Remarkable mum and businesswoman who is registered blind and partly deaf says it took 20 years for her two rare diseases to be diagnosed

A remarkable mum who runs a windscreen business despite being registered blind and partially deaf is desperate to raise awareness of two rare diseases after taking nearly 20 years to be diagnosed.

Just 13 when she first noticed she was a lot weaker than her friends, it was not until Gemma Seyfang was 32 that she was finally diagnosed with Pompe disease, a rare genetic disorder causing complex sugars to build up in the body, damaging the heart, diaphragm and skeletal muscles.

Now taking a trial drug aimed at stemming the progression of Pompe, which leads to progressive muscle weakness and breathing difficulties, Gemma, 37, has also been diagnosed with Usher’s Syndrome, another rare but unrelated genetic disease affecting hearing and vision.

Determined to raise awareness of both conditions, Gemma, who lives in Chelmsford, Essex, with her fiancé, Kieron, 44, a lorry driver, their son, Tyler, 15, and Kieron’s son from a previous relationship, Reece, 19, said: “I don’t want other people to have to wait as long as I did to get answers.

“The two conditions are very rare but not related, which means it’s incredibly unlucky that I’ve ended up having both of them.”

With just one in 40,000 people in the UK suffering with Pompe, it took nearly 20 years for Gemma to be diagnosed, despite first displaying symptoms in childhood.

She said: “Looking back, I first started experiencing symptoms when I was 13. My family is very active and they go skiing every year, I noticed on the slope one year that I was really struggling to stand up.

“I didn’t think anything of it, just that maybe I was too unfit and then at school, I started to struggle with climbing the stairs. I hated maths because it was four flights of stairs to the classroom and it was really tough for me to get up there.

“I was probably too embarrassed to say anything, but I’ve always just got on with things, I’m not one to complain.”

When she became an adult, Gemma started searching for answers, as her symptoms grew worse.

She said: “After I had my son, Tyler, 15 years ago, things deteriorated. At the time, I realised I couldn’t even carry my newborn baby up the stairs, I was too weak.

“If there was a washing basket on the floor, I would have to drag it up along my body, because I couldn’t bend down properly to pick it up and stand back up again. It was becoming really difficult.”

At first, doctors were stumped and it was only when another member of Gemma’s family was diagnosed with Pompe disease that she began to look into the condition herself.

She said: “I don’t think I would have found my diagnosis otherwise. It all just clicked into place, I checked every box of the symptom list.”

In August 2016, Gemma was diagnosed with a late onset form of the condition, with the early onset being fatal if left untreated for more than two years.

She said: “Nineteen years after I first felt weak on the ski slopes, I finally knew what was wrong with me.

“My brain still wants to do what anyone else can do and I always think I can do that until I realise I can’t.

“I fall over quite easily and I walk into things like desks and chairs. I’ve lost all my peripheral vision. I only have central vision so I’m registered blind and I’m partially deaf.”

She added: “The symptoms have grown worse as I’ve got older, but I’ve learnt to deal with it and it helps that my family is very supportive.

“I get a lot of muscle pain, especially at night and I can often wake up with headaches or fatigue.”

Now, determined to find suitable treatment, Gemma is currently on a clinical trial for a new drug to treat her condition.

She said: “I’m not allowed to say too much about it, but the hope is that it’ll slow down the deterioration of my health and keep me able to do things for longer.

“Treatment isn’t a cure, it just slows progression down so you can do things for longer and the lungs don’t get compromised quite so early.

“What I’ve lost to the disease will always be lost but, hopefully, with the right treatment, I can continue doing things for as long as possible.”

She added: “When I was diagnosed, I was upset and scared, but the support from my family and community was incredible.

“My fiancé and two sons are very understanding and I’ve decided to focus my energy on being positive and helping others who are newly diagnosed.

“I really look forward to being that person who can reassure others, too, like other people reassured me at the beginning of my journey.”

Last month, Gemma was invited to London’s famous Abbey Road Studios to take part in a live performance with 30 people who also suffer from rare diseases, hosted by vocal coaches Carrie and David Grant, of TV’s Pop Idol fame.

Gemma said: “It was organised by the healthcare company Sanofi and I was blessed to be involved.

“Having both Carrie and David as our vocal coaches, was a cherry on top. To have over 30 people who are not professional singers, creating a spine-tingling piece of music, raising awareness and bringing the community together, is so important to me. Our slogan is, ‘Together we are strong.'”

She added: “It was an unforgettable experience. We don’t get enough opportunities to put Pompe disease on the map.

“I’m always looking for more ways to raise awareness in the hope that, by telling people about the symptoms, other sufferers won’t go undiagnosed.”

Dr Elaine Murphy, a consultant at the National Hospital for Neurology and Neurosurgery, said: “Pompe disease can present at any age of life, but is generally more severe when it presents in very young children, as then it often involves both the heart and skeletal muscles.

“It is so important to raise awareness of Pompe disease, because the longer it takes to make a diagnosis, the more worrying that can be for patients and their families, and the more advanced the condition will be before treatment can be started.”

Gemma has been involved in Pompe and Circumstance, a project led by David and Carrie Grant and supported by Sanofi, which explores the potential link between music and health.