Rare – It’s all about perspective

I’m at a disability exhibition for SWAN UK, chatting to parents and professionals, spreading the word…. According to us! We are a relatively small group

of families that suddenly find they’re in a world the never expected. I think we all consider when we’re expecting a child that we could have one with special needs or a disability. But to then find that you don’t know what’s causing their problems, well you don’t expect that. The reality is that not only are we in this minority, we are a minority within that minority.

Someone says to me “Wow that’s really rare isn’t it?”

Well it is, until it’s you. And then not only is it the norm for you but you discover it’s the norm for lots of families.

I’m not sure what I would consider rare to be now.   Jacob has been tested for a lot of what I would have considered rare conditions. Angelman Syndrome 1 in 12 – 20 000 thousand Smith-Magenis 1 in 15 – 25 000 and they’re all negative. And because of Jacob I know 3 children with Angelman Syndrome so to me it’s not that rare!

I’m sometimes asked if I knew Jacob was going to be the way he was whilst I was pregnant. No is the short answer, in fact we didn’t know for sure until he was 15 months old. I think, but I can’t be sure, that this question actually means would you have terminated the pregnancy if you’d known? Well no I wouldn’t.

Sometimes I’m asked if I had all the prenatal tests, and no again is the answer. But I think people then think that’s why we didn’t know. I explain that we have since had all those tests and more and they’re all negative. So yes, that’s right, there’s no way of knowing you’re having a child like ours. Mums usually look shocked by this, cos that’s right, it could have happened to them, and they wouldn’t have known or had a choice. There’ nothing that singles us out for this role. And the phrase “special kids are given to special parents cos they can cope” is nonsense. We just cope the best we can just like any other parent. Nothing sets us apart in the beginning, we grow into the role from having to. We become copers and special out of necessity.   And actually we don’t’ cope all of the time. To all mainstream parents who say “I don’t know how you do it, I couldn’t cope with all that” it’s amazing what you can do when choice is taken away from you.

I was offered the AFP test at 16 weeks pregnancy. You know the one that gives you a ratio risk of having a child with down’s syndrome or spina bifida ? We really didn’t see the point. I wasn’t going to have amniocentesis because of the small risk of miscarriage. And anyway I was already pregnant and wanted that baby, no matter what. The irony is that I clearly remember talking about it with a colleague who was just back from maternity leave. I didn’t know why screening for just these two conditions was so important and as she said you could have a child much more several effected with something else!

So, here we are with a beautiful child that is effected by some random genetic condition that possibly no one has seen before, with all the usual tests that would have been done prenatally being normal, countless other tests and chromosomal screening all normal and now on a study waiting for an exome sequence to possibly explain his problems.

Rare is just a matter of where you’re looking at it from. If you’re that one in a million then it’s every day for you. One person’s Rare is another ones mainstream!


2 thoughts on “Rare – It’s all about perspective

  1. Wow! Great post. You’ve summed up how I feel! I had no idea my daughter had a rare disease when I was pregnant. And I’m glad too because it wouldn’t have changed a single thing. A series of events at birth led to her low blood sugar being treated and from there got her diagnosis of congenital hyperinsulinism (1:50,000) and from that we discovered she also has Beckwith Weidemann syndrome (also 1:50,000) although the 2 are connected they are both super rare!! But now I have met other mums with kids with the same and it doesn’t feel so isolating at all 🙂
    We’re in the UK and as chance would have it there is another baby in the next town along with the same condition as my daughter!
    Anyway, enjoyed reading your post xx


    • Thank you for your comments and follow. this blogging thing is new to me but I’ve got a couple rolling around my head so there’ll be another soon. Lovely to hear about your daughter 1; 50,000 … it’s ridiculous isn’t it! I’m really pleased you’ve found another family close by. thanks again xx

      Liked by 1 person

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