With Rare Disease Day on 28 February fast approaching, and one in 17 people affected by rare diseases, artist Mel Williams wants to share her story with the Cambrian News.
Mel has hypophosphatasia, a disorder that affects the development of bones and teeth. Despite not being able to sit up at six months old and suffering with pain in her legs and back her entire life, Mel, who lives in Bala, wasn’t diagnosed until she was 52.
A decade on, Mel works hard to raise awareness of rare disease in the hope others won’t have to wait five decades for a diagnosis. Sharing her story, Mel said: “My earliest memory of pain was when I was three, sitting on my grandmother’s lap.
“I was forced to take part in sport at school. I remember being forced to do a backwards roll and being in agony afterwards. I always felt like I was the clumsy child; the one who couldn’t run as fast as others. With hindsight it’s easy to know why, but at that stage it was frustrating because I wanted to be as good as the rest and do all those things the other kids were doing.
“At 13 my backache was horrendous. I went to hospital and had various x-rays. The doctors thought I had cancer and performed an operation on my spine. Thank goodness it wasn’t cancer but at that age, the situation was very traumatic. I remember being put in a room full of doctors, naked, not able to speak because I was under sedation. I can remember windows and all these doctors watching on whilst I was moved into funny positions.”
As Mel got older her situation deteriorated.
“I had two beautiful girls, but they were quite difficult births because the shape of my spine was different. I wasn’t very well. Mick, my husband, is a teacher and he used to run the six miles home at lunch to support me.”
Mel took painkillers and tried to get on with life.
“But the pain took its toll and I ended up having a breakdown,” she recalls. “I was really struggling, getting nowhere with doctors. During an appointment at the hospital, I met this nurse, going through my results. She said, ‘Your alkaline phosphatase is really low’, so I went back to the GP. He referred me to a metabolic specialist. After about a year of tests, he diagnosed me with hypophosphatasia.”
Having a diagnosis has helped Mel, and now she wants to help others.
“With the help of Metabolic Support UK, I have been trying to raise the profile of hypophosphatasia because I think there are lots more people out there with it who have not been diagnosed yet,” she said.
“It is a very simple test to get diagnosed. If we could get healthcare professionals to know what the test is – just testing your alkaline-phosphatase – then people turning up with bone pain, fractures, and calcification, could just do this little test.”
Mel has her own blog, HPP and Me, and is also part of ‘I am number seventeen’, a campaign to raise awareness of rare diseases and the difficulty people have getting diagnosed with one.
The campaign started in 2020, with an exhibition of portraits of people - including Mel - who have rare diseases. Phase 2 last year saw the creation of media content to relay what it is like to live with a rare disease; Mel made a podcast.
This year, phase 3 is about encouraging the healthcare community to support rare disease by keeping it at the front of their mind when trying to diagnose a patient.
As well as taking part in the campaign, Mel can also be seen working hard to keep herself fit.
“I worry about losing muscle tone and strength,” said Mel.
“The pain and weakness mean I can do less and less, so when the weather is good, I get out on my recumbent electric trike. There is less strain on my feet on the trike - walking is a nightmare these days - and it is fantastic to be out in the countryside again seeing the surroundings that inspire my art.
“I am an encaustic artist. I work with hot wax and blowtorches, because the heat helps with the pain, and I can work longer”.
See Mel’s artwork at www.melaniewilliams.net/, and the ‘I am number Seventeen’ artwork and stories at iamnumber17.geneticalliance.org.uk/.
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