Family creates special memories after Piper's heart-breaking 'one-in-a-million' diagnosis

Piper Westwood's loved ones were left heartbroken when she was diagnosed with Riboflavin Transporter Disease, a debilitating, neuro-degenerative genetic disorder last month.

Formerly known as Brown-Vialetto-Van Laere (BVVL) or Fazio-Londe (FL) syndrome, the disorder is characterised by a loss of certain nerve cells in the spinal cord and brainstem called motor and sensory neurons. The loss of motor neurons leads to progressive weakness and wasting in muscles, including those muscles used for movement, breathing, and swallowing.

Piper's mum, Becky Winters, says the family have been left 'in limbo' after the diagnosis of the rare condition, which left the youngster with slurred speech, unable to smile, deafness and unable to close her eyes.

"It's been a shock," said Becky. "We don't know what time we have got or how rapidly Piper might deteriorate because it's a life-shortening debilitating disease which basically paralyses you.

"There is no cure, although there is a treatment – Riboflavin – which is an essential water-soluble vitamin taken three times a day and we just hope that it slows things down."

The family grew concerned last November when Becky said: "We noticed Piper had some slurred speech but were told she was probably mimicking other children or being silly.

"Then, in January, we noticed we hadn't seen Piper smiling for a week and at night she wasn't closing her eyes when sleeping."

The family took her to Good Hope Hospital and an MRI scan, blood tests and a CT scan followed but all returned clear. Piper was referred to paediatric neuromuscular consultant at Heartlands Hospital, and after further tests , it was discovered she had RTD.

"It's so rare that there's not a lot of research and no specialists out there," Becky added. "There's a man in Canada who has set up a research charity, Cure RTD and there are only 160 people in the support group, worldwide, it's that rare."

"It has been devastating. Piper's brother and sister, Thomas (8) and Kassey (11) are taking it hard.

"Piper is full of energy, so lovable, one of the huggy types, very caring and if she sees you upset, she'll come over and give you a hug and stroke your face.

"We have to keep our eye out, particularly on her breathing problems.

"If she gets a cold, cough, fever or anything like that, her symptoms could rapidly progress.

"At the moment, she can't smile, close her eyes, blink. She is expressionless and has deafness.

"She has trouble chewing and communication is hard. She wakes up in the night sometimes gasping for air."

Now the family are holding a fun day on May 14, between 11am-3pm at the Falcon Lodge Community Centre to help raise funds to give animal-loving Piper and other children in the UK with the condition, some special days out.

"We have managed to get mascots, a puppet man, live music, and games like hook a duck," said Becky. "The fire brigade are coming down with their engine.

"We just want to raise awareness of the condition and bring the community in for a good day to raise some money."

Becky's sister Jessica has launched a gofundme page. Visitgofundme.com/f/pipers-wishes

The family are also looking for a magician to entertain at the fun day. Email bexkas2012@gmail.com if you can help.