Rare genetic disease found in Kano
Medical experts said the unusual discovery of the hereditary disease, which has no treatment, within a single family will serve to underscore the need for genetic study before marriage, just as it is advised for preventing sickle cell disease. A non-communicable disease, Waardenburg Syndrome, according to doctors is found in one out of 40, 000, […]
Medical experts said the unusual discovery of the hereditary disease, which has no treatment, within a single family will serve to underscore the need for genetic study before marriage, just as it is advised for preventing sickle cell disease.
A non-communicable disease, Waardenburg Syndrome, according to doctors is found in one out of 40, 000, as well as in one in 30 students of deaf school. The disease, which got its name from Dutch ophthalmologist Petrus Johannes Waardenburg, is categorized into four types.
It has various symptoms, including hearing problem, white hair patch or forelock, pale or brilliantly blue eyes, different eyes colour, premature graying of hair and very broad nasal bridge.
Head of Ear, Nose and Throat (ENT) department of AKTH, Dr. Kolo Emmanuel, said the hospital had seen the case once in about six years, describing the recent discovery as “surprising.”
“I first saw a child of about three to four months old. The mother brought him complaining he has hearing problem. During investigation, I discovered the blue eyes and white hair patch,” he said, adding, “I told the mother: ‘this is a very rare thing, do you have other children that have it and she said I have it too.’”
“When she pulled off her headgear, I saw the white forelock, the blue eyes were staring at me and she complained of hearing loss,” Dr. Emmanuel added.
He said the woman further told him that there were other members of her family, among them fathers, mothers, cousins, who were having the same features.
“Two weeks after that they were able to bring about nine people and all of them are complaining about hearing problem. It calls for concern”, he said.
Dr. Emmanuel and his colleague Dr, Abdulazeez Ahmed, who have been seeing the patients, said the family has the Type I form of the disease.
Other than the health problems such as the hearing impairment, limbs abnormalities in Type III and intestinal disorder in Type IV, the disease can be the cause of marital problems, where mothers with blue-eyed children could be accused of infidelity by their husbands, said Dr. Ahmed.
The two doctors, however, said even though the disease had no cure, it can be prevented through genetic testing and counselling, adding that they suspect consanguineous marriages to be the cause of the disorder in their patients.
“People with this trait should not marry themselves, otherwise the tendency is that they may end up bearing children that have Waardenburg Syndrome disease,” said Dr. Emmanuel.
The doctors said the discovery should encourage people to go for genetic test before marriage, even as they pointed out that the teaching hospital was lacking in facilities to conduct such tests.
“We will want to call on local and international sponsors to avail us with such facilities. We will also want to appeal for collaboration with countries like India which has years of experience about the disease, so that we can tap from their knowledge of the syndrome,” he said.
Meanwhile, the doctors said patients with Waardenburg-induced hearing disability can be helped with hearing aid, while those with discoloured eyes can use colour contact lens.
However, another ENT expert, Dr. Salisu AD, said the discovery might not be an indication in the rise of the Waardenburg Syndrome. “The fact that we saw fewer cases before and more now is not an indication that the case is on the rise, it could only be a reflection of improvement in our diagnostic capacity,” he said.
The doctor also impressed on the need for creating awareness among health workers on the disease, so that patients can be detected and referred for better medical attention.