Uncle Midaz

Midazolam has been in our lives since the early days. It has become a very important part of our armoury in the battle against Samuel’s seizures. It is his emergency drug.

The protocol of when to give Midazolam to Samuel is if he’s had a seizure lasting more than 10 minutes or if he’s had a cluster of four or five short ones in half an hour. It is only given for full on focal seizures and not his general twitching.

In the very early days, Samuel had Midazolam a lot. On average he’d have about five doses A DAY! There wasn’t really a clear protocol at that time so he was given it almost as soon as he’d seizure. Problem was, Samuel would seizure a lot and medical staff are trained to zap seizure activity immediately! But the neurologist stepped in and changed the rules. She made us and his hospital team wait. It was hard. I’d be there holding my boy who’d been having a seizure for 8 long minutes and I wasn’t giving him anything. But it worked. It showed us all that more often that not, Samuel will self resolve after about 10 minutes and then be fine.

When the going is good and things are quite balanced, Samuel on average has Midazolam about once every two weeks. Although when the Ketogenic Diet was at it’s best he went without it for about 60 days!

Midazolam is the only thing Samuel has orally. It is squirted into his cheek and absorbed that way. After Samuel has been given it, he can take a bit of time to wind down. Sometimes he will even have another seizure after he’s had it. But then he eventually calms down and relaxes and usually goes off to sleep for about three hours.

Giving Midazolam is at last much easier after the introduction of pre-filled syringes. Before, Midazolam came in a little brown bottle and you would have to push the syringe through the stopper to draw up the Midazolam. This wasn’t always as simple as it sounds. There was always a big label over the bottle making it awkward to see what you were doing, if you’d already used the bottle a couple of times and the liquid was getting low, you’d have to angle the bottle a certain way to ensure you got enough in your syringe. Then you have the problem of air bubbles. When drawing up a medicine, you have to get rid of air bubbles as where air bubbles are, medicine isn’t. Don’t forget this is an emergency medicine. You are trying to do all this as quickly as possible too!

So at last we have pre-filled syringes. All you do is remove the seal of the tube, take out the syringe, break off the tab and it’s all ready to give.

We have a bit of a love & hate relationship with Midazolam. We love the effect it has. How it works. How it stops what is happening. But we hate it too. We hate having to give it. We hate what it symbolises…that Samuel’s had a bad patch.

But the relief you feel when you’ve been watching Samuel seizure for over 10 minutes and then suddenly he stops, relaxes and yawns and goes off to sleep. All is calm. Samuel is safe and content once more. That is why Uncle Midaz is a very important part of Team Sam.

Celebrate: The ultimate milestone

Under ‘normal’ circumstances (whatever that may be), in my 17 months career so far as a Mum, I’d have noted and celebrated Samuel’s milestones. When he said his first word and what it was, the first time he laughed, when he started to roll over, crawl, walk, when we started getting him onto solids and so on.

But these are milestones that we have never reached and may never do. But I think Samuel has reached milestones that beat all these.

Milestone 1 – Coming home from NICU. We were warned that it might never happen. We might never be able to take him home because we’d either lose him to his seizures or he’d be so heavily sedated, he’d have to stay in hospital indefinitely.

Milestone 2 – First birthday. Something we felt we could only dream of reaching. And we did and had a fantastic family birthday party.

Milestone 3 – Christmas. Samuel spent his first Christmas in hospital, but he spent his second at home with us and it was absolutely wonderful.

Milestone 4 – Our one year anniversary of being home from NICU.

Milestone 5 – Beating the genetics prognosis. Last April (2011), we were told that it was very likely that we would only have Samuel for months. His condition would deteriorate and finally beat him. Beat us. That was a year ago and look at him now. His neurologist has said herself how impressed she is with how well he is doing. Since we’ve been home from NICU we have only had one emergency admission. I think this is the ultimate milestone and Samuel has reached it with bells on.

My brave little solder. Still here, still fighting, still gorgeous.

Team Sam. x

This post is part of the Celebrate Blogging Challenge. This world of special needs and disabilities has many rocky roads, we will find ourselves on many rollercoasters along the way. But, there are a lot of positives. Through our adventures so far, we have met a lot of amazing, supportive people. It has made us stronger. We have learned to look at the world through new, wider eyes and find ourselves celebrating what to others may seem such a small achievement but to us, it’s the world. It’s a tough world, but there is so much to celebrate. Our children. So please join me each week and post about what there is to celebrate in your world during the past week. I’m looking forward to reading your posts and celebrating with you.

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Diagnosis – what’s in a name?

Samuel got his official diagnosis last April (2011). We were told he had ARX. But we’d already suspected that would be the case because his neurologist (who I continue to be in awe of) suspected that this is what he had and was keen to have him tested for it, so it came as no big surprise.

