Mother with rare condition leads drive for better diagnosis of genetic diseases

by LAUREN CODLING

A MOTHER suffering from a rare genetic disease is supporting a campaign which hopes to collect data in order to develop tests for populations