Two-year-old Lence’s disease deprives her of speech and fitness. The girl suffers from Rett Syndrome, a rare genetic disease that affects only girls. Although the disease is incurable, a drug slowing down its development has been approved in the United States and Lenka may be the first child in Poland to receive it. On the night from Sunday to Monday, the online collection for her treatment exceeded one million zlotys.
If Lenka could talk, she would probably say that she wants to run to other children and play, but the disease poses insurmountable barriers to the two-year-old. – She doesn’t walk, she doesn’t talk, so all her needs are locked inside her. In my opinion, this is the worst form of cruelty of this disease – says Anna Szczepańska, Lena’s mother.
Rett Syndrome – a rare genetic mutation – occurs in girls and renders them speechless, their legs unable to walk, and their hands making unnecessary movements. – It is an insidious disease, because girls are born healthy. They receive 10 points on the Apgar scale – explains Professor Magdalena Chrościńska-Krawczyk from the Department of Pediatric Neurology at the University Hospital in Lublin.
Lenka’s mother became concerned when the girl did not want to sit down. Eight months passed and she stared at a single point. Only genetic research gave an answer to Lenka’s problems.
Chance for Lenka
The disease is incurable, but a drug that slows down its development was approved in the United States in March. Lenka may be the first child from Poland who will get a chance for therapy. – The drug improves the functioning of children, slows down the development of the disease – explains Professor Chrościńska-Krawczyk, but adds that it is not known how long the drug can work, because it is new.
The therapy costs a million zlotys. Lenka and her family are to fly to Houston in a few days to administer the drug.
Even on Sunday, a million was still missing a large sum, so family friends that day showed up at a charity picnic. – We love Lena like our own child and we want to help raise money for treatment – said Kinga Konatkowska-Walczak, a friend of the Szczepański family.
Internet on the night from Sunday to Monday the collection exceeded the necessary one million zlotysMore than 11,000 people helped.
If Lenka gets the drug, she will have a chance to survive until the gene therapy, which could completely stop the disease. Work on the therapy is very advanced. We want the disease to stop. We are going into the unknown, but it’s a good decision – says Lenka’s mother.
Main photo source: TVN facts