Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

Izzy

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As a parent her diagnosis destroyed me and it still does every day... You’ve got to dust yourself down and think ok we can either let this destroy us or we can live as best a life as we can and that’s what we decided to do.

Izzy has Pitt-Hopkins syndrome, she’s 8 years old and was diagnosed just before her 2nd birthday.  Initially when she was born we didn’t think there was any problems with her but then as she became a little bit older, towards her 1st birthday, it was as if sometimes she was a bit vague and the lights were on but nobody was home.  She wasn’t quite understanding things as her brother did.  I took her to the paediatrician and he felt that there was a slight developmental delay but I think at that point that I knew there was something a bit more than that.

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Typically people with Pitt Hopkins syndrome have global developmental delay, absence of speech and they can have dysmorphic features like a wide nose, deep set eyes and low set ears.  Izzy also has problems with her balance.  Quite often children with the condition have seizures, hyperventilation and apnea but luckily at the moment Izzy doesn’t have those symptoms. 
The blood test for Pitt-Hopkins has only been around since 2007, so there are very few children or young adults diagnosed with Pitt-Hopkins.  We’re sure there are probably more out there but because the blood test is so new the numbers are relatively low.

Izzy is a beautiful little girl and she’s very happy, most of the time.  She can get quite anxious and frightened about things as I think she has a lot of sensory processing problems.  The biggest challenge she has is communication.  What I wouldn’t give to have a conversation with her.  I know what she wants most of the time and she makes herself understood.  She loves life.  She’s luckily, blissfully unaware of the challenges that she faces and that’s a good thing for her really.

As a parent her diagnosis destroyed me and it still does every day.  There was a time when we were in a very bad place, but you’ve got to dust yourself down and think ok we can either let this destroy us or we can live as best a life as we can and that’s what we decided to do.  We make the best of it every day and make the most of her life.

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Having an ultra rare condition makes everything that bit more difficult.  If you go for any sort of medical help, whether it be therapists or doctors, usually we end up as the specialists.  I’m involved in Pitt-Hopkins UK and we all try and support one another.

Awareness is really important.  Life’s not perfect, everybody’s different and I try and instil that into my son as well.  He asks me sometimes, why does my sister do this, why does my sister do that, and I try to explain to him that everybody’s different.  Difference is good, that’s what makes us ourselves and are individual people.    

It can be very difficult for siblings.  I had the children very close together because I wanted them to be strong brothers and sisters.  The plan did work and didn’t work, obviously they’ve still got each other, I know that, but it’s an awful lot of responsibility for Thomas.  He’s only 21 months older than her but I feel he’s had to grow up slightly quicker than I’d have liked him to. 

For more information or support please visit www.pithopkins.org.uk.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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