2 to 1... Nearly there!

It's been a while, but here's where our Orlaith is at...

At Gt Nanna's house

So for the past couple of weeks, we have been trialling Orlaith on just one injection a day (how frickin' scary?!). After the success of cutting down from 4 to 3 a day, we gradually went down to 2. So now, she has one daily injection of Octreotide therapy - a minuscule 0.05 mg - at 8am; which helps to stabilise her in the mornings, with the Sirolimus treatment, which is still twice a day at 2.2ml at 11am and 11pm.  So far, this is working really well and I'm pleased that she has come so far since she's been home - Orlaith previously had been on 0.28mg 4 times a day and I'm rather surprised it has happened this quickly! Her current BM range varies week to week but recently has been around 2.9-13.3 mmol/L, but only on a few occasions below the 3.5 mmol/L safety guideline and the lows have had explanations (e.g a vomit, is unwell and reluctant to eat etc) whereas before we had nothing to go on. All in all, she's doing really well at the moment!

                               Medicine....

Orlaith & her Daddy!

Ideally, there will be no more injections soon but at the moment, I'm hesitant to stop them altogether simply because that injection a day is is a back up if Orlaith's body is relying elsewhere for glucose. One of the downsides of the Sirolimus treatment is that it weakens and compromises the immune system, so Orlaith has been constantly unwell for around 10 weeks now. It started with a severe ear infection in both ears and has snowballed to various colds and infections. We never seem to actually get rid of any illness before it flares back up again and she currently has a bad chesty cough and phlegm on the chest, so because of this she's been on various medications and antibiotics; some increase blood sugar if there are any traces of sugar - for example calpol (unless it's sugar free). So because some tend to increase the blood sugar, it makes it tricky to figure out whether she's naturally becoming more stable - therefore not needing the injection, indicating it can be cut out completely - or the medications are keeping it raised and without it Orlaith can't hold the stable blood sugar by herself - therefore needing the one injection and to carry on as it is - so until Orlaith is better, it really isn't worth the risk of stopping it and then if something goes wrong to take backward steps and go back to 2, then 3 or 4 if necessary and so on. I'm happy with where she is at the moment, she's safe and with continued support from the specialist team at GOSH, we're going to stick to this for a while. We also had an admission at GOSH for three days back in September, it was just the usual BM profile/fast/blood work - which all went well, it was also her shortest admission yet! It was slightly harder than usual, as obviously we had Emila to think about as well as still recovering from the caesarean and the complications, but thankfully my parents helped out massively so she was looked after during the day by them then myself and their dad took it in turns being with Orlaith and staying with her overnight whilst the other goes home for Emila... hard work with the constant train journeys but we made it work.

Development...

With Orlaith's development, she fills me with pride every single day. She loves to count (although has a tendency to miss the number 3 out haha) and knows quite a few colours, she's just always chatting and running around, wanting to know what everything is and how it works. It amazes me how she speaks and every single day, she's stringing more and more sentences together. Orlaith's also very friendly and loves to interact with others, especially children... I can't wait for her to start nursery next year as she will love the interaction and social aspects! Potty training is coming along slow and steady, she's had a few hiccups previously so gradually we reintroduce it and back away if feel we need to and let her take it at her own pace. To think we were told she would be braindead by the age of one/two or have little to no brain activity, leaving her dependent and practically a vegetable for life... how wrong the doctors were!

 Food...

Definitely loves her food!

Orlaith loves her food, it's hard to think that she even has a blood sugar problem! If she had her way, Orlaith would be constantly munching on yoghurts, cucumber, chips, bananas and toast! Unfortunately, she's still heavily reliant on milk and is still unable to have cows milk so is still on the SMA high energy prescription milk - she currently has about 3-4 bottles, sometimes less, in a 24 hour period - this is purely to keep her stable especially overnight when she's dream fed. If her BM is good overnight then she doesn't need the milk so we do have some good nights like that. It's also great on occasions like today where she's lost her appetite from being unwell but will happily take milk so thankfully her blood sugar is not a worry.

