Morecambe woman with rare condition wants to raise awareness of XLH

A Morecambe woman who suffers from a rare condition that affects bones, muscles, and teeth is taking part in a campaign to raise awareness of the disorder.

By Michelle Blade
Monday, 16th May 2022, 12:30 pm

Emily McKechnie, who lives in Morecambe with her husband Harry and two young daughters, Lilah and Mia underwent a stunning makeup transformation to star in the ‘Shine a Light on XLH’ campaign to raise awareness of X-linked Hypophosphataemia (XLH), a rare disease that causes immense suffering, especially when there is a lack of diagnosis.

The virtual exhibition here is an immersive experience that includes information about XLH and the makeup portraits and stories of the 11 people who took part in the campaign, created to raise awareness of the impact XLH can have on a person’s daily life.

Emily signed up to an XLH Facebook group and was asked to get involved in the campaign to raise awareness of XLH.

Morecambe woman Emily McKechnie received a virtual make-up session for a campaign to raise awareness of XLH which she suffers from.

Both of Emily’s daughters also have XLH and were diagnosed at birth.

As a child, Emily was diagnosed with dwarfism.

Emily said: “I had bow legs and spent five months in hospital in Sheffield after surgery. I missed one year of school for surgeries. As an adult it is a condition that gets worse over time.”

It wasn’t until she was about 16 that Emily was diagnosed with X-linked Hypophosphataemia (XLH).

Emily McKechnie as a young girl with frames on her legs.

By this point, she had outgrown the specialist care at the children’s hospital and was transferred to a local hospital, where the endocrine team cared for her.

Emily has since requested to be seen by an XLH specialist and is waiting to be treated by one in Manchester.

After her diagnosis, Emily found out that both her father and grandmother also have XLH and that the condition was genetically passed down to her.

Growing up, Emily felt XLH didn’t impact her life too much. It wasn’t until she fell pregnant with her first child, Lilah, that the pain began.

Emily McKechnie as a young girl recovering from one of her many operations.

The soreness, discomfort and stiffness only worsened during her second pregnancy with her daughter Mia, when she struggled to walk up the stairs, go to the shops and perform her normal day-to-day routine.

As Emily knew she had XLH, she was able to tell her midwife that they would have to screen her children for XLH as soon as they were born.

In both cases, Emily and her husband found out the results a couple of months later, where it was confirmed that both of their daughters have XLH; she described this as being “just her luck”.

Emily did work at a supermarket where she was on her feet for most of the time stacking shelves.

Emily McKechnie with her two daughters Lilah and Mia who also suffer from XLH.

Before every shift, she had to take painkillers to help her manage the discomfort she experienced every day.

At her first shift back after five months of isolation during the Covid-19 pandemic, she felt a sharp pain in her leg.

Her doctor referred her for an MRI scan, where she was told she had two stress fractures; one at the top and one in the

middle of her leg – this was the result of a normal four-hour shift at work.

Emily said: “I still get pain from the stress fractures in my leg and it takes a long time to heal.

"My hip bothers me so much, I can’t get out of the bath. It impacts my whole family, my husband is my carer.

Emily McKechnie as a young girl with frames on her legs.

"I can’t take the children to school or to the park. My mum has to take me to appointments. It affects me so much.

"There should be regular blood tests, treatments and dental care. The roots of your teeth are prone to abscesses but I just see a normal dentist every six months. My teeth are thinning out.

"My children get to see special dentists, the treatment for children with XLH is so much better than for adults.

"I’m 26 but I feel 62. In your mind you are capable but your body isn’t.

"I walk but also go between crutches and a wheelchair, it depends on what I’ve done the day before.

"There is a new treatment on the NHS for XLH called burosumab which my children have and they are thriving on it.

"They have injections every two weeks and they are doing so well. They went from having bow legs to having straight legs now. The future for people with XLH looks different.”

Emily has eight siblings including three sisters (one who has passed away) and five brothers.

Emily said: “My sister Amy will help me out doing the school run. My family are a big help.

"I’m on no medication at the minute, I’m just on pain relief. I don’t know what my levels of phosphate, Vitamin D or calcium are which can affect your liver. I got a lot more blood tests when I was pregnant.

"I have stiffness and pain in my left hip and I struggle to put my socks on or get out of the bath.

"My bones and muscles are weak and I get tired and my bones hurt. I feel pain in my hips and legs and I’m prone to flat feet, heel and foot pain.

"I’d like to raise awareness of the condition and for adults with XLH to get a proper care plan. For children it is bob on but for adults it’s poor.

"I’m just so passionate about raising awareness of XLH and the main aspect of it is there is no care for adults with the condition. We just get forgotten about. If you have diabetes you have a whole team of people looking after you, but you don’t with XLH.”

For the future, Emily hopes that improvements in care will allow her to gain confidence, return to work and get her independence back, enabling her to live a normal life.

The Shine a Light on XLH campaign was organised and fully funded by Kyowa Kirin.

Emily McKechnie with casts on her legs as a result of operations to straighten her legs.