Words by Smiley Team
Three families have come together to run a foundation to raise awareness and seek a cure for the rare genetic disorder that their children have.
Michelle, Amy and Ali are the mums of Sofia, Frankie and Aggie, all of whom have H-ABC, a leukodystrophy – a faulty gene in the white matter of the brain, preventing messages from going through.
Eight years ago, when Aggie’s family were told she had a rare and degenerative disease for which there was no cure, they felt utterly alone and lost.
“There was nothing else they could tell us. I really struggled to even look into it any further because it was so tough to comprehend," says Aggie’s mum Ali.
“It is incredibly isolating when you are diagnosed with a rare disease because there is no support network. You are literally left to it.”
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Ali’s sister had been doing lots of research into Aggie’s condition when she stumbled across Michelle and Amy, who’s children also had H-ABC.
When Aggie was diagnosed, Ali was told that there were only 44 known cases of H-ABC in the entire world. Suddenly, she had found two other children within an hour’s drive in England
The three parents decided to set up the H-ABC foundation, hoping to raise awareness and ultimately help to fund research in Philadelphia to develop a cure.
Suddenly both Ali and Aggie had a support network of people who understood the impossible, and soon more families across the world came across the foundation.
Aggie has now lost the ability to walk or to communicate, and her fine motor skills, but never complains.
“She is the most unbelievable little girl, she never complains and she always has a smile on her face," says Ali. "We always say to her to ask if she has any questions but she just gets on with it."
Doctors at the Children's Hospital of Philadelphia are hopeful that their research will soon lead to the discovery of a cure with the aid of gene therapy.
They need around £4 million to conduct the necessary human trials, and the H-ABC Foundation are helping them to reach that goal.
One individual, Darren Hardy, stumbled across the foundation and was moved to help by fundraising through taking part in extreme challenges.
Last year, Darren ran 5 marathons in 50 hours to raise money for the charity, and this year he is running 10 in 100 hours beginning April 6th, and has already raised £27,649.
“It’s just about raising money for us to push this forward faster because we just don’t have the time. These kids don’t have the time, and it’s all ultimately down to money," Ali says.
“Just knowing there is hope out there really gets you out of bed in the morning. Our kids have been pioneers raising awareness and pushing this forward. And I truly believe we will get there eventually.”
DONATE: To donate to Darren’s marathon fundraising challenge, visit his JustGiving page.
SUPPORT: To read more about H-ABC and the H-ABC Foundation, or to donate directly to the charity, visit their website.
