Woman, 30, wheelchair-bound by mystery condition which ‘grinds’ her joints together paints to distract her from pain

A 30-year-old wheelchair-bound since childhood by a mystery degenerative condition which causes her joints to “grind together” has said she paints to distract herself from her chronic pain.

Angharad Brawn, based in the village of Ynysddu in South Wales, said she was born “perfectly healthy”, but from the age of five she started to experience aches in her legs which worsened throughout her childhood.

By the end of primary school, she needed a wheelchair and her condition continued to worsen, to the point where she developed scoliosis and needed a hip replacement at 18.

Angharad underwent genetic testing where her symptoms were likened to a rare genetic disorder – but as she was not a direct match, she has been left without an official diagnosis.

Since her youth, Angharad has been experiencing pains in most of her joints due to her condition, where she can “literally feel (her) bones grinding together”, and she uses a motorised wheelchair to move as she cannot walk or stand.

Angharad says she has “no idea” how her condition will deteriorate in the future, with her latest “scary” struggles impacting her speech and ability to swallow – but over the last two years, she has “rediscovered (her) love of painting” to provide a distraction from her pain.

Determined to remain independent, Angharad has published a children’s picture book based on her experience, regularly sells her artwork at craft fairs and on her website, and showcases her creations to thousands of TikTok followers.

“I’ve never had an official diagnosis, all the geneticists I’ve seen have basically said they have never seen anything like the symptoms I have,” Angharad told PA Real Life.

“Being in pain is draining but there’s nothing that can be done about it, I’ve just got to get on with it.

“My art really helps as it means I have to focus on something else, my bungalow has normally got different projects I’m working on all over it, so I’ve always got some sort of distraction at hand.”

Born healthy, Angharad started to complain of “aches” in her legs around the age of five.

“By the time I was seven, it was more obvious I was struggling,” she said.

“I started not being able to do things, like riding a bike.”

Angharad said she was referred to an orthopaedic consultant where it was originally thought she had Myhre syndrome – an extremely rare genetic disorder.

Her mother, Deborah Gordon, pressed for a second opinion, however, and Angharad underwent several tests, tried out various pain relief medications and had physiotherapy under a community care team.

At the age of nine, Angharad started using crutches, then by the end of primary school she needed a wheelchair – before eventually progressing to a motorised one for her independence at 14 years old.

As Angharad’s consultants could not identify a specific condition she could be suffering with, she was referred to a geneticist when she was 18.

After many appointments and blood tests, Angharad said her symptoms were likened to a condition called Schwartz-Jampel syndrome (SJS), a rare genetic disorder which affects muscle function and skeletal development.

For a confirmed SJS diagnosis, Angharad would need to display eight specific chromosome abnormalities, but she just has two, meaning she has been living without an official diagnosis.

Angharad said her condition, which is degenerative and “slowly getting worse over time”, affects her bones but also her muscles and tendons, causing myotonia muscle spasms, meaning they never fully relax.

“What’s particularly scary is that I am now having problems with my speech and my swallowing,” she said.

Angharad said her condition also results in a “distortion” of her skeleton and she has scoliosis, a curvature of the spine, which had to be corrected by metal rods implanted in her spine aged 16.

She had her hip replaced at 18 years old to relieve some of her pain.

Describing her chronic pain, Angharad said she has “good days and bad days”.

“I get pain in most of my joints, but especially in my right hip, back and shoulders,” she said.

“It is really tiring and, in most of my joints, I can literally feel my bones grinding together.”

In August 2019, Angharad was offered a bungalow through Caerphilly Council, where she now lives on her own and a team of carers visit her in the mornings and evenings.

As she cannot walk or stand, Angharad uses a hoist in the ceiling to help her get out of bed and into her wheelchair or shower chair.

“I normally describe myself as stubbornly independent, I will always try and do something myself before asking for help,” she said.

“We’ve managed to set up my care in a way that is really flexible, so some days I may need less help.”

Angharad said she always wanted to be a jewellery designer and attended the School of Jewellery at Birmingham City University, but her deteriorating hand function saw her change direction and pursue art instead.

She now focuses on painting animals, with birds being her favourite, and she is currently working to fill a sketchbook with various types of birds.

“I’m right handed but my right hand has always been my worse hand, so I’ve had to learn to paint and write with my left,” she said.

“My hands can also be shaky and I get a lot of muscle spasms.

“I think that’s why I prefer painting animals, they normally don’t have smooth edges, so it doesn’t really matter if my hands shake a bit.”

Angharad said she has to work around her disability in order to produce her artwork – which she sells at local craft fairs and on her website, byangharadstudios.com.

Angharad has also showcased her artwork on her TikTok page, where she has found a “really supportive” community with more than 12,000 followers.

She has also written, illustrated and self-published a children’s picture book, titled The Wobbly Penguin, which is based on her experience growing up with a degenerative condition.

While Angharad said she does not know what the future holds for her condition, estimating she will need more support and potentially a speaking device if her speech continues to be impacted, she remains positive.

“I just want to show that even though someone may have a very obvious physically disabling condition, they’re still fighting to be as independent as they can be,” she said.