Charlie’s story

By Anna, Complex hereditary spastic paraplegia, United Kingdom, September 24, 2018

Sugar smiles

As a small child there was always something different about Charlie, he never made friends - was constantly being bullied. I was back and forth to the doctors telling them I thought he might be autistic, I was constantly met with "that’s within the normal bounds for a child’s behaviour or perhaps you should try parenting classes." I now know these were the early signs that something was dreadfully wrong as a parent don’t assume the doctors are the expert you know your child.   

As Charlie approached his teenage hormonal stage he became very violet - I was constantly at school begging for help and was constantly told he’s fine at school it must be a problem at home. I battled through and in return my pleasant boy returned.  

In 2016 whilst on holiday we noticed that Charlie couldn’t walk in flip flops and by the September he was falling over regularly - we were back and forth to the doctors who assured us he had a clicky hip and that’s what caused it.  By the December Charlie’s school had noticed that he couldn’t find names or commonly used words and that his speech was slurred so they too wrote to the GP with concerns - again we were told it was nothing to worry about. 

Charlie was obsessed with the film 'Me Before You' and one day in April 2017 after he had briefly lost the ability to walk he asked me if he was going to die - he was 15 how was I supposed to answer that - I just said I don’t know dude but we all die eventually- you aren’t going today and that’s all we need to worry about - he then said something that will haunt me forever - if I become like the man in 'Me Before You' I want to go to Switzerland - I still cry when I think of that day, he was so terrified.  

I’m lucky that my step sister is a consultant and she drove down from Glasgow and took us to the hospital refusing to leave until he’d had a neurological assessment.  

It showed that he had a deterioration in the white matter in his brain

The Wednesday before Easter he was originally diagnosed with leukodystrophy and for the next few months we had to wait for the genetics tests to be completed - I got the call while we were registering Charlie at college the same day as my daughters 10th birthday 03/09/2017 the official diagnosis was JB he had hereditary spastic paraplegia - initially I was flooded with relief, that’s not so bad he might just have a limp - except that didn’t fit with the slurred speech, the loss of memory - then I started researching - I determined he probably had HSP SPG 11 - by the time we saw the neurologist I knew more about the condition than he did..... the complex version of this disease is so rare there are only a handful of people world wide with it.  The future is uncertain and our days are unpredictable but my boy is a rare gem - he’s the most loving 17 year old who holds on to the innocence of a small child - I will always be his whole world and he will always light up everyday - even the days his dementia symptoms make him swear at me.  

Find others with Hereditary spastic paraplegia on Rare Connect, the online platform for people affected by rare disease.

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