So we have a label, a name. I’ve been thinking lately if having that diagnosis, you  know, being able to read about ARX, has actually made much of a difference to us and I’m not sure it has. From MRI scans we already knew what his brain looked like. We already knew his seizures were severe and hard to control. We already anticipated that he would have some kind of development delay. I suppose for some people and their parents it’s like putting the bits of the jigsaw puzzle together to be able to understand what they are dealing with.

At Samuel’s diagnosis meeting last Spring we discussed prognosis (ie life expectancy). The genetics doctor told us that it was very difficult to be precise of course and it would take a brave and bold doctor to start talking actual numbers with parents. But then my husband asked if it was months. Did we have only months with Samuel? And her answer? She said yes. That was almost a year ago. The neurologist, who was unfortunately not at that meeting, said later that with Samuel’s condition being so rare, it is extremely difficult to be so definite. There are only a small number of children known to have had ARX in this country, so they are basing their information on such a small number of case studies (plus Samuel has a rare mutation of the (rare) condition). I gather the stats are that 1 in 400,000 babies are born with ARX. So that didn’t help us at all.

It makes form filling a bit easier. We actually have something to fill in the box when asked about the condition. But no one has heard of ARX, so we have to explain in some detail what it actually means.

I know for some parents and I’m sure the individuals themselves, having a diagnosis will at least be that missing part of the jigsaw. Instead of having to just explain the child’s symptoms they can actually give a name. But for us, we tell people that Samuel has ARX but then have to give the symptoms as no one has heard of it! I always wonder if life would be that little simpler if Samuel had an ‘off the shelf’ condition. Something that people have heard of, seen on the TV and have a vague understanding of.

Despite our experiences, I do believe that a diagnosis can be such a positive thing. Last week I was encouraging a close relative to refer her child to be assessed as suspicions are that the child maybe on the autistic spectrum and if that is confirmed at least their parents and school will be better informed about how they can help them.

But for our Samuel, well he is still here, battling away each day. He’s surprised all the doctors with just how well he is doing. Since we came home from NICU last January (2011) we have only had one emergency admission and Samuel seems to otherwise be quite a healthy boy.

The important message to all parents seeking the golden chalice of diagnosis is when you get it, don’t let it define the child. Because Samuel may have ARX but that boy is making up his own rules.

I would be really interested to hear your views and experiences of the difference of having, or not having a diagnosis and what it has meant for your family.

UPDATED: Since publishing this post, we’ve had an appointment with the genetics consultant to talk about our options for future pregnancies. I talked about the appointment in Is the impossible, possible? and talked about the options we’ve been given from taking on a dangerous gamble and conceive naturally, have IVF PGD or be on the receiving end of egg donation. The genetic doctors are able to tell me the likelihood of having more children with ARX what our risks are because we have a diagnosis. We have something that the guys in the lab can work with. Since Samuel’s diagnosis they were able to find out if I was a carrier which means we can make decisions about future pregnancies. We know how to not pass this on again. That’s what a diagnosis has done for us. It has stopped us passing on this dreadful condition. It ends here with Sam and I.

Hayley from the blog SwanFreddie has also written a post about diagnosis and why it is important to her family, so please do pop over and have a read. Eric from Pressure Support has also done his usual thing and written a fantastic post about his son Liam’s diagnosis. Definitely worth a read.

• Find out more about Samuel’s condition ARX

Oh reflux!

I’ve been meaning to tell you that the doctors think that Samuel might (they don’t know for definite) have reflux.

When Samuel was in hospital in November the nurses noticed that he was arching his back (which he does sometimes when he’s a bit twitchy or sometimes when he’s having a seizure) and said that could be due to reflux.

Then a few weeks later when we had an appointment with the paeditrician and neurologist (who I adore and think are amazing) I mentioned the suggestion of reflux and both doctors said that Samuel probably has it as due to his epilepsy and disabilities he is a prime candidate for it (I can just see all you parents there nodding because you already know that). Samuel is over a year old and the doctors have never said that before. When we’ve been asked routinely by other professionals if he had reflux we’ve always said no as he’s never really dramatically vomited. When I put this to the doctors they said that he is probably swallowing the vomit back down (I have smelt his formula on his breath now and again). Right. Couldn’t we have been told this before? We are quite new to all this (and not just disabilities, we are first-time parents after all).

Anyway, he has medicine for it. We’ve now got to add infant Gaviscon to some of his feeds and give him Lansoprazole an hour before his first day feed. So the poor boy has even more stuff swishing about inside him.

I can’t tell you whether the medicine has helped him as it is impossible to tell, I mean we don’t exactly know whether he does actually have reflux. But at least he has it now if he does need it. He’s just had a wait a year for it.