Hemel parents raise awareness of rare condition that could paralyse their five-month-old baby girl

Alex and Dave have set up a fundraising page to help fund the research for a cure

Thursday, 1st July 2021, 12:08 pm

The family of a five-month-old baby girl from Hemel Hempstead, who has been diagnosed with a rare and incurable condition, are raising awareness of her life-limiting disease in a bid to help other parents look for potential signs at an early age.

Alex and Dave Robins are also trying to raise money to support research into Fibrodysplasia Ossificans Progressiva (FOP) - which affects just one in two million people.

The condition means Lexi, who was born January 31, 2021, cannot have any injections, vaccinations or dental work and if body receives even a minor trauma (something as simple as falling over) her condition will worsen more rapidly.

Five-month-old Lexi has been diagnosed with Fibrodysplasia Ossificans Progressiva
Five-month-old Lexi has been diagnosed with Fibrodysplasia Ossificans Progressiva

This disorder gradually replaces muscle and connective tissue - such as tendons and ligaments - with bone.

This condition leads to bone formation outside the skeleton, extra-skeletal or bone, that restricts movement - many refer to this as their body turning to stone.

There is also a 50 per cent chance she could become deaf as the extra bone develops through her body up her neck.

Alex and Dave want to raise awareness of the incredibly rare disease to help health experts and so other parents can look for any potential signs.

Alex created this graphic to show some of the signs parents can look out for

Alex said: "The day after little Lexi was born we noticed her big toes did not look the same as everyone else's and in addition the movement in her thumbs looked a little odd.

"In April 2021, after x-rays we were told she had bunions on her feet and that her thumbs were double jointed.

"A few weeks later we were informed Lexi was missing the top bone in each of her big toes and her thumbs were fused (meaning her thumb is just one long bone and she has no knuckle).

"At this point we were incorrectly told that it was possible she had a syndrome and it was unlikely Lexi would ever walk."

Lexi

The family had a feeling this was not correct and after doing their own research they came across the extremely rare disease, FOP.

After weeks of testing, Lexi's results were sent to a specialist lab in Los Angeles where unfortunately they confirmed she had tested positive.

Dave said: "The day we got the result we were heartbroken but we had to pick ourselves up and fight, and now we have some hope we are going to do everything we can to help her, like any parent would.

"Only one in two million people are affected by this completely random assignment of genes.

Alex and Dave with three-year-old Ronnie and five-month-old Lexi

"We're under the specialist of a top paediatrician and he told us that in his 30-year career he has never seen a case like this.

"If you are not aware of the condition, some children could be misdiagnosed and then mistreated as a result.

"We have had people contact us concerned that their children might have it and we have encouraged them to get specialist advice.

"The professionals are doing a great job but it is such a rare condition that it can be easy to mis-diagnose.

"Raising awareness is key, lots of people have never seen it before.

"This condition is so rare, even if a child has any of the symptoms, it might not mean they have it, but it is important to know what to look for and be aware.

Lexi

"We want the professionals to be aware of it as well, we do not want to discredit them, but it is just so rare."

Alex said: "This disease develops differently in each person and whilst traumas are expected to start around 4 years old some start as babies and the ‘luckier ones’ start later on in life.

"But no two cases are the same and it is a really rare disease which is why we want to raise awareness of it.

"Lexi is amazingly strong physically, she is doing well and is such a happy baby, she is always laughing."

It is not known what causes the condition, and the scientists working on the cure are solely funded by the FOPFriends Charity.

The charity, which receives no funding from the NHS, aims to raise funds to find effective treatments for the rare genetic condition and supports people living with FOP and their families.

Alex and Dave found out that there are active clinical trials that are proving to be positive and have set up a fundraising page, they set a target of £100,000, which Alex says was a four year target.

She said: "We have spoken to experts and learnt that there are active clinical trials which are currently very successful.

"They suspect within the next two to three years medicine will hopefully hit the market to help prevent and eventually cure the disease.

"Of course, as with any clinical trials they need money to help the research and pay for the expert's time.

"Our aim is to help raise funds to get this medicine on the market quickly and ensure Lexi can receive it in the early stages of her life to help prolong her time here with us.

"We want to raise as much as possible to support the research, which is around £150,000 each year.

"We set a target of £100,000, that was a four year goal, but amazingly we have already reached £30,000 in three days!"

Alex and Dave, who are also parents to three-year-old Ronnie, have been overwhelmed by the support they have received.

Alex said: "We want to thank everyone, especially locally, the Hemel community has been amazing.

"Everyone was sharing the page on social media, and the local businesses, pubs and schools have all been supporting us.

"We are so grateful, we can't believe how much support we have received, it's amazing and we are so thankful."

To support the family in finding a cure for little Lexi visit: www.crowdfunder.co.uk/finding-a-cure-for-our-little-lexi.