THEY were warned their baby could be born with genetic defects yet they decided to continue with the pregnancy. The decision wasn't an easy one - there were indications during the 16-week prenatal ultrasound that their child could have Down syndrome.
But Nadia and Stefan van Graan wanted another baby and knew they'd love the child no matter what.
When their daughter Leah was born she didn't show any signs of having Down syndrome. Still, things were complicated. Her arms and legs were short. Her head was big. And then her backbone began to curve.
In the months that followed, her parents took her to a slew of medical specialists hoping for a diagnosis, but her symptoms had everyone scratching their heads.
"In her short one year on Earth, we've been to numerous specialists, Stefan (33) tells YOU. "We stopped counting because there are too many."
They eventually found the answers they were looking for when Leah was five months old. Test results showed she had spondyloepimetaphyseal dysplasia, also known as SEMD-JL. The rare genetic condition affects the growth of the long bones of the arms and legs as well as the bones in the spine.
People with this disorder are short in stature and have an abnormally curved back, which puts pressure on the heart and lungs. It also affects their hearing and sight. Leah's diagnosis was devastating for the Van Graans.
"We'd never heard of this condition," Nadia says. When tests later showed she and Stefan both carry the gene that causes the condition, they had Leah's brothers, Stef (6) and Anrich (5), tested.
"For some reason it skipped our two boys, but not Leah. According to the doctor, little girls are more likely to have it, Nadia says.
Caring for a child with physical challenges isn't easy, but giving up is not an option. "The Lord isn't going to send something your way if He doesn't think you can handle, it" Nadia says.
Denne historien er fra 30 November 2023-utgaven av YOU South Africa.
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Denne historien er fra 30 November 2023-utgaven av YOU South Africa.
Start din 7-dagers gratis prøveperiode på Magzter GOLD for å få tilgang til tusenvis av utvalgte premiumhistorier og 9000+ magasiner og aviser.
Allerede abonnent? Logg på
IT'S ALL ABOUT FAMILY
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