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