In 2012, Ali Javed Naqvi got one of the happiest movements of his life when he became the grandfather of a baby girl. At birth, the child was fine and taken to home and later named as Zahra Beau Naqvi.

“When Zahra reached the age of four months, she stopped taking any feed. After consulting a number of local doctors, we decided to take the baby to Dubai for treatment,” Mr Naqvi told Dawn.

After a number of tests, the doctors in Dubai told the family that Zahra was suffering from a rare disease which occurred in one of around 25,000 live births. “Because of the disease (disorder), almost all organs of the baby had almost stopped working,” he said.

Zahra was put on a ventilator but she could not survive more than a few days. “It was really the biggest shock of my life so I started getting information about the disorder,” he said.

“I learnt that there can be a birth disorder in newborns because of a family history or other factors. I also learnt that in the developed countries newborn babies were screened for different diseases but such a facility was not available in Pakistan.”

As a result, the family decided to establish a foundation to help babies born with disorders.

He said it was a long process to get the Zahra Beau (ZB) Foundation registered.

“We are now providing free of cost facility of screening, diagnostic tests and in some cases treatment to children. As the facility of test is not available in Pakistan, we send the samples abroad to diagnose any disease in the neonates.”

He said a laboratory in Jordan was providing free of cost testing facility to the foundation.

“We have informed all the government and private hospitals in the federal capital that if they have any newborn with the symptoms of a disorder, just send us the samples and we will get them tested free of cost.”

He said the foundation had made arrangements to send the samples to Jordan through a courier service and the laboratory was providing the results online within three days.

“As it is not possible for the foundation and the laboratory in Jordan to afford the cost of testing every child, we request doctors to send only the samples of a high-risk child or children having a family history of any disorder,” he said.

During the last six months, over 100 tests were conducted and their results shared with the doctors, Mr Naqvi said.

He said though he had been trying to support people but there was no awareness of the birth and metabolic disorders. Even doctors do not take interest in having such tests conducted.

Sara Aazar, a housewife, told Dawn that her son Moiz Aazar, who is now 11 years old, was born in a private hospital.

“After his birth, the doctor suggested a blood test and when the result came he said the child was totally fine. I visited the hospital many times for vaccination of my child but when he was two months old the doctor said thyroxine should be given to him now,” she said.

Thyroxine is a hormone the thyroid gland secretes into the bloodstream. It affects almost every process in the body, including the temperature, growth and the heart rate.

“I was shocked to know about it. I asked the doctor why he did not tell me about it earlier. The doctor said he was not aware of it as the blood report had been received a bit late.”

Ms Sara said she took her son to a number of hospitals and learnt that had thyroxine been given to him from the first day till five years with the interval of a month, his thyroxine gland would have been developed.

“I did all my best and used all the available resources and as a result my son is now in a better position,” she said.

Dr Ali Raza, who works in a private hospital in Islamabad, told Dawn that in developed countries within the first three days after birth, blood samples of the baby were collected to diagnose any disorder.

“We use a heel prick system to collect four small clots of blood for a test. These samples are tested according to the protocols of different countries because chances of diseases vary from country to country. Through the test, we can diagnose chances of around 50 disorders at the time of birth and can take steps to avoid them,” he said.

Though private labs collect samples and get them tested from abroad, they charge around Rs25,000 for each test. Most of the parents cannot afford the fee so in case of the birth of a high risk child or having a family history of diseases, we send the samples to the ZB Foundation to get them tested.

Dr Waseem Khawaja, the media coordinator of the Pakistan Institute of Medical Sciences (Pims), also said samples of suspected children were sent to the foundation.

“In developed countries, the heel prick test is mandatory. That advanced screening is done through the Tandem Mass Spectrometer (TMS), which is the most significant method for newborn screening,” he said.

“After pricking the heel of the newborn, a few drops of bloods are collected on four strips/papers. Around 70 tests are conducted from these papers to know about any possible disease in the baby. Moreover, these blood strips can be saved for two years to use for other tests.”

He said thyroid disorder was a major problem in Pakistan. At the international level, one case of thyroid disorder is found in 2,500 deliveries but in Pakistan one case of thyroid deficiency is found in every 1200 births,” he said.

“There is no facility to have the TMS test done in Pakistan. In the past, we used to send some samples to Saudi Arabia and India which cost around Rs25,000,” Dr Khawaja said.

“Through the TMS, a disorder can be detected before it starts affecting the brain and other organs of the body. The development of brain is stopped because of the deficiency of thyroid. The symptoms of thyroid deficiency appear at the age of nine months but by that time the growth of the brain is completed by almost 90pc,” he said.

“It requires Rs9 million to treat the child after nine months but if it is diagnosed in the first week of the birth, the disease can be avoided by just spending Rs100 per month. Moreover, in some cases because of deficiency of enzymes babies cannot digest some proteins. So special milk is suggested for them or that enzyme is given to them,” he said.

Published in Dawn, October 9th, 2016