My name is Chris Brannigan and Hasti is my daughter, she has just turned 8 years old and she dreams of being a chef and a dancer. Hasti however has a rare genetic disease, Cornelia de Lange Syndrome (CdLS). CdLS is characterised by reduced growth, global developmental delay, feeding problems, speech and language difficulties hearing problems and, in many cases, limb abnormalities, but it is rare for children with CdLS to become adults who live independent lives, often needing round the clock care for their entire lives. No cure or treatments exist for this terrible disease which occurs in just one in every 30,000 live births, but we are committed to change that so that all children with CdLS, both now and in the future, can enjoy better lives. But to do that, we need your help. We just need £400,000 to pay for the research to create a treatment for this disease which has already started with the Jackson Laboratory in the United States. The clinical trials that will follow, will cost over £2,000,000.
Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth. It’s characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly). Most also experience developmental delays that range from mild learning disabilities to profound intellectual disabilities.
The syndrome takes its name from the Dutch pediatrician who was one of the first to formally describe it, in 1933. It occurs in an estimated 1 in 10,000 live births.
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