Mother still advocating research for deadly new genetic disease
CHICORA — Most, if not all, parents think of their child as a one in a billion individual, but Elizabeth Hackwelder, born in 2013, was scientifically one-in-a-billion.
Her mother, Tara Hackwelder, said Elizabeth was born with a number of medical issues, which were found though genetic testing to be caused by a mutation of the SON gene that had only been found in four other people in the world. She suffered from neurological problems, poor growth and immune deficiencies since birth.
A genetic test confirmed that neither Tara Hackwelder or Jason Hackwelder was carrying a mutated gene that could have been passed on to Elizabeth, so she was diagnosed with the de novo mutation, a genetic alteration that is present for the first time in one family member, according to the National Cancer Institute.
The disease is now known as Zhu-Tokita-Takenouchi-Kim syndrome. It took months before Elizabeth was found to be an official case of ZTTK syndrome.
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