IZZY
“Izzy is a beautiful little girl - she loves life”.
“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, as if 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 at that point I knew there was something a bit more than that”.
“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’- that’s what we decided to do”
“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; 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’- that’s what we decided to do. We make the best of it every-day and make the most of her life”.
“Difference is good, that’s what makes us the people we are”
“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.
It can also be very difficult for siblings. I had the children very close together because I wanted them to be strong brothers and sisters. That plan worked and it didn’t - 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”.
“Life’s not perfect, everybody’s different and I try and instill 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 the people we are”.
FIND OUT MORE
Pitt-Hopkins Syndrome
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial features. As more is learnt about Pitt Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety and ADHD, and sensory disorders.
To find out more about Pitt-Hopkins Syndrome, click here.
Pitt-Hopkins UK
In May 2016, Pitt Hopkins UK became a registered charity with the Charity Commission (no. 1167153).
Pitt Hopkins UK aims to raise awareness of Pitt-Hopkins Syndrome, particularly among the health professionals, to support and advocate for families while delivering the latest information about Pitt-Hopkins syndrome. Pitt Hopkins UK also hopes to be able to fund some research one day particularly into the breathing anomalies that many of the children and adults exhibit and into the dysfunctional autonomic system that affects many of the children in different ways.
Find out more about Pitt-Hopkins UK by clicking here.
To access the Pitt-Hopkins UK Facebook page, click here.
Pitt-Hopkins UK App
Pitt-Hopkins also has an app to make accessing information and support even easier. Download the app via your smartphone or to learn more, visit the webpage on the Pitt-Hopkins UK website by clicking here.
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