Meeting Peppa Pig recently!

Likes...

This girl is also massively obsessed with Minnie Mouse, so much so that everything she could want or have has to be Minnie Mouse... such a diva! After watching the movies not that long ago, she's also pretty fond of Tinkerbell along with Peppa Pig (surely the bain of every parents existence is Peppa Pig?!), who she recently met at the local town Christmas event and loved it. Orlaith loves to sing and dance, if anyone can talk someone into 'row, row, row your boat' then it's her! She's so nosey too, always inquisative, wanting to know everything, adventurous and loves to play; but she can be a right madam and have the devil in her some days so she certainly keeps me on my toes but overall she's such a character. Orlaith's also the best big sister! The love she has for her sister is just beautiful, she loves her so much and loves to help us with her or smother her in kisses and squeeze her so hard for cuddles.


Christmas...
This Christmas is her second christmas but the first Christmas were she is starting to embrace traditions such as Father Christmas, the Christmas tree, presents etc which get her excited and she doesn't stop talking it. My parents have taught her 'HO, HO, HO!' so inevitably she's always saying it whenever Father Christmas appears, so she's getting really into it...including dismantling their tree and taking the decorations down every time she visits!!! I'm so excited for Christmas this year, last year she was only 8 months old so it was a long day where she wasn't particularly interested and buying for her was extremely hard but this year, I know it will be the complete opposite especially now we have Mila around!

"You can't play with that..."

"you can't play with that..."

 

Congenital Hyperinsulinism Awareness

www.hi-fund.org

Has it really been 4 months? Wow.

I can't quite believe it's April and I have yet to post anything in 2014! I've just shifted through my emails and questions relating to this blog and thought it's time to update the land....

Orlaith is still as beautiful as ever, totally biased doesn't even cover it. I am still amazed at how far she has come and what she's doing now, so crazy to think she is 1 in 11 days, where has the time gone?!.... no longer my ickle baby! She has literally gone from strength to strength these past 11 and a half months, I don't think I've ever been more proud in all my life! Her development is on par for her age, if not better which is just amazing - I always love hearing things like this because we were told when she was a matter of weeks old that she may have development and learning difficulties, so for her to be where she needs to be it just makes me so happy! It is still a fear in the back of my mind, I'm more than aware that these difficulties can develop at any time and slight brain damage could be present but she's doing really well for now and thats what I focus on.

We are still a journey and daily battle with Hyperinsulism, not quite on the transient path...but one day! The last time I posted, it was a post on 'Sirolimus'; a new drug which has been trailed on CHI babies. Orlaith started this treatment in November last year and this treatment is also our final step before surgery, but it's working wonders so hopefully this continues. Sirolimus has been in the press recently, and was also featured on ITV news, as it is such a new drug for these purposes but it carries so much potential. As I previously mentioned, Sirolimus is a treatment which is common in kidney transplant patients to stop the body rejecting the new organ - it was during this time that it found that it raises blood glucose levels. I'm no doctor or expert so I couldn't possibly tell you how or why this was linked to CHI and to trail it when persistent neonatal hypoglycaemia is present but it's working and has saved a handful of babies... so completely worth it! There are a few concerns which are quite regularly raised with this treatment, mainly in parents of patients of the treatment - the most popular being the little to no research in paediatric cases and that the treatment not being advisable for children under the age of 13, however these are questions which consultants are dealing with and there is definitely method in the madness here! Also it bares rather unpleasant common side effects; pneumonia, blood clots and an increased danger to skin cancer... obviously not advisably what you would put a baby on but we have seen a difference, which eliminates the worry of them being unstable at home and thankfully there are so signs of any side effects with Orlaith just yet.

 If you would like to read more, here's a link to the GOSH blog about the treatment and how it helped a baby boy.

