By Bradley Stokes via SWNS
A three-year-old girl has been left without a smile because of a rare, incurable condition which means she only has one facial expression.
Piper Westwood was diagnosed with Riboflavin Transporter Deficiency (RTD) which means her face is paralyzed from her lips to her forehead.
The one-in-a-million degenerative condition can also cause deafness in victims.
Her mom Rebecca Winters, 33, realized something was wrong when she noticed Piper slurring her words and sleeping with her eyes open.
Blood tests and scans all came back normal but last month doctors said they believed she had RTD and is unlikely to ever smile again.
Rebecca, of Sutton Coldfield, England, said: “She was like any other normal child.
“She was happy and normal and was quite advanced with her speech.
“She was even walking at eight months old and playing around.
“She was a very smiley child. There was nothing to indicate what would come. It is really upsetting and it breaks my heart to think she won't ever smile again."
At first, Rebecca put Piper's slurred speech down to copying her classmates but she soon realized her daughter was seriously ill.
She added: “Before Christmas last year, we noticed she had some slurred speech.
“We thought, at the time, she was mimicking other children at her school, because she is more advanced than other children her age.
“After Christmas, we noticed more symptoms.
“With many cases of RTD, it is often a fever that starts the underlying symptoms off.
“We took her to Good Hope A&E in January where they did a number of tests.
“We had an urgent meeting with the neuromuscular department at Heartlands Hospital where they did CT scans, MRI scans and an Electromyography (EMG).
“Everything came back normal apart from her EMG, which said that she could not move her muscles in her face. It was then she started treatment for RTD.
“She had the Riboflavin dosing even before she was officially diagnosed in March.
“Saying that, she is still happy. I don’t think she truly knows what is going on.
“It will never affect her cognitive side either. She will always be aware of what is going on.”
It is estimated that RTD affects less than one-in-a-million people.
Piper has also developed deafness, breathing problems and has lost the ability to chew her food.
Rebecca, who has two other children, said: “There are only 200 cases worldwide.
“Her dad has a mutated gene, as do I. Piper has got this gene which resulted in this deficiency. There was only a 25 percent chance it could be passed over.
“We learned that there are three different types of RTD. Piper has RTD Type 3.
“It means she has a localized area of muscle weakness, and that affects the hearing and breathing more.
“She can’t blink or close her eyes at all. She has facial paralysis from her upper lip to her forehead so she is completely expressionless.
“Because she can’t blink, her eyes are sore and we have to give her drops. If there is dust or it is windy, we have to put on protective goggles."
“She can’t squint in the sun either so she has to have UV protective goggles. They have to be UV because she can develop cataracts too.
“She can’t chew either because of the muscle weakness in her tongue. Everything has to be cut up small.
“At the moment, we are waiting for a sleep test machine to come because she is waking up in the middle of the night gasping for air.”
Due she does not know what the prognosis will be because every case is so different.
She added: “Nobody knows exactly what the future will hold.
“There is not enough research. What I do know is that anything from a sickness bug to a cold can progress symptoms rapidly.
“It could stop her from breathing because it could stop her diaphragm from moving. If that’s the case, then she’ll have to have a feeding tube.
“We as a family are absolutely devastated. We don’t know if we are going to wake up one morning and find her dead because we haven’t caught her breathing in the night.
“It is a constant 24-hour worry. I haven’t slept properly since January. I am constantly getting up and watching her.”
A GoFundMe page has been set up for Piper to help create some memories for the older siblings Thomas, eight, and Kassey, 11.
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