UK baby 'turning to stone' due to rare diesease

UK baby ‘turning to stone’ due to rare diesease

UK baby ‘turning to stone’ due to rare diesease


The condition leads to sufferers being bedridden by the age of 20 and life expectancy is around 40

London: The parents of a five-month-old baby girl in the UK who is "turning to stone" are urging others to know the warning signs of her rare illness.

Lexi Robins was diagnosed with a condition that affects just two million people globally.

Lexi seemed healthy at birth, but when her parents Alex and Dave Robins noticed an issue with her big toes, it led to the discovery that she was suffering with fibrodysplasia ossificans progressiva (FOP).

The condition leads to sufferers being bedridden by the age of 20, while life expectancy is around 40. It's a genetic disorder where bone forms outside of the skeleton – which restricts movement and is often compared to the body turning to stone.

The family, from Hemel Hempstead near London, want other parents to learn the signs of the rare condition.

Lexi was born on January 31, and her parents said the first thing they noticed was she didn't have much movement in her thumbs and that her big toes didn't look quite right.

In April she had X-rays which revealed her thumbs were double jointed and she had bunions on her feet.

Ms Robins, 29, said at first they were told Lexi had a different syndrome that meant she wouldn't be able to walk.

The family didn't believe it because of how strong she is, and decided to do their own research before approaching specialists with the prospect that their little girl could have FOP.

Lexi had tests and the results were sent to America, where they confirmed she had FOP on June 14."The gene that they look for is the ACR1 gene, and that unfortunately is the gene that she has," Ms Robins told Herts Live.

"We're under the specialist of a top paediatrician in the UK and he said in his 30-year career he's never seen a case like this, that's how rare it is," Mr Robins, 38, added.

Both parents have praised Lexi for her resilience and have described her as "just brilliant".

Through their own research, the family found that there is a 50 per cent chance Lexi could become deaf if extra bone develops through her body.

Robins added: "It's heartbreaking and a rollercoaster. When you're told there's no cure your heart sinks.

"We're kind of in that process at the moment of having to wrap Lexi up in cotton wool as best we can but at the same time making sure she doesn't miss out on anything."

The family are part of Facebook support networks and say they have also received help from the FOP Friends charity.

The said the aim is to help raise money for the charity and raise awareness as they now feel they can help others spot the signs of the illness.

Show Full Article
Print Article
Next Story
More Stories