United front

Samuel’s Dad and I are often told that we are very brave and strong with how we deal with Samuel and his condition. We aren’t really. We are just like any other parents. If you are a parent reading this, wouldn’t you do everything for your child? Wouldn’t you fight tooth and nail for them? Just because you don’t see me in tears, doesn’t mean I don’t, we don’t, have dark moments.

But together, as a couple, as Samuel’s parents, we are very strong. We have been together a long time, for about thirteen years actually. We met at university in my first year (we were flatmates) and that was that. We’ve always spent an enormous amount of time together. At the risk of sounding cheesy, we like each others company, we know each other so well it’s just so easy to be together. In some ways we are really quite alike, but then our differences make it work too.

I think I find our ‘situation’ easer to deal with than Sam’s Dad because it is my life 24/7. Whereas he has a busy, demanding job, Samuel is my job. My whole day (and night) is about him. I go to every appointment, meet every specialist and have to discuss Samuel’s condition weekly, sometimes daily. Very early on I got use to explaining ARX to people. I got use to having to tell people that Samuel has global development delay and is just like a very little baby. I also got use to being around fine and healthy children. ‘Normal’ children. Most of my friends have children now. Being at home all the time, I see them quite a lot and spend a lot of time playing with and admiring their little ones. There are times when it kicks me in the gut, you know, that feeling that Samuel will never do some of the basic things they can do. When they say ‘Mummy’ and ‘Daddy’. When they smile and giggle. But I’m ok with it. I accepted it a long time ago. I had to. But Samuel’s Dad doesn’t see our friends children as much, so he still has those moments. He still has that feeling of being kicked in the gut. But I think it’s getting a lot easier for him.

But we are a good team. We have formed our funny little bubble around Samuel and it’s very cosy. If you were a fly on the wall here you’d probably laugh at us. When we listen to music we often change the words to the song to make it about Samuel. We have a wide collection of what you may think are very obscure nicknames for him. We are just crazy for our boy.

I don’t think we could do what we do if our relationship isn’t how it is. Don’t get me wrong, we squabble, we annoy each other, we aren’t perfect. But we never really fall out. We make each other laugh. We hold each other when we cry. We would even give each other our last Rolo (well I might let him have a lick of it!).

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Is the impossible possible?

A while ago I wrote a post called Today I cried. I’d had the realisation that to have more children I would have to go through the process of IVF or adoption. Both filled me with fear. The fear of IVF failing. What if it doesn’t work and I still end up passing on ARX to another child? What if something completely different goes wrong?

Before I’d written that post I’d phoned up the social services department to discuss our options for adopting a child. The conversation was depressing. I realised that because of Sam’s medical problems and needs, the adoption process for us would be very different for us compared to other people and we would have so much to prove.

I wrote that post because I was frightened that we may never have any more children. I felt guilty for having this defect inside me that can scupper our chances of expanding our family. I felt guilty that I wanted to have more children. Samuel is our world. We will always adore him and do everything for him. We will fight tooth and nail for him. All the way. That will NEVER change. But I have this dull ache of guilt in my chest and in my gut that I just can’t shake off.

But today we met with the genetics expert to find out about our options for having a child. For me to carry the child. We hadn’t seen this doctor for a year since she told us about Samuel’s diagnosis and she told us that we would probably only have him for months. So it was nice to show her that he was still here, still fighting. Still gorgeous.

So the doctor went over some of the bits we already knew about ARX but she really shocked me. We were always on the understanding that if we had had a girl they would be like me, just a carrier without symptoms. But either new information has been discovered or she’s done better research, but apparently there would be a 1 in 3 chance a girl could be fine (like me), 1 in 3 chance that the girl could have mild learning difficulties or 1 in 3 chance they could be as severe as Sam. So I in effect could have had learning difficulties or be as limited as Sam with a short life expectancy. That came as quite a shock. As females we have two X chromosomes, well the defect is in one of my X chromosomes, but apparently sometimes the body does you a favour and automatically draws on the good X and squishes the bad one into the corner. Because it is a development gene and I am thankfully ‘developed’, it wont cause me any problems now. How lucky am I?

