Muscular dystrophy: Genetic disease leaves two siblings wheelchair-bound

“The comment that precise diagnosis is only for the parents’ mental satisfaction is insulting,” says father.

LAHORE:

Theirs was a picture perfect family - three healthy, playful children, headed to a bright future.

But before long, cracks started appearing.

Shahid and Saher Zubair’s eldest daughter, Nida, started complaining of severe abdominal pain at the age of 7. Within days, she had a high fever and chest congestion. After being hospitalised, the fever went away but Nida complained of leg pain, and faced difficulty climbing stairs.

She gradually lost her ability to walk and was confined to a wheelchair.

The horror did not end there. It revisited, a few years later, their son Ahmed.

At the age of 9, he went through a similar episode of high fever and abdominal pain. And like his sister, he was eventually confined to a wheelchair.

The children were diagnosed with a rare genetic disorder, a form of muscular dystrophy that weakens muscles and hampers locomotion. In some cases, it has proven to be life threatening.

Unfortunately for the parents, the third daughter, Eman, appears to be headed in the same direction.

She can move and walk around at present, but faces problems in getting up after sitting, and climbing stairs.

Correct diagnosis

Their father, Shahid, said he faces a double challenge.

“I have been trying to convince not only my kids, that they will be fine, but also the doctors in Pakistan,” he said.

“I have been searching about the treatment on my own, with the help of some friends. Hospitals that treat this disease in the US and UK have informed me that patients can be treated, but have to be diagnosed properly first. There are many sub-types of muscular dystrophy (MD). Doctors in Pakistan are convinced that my children have Duchenne MD, but the Singapore National Sciences Hospital diagnosed them as suffering from ‘some problem similar to limb-girdle MD,’” he added.

Shahid said that trials are underway in the US and UK for the treatment and cure of this disease, but he cannot afford to take his children there.

“Nida, who needs Scoliosis surgery to save her life, can be treated at a cost of $100,000 to $120,000. I am trying to do what I can, but it is impossible for me to raise this amount without the help of the state,” he added.

Government’s assistance

On Shahid’s application, the Punjab government formed a medical board comprising Dr Tipu Sultan, assistant professor of neurology at the Children Hospital, Lahore and Dr Ahsan Mahmood, associate professor of pediatrics medicine.

The board examined the children and said in their report: “MD is a broad diagnosis with a number of subtypes. Precise diagnosis is important only for the parent’s mental satisfaction. This might help in further symptomatic and palliative treatment which reduces morbidity and mortality, but is of no material help to the patients.”

The father is furious

“The comment that precise diagnosis is only for the parents’ mental satisfaction is insulting,” he said.

“These are my children and I cannot see them slipping out of my hands before my eyes. It kills me when they go in extreme depression and ask me who would take care of them if I am not around. Two of them cannot even move without assistance, and Nida needs surgery at the earliest to save her life,” he added.

Signs of hope

While doctors in Pakistan are convinced that there is no treatment for MD, a young boy named Sardar Asim Naseer from Sargodha has undergone treatment abroad.

“Doctors in Pakistan said that I cannot be treated. I couldn’t even move freely a few months ago. Someone then suggested to me a hospital in Lebanon. I was treated over there by a team of doctors led by neurosurgeon Dr Nassim Halim Abi Chahine, and now I have recovered to the point that I can drive a car on my own, and move without anyone’s assistance,” Naseer told The Express Tribune.

A senior doctor who constituted the medical board, on condition of anonymity, said there is no policy under which the children could be sent abroad for diagnosis.

“If hospitals abroad write to us that there are 80 to 90% chances that the children will recover, we may send them abroad then,” he said.

Shahid, however, said no hospital in the UK or US could guarantee that the children would recover, without even seeing them.

“I cannot just sit idle so I am fighting against all odds. Maybe this way I can be of some help to those families who have patients suffering from MD amongst them,” he said.

Shahid has a website that discusses, in detail, the children, their history and the disease. The website, www.miracleforthree.com, also has an option to donate for those who want to help the family.

“I am doing all I can to save my children. I am hopeful I will, with the help of people, collect enough money to take them abroad for treatment and keep their dreams alive,” he said.

Published in The Express Tribune, December 14^th, 2012.