Age 18 | Norfolk, UK
Living with Fabry Disease
“We’re quite lucky with Fabry’s. I know a lot of other sufferers who have it much worse. It’s not a death sentence anymore like it was for my dad." - Vicki
“Since having the twins, this is the is the best I’ve ever felt,” exclaims Vicki from her home in the countryside of Norfolk, UK. “I’m now training to be a fitness instructor.” Being a full-time mom isn’t enough for Vicki despite now having four kids to watch; she’d like to share her strength with others. “I’m not fatigued and I’ve got lots of energy now, and I love exercising—because I can do that, and I can keep up with others, and I’m the fittest I’ve been in my life—I want to help other people get to that level.”
Yet, unlike most people Vicki has had to struggle especially hard, both physically and mentally, to ever even consider becoming a trainer. Vicki suffers from a rare genetic condition known as Fabry Disease, which affects as little as one in every 120,000 people on the planet. This means, that “getting fit” isn’t just the normal struggle of working a routine into her life, and eating well, but it involves constant management of a rare condition with a host of unpleasant symptoms.
Managing Fabry is no easy task for an individual sufferer, but Vicki isn’t alone in her household. Three out of her four children also have Fabry including her young twins (names?) and her teenage girl, Adrianna. She inherited the disease from her father, who met an untimely death from Fabry when Vicki was only a child.
Vicki’s father had been suffering from years of pain and illness that no one could really pinpoint. “He got to forty and things were getting really quite bad,” recalls Vicki, “and they realized his kidneys weren’t good at that point.” Renal failure is one of the more severe symptoms of Fabry and with limited treatment options at the time her father’s condition was not improving. “By the time they made the diagnosis, it was too late for him really. He ended up having kidney failure and he died at 41. I was only six then.”
Despite the fact that the gene is X-chromosome linked, the belief at the time was that women would be extremely unlikely to show symptoms of the disease, but just be carriers instead. Thus Vicki and her older sister were told not to worry. “That’s what we were told by the doctors,” says Vicki. “But I was quite often ill as a child and would have really bad pains in my hands and feet—had lots of stomach problems too.” These are tell-tale symptoms of Fabry’s, but she was never tested. Many years later, Vicki had to be persistent to even get the necessary blood tests for diagnosis. “I think if I hadn’t pushed and pushed it and said it myself, it would’ve taken a lot longer to get a proper diagnosis.”
The level of treatment available for Fabry sufferers has grown rapidly since Vicki’s father passed away. Not long after being diagnosed, Vicki was put on Enzyme-Replacement Therapy or ERT. “I didn’t realize there was anything [treatment] for women… that was such a big relief.” Her condition began improving thanks to the ERT, which involves weekly at-home injections of the enzyme.“The infusions are really letting us lead a fuller, less-fatigued life.” Meanwhile, her older sister just recently started experiencing symptoms, but isn’t yet on any ERT.
As a grown adult, adjusting to weekly infusions was an accepted reality for Vicki, but for her daughter Adrianna, these infusions became a source of fear and flight. When the nurse would arrive, Adrianna would regularly escape out her window and run away. “We’d have to go looking for her in the meadow,” Vicki reminisces.
Adrianna experiences symptoms much earlier than other members of her family. “You could tell,” says Adrianna. “I was really skinny and really pale—always looked really ill, and always looked really tired and I couldn’t take part in any activities in school that involved physical movement, because I got so tired.” Her two twins siblings have been luckier. While they have the disease, they have yet to show consistent symptoms, and thus aren’t on any form of medicine yet. “I guess the earlier you start treatment the better,” says Vicki in regards to her twins, “but it’s the physiological side of it with children so young—I don’t think they understand enough to try and get them on medication.”
The routine of weekly infusions is especially difficult for a young adult just starting higher education and can seem limiting. “I’d like to go lots of places abroad,” says Adrianna. “That’s really what I want to do. With my infusions I don’t know if that could really happen. Other countries don’t give out infusions like they do over here.” Her mother is concerned Fabry will hold her back too.
However, for people like Adrianna, there is some exciting news on the horizon. An oral medication is being developed for Fabry Disease patients, which is soon to be approved for the European Union. “It would be a lifeline really for us,” says Vicki. “I know her passion is to travel, and I think a tablet would be that freedom that we perhaps haven’t got at the moment with infusions.”
An oral treatment would also help Adrianna’s schooling, as she just started attending college. While busy taking classes and making new friends, she regularly must return home to get her infusions. Still, her friends and especially her boyfriend have been very understanding of her condition. “Having my friends and my boyfriend accept it and not make a big deal about it has probably helped me a lot,” says Adrianna. Her boyfriend incidentally, also suffers from an extremely rare genetic condition, dextrocadia situs inversus, making mutual understanding far more palpable.
As the family looks towards the future, there are unmistakable signs of hope and of overcoming this disease. “I’ve tried to bring them up thinking that Fabry’s shouldn’t hold them back. Physically it might be holding them back a bit, but don’t let it be a barrier… I wasn’t going to let it hold me back.” Vicki, still on her path to becoming a fitness instructor, and still being a supportive parent, is reaching out to help others. “I would like to go down the route of working with people with diabetes or disabilities,” she says about her new career. “If I can do it, then anyone can.”