In terms of medication, Orlaith is still on Octreotide therapy every six hours and Sirolimus as mentioned every twelve hours - gradually if Sirolimus levels reach and maintain a therapeutic range, the Octreotide can be decreased and Orlaith can be weaned from it. As Sirolimus is taken orally, it would make my life if she as just solely on that and the injections could stop, she's at the age where she knows its coming and it's heartbreaking! Similarly, as parents we decided to discontinue Orlaith's gastrto medication - all three of them - sometimes parents just know best, we believed she had outgrown the condition and after the all clear to trial this at GOSH we gave it a go and haven't looked back since!

Of course, her diet is still a big thing for her and it is very strict. I am very on the ball with what she is fed, if you know me personally then you know just how strict I am.. tough love if you ask me!! Orlaith is still fed every 2-4 hours, including overnight with BM monitoring pre feed and when a hypo appear s to be present. Over time, you get to know the food groups which benefit the most but it is always a case of trail and error with new food. Personally, I can't stand it when people just feed her because it's there and she's a baby, "something to gnaw on" they say; I don't think so.  SO much goes into preparing her food and it's great when we find something which has all the right food groups and nutrition but also keeps her blood sugar stable. Food which containing sugar is not always good, which is what most people believe - these foods could bring on a hypo as opposed to a sugar rush. It's important to consider carbohydrates, fat reserves, glucose, fructose, article sweeteners etc. 

Orlaith loves her food, it's sometimes hard to think she has a blood sugar problem!

Also, couldn't carry on without mentioning my second love - I'm currently five months into my second pregnancy, more than half way there. I think thats a whole post in itself, the responses I've received are rather interesting and some are rather intrigued about the HI side of things so I think that'll be the next one. X

Sirolimus what, Sirolimus who?

Wow, it's been well over a month... think that's the longest it's ever been?! Update time.  

So....

Orlaith recently had an admission at Great Ormond Street, surprisingly we were in and out within two weeks, so thankful!  

Orlaith was started on Sirolimus... a immunosuppressant which is more commonly used to prevent the rejection of a kidney transplant, which lowers the body's ability to fight infections and diseases and  it works but weakening the immune system to help the body accept the new organ. From my understanding, it came into the world of endocrine as patients on Sirolimus displayed higher glucose levels, so it is very new in Hyperinsulism patients but it appears to be working well in maintaining blood glucose levels. It is taken orally, very 12 hours so it's much better than injecting - Orlaith is still on Octreotide therapy every 6 hours via sub cut injections but hopefully she will be weaned off this as the Sirolimus levels in the blood reach a certain rate and gradually the Sirolimus dose will increase and the Octreotide dose will decrease, hopefully to nothing at all. It hasn't made the "medical load" any lighter as it's another medication for her to take but she's much more stable on it and it provides so much reassurance, especially overnight.

Side effects aren't particularly pleasant - there are the more common spells of sickness, headaches, possible swelling etc but on the other end of the scale is a viral brain infection which could cause disabilities or death. Luckily, we are only experiencing minor side effects which is trouble sleeping; before going in for this admission, Orlaith's sleeping pattern was fairly normal.. bed by 7/8pm latest and up 10/12 hours later but now we're lucky if she settles before midnight and is up between 10 am and noon - talk about teenage traits already! We're doing everything we can to shift the pattern back 4/5 hours but it's definitely taking it's time; we'll get there.. if trouble sleeping is all this brings us then happy days. 

With the treatment being an immunosuppressant, there is a lot to consider - for example going out can be a nightmare; if someone has a cold/infection or whatever or a friends baby isn't well then it's best to steer clear, as Orlaith hasn't got the immune system to fight it off. We have open access to F1 (Children's ward) at our local hospital anyway, which means we can skip A&E completely and just take Orlaith straight to the ward for treatment so that also provides reassurance given the circumstances. Also, Orlaith is currently up to date on vaccinations but any upcoming ones won't be possible as she will just contract the virus or whatever the vaccination is for e.g MR etc so I'm constantly having to ask people how they are before we see them or ask them not to come over if they are ill just in case ... I'm not being rude, it's just one of those things.

We visit GOSH every two weeks now for a blood test and monitoring whilst on Sirolimus and will have an admission in the new year for other things, so fingers crossed this continues to go amazingly with my little beauty.

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!

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!! ♡