Sal here. Hope you haven’t melted if you’re here in the UK!
Since we want this blog to be a project for all of us, this post is all about Pearl. Pearl Hazel, little sis with the sparkly eyes, button nose and contagious laugh. We thought we’d use this post to introduce her and answer some of the questions we often recieve! One thing I’ll stress right away is that she might be ill, but Pearl’s illness in no way defines her, and that’s the take-away message of this post. Sorry in advance if this finished post embarrasses you P, it’s just I really am so happy you’re my sister.
Pearl lives with a super rare genetic condition called Sotos or Weaver Syndrome. I say “lives with” rather than “suffers from”, because you wouldn’t know she suffers; she handles her illness with total grace and maturity. The distinction between the two syndromes is so minute that doctors have not deductively told us which one she has. Chances are you’ve never heard of it; neither had we, and neither had her peadiatricians for that matter. It’s currently believed to affect less than 1 in a million people, and as far as we know, there is only one other sufferer in the UK besides Pearl herself. In fact, only around 50 individuals have ever been documented with the condition in medical literature! Trust her to absolutely baffle peadiatricians from here to Canada, hey. Additionally, she has suffered unexplained brain damage and tests have shown two spaces on her brain, meaning that she is unable to walk unassisted. But she’s had various surgeries to reconstruct her feet and loosen her leg muscles, so whereas at aged six she was still crawling, she can now walk short distances using her walking frame.
She’s fiercly intelligent, optimistic and determined. Basically smashing life in every way and showing us all how it’s done. Over to P.
What advice would you give to other children with rare diseases?
Don’t waste time thinking about what you can’t do, it’s an insult to yourself. Instead, think about what you can do, and make it your mission to find something you love. Learning to knit (in my case through YouTube and my Nan), was the best thing my illness has brought me. I love anything crafty despite having pretty bad motor skills and very clumsy hands as a result. It just means more practise, but it hasn’t held me back and I feel even more accomplished knowing the hurdles I’ve overcome. I would remind you to go outside. I spend a lot of time in bed since I have extreme exhaustion, but I force myself to sit outside at some point every day, even if I’m too tired to walk.
What is it like navigating secondary school in a wheelchair?
It’s not bad, since everyone at my school is pretty kind and understanding (except when I accidentally run over their toes, which does happen). My friends tease me about what a bad driver I am. I’m one of just three wheelchair users in a pretty huge school, but it has never really bothered me! I recently got the speed of my wheelchair increased, and I can zip around quite quickly. When I started year seven I had to have a teaching assistant with me at all times, but more recently I’m free at both breaktimes and lunchtimes, which makes me feel so much more independent.
How do you deal with all the hospital appointments and procedures?
I’m so lucky that I recieve most of my treatment at Bristol Children’s hospital, and as far as hospitals go, it’s really great. It’s colourful and welcoming, and the nurses are all so lovely which makes the whole process bearable. Mum and Sal have a long term crush on my lead consultant too. I always take a bag filled with magazines to read, knitting and lots of snacks since hospital food can be a bit dodgy. Sal has been coming with me to appointments, x-rays, operations and everything else for at least eight years, since she can talk me around my phobia of needles and medicines. Yuck. We don’t get bored when we are together.
Who inspires you?
Grace! The best friend I could ask for. She introduced me to take up knitting, and at the moment we are working on lots of woolen hats and blankets which we are excited to donate to neonatal units. If you can think of any other charities or good causes we can knit for, please let me know below!
Lastly, here are some resources just in case you want to find out more about Weaver and Sotos Syndrome (although information is scarce!):
You can also leave questions for Pearl below and she’ll get back to you, or let her know what else you’d like to hear from her in future blog posts!
Sal and Pearl x