Orlaith and really have to push it with her. They want to fit a Gastrostomy. 

For those who aren't familiar with what a gastrostomy is or what it does - its a opening made surgically through the abdomen into the stomach and a feeding device is fitted onto it..it will allow Orlaith to be fed directly into her stomach, having no contact with her mouth or throat.  Orlaith will more than likely have the PEG (percutaneous endoscope gastrostomy); this will be fitted via an operation under general anaesthetic and held in place by a disk in the stomach wall.

This decision from what I can gather is down to us, not only for Orlaith's welfare but our own too - as parents we can't let her suffer with insulin secretion and fits, seizures and brain damage as a constant risk; her health is paramount, nothing comes close to how much we want Orlaith healthy and safe but also as parents, we can't go on being up all hours of the day and literally functionally on 20 minutes-3 hours sleep a day, feeding her at every possible moment to keep her glucose levels up and BM's above 3.5. If she was to have a Gastrostomy fitted, and this failed a full pancreatectomy would be stage two; which is a whole new ball game of complications.

I can't describe to you in words the amount of emotion which I was carrying around with me yesterday, I knew something was about to change but I was hoping for a medicine change or something more suitable but I would never of thought a gastrostomy would come into the equation. As a parent, do I carry on taking my child's care on the chin, having poor health myself just so I can be comfortable in knowing that she hasn't had to face yet another operation and hasn't got to be bound to a machine or as parent do I give consent, knowing that her glucose levels are always up, she'll be okay overnight and also knowing I can sleep too? My heart literally breaks for this, I haven't faced this decision with her father yet, I don't want to even face it at all. I've only just got my baby home and now I need to give her up again? As selfish as it is, I don't want to give her up and I certainly don't want her having, lets face it..in laymans terms, a feeding machine. We've requested information to be sent to us, we'll go through everything before a decision is made but if it's needed, it's needed - I won't let my daughter be at risk. Of course we still have hope that Orlaith remains stable on this new dose of Octreotide; in an ideal world, this would do the trick and a gastrostomy would not need to be considered until a later date or maybe not at all, or maybe even an NG tube instead..Who knows. I guess we'll see how it goes.

♡♡♡


On a happier note, Orlaith had her first train ride from the hospital as her dad works in London so we got the Waterloo train back to Bracknell; least she loved it!