Advertisement

  1. ITV Report

Essex teenager is first and only person in UK to be diagnosed with rare disease

Maddi Thurgood is the only person in the UK with SPG15. Credit: ITV News Anglia

A teenager from Essex has become the first and only person in the UK to be diagnosed with an extremely rare form of motor neurone disease (MND).

SPG15 affects less than 100 people in the whole world.

Maddi Thurgood, who lives near Braintree, was told she had the condition after she started having difficulty moving around.

There's no cure for the disease, but there is an operation available in the US that would relieve some of the painful symptoms she experiences. To get her family need to raise £300,000.

  • Click below for Raveena Ghattaura's report

Just walking a few steps is a struggle for Maddi. Three years ago she was diagnosed with a rare form of motor neurone disease

It is so rare, Maddi is the only person in the country with the condition

Maddi Thurgood said: ”It is quite frightening when I found out what I had, but I just kept fighting through it to see if I could get better. But I haven't got better, it is just really hard."

Maddi has Spastic Paraplegia Gene 15 which affects the body's muscles and nervous system.

Maddi has started a photography course in Cambridge. Credit: ITV News Anglia

Before her diagnosis, Maddi loved to ice skate, but as her condition got worse she started to lose mobility in her legs.

Maddi said: "I have to rely on people, I have to say can you help me with this, I have to ask to just get down the stairs.

"I have to use a wheelchair otherwise my legs just won't work anymore.

"Walking stick and a wheelchair is not very nice for an 18 year old, but I have to use them to keep me walking."

Dr Jennifer Hirst, from the Cambridge Institute of Medical Research. Credit: ITV News Anglia

There's currently no cure for Maddi's disease.

Dr Jennifer Hirst, from the Cambridge Institute of Medical Research, said: “SPG15 is a fault in a single gene. That gene encodes for a particular protein, so it’s the instruction manual for a particular protein.

"And in this condition, there is none of this protein, so that’s the characteristic feature of this particular disease.

"It’s a progressive loss of some of the ability of some of the nerve cells, particularly those in the spine, to actually work.”

There's no cure for Maddi's disease. Credit: ITV News Anglia

The family are now trying to raise £300,000 to help fund research into the condition and send Maddie to America for life-changing surgery

Carina Thurgood, Maddi’s Mum, said: "As a parent I just couldn't accept that my daughter was just going to progress in a disease with no treatment.

“To know that we could actually have something for her, something positive happening because at the moment we haven't had any positive news.

“Maddi is determined to have surgery. She really would love to be a normal teenager and to be free of pain and to be able to walk much further than she can now."

Maddi has taken up a photography course at college in Cambridge which she says keeps her focused on following her dreams.