Finding cure for rare, inherited disorder
Source : https://www.hondaactivindia.com
An eight-year-old boy of the city had been suffering from serious chest congestion, persistent coughing and nasal discharge since birth. Growing up, he contracted a severe ear infection in both ears, and subsequently, lost hearing partially.
His parents, who wished to remain anonymous, said they spent a lot of time going from one doctor to another but none of them seemed to know what was wrong, and ended up diagnosing their child with asthma. However, despite medications, the symptoms didn’t ease. Some even worsened, the parents said.
Eight months ago, the boy underwent a genetic test and a biopsy analysis, where doctors found he didn’t have asthma but a rare inherited disorder called Primary Ciliary Dyskinesia (PCD). PCD is caused by defects in the structure and function of cilia — the tiny hair-like structures required to move fluids and particles in various parts of the body, including the airways.
Since the treatment began, his cough has disappeared though treating the ear infection will take more time.
According to experts, if there are defects in the cilia lining the airways, the body is unable to expel foreign material and clear mucus. This can lead to pulmonary complications. PCD is passed from healthy parents who carry the gene but are not affected to their children through DNA.
According to a study published in the journal, Frontiers in Pediatrics, the estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher as the disease is often misdiagnosed. There is currently no cure for the disease but treatment can help slow its progression.
The boy was put on aggressive treatment that includes antibiotics and nebulized medications (breathed in through a mask). “The focus of the treatment is on the lungs of the child. Apart from medications, physical therapy such as breathing and coughing techniques to clear the airway is also helping,” said Dr Neetu Talwar, pulmonologist at Fortis Hospital, where the child is undergoing treatment, adding that had the disease not been detected in his childhood, it could have led to permanent ear and lung damage.