For our 40th anniversary this year, we have decided to have a 'Fundraiser of the Month' throughout the year. This month, we have Anthony Wright, who will be taking on the London Marathon later this year to raise funds for his sister-in-law who has Fabry disease. He shares their story below.
“Back in November 2019, my sister-in-law Katie was diagnosed with Fabry disease at the age of seven. Katie was at a routine optician’s appointment when they noticed cloudiness in her eyes. She had also been suffering from headaches for a long time which is not normal for a young child.
Luckily the optician had recently read about a rare disease (which we now know to be Fabry) but had never actually seen it and requested Katie be tested for it. Katie’s mum, Kathryn, went home and researched Fabry disease. It was a big shock for all of us when Katie’s test came back positive.
Following her diagnosis, the rest of the family was tested as we were told it was genetic and surprisingly, the results came back negative. This meant Katie’s Fabry was a spontaneous mutation, meaning she’s the first in the family to be diagnosed.
Over the last few years, Katie has had regular check-ups at Manchester Children’s Hospital and the team have provided her with lots of useful information about the disease.
Katie is moving up to high school this year and has been made aware that her treatment plan will need to start at roughly the same time. Currently, the only treatment is tablets and enzyme replacement therapy via transfusion. This involves Katie going to hospital once a week maybe fortnightly, whilst there the transfusion will take between 4-6 hours to be fully administered.
As Katie is growing up, her mum Kathryn knows that she needs treatment, but she says “no-one teaches you as a parent how to manage all of this and how to communicate it all to your child. However, I always feel comfort that I can ring the doctors at Manchester Children’s Hospital.”
Katie currently plays football 2-3 times a week which causes her significant pain, but it’s her dream to play football so she won’t stop. Currently, there is no cure for Fabry, but hopefully one day there will be.
I have chosen to raise money for the MPS Society (which funds and spread awareness about Fabry and other related diseases) by running my first ever marathon – the London Marathon on 2nd October. It’s going to be the hardest thing I’ve ever done in my life, but it will be nothing compared to what Katie is going to go through for the foreseeable future.”
The pictures are of Katie with her best friend Minho and Anthony and his wife with his brother and sisters-in-law.
At the MPS Society, we’d like to say a huge thank you to Anthony and his family for their support!
Written by Rhia Arden
If you would like to sponsor Anthony in the London Marathon, please click here.
If you are interested in donating to the MPS Society, please click here.