A WOMAN from Bala recently became one of 17 people taking part in a campaign to highlight rare diseases.

Mel Williams is Mel is one of the changemakers for the I am number 17 campaign, aiming to raise awareness of many challenges the rare disease community face and highlight the fact that 1 in 17 people will be affected by a rare disease at some point in their lives.

Mel only received her diagnosis of Hypophosphatasia (HPP) at the age of 52, despite living with the condition her whole life.

HPP is an inherited metabolic bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP).

The signs and symptoms of HPP vary widely and can appear anywhere from before birth to adulthood but may include poor feeding and respiratory problems in infancy; weak and soft bones and other skeletal abnormalities, among other things.

Mel, who previously worked for the BBC, says her husband Mick has been at her side since a very young age and that they have 'looked after this together'.

Due to her condition, Mel's career path has also taken a lot of twists and turns, seeing her go from being a budding artist to working as a secretary for a council and being chair of the Bala Tourism Association.

She said: "Doctors thought I was okay at first, but by the time I was 6 months old I wasn’t able to sit up. I used to get a lot of pain in my legs. I used to get severe shooting pains and terrible back-ache.

"As I got older, I got worse. The pain and workload took its toll and I ended up having a breakdown. I felt unsure of the diagnosis and was really struggling with pain and getting nowhere with doctors. I was always told it was growing pains and a bit of ‘wear and tear’.

"I had met this nurse, and she was going through my results and said, ‘your alkaline phosphatase is really low’. At that point I returned to my GP armed with my evidence and he began to look into it. He referred me to a metabolic specialist. I was 52 at this point. After about a year of tests he diagnosed me with hypophosphatasia."

I am number 17 launched in January 2020 with an art exhibition at the Oxo Gallery, showcasing each changemakers experience. Each changemaker was paired with an artist to create a bespoke piece of artwork, ranging from paintings, photography to physical installation.

Mel said: “I think the pandemic has given a lot of people an insight into how those with disability live. We are often restricted in what we are able to do and have developed ways to cope. We are experts in planning our days or pacing ourselves.

"I feel sure that this will have helped to level the playing field for work opportunities for those with disability in the future as it has proven that even working at your own pace and at times suited to you it is still possible to get the work done.”

"You don’t tend to tell people about your condition, because you don’t want people constantly asking how you are or noticing that you’re struggling. You grit your teeth and get through it. You don’t want to be noticed. You don’t want to stand out as being different you just want to fit in really."

"A few years went by for me and I was frustrated. During an appointment at the hospital, I had met this nurse, and she was going through these results and said, ‘your alkaline phosphatase is really low’. I went back to the GP and turns out it had been really low for 7 years and nobody had picked it up, or thought it was important. At that point I returned to my GP armed with my evidence and he began to look into it. He referred me to a metabolic specialist. I was 52 at this point. After about a year of tests and things he diagnosed me with hypophosphatasia.

" I try and keep myself as healthy as I can, but my biggest worry is losing my muscle tone and strength. 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 artwork.

"With the help of Metabolic Support UK, I have been trying to raise the profile of Hypophosphatasia over the years because I think there are lot more people out there with the condition who have just not been diagnosed yet.

"It is a very simple test to get diagnosed, so if we could get the healthcare professionals to know what the test is – it’s just testing your alkaline-phosphatase – and it’s very simple. If people are turning up with bone pain, and fractures and calcification, if they could just do this little test.

"I have started a blog, and I have written various articles for metabolic support over the years just sharing my story in the hope that I can get it out there. It’s called HPP and me. I want to improve education within healthcare, and to be honest, within the workplace."