Omagh woman opens up on rare bone condition which leaves her in constant pain

A Co Tyrone mum who was diagnosed with an extremely rare bone condition has opened up on the difficulties it has caused her.

Shauneen McLaughlin, from Omagh , was recently told she had X-linked Hypophosphataemia (XLH) after years of trying to diagnose an unknown bone condition which was first detected when she was five.

The 27-year-old had to have an operation at the age of 21 to have metal rods inserted into both her legs to help her to walk, while everyday acts such as sitting, standing and talking to people cause her significant pain.

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“I received a diagnosis of a bone condition around the age of five. The diagnosis came about when my primary 1 teacher had pointed out that my walk was a little different than that of my peers in my class,” said Shauneen, who lives with husband Christopher and their 2-year-old son Finn.

“Initially my parents had thought that I had a laddish walk and thought nothing of this, but after consideration they thought it best to get a second opinion.

“Although my walk was a little different at this young age there were no other symptoms other than complaining of sore legs after walking any distance and a slight bowing of the legs.

“The diagnosis was a shock to my parents as I was a spontaneous case, after hearing that the condition was genetic, the geneticists in Belfast helped my parents research if anyone in my family had the condition but confirmed I was the first.

“As I became a teenager, I found the condition more challenging in a cosmetic sense. Like any other teenager I became more and more self-conscious of my body especially my legs as they were bowed, and I was of short stature.

“My mental health took a huge dive at the age of 14 onwards and I struggle a lot with my self-image.

“Since having my son I have found things such as lifting him up and down stairs, in and out of cars etc to be quite difficult but the more independent he becomes the easier it gets.”

Despite her resilience, the condition has impacted Shauneen’s mobility, with arthritis developing in her knees, wrists and fingers.

The Omagh woman says there is often a stigma between what is solely a physical condition and people’s perceptions of her mental condition.

“I think sometimes when people see a physical condition, they sometimes think there’s not a brain in there,” Shauneen said.

“That there are no feelings, and people just stare. Just because there’s a physical condition, it doesn’t make you stupid.

“I feel like that’s the stigma that comes with XLH sometimes.”

After a recent confirmation that her condition was the little known XLH, Shauneen said she worries that the genetic condition may be passed down to her son Finn, but added she is confident that if that’s what happens they will be in a better place to deal with it.

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She says the help of her family and husband have helped encourage her to see past her condition and make the most of life.

Shauneen added: “My family have always been a great support to me and without them I don’t know how I would cope.

“My mother has been my biggest support throughout life and has always taken great care of me and ensured that I was receiving the care I needed with the best of her knowledge and with the resources that she had.

“Throughout my life my mother and father have never made me feel like I am any different or that there was anything I couldn’t do.

“My husband is also a huge support to me and helps with my day-to-day struggles. He constantly reminds me that I can do anything if I put my mind to it and is my biggest advocate.

“With the support of my family I have been able to achieve so much in my life with the reminder that my condition isn’t who I am and it doesn’t have to hold me back!”

The Omagh woman is taking part in an art exhibition after undergoing a makeup transformation as part of the ‘Shine a Light on XLH’ campaign run by Kyowa Kirin International.

“XLH is a condition that I would say I knew very little about until about 5 years ago which may sound surprising as I am living with it, but growing up there was very little information or resources for myself and my family.

“I felt quite alone as I knew no one who was going through the same struggles as myself and I didn’t even know how to begin to explain this condition.

“I used to explain it as ‘I walk funny and I am short because of my condition’, but now with the information I know, I can explain in detail what is going on with my body and how it affects me.”

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