Attacking ataxia, one case at a time

Early detection is key to fighting this disease, which can be incurable


Ishrat Ansari September 24, 2015
PHOTO: COMPFIGHT.COM

KARACHI: A big smile spread across Kashif Farooqi's face when he saw me enter his room. The tall, slim, wheelchair-bound 32-year-old even participated in the conversation I had with his mother. Kashif has a rare genetic disorder called cerebellar ataxia.

Kashif's was diagnosed when he was 27 years old. His grandmother, father, two paternal uncles and a paternal aunt suffered from the same disorder. Three of them have already died.

"I never knew my husband had a genetic disorder until we had five children. When my mother-in-law visited my parent's house to seek my hand for Kashif's father she had difficulty walking but when my mother asked she said she suffered from a problem during childbirth," said Kashif's mother, Kulsoom.

Living in constant fear

Kulsoom recently got her youngest son, 24-year-old Salman, married, without consulting a doctor because she feared he might be a gene carrier. "I just left it up to God," she said. "All my daughters are married and my husband passed away 15 years ago due to the same disorder. There is no one else to look after Kashif," she lamented.

Even though the family lives in fear that Salman may develop ataxia symptoms later in life, doctors assure that developing the disorder is not the end of the world. Any illness, if incurable, may cause depression and other behavioural issues among patients but those who accept their ailment can lead happy and successful lives, said assistant professor of neurology at the Aga Khan University Hospital, Dr Mohammad Wasay.

What is ataxia?

Ataxia is caused by damage to the part of the brain that deals with movement, coordination and balance. "The condition is a symptom of an underlying disease. If it is genetic, it is incurable but life expectancy is not low in patients and they can live and even work by using a wheelchair or walker," explained Dr Wasay. The International Ataxia Awareness day is celebrated on September 25 across the world.

"A large number of cerebellar ataxia cases are untreatable but prompt identification of these ataxias, which can be modified or cured by treatment, is important. Thirty per cent of patients come with genetic ataxia while 70 per cent have acquired the condition," said assistant professor of neurology at Dow University of Medical Sciences, Dr Jay Perkash.

Prevention

Dr Wasay said inter-family marriages should be avoided. Dr Perkash explained that if one parent is carrying an abnormal gene, there is a 50 per cent chance that their children will be affected. If both parents have no ataxic symptoms but carry the abnormal gene there are 25 per cent chances that their children will be affected. Unfortunately, gene testing facilities are not available in Pakistan.

A lot of people suffer from ataxia due to side effects of medicines, said Dr Perkash, adding that Vitamin B-12 and Vitamin E deficient people are also likely to suffer from ataxia.

Coping with the disease

"I have many patients who are wheelchair-bound but are living a good life. They not only work but are successfully running businesses," said Dr Wasay.

Published in The Express Tribune, September 25th, 2015.

COMMENTS (1)

SN | 8 years ago | Reply Is it "Cerebellar ataxia" or something else like Huntington's disease? Genetic tests available to make an accurate and definite diagnosis.
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