Without genetic testing, I would have very different prospects. Now I am able to benefit from new therapies and start to dream again.

Louise Drake was just 23 when she first started to feel unwell. Almost overnight she was overwhelmed with extreme tiredness and took to her bed. Initially she thought it was flu, but after two weeks and plenty of rest, she still felt terrible so went to her GP.

“I was incredibly fortunate that my GP listened to me. I know from talking to other people how young women who complain of fatigue are often dismissed, especially if they have a history of mental health.”

Louise’s GP sent her for a series of tests but nothing showed up. After four months, Louise was now largely bed bound and no longer able to work. Her mobility had decreased significantly and she couldn’t walk down the street without a stick.

She was diagnosed with Chronic Fatigue Syndrome.

“It was a huge shock. I’d never heard of it, so I threw myself into research and tried to adjust to my new normal. There was no cure and no treatment. I just had to learn to live with it.”

However, a review of Louise’s blood results picked up consistently low levels of alkaline phosphatase (ALP) which is an enzyme our bodies need to process calcium and vitamin B6. This prompted further conversations and Louise was referred for genetic testing through the NHS South East Genomic Medicine Service.

Genetic testing showed that Louise has a variant in her ALPL gene meaning she has a rare condition called Hypophosphatasia.

“My whole world shifted again. Now I had a new condition that I’d never heard of and it was super rare so I had no-one to talk to about it. There wasn’t even much research into it. I’d had all these aspirations for my life and now I thought I had to throw them all away.”

Louise was referred to Dr Moss at St. George’s Hospital in London who specialises in hypophosphatasia (HPP). She helped Louise to understand more about the condition which for some people can get worse over time.

“Luckily for me a new therapy had recently become available but it was extremely expensive and very difficult to get on the NHS. There is very strict criteria, and there was also no guarantee how my body would react to it.”

The NHS approved the medication and Louise started on the six injections a week.

“The first six months were really tough as I didn’t feel any better and the injections were horrible. My partner is a paramedic so he does them for me.”

After six months, Louise started to feel better. Her energy came back and she could take her dog on short walks. She recently repeated her mobility tests and the nurse had never seen someone with HPP perform the tests so well.

“I’m back at work doing a job I love running a mental health service and I can take my dog for a walk whenever I want. It has however opened up new big and scary questions about having children and what my future will look like. I still need to process what’s happened, and is still happening, to me.”

Louise’s condition is inherited so her family are also now going through genetic testing.

“Without genetic testing, I would have very different prospects. Now I am able to benefit from new therapies and start to dream again.”