A family from Sutton Coldfield has been left devastated after their three-year-old daughter was diagnosed with a rare genetic motor neurone disease.
Piper Westwood's mum, Rebecca Winters, noticed the toddler was slurring her words and decided to take her to hospital, but all scans and blood tests came back normal.Then in February 2022, Piper was suspected of having a rare condition called Riboflavin Transporter Disease (RTD), a progressive neurodegenerative condition, which damages nerve cells and has no cure.
What is RTD?
RTD, previously known as Brown-Vialetto-Van Laere Syndrome (BVVL), is a rare genetic motor neuron disease.
RTD has more than one version. There are less than 200 cases known worldwide.
It is caused by a mutation to the SLC52A3 gene, which helps ‘transporters’ bring riboflavin or vitamin B2 into cells in the body.
The onset of RTD 3 can happen at any time from birth to the mid-30s but mostly happens in childhood. The condition is rare but believed to be under diagnosed.
It is expected to affect one in every million people.
For Piper, the condition means she cannot blink or close her eyes, even to sleep. Her face is paralysed from her upper lip to her forehead, so she cannot smile.She has developed deafness, cannot chew properly and has ‘very bad slurred speech’. The condition has also affected her breathing at night, meaning she wakes up gasping for air.
Rebecca, said: "It is one-in-a-million that people get it. In November we noticed she was getting slurred speech when she was two.
"We were told not to worry about it as they thought she was mimicking children that were speaking that way in her nursery."She adds: "Come January we noticed she couldn’t smile and she was sleeping with her eyes open. We took her to Good Hope Hospital. She had a follow-up appointment with an MRI scan, blood tests and a CT scan. Everything came back normal.“Then we met a really nice doctor in the paediatric department at Good Hope, Dr Dogar. He went above and beyond and rang around people. He was really concerned."The 33-year-old continued: “He referred us for an urgent appointment with a paediatric neuromuscular consultant at Heartlands Hospital, Dr Zoya Alhaswani. From there she sent us to audiology and we’ve been to Birmingham Children’s Hospital. We have also seen an eye specialist.
"We were then sent to get a rapid exome sequencing test. Genetic testing and that’s when they found she had RTD."
The formal diagnosis was confirmed on March 15, two days before Piper’s third birthday.The condition is believed to have been triggered by a viral infection that Piper had picked up. Rebecca said: “She’s been in and out of nursery and there you pick up everything. And every time a new symptom started. So far since she’s been on the treatment she’s had no other symptoms.”
She added: “Piper is a very strong, independent, loveable happy child. She loves animals and climbing on everything she possibly can. She really has no fear. She is so outgoing and has tons of energy.”Rebecca’s sister, Jessica, has set up a GoFundMe page for Piper looking to help the family including Piper’s brother Thomas, 8, and sister Kassey, 11, have special moments together.She said: “Every case is different. How the body reacts. There’s a group Cure RTD set up by a dad in Canada. There are 161 members in the group.
“I have only found three children in the UK with it. One being treated at Birmingham Children’s Hospital, one in Essex and one in Belfast. I have contacted them so we have a support network.“I am now trying to keep her away from ill people so she doesn’t get worse. We are waiting for a sleep test machine, to stop her waking up gasping in the night."Rebecca continued: "The lifespan for a child diagnosed under-10 is one to 10 years. There’s a woman who was diagnosed when she was 10 who is now 31. In America at the moment they are doing gene swapping trials for a condition similar to Piper’s.”“It’s absolutely devastating. I don’t know if I’m going to wake up and she won’t be there. I’m a fighter. Let’s put it that way."