A baby girl in Slovakia has defied doctors’ expectations after she was born with an extremely rare genetic condition that can make her skin grow as thick as a “turtle’s shell”.
Elizabeth Kadlecik was born in June 2020 with harlequin ichthyosis, a condition that causes the skin all over her body and face to grow quickly and up to 8mm-thick. It affects just two in a million people.
Her mother Natalia was told when she was 30 weeks’ pregnant that her baby was going to be born with both mental and physical disabilities.
As doctors were unable to provide a diagnosis until birth, Natalia and her husband Martin – who have three other children – were left devastated and confused.
When Elizabeth was born six weeks premature, she was rushed to intensive care as the hard skin around her face and chest was making it very difficult for her to breathe.
The thick layer of skin deformed her face and body because it had constricted her growth.
Natalia and Martin were told by doctors that their daughter’s condition was so severe that she did not have a chance of surviving.
“She came to this world in a thick and hard crust, like a turtle,” Natalia said.
But, after spending five weeks sedated in intensive care, Elizabeth survived.
However, the skin condition has led to the loss of her eyelids, two of her fingers, four of her toes, and the ability to regulate her body temperature as she is unable to sweat.
When she was born, doctors had expected that she would lose all her fingers and toes.
Natalia said, that because Elizabeth has most of her digits, that it is “important she will be able to use her remaining fingers properly.”
She added: “But the bandaging is quite painful and it has the tendency to bleed, because the skin on her palms is too tight.
“In the future, plastic surgery will be needed.”
Elizabeth’s parents have been told that her premature birth could have saved her life as she was at risk of suffocation if her skin grew any thicker while in utero.
As her condition is so rare, medical surgeons and plastic surgeons were unwilling to cut off Elizabeth’s thick skin soon after her birth.
Natalia and Martin were so worried about the constricted growth of her skull that they carried out the risky procedure themselves – which fortunately was a success.
Within a matter of days Elizabeth was freed from her “cocoon, like a butterfly” – Natalia wrote on her website.
Elizabeth is currently the only person in Slovakia with harlequin ichthyosis, despite the country having a population of about 5.5 million people. Her parents said that it is possible that she has the most severe case in Europe, if not the world.
She had also been given differing opinions by doctors on how long she can expect to live. One medic told her parents that she will not live beyond 20-years-old, while another said there’s no reason why she cannot live into old age.
Her siblings, two sisters and a brother, had “immediately fallen in love” with her, Natalia said.
But the family’s finances are in a precarious state as neither parent is able to work full-time, and the Slovakian government gives them only £15 a month in assistance, the parents said.
The household’s main source of income is a shop that had been closed due to the coronavirus pandemic.
The couple have had to rely on financial support from friends, family and online donations to cover the high costs of Elizabeth’s care.
Natalia said: “We have to pay for nearly everything from our own pockets, and we are forced to travel abroad for medical treatment and without an option that one of us could work full-time.
“Elizabeth’s future is a big question, even for specialists, but we blame no one.
“In the future, I will have to home-educate her and will never end up going back to work.
“She will probably need plastic surgery in the future for her eyelids, fingers, toes and ears.
“I know from other mums of kids with her condition that some people are mean and call their kids nasty names, but I don’t really know how I will react. I’m not sure if I will cry or yell when this starts to happen.
“I pray I will be prepared and I hope to stay strong for Elizabeth. This is the reason I write about her to raise awareness.”
Elizabeth’s care includes putting in eyedrops and gels every hour – as she is not able to close her eyes, bandaging her body, two long baths per day with a lot of exfoliation to shed the extra dead skin, and moisturising with cream at least six times a day.
Failure to moisturise when needed can make her skin crack and bleed, opening up the possibility of infection – Natalia said, adding that Elizabeth has already had skin infections that have required her to have three blood transfusions.
Natalia said: “As long as we follow all of the rules and our skin regime, eyes regime, and make sure she is not undercooled or overheated, Elizabeth is comfortable, happy and interacts with us like any other healthy child.
“Her diagnosis doesn’t affect her mental abilities fortunately and some say that children with the condition tend to be very intelligent.
“We love to watch how she is loved and adored by her three older siblings. They reminded us of how much love is in us humans.”
The family’s website can be found here, including details on how to donate.
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