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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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.

• Find out more about Samuel’s condition ARX