So we discussed options. I have a 50/50 chance of producing a good egg without defect. I could fall pregnant naturally then at 12 weeks they can do a test which involves taking a sample from the placenta and find out whether we are carrying a child with the ARX gene. Then we would have a choice to terminate the pregnancy if we didn’t want to continue. It is pretty much guaranteed that if we did have a child with ARX they would be as severe as Sam because I’m carrying a severe mutation. This is not an option for us at all. It is too much of a dangerous gamble. I do not want to pass this on to another child but I couldn’t terminate. At 12 weeks? At 12 weeks I saw Samuel on the scan. Not for us.

So the next option is IVF PGD. They take my eggs and by removing a cell, they can identify which are viable and ARX -free. Essentially it is like removing 1/8 of that persons genes. Then they implant (like IVF). There are no guarantees. I may not even produce quality eggs that they can work with. It might be a whole expensive, emotional waste of time. Also, to be able to do it they need a licence for the specific genetic condition and there is a chance that they may not have a licence for ARX. That isn’t a problem, the hospital can get one, but it can take up to a year for the hospital to get it. We would just have to hope that a couple like us, in our situation has already been down that route and triggered the need for that specific licence.

Next option is egg donation. It is IVF again of course. There is a waiting list and there is a country-wide shortage of egg donors, so it won’t happen quickly.

So that’s it. Oh and a few other figures to chuck about. Samuel is the only child in the country they know of with such a severe form of ARX. Samuel is one of only 30 children (past and present) to have been known to have ARX worldwide.

How do we feel? Better now then we did when we left the office because we’ve had the chance to process it all. But we have options. Yes all our options are difficult, long, emotional with no guarantees. But we’ve got to try, haven’t we?

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.

Hate

Hate is a strong word. I think we should only use the word with caution. Really think about what we are saying before we say it. But what I’m about to say I mean with every fibre of my being. I hate ARX and I hate epilepsy.

I hate watching what the seizures do to my beloved, precious boy every single day. The way his body stiffens and twists, how he cries sometimes before, during and after. How his lips briefly go blue. How it can take him such a long time to unravel and to come out of it. The fact that sometimes we have to medicate some of his seizures and in effect sedate him. I hate that we have to put all these medicines into his little body every day.

I hate the fact that I feel relieved and lucky that he breathes independently and is fortunate not to have oxygen or a tracheotomy.

I hate watching him snooze peacefully, then be ripped out of his lovely sleep by a seizure.

I hate the damage the seizures must do to the good parts of his brain. I hate the fact that he has seizures that we cannot see. Seizures going on his brain that don’t show physically.

I hate that his epilepsy has been described by his doctor as ‘off the scale’ and the moment a doctor or nurse unfamiliar with him see Samuel move or twitch, they want to medicate him.

I hate the fact that these seizures don’t give his brain a chance to develop and allow him to develop and grow intellectually.

But despite all this, everyday I feel so full of love for my boy, my husband and the little bubble we seem to have created in which we feel safe and normal. I love looking at my beautiful boy and stroking his hands, squidging his cheeks and just generally admiring his gorgeousness. I love Samuel so very much and no damn epilepsy will ever dampen that.

Slugs, snails and puppy dog tails

I was reading a blog post recently by HonestMum.com about her experiences of ‘boy bashing’ as she put it. Where people, I think usually women, seem keen and relieved to have girls rather than boys.

When I was pregnant a woman at work (who had four daughters) asked me if I’d found out the sex of the baby. I said that I hadn’t. She said that she was so relieved each time to have a girl and didn’t think she’d have had so many children if she’d have had a boy because a boy would have probably put her off more. Why? I didn’t actually ask as I was just so taken aback. And you do hear of people who have several sons but they keep trying for more children because they desperately want a girl. But you don’t really hear of it the other way round where people are desperately trying for a boy. Well I haven’t anyway.

Coincidentally I’d been thinking about writing a post about baby boys. Before I begin I want to make it clear that this isn’t a boys v girls post, or that boys are in any way better. We didn’t mind what flavour baby we had and in fact I have two nieces who we absolutely adore and have never really thought about preferring one to the other. In fact, when we look to the future and hopefully do have another child, I really don’t mind whether it is a girl or a  boy. Just another child to love and care for is all we want.

But now, to me, boys are that little extra bit precious. They are more vulnerable than girls. Why? Well, if Samuel had been a girl he wouldn’t have to go through what he has to go through each day. He would be a ‘normal’ and healthy 16 month old little boy. But Samuel has ARX. This is a defect on the X chromosome and because boys only have one X, they don’t have second one (like us girls do) to back up any defects in the other X. If Samuel had been a girl, he’d more than likely have been a carrier like me, but wouldn’t have to go through any of what he goes through and we wouldn’t know anything about ARX. Not perhaps until we had a second child that was a boy or my daughter went on to have a son who would likely have ARX.

I read an article quite some time ago that said that it tended to be boys that were more likely to have special needs or learning difficulties. I don’t know how much of that is true. Perhaps that’s why people prefer girls because of their own fears about special needs. I don’t know. But for us, that’s why boys are that little extra precious.

What is ARX?

Samuel’s condition is called ARX or Aristaless Related Homeobox. Although his neurologist suspected for quite some time that he had ARX, we got the confirmed diagnosis in April 2011. As with a lot of conditions there is a spectrum, from mild to most severe cases – Sam, unfortunately, is at the most severe end. This is based I think on the severity of his seizures and that they are so hard to treat.

Samuel’s particular form of the condition is called XLAG (an awful name, as is often the case for rare conditions) which stands for x-linked lissencephaly, ambiguous genitalia, absent corpus callosum.

The ARX gene is located on the X-chromosome which is where the name of the condition comes from. All of us have 22 pairs of standard chromosomes and then a final pair that are called our sex chromosomes. Girls have two X chromosomes and boys have one X chromosome with a smaller Y chromosome. The Y chromosome only really contains genes that turn that person into a male, but the X chromosome contains many different genes performing all sorts of functions around the body. Boys are more vulnerable than girls when it comes to changes on the X chromosome, as clearly girls have two copies of all the genes present, whereas boys only have one.

Mutations within the ARX gene in themselves are rare and the phenotype of X-linked lissencephaly with ambiguous genitalia (this is the medical phrase but in Sam’s case it means he has small genitalia and his testes had not descended at birth) is rarer still.

In some genetic documentation we have read, it says that 50% die with the first year. The problem is that the professionals are basing their information on such a small number of case studies and no condition, especially ARX, is particularly ‘textbook’. There are very few case reports in medical literature and although there is a very limited life expectancy in these groups of boys on the more severe end of the spectrum, Samuel’s neurologist has said that they cannot be definitive regarding a life expectancy.

How does it affect Sam? Well Samuel has global development delay. At over a year old he is still very much a little baby and has made no development progress. He cannot support his own neck or head. He has several seizures every day and the number of these can range, depending on whether we are having a good day, from five a day to 15.

He has poor swallow co-ordination (despite swallowing his own saliva, never having needed suction and not drooling) so takes no food orally and is instead fed through a gastrostomy button on his stomach.

Find out more about ARX

 

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Take the rough with the smooth

Well readers, we seem to be having quite a good period at the moment. Very good in fact.

Please don’t get me wrong, Samuel is still having seizures every day. But at the moment he doesn’t seem to be having as many in a day as previously and instead of being quite low, they are quite short and sharp.

We are often asked how many seizures he has in a day and as we don’t keep a log it is an impossible question to answer exactly. But our staple answer is between five and 15. It just depends on what kind of day we are having and often no two days are the same. For no reason, he could have two dramatically different days. It is just the way things are.

When things are going well we average about two weeks in between giving him Buccal Midazolam. Midazolam is his emergency medicine. The dose we give him at the moment is 0.5ml and as it is a buccal medicine you give it orally (the only thing he has orally). You put the syringe into the mouth push it against the inside of the cheek and then squirt. His system absorbs it very quickly, although it can take between five and 10 minutes for him to unravel from the intensity of the seizure and go to sleep.

Samuel’s current emergency plan is that we give him one dose of Midazolam if he’s been having a seizure for over 10 minutes or he has had a cluster (of say about four or five short ones) in half an hour. We can give him two doses in 24 hours but if he needs more than two doses within 24 hours or when he wakes up from the second dose and we are worried we have to take him into hospital. So far we’ve not needed to call an ambulance and only taken him in twice. We have open access at our hospital which means we don’t have to go via A&E, and we can go straight to the children’s assessment ward.

I should mention at this point that an important note on Sam’s emergency plan is cuddles. Yes, it’s true. When he’s having a seizure, giving him a cuddle not only provides him with comfort, we find it can sometimes help to take the edge off the seizure (what the NICU doctors would call containment) and it can also help you feel the seizure. You can feel its intensity and when it starts to slow down.

We often find that Samuel’s worst time is during the evening. Between 7pm and 9pm is what we call the ‘danger zone’ as this is when the level of Sam’s drugs in him has dropped and we are waiting for the evening dose to top him up. He is often extremely unsettled and more likely to have a seizure. BUT over the last few days (possibly the week) he’s said ‘up yours’ to the danger zone and slept through it!

He has been far more settled and we’ve had a lot more settled awake periods which is lovely. Although it is so nice to see him like this, we still have to take one day at a time because although he’s been so good like this recently, it doesn’t mean it will continue. So we enjoy every minute that he’s calm, settled and relaxed and make sure that we remember it as often you can forget what it is like when you hit a really rough patch.

Epilepsy, plus ARX seem to make up their own rules and just when you think ‘yeah, everything is going really, really well’ it pokes you in the eye!

If I was to write a book…

If I was to write a book about Samuel’s story, then probably the first line would be: “Do small penises run in your family?” Now you can’t just read that and leave, you must read on….

As we knew there may be issues with Samuel, as soon as he was born one of the NICU baby doctors came down and examined him. I was left lying there all a mess, obviously a little sore and my husband was outside the room holding my baby. I’d not even held him, barely touched him at that point.

The midwife, Tessa I think her name was, popped out the room for a few minutes then came back and said that everything appeared fine at the moment with the baby, but the baby doctor wasn’t happy to confirm the baby’s sex. I looked at her blankly, but he’s a boy, he’s got a penis, he’s a boy. She smiled awkwardly at me and said that yes, she thinks he’s a boy, after all he did wee on her when he was born, but his genitales are small and she can’t feel any testes.

Samuel’s dad came back in the room with him and I got my first cuddle. We tried some breastfeeding (which wasn’t successful) then I had to waddle to the showers to get myself sorted. When I came back I was really dizzy and was put in a wheelchair to go up to postnatal. Tessa was examining Sam’s bits again and said that she could definitely feel a tube in his penis, “look mum have a feel, there is a tube isn’t there?” Then she looked up at my dear husband and said the words, “Do small penises run in your family do you know?” It would have been funny if it wasn’t so bizarre.

Sam’s dad didn’t know what to say, so I said that he was fine, a very normal size but how would he know about his brother and dad – hardly something they would talk about!

So we were shuffled off to postnatal very confused. Then the head of NICU arrived, Dr K, (we’d met him in the last week of the pregnancy) and examined Sam and studied his bits and had a feel about. He decided to send Sam for an abdomen scan to see about his testes and if there was anything there that shouldn’t be. Then Dr K said that perhaps when we tell people that the baby was born we could not mention the gender, just to be on the safe side. I looked at him blankly. I looked at Sam, who to me did actually look like a boy, just with slightly smaller bits.

So he had the scan. His dad went with him and saw the scan for himself. After seeing the scan he was very confident that yes, Sam was a boy. There were no signs of anything else (ie girls internal bits) and there was a blur where the testes were – they just hadn’t dropped. So when they came back to postnatal we made the phone calls telling our parents of Sam’s arrival. The Grandparents couldn’t understand why we had taken so long to call them and we didn’t really want to go into it. Because it wasn’t over.

Dr K said that they still wouldn’t confirm the sex until they had results of a chromosome test. Fantastic.

About 10 days later we got the result back. Sam was a boy.

It turns out that the slightly smaller genitales is part of his condition, ARX, but it doesn’t affect him really and surgery has brought down his testes. Having been peed on a number of times, we can say that everything works fine!

The first post

I am mum to the most special and beautiful boy in the world, Samuel Luke, who was born on 10 Nov 2010. He is the most beautiful baby I’ve seen in my whole life. He has the most amazing blue eyes and the most riduclously long eyelashes any woman would be proud of. My son has an extremely rare genetic disorder called ARX which causes severe epilepsy. Sam spent the first two months of his life in Neonatal Intensive Care, cared for by the amazing doctors and nurses who we owe so much to. He continues to have seizures every day but they are much better than what they were. He is still very much a baby baby, but boy, he does love his cuddles. That’s when you know he is happy when he is having a good long cuddle.Because of his condition, we know that we may not have him for anywhere near as long as we should, that is why we celebrate every day with him. Every day is a beautiful miracle.But if you held him, he may not look at you, but you would feel how much he likes to be cuddled and you would come away realising how much you enjoy cuddles too and perhaps even how much you needed that warmth at that moment.He is our boy Sam. xx