Summer 2021Rachel Winnard: One in Two Million

Rachel Winnard, from Rochdale, suffers from an extremely rare and disabling medical condition which causes her body to replace its muscles and connective tissues with bone: Fibrodysplasia Ossificans Progressiva (FOP).

FOP is a very rare genetic disorder or mutation. It affects approximately 60-80 people across the UK – or one in two million – and the gene responsible was only discovered 15 years ago.

An error in the body’s repair mechanism means new bone is created in the wrong place. Simple bumps, bruises, and intra-muscular trauma, like injections, can turn muscles, tendons and ligaments into bone.

When the body starts to generate new bone, a painful flare-up is usually experienced, which can be accompanied by tissue swelling, joint stiffness and serious discomfort. Episodes of bone growth can also occur spontaneously.

There is no definitive treatment or cure available for patients with FOP.

Rachel, 36, of Rochdale, was born with the condition, but was not diagnosed until she was 12 years old. From the age of 18 months, doctors thought the lumps and bumps on her back were benign tumours, diagnosing her with aggressive juvenile fibromatosis and treating her with chemotherapy and radiotherapy.

When she was 12, doctors realised Rachel was missing a bone in each of her big toes – a classic ‘tell-tale’ sign of FOP – which led to her diagnosis. The tumours weren’t disappearing, but turning into bone, meaning Rachel was essentially growing a second skeleton.

The condition means that Rachel is becoming trapped in her own body – she is unable to wear flat shoes as her feet are frozen on tiptoe – but she refuses to allow her condition stop her living life to the fullest.

Fiercely independent, after suffering a bad fall followed by a flare, Rachel had to move in with her mum, before then moving into her own bungalow in Rochdale – three days before Christmas last year.

“I thought I’d broken my pelvis, and I’ve never had pain in my shoulder like it before. I was in so much agony,” Rachel recalls. The fall means Rachel was left bedridden for months, leaving her reliant on her mum, aunt and carers. Since the fall, Rachel is only able to walk tiny doll-like steps, with some support as her balance “isn’t great.”

“I can walk short distances around the house, but I need to hold someone. I’m unable to go to the toilet on my own, or shower.

“The hardest thing about FOP is losing my mobility. I miss being able to dance and I’ve always been quite a social person. I’m stubborn, but you need to be with a chronic illness. I want to inspire others living with the condition, as well as increase awareness.

“It’s been hard not being able to see friends and go on a night out,” she continues, referring to the current pandemic. “My friend Lorna has been amazing though. It really makes my day when she visits. We’ve been friends since we were 15.

“But I’ve not really minded lockdown because it wasn’t that different for me anyway. It’s been quite nice going around Falinge Park in my wheelchair as I’ve tried to get out as much as I can, and in December I got Mabel [Rachel’s Shih Tzu dog]. We all take Mabel out for a walk and she runs next to my chair. She’s been the best thing ever.”

Rachel has even become one of the first FOP patients to have the Covid-19 vaccine, despite the associated risks. The risks associated with the vaccine for people with FOP mean the decision to take it must be assessed on a case-by-case basis. “I want to go on holiday,” she laughs.

“I love going abroad. I’d like to go on a cruise; somewhere hot would be ideal.

“My last holiday was when I saw my sister in Australia in 2019, but I don’t know if I could sit on a plane now. When I went, I could still bend my leg, but coming back, I couldn’t. It was a bit of a nightmare."

The UK’s only FOP charity, FOP Friends aims to raise awareness of FOP to aid early diagnosis, which can help to prevent the oftendevastating progression of the condition.

Helen Bedford-Gay, Communications and Fundraising Manager, FOP Friends, who has known Rachel for 12 years, added: “Rachel has been through some tough times with her FOP, but even when faced with challenges, she somehow manages to adapt, get on with life, and do so with a laugh and a joke. She really is an amazing source of strength and kindness for those who are living with FOP and is always happy to share her experience to help others.

“FOP has a profound impact on the quality of life of the people it affects. We also work to support people like Rachel, and their families, on their journey, through our small, yet special community network.”

For more information about FOP, please visit: www.fopfriends.com