One in a billion baby! Little girl born with ultra-rare syndromes never seen in one patient starts marathon surgery list
A little girl born with ultra-rare syndromes ‘never seen in one patient’ starts her marathon surgery list to fix her face and help her to lead a normal life.
Adorable Zoey Tidwell from Saucier in Mississippi, USA, battles an array of complications from undergrown facial bones, a large cleft, a smaller jaw and chin, difficulties breathing and more.
Doctors recognised her issues during a 20-week ultrasound scan but after her birth pronounced she had one of the most severe bilateral clefts they had seen.
She has no formed bones around her eye sockets and below, with even her jaw bones missing tiny chunks of bone.
At only eight-months-old, she is soon to have her second surgery attempting to fix her cleft, that will eventually allow her to eat without a g-tube and articulate words.
Zoey’s problems have been caused by genetic mutations leaving her with a deleted chromosome and an additional chromosome.
Her case is so unusual that geneticists cannot find ‘any other documented cases’ like hers and expect her to need surgery every six months until she’s 18-years-old.
Mum Megan, 27, said: “Zoey is the only patient to have all these conditions together, from their studies no other child has all the same syndromes and missing chromosomes.
“Her geneticist told me this is very, very rare and a one-time occurrence, he’s researched it but hasn’t found any other documented cases like my daughter.
“She has one deleted chromosome and an extra chromosome too, it’s two different chromosomes that the genetic mutation occurred within.
“Due to her chromosome problems there are certain parts of her face without bones, so she doesn’t have any eye-sockets and all the bones in her jaw are missing little chunks.
“She has a bi-lateral cleft lip and pallette, meaning both sides of her face are affected, it was one of the most severe cases doctors have ever seen.
“From an MRI, her jaw bone has clefts, she has tissue and bone missing so there’s no way to currently pin her face back together – later in life bones and tissue will be used from her ribs to rebuild her face.
“She has a lot of problems breathing too, her chin is very far back so she has always struggled, especially at night where she stops breathing for a few seconds at a time.
“Her Treacher Collins Syndrome was so dominant that she couldn’t feed and had to be fed through a g-tube, it was pretty scary at first as I didn’t know how I would take care of her.
“Despite her problems, she’s an angel and is doing great to get through all of her surgeries so far but realistically will need operations every six months until she’s 18-years-old.
“Without the surgeries her outlook is pretty bleak, and her quality of life will not be great, it’s extremely important that she learns to eat, talk and act like everyone else.
“Zoey is my little fighter, even at such a young age, she is incredibly resilient and has changed my life.”
The little girl inherited Treacher Collins Syndrome from mum Megan, the condition affects the development of bones and tissue in her face.
But due to other chromosomal problems Zoey’s condition manifested as a dominant form causing her bilateral cleft lip and palette, preventing her from feeding and forming words.
She also has micrognathia, which stopped her jaw, chin and ear from developing correctly, as well as Pierre Robin Syndrome that contributes to the obstructions in her airways.
Megan said: “The doctors do not know why it happened to her, it is so rare all they know is that she inherited the chromosomes and the syndromes from me.
“I do not have the dominant genes, mine are recessive, because Zoey was born with the dominant form the effects are much more pronounced for her.
“They are still conducting genetic testing on Zoey to find out more information, hopefully within the next three to four months we will know more about her condition.”
Zoey has needed several operations so far, including fitting a g-tube to help her eat and lip surgery.
She had her first operation to start fixing her cleft three months ago, but due to it being such an extreme case the hole reopened reverting to its previous state.
Megan said: “Within a few weeks her lip fell apart, it now looks exactly like it did before the surgery, because the gap is so big around her lip the doctors kind of expected that it could happen.
“As well as surgeons attempting to close her lip, she had to take skin from behind her ears and graft them under her eyes.
“They had to take the graft because otherwise when they closed the lip it would mean her eyelids wouldn’t be able to shut all the way.”
Megan was initially concerned that strangers would treat her daughter differently due to her appearance.
To her surprise, she has received support from the public and now appeals to other parents to raise awareness of the condition and encourages them to embrace their differences.
She said: “I was really worried about the reaction from strangers and kids, but they have all been pretty great, I explain to them that this is how God made her.
“Most people tell me she’s cute when we go out in public, for me it’s important that we try to raise as much awareness as possible as while she is different, she’s just a normal baby.
“I call her my ‘little Zoey bug’ all the time, she’s just like any other baby she coos, cries and kicks, she’s also hitting all of the major milestones.”
Single-mum Megan, who works part time, is fundraising to cover the cost of travelling to Zoey’s weekly medical appointments that are an hour and a half away
She relies on the kindness of family members to drive her for and hopes for assistance with daily living costs such as food while on a low-income job.
She said: “Zoey has so many doctors’ appointments that I have to go to every week and need to book off a lot of time to take care of her.
“Right now, she’s seeing a gastroenterologist, a plastic surgeon, two different paediatricians, a geneticist, a paediatric surgeon, an ophthalmologist, an ear nose and throat doctor, an audiologist and a pulmonologist.
“They all correlate together as her craniofacial team, she has to see each of them at different times, so it can be difficult to coordinate and hold down a job.”
To donate to her fund visit: www.gofundme.com/BabyZoeyLeann
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