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.

The classic HI vent

So I've been ridiculously busy these past few weeks, it is almost as if everything that could go wrong has gone wrong - you name it... everything from death, to giving up work, to credit card fraud and everything inbetween. Stressed to the eyeballs doesn't cover it!

However, despite all this.. I'm always coming across the same threads, comments and rants when it comes to HI and how others think they can say whatever they like to you without taking anything into consideration. Orlaith is six and a half months old now and I'm still having to deal with annoying people and their unpleasant, irksome comments which I could totally do without! One thing I've noticed since having Orlaith, not just with myself but other parents to patients too... is the frustration with people who really have no clue, who feel they can attempt to preach to you about my child and/or hyperinsulinism. I could simply mention that I'm tired and in response I hear, "Oh welcome to parenthood!","Oh the joys of being a parent" or the most irritating of them all; the dreaded "it can't be that bad". 

I find it ridiculous that someone thinks they can tell you how to look after your child anyway, completely healthy or not, but it's beyond annoying when they feel it's 100% necessary to all of a sudden become a guru in your child's condition. I stand there in shock sometimes with the utter rubbish that these morons come out with... I mean a Dr who has studied this condition for years and years - who is also the worlds best - knows a lot more than these people yet they still go on to act and talk to me like I should be taking their advice. 

"My baby had that", "I have gestational diabetes, my baby must have it", "oh my brother in laws friend has the same, just take care of it at home", "it's just like diabetes", "natural sugars will sort that right out, just try a banana"... A BANANA! If only that was the answer.. I'm sure plenty of parents around the world would be rejoicing, let me tell you! Chances are they have never come across hyperinsulinism. When something as serious as brain damage or organ failure comes into the mix and as a parent I need to monitor and care for my baby 24 hours a day, 7 days a week to prevent it - don't sit there and tell me "it can't be that bad". I would praise Orlaith's dad and I, we never ever complain; we simply just get on with things and accept that it is what it is.

I don't think we should even get started on the lack of sleep. You would think this particular sort would have gotten the hint but no... once again they want to bang on about the joys of parenthood. You have no idea! Yes, EVERY parent will experience lack of sleep at some point and yes, some parents will experience this longer than others; BUT, being up all night (whilst your baby sleeps blissfully through the night, completely undisrupted) conclusively carrying out the 24 hour care required for your child's condition and only functioning on anything from 20 minutes to an hour here on there (if you're even thay lucky) is a completely different ballgame! Unless you have to administer medication, injections, feeding every 2-4 hours, regular glucose monitoring all throughout the night to a sleeping baby, don't even make a judgement. The same goes for during the day but people just talk to me like I do nothing but sit around and watch TV all day!

Others really need to think before they speak, I've seen this happen again and again with HI patients and their parents- we have every right to complain once in a while, don't tolerate someone telling you anything that you don't want to hear. At the end of the day, you are your childs parent; you are their voice as they can't speak for themselves just yet, you know best!

Anyway, I'm glad I got all of the above off my chest. Happy Wednesday everyone! X

The end of an era...

So I met with KT over the weekend and unfortunately, I am leaving Benefit/HOF. I can't thank you all enough for everything you have all done for me - you made going to work bareable on rubbish days and made me laugh when I really needed it. I am truly grateful for your ongoing support and love during the past six months.. and even during my pregnancy. Orlaith's health is more important than anything and due to the CHI, constant appointments and admissions, I can no longer commit to the role as account manager on Benefit. I have so many memories of you all, not just within the beauty department but throughout the store, with past and present employees. Although it was a difficult decision to make, it is for the best. I honestly can't thank you all enough, I'm so lucky to know each and every one of you. I hope we all remain friends and keep in touch! I'll be back as and when the time is right. ♡ you all xxxxx

A love so deep that even the ocean would be jealous.

I can't believe my baby is 6 months on the 13th! Everyday she amazes me, they really do grow so fast! Love you boo 

♡♡♡

More babies?

So much talk of babies recently - there is definitely a baby boom going on, 2013 has been full of births and pregnancies! 

It's no secret that I didn't want more babies up until recently -  I had a far from great pregnancy, labour and delivery and I certainly did not want to go through any of that again. Also with Orlaith being how she was, I definitely did not want to experience that a second time round. I would have been happy with one child.  It's no secret that I now want more babies, I've always loved babies and the older ones too, and would go as far to say I'm quite a natural with children but now I definitely would like to add to the brood. 

I think deep down it's simply because I miss being pregnant, I adored the pregnancy excuse! I definitely had my hard times whilst pregnant (what pregnant women doesn't?!) but I just loved feeling connected with my child and feeling her move around; such a surreal feeling that I wish everyone could experience at some point in their lives. I am no longer contented on having just one child, I want Orlaith to experience siblings and have that closeness of a family like I had growing up; but I am 100% contented with her, so if she is all I'll ever get then I'll die a happy lady!

Here's the hard part, although it's "a very slim" chance of having another HI baby - statistically one in four - would I willingly put myself up for that this time round, knowing exactly what could be in store? I posted an article earlier on today (living with hyperinsulinism - for those who haven't seen it), of an amazing family who have two children with hyperinsulinism; I'm actually speechless at the courage of this family, hats off to them! It really is inspiring. It's an interesting read for you HI mummies as I know it's something we all have to consider at some point in your lives. 

So who knows, maybe next year ;)

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

♡♡♡

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. 

♡♡♡