Hafidz and Family’s Lonely Battle with Cornelia de Lange Syndrome
April 17, 2013
Rahmalia Rezki Wenny takes care of 14-month old son, Hafidz, by monitoring his saturation levels. As a patient with Cornelia de Lange Syndrome, she knows that if his levels get too low–she’s supposed to administer oxygen.
“His main health issues are his breathing and feeding problems,” says his mother, who lives with him in Indonesia.
Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. CdLS does not discriminate—it’s seen in all races and ethnic backgrounds. The occurrence of CdLS is estimated to be one in 10,000 live births.
It is often termed as Bushy Syndrome and is also known as Amsterdam dwarfism. It is a genetic disorder that can lead to severe developmental anomalies. It affects the physical and intellectual development of a child. Exact incidence is unknown, but it is estimated at one in 10,000 to 30,000.
Hafidz experienced severe developmental delays. He can not talk, sit up straight or lay on his tummy.
“Our challenge as parents is that this disease is not well known, and not all pediatricians have treated children with CDLS. It is so rare and so difficult to find any child who has the same disease.”
In fact, the Wennys have met no other families with similar children and rely mostly on CDLS blogs to hear advice and similarities between patients.
“I hope I can look after Hafidz well, and I hope Hafidz can grow to become a strong boy.”
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