The Celebrity of Disability

As I’ve mentioned in previous posts I was born with Holt-Oram Syndrome.  I run an online support group for people with the condition.  It’s a rare condition affecting approximately 1 in 100000 individuals.  It’s genetic and is caused by a mutation of the TBX5 gene.  I didn’t inherit HOS, my TBX5 gene mutated all on it’s own but there is a 50% chance that I will pass the condition on to any children I have.  This makes it feel like a particularly cruel twist of fate that my perfect little boy, who didn’t have any signs of HOS, died during delivery.

HOS, also known as heart-hand syndrome, is a condition which has a lot of different permutations. People with HOS often have upper limb growth abnormalities which can range from being very minor to having parts of arms / fingers / thumbs missing. Often the collar bone is also quite small. In about 75% of cases the heart is also affected, this can be in a variety of ways, ranging from normal function to VSD / ASD, conduction disorders, holes in the heart etc.

For me HOS means I have short arms.  My left arm is very short, my right arm is probably about 3/4 the length it should be.  I have three fingers on my left hand and four on the right.  I don’t have thumbs, my right wrist is fused, my shoulders are permanently dislocated, my collar bone is short making my shoulders narrow.  My back and hips hurt most of the time because I’m constantly having to bend and stretch to reach things.  I have a slight cardiac conduction disorder and pulmonary stenosis. That sounds awful when it’s all written down but actually it’s fine.  I can never quite work out how people manage with so many fingers and thumbs getting in the way.  I have small hands, I tend to wear gloves that are age 4-5 although the extra fingers are comical.  My hands do everything I need them to do.  Very occasionally I do think it would be nice to have a thumb, particularly when someone gives you a thumbs up and there is no adequate response.  Putting a finger up in response isn’t really the same.

I’m a primary school teacher and the children accept my differences really well.  They’re interested in my arms and ask me questions, even at four years old they offer me help when they think I’m struggling.  I love the openness with which they approach my differences.  That doesn’t mean I’d feel the same towards an adult who asked “why do you have baby arms?” as children in my class have been known to do, sometimes after almost a year of being in my class!  I do love the fact that they aren’t embarrassed by it though.

One of the issues with being a mutant (yes, I said mutant.  I’m much happier with the term mutant than disabled.  Disabled suggests I’ve been switched off or have had something removed so that I no longer work.  Mutant suggests I have different genes and there’s something special about me which I modestly think is much closer to the truth!) is that you get recognised.  People don’t forget ‘that girl with short arms’ in a hurry.  I’m pretty good at remembering names and faces but it’s still embarrassing the number of times people know who I am when I have no recollection of them.  Sometimes this happens because the stranger calling out my name knew my mum when I was 4 or met me once and was briefly introduced.  Usually they wouldn’t remember someone that they had met so briefly or so long ago but I have this stand out feature, my USP that makes me tricky to forget or to confuse with someone else.  

Another problem can be the feeling of being on show.  Since Lentil died I’ve been feeling quite self-conscious.  I’m aware that I still weigh over a stone more than I usually would.   I still have a bump, although my husband lovingly tells me that I look more like I’ve had too much beer than I’m pregnant which I suppose is a good thing?!  When we went to the zoo the other day there were several times when I felt like I was on the wrong side of the cage.  At one point a mother was trying to show her daughter a Lynx but the little girl just resolutely stared at me instead.  Most days I’d be quite pleased to be deemed more exciting than a big cat but not that day.  

I appreciate that I look different, a real life mutant is a pretty exciting thing to see!  But some days, when leaving the house has been hard enough on it’s own, the cynic in me would like to be wearing this badge: 

I live in a small town, everyone recognises me even if they don’t know my name and they all know I was pregnant.  When you’re 5’3″ and carrying a baby that’s 59cm long inside you people tend to notice!  Usually I love the fact that people know me and remember me but it makes life hard on days when you’d prefer to remain unseen.  Maybe I should be grateful that I can’t hide in the shadows.  There are people who I’m sure feel like they’re never seen or noticed by anyone and that must be awful but just occasionally I’d like a day off from this particular brand of celebrity.

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