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Daily epileptic seizuresTiny flaw in her DNA! Baby Lea fights her way into life despite a rare genetic defect
Lea is not yet a year old and has already been through a lot because of her rare genetic defect.
lea-herter.com / Lea fights
“With every cramp something breaks”
It's just a tiny difference in her DNA, but because of the NUSAP1 genetic defect, every day is a struggle for Lea. Epileptic seizures repeatedly cause her little body to tremble. Her parents have not left her side since birth. With the support of friends, the family is now collecting donations for important therapy.
Like an electrical storm in Lea's head
The little girl from Braunschweig is not yet a year old and has already come a long way. The baby has epileptic seizures almost every day. Lea's parents explain that it's like an electrical storm in her head, like a short circuit. Sometimes the attacks are so bad that they cannot be stopped and the family has to call an ambulance, explains Babette Schmeing in an interview with RTL. Together with her husband, her friend tries to help Lea's parents wherever she can.
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The diagnosis of the genetic defect struck the family like lightning, the family writes on their own website for little Lea. When the little girl was born in August 2025, no one had any idea what Lea would have to endure in the next few months.
Lea carries a de novo mutation in the NUSAP1 gene. The family is faced with a mystery for which there are hardly any answers.
lea-herter.com / Lea fights
Therapy is showing initial success
Lea has the genetic defect NUSAP1, of which only 50 cases are known worldwide. This tiny mutation on one of the genes prevents Lea's brain from fully developing, the girl's family explains. In addition, the epileptic seizures disrupt their development. “With every cramp something breaks,” says Babette Schmeing.
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Thanks to her medication, Lea already has fewer epileptic seizures. At the same time, the side effects put a strain on her little body. But for the family, every small step forward counts. After intensive occupational therapy, the little girl has recently been able to open her hands and hold a toy. What sounds obvious is a small miracle for the family, because for a long time Lea's fingers were clenched into tight fists.
Occupational therapy is showing initial success for Lea. Special therapy in Poland is intended to help further reduce epileptic seizures.
lea-herter.com / Lea fights
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Family collects donations for important therapy
It is important for Lea's family to further reduce their daughter's epileptic seizures. “Seizures change the brain in such a way that further seizures become more likely,” explain Lea’s parents. They fight to break the vicious circle. An important therapy in Poland is intended to help the almost one-year-old. In order to finance this and also to relieve the family's everyday burden, The family collects donations for Lea on their own website.
Because Lea's father is going back to work after parental leave, says Babette Schmeing in an interview with RTL. However, he often has to call in sick if something is wrong with Lea. The little girl's genetic defect demands a lot of strength and endurance from the family, says Schmeing. But every new therapy is also a further chance for development and more independence for the little ones.
Sources used: own RTL research, Fundraiser for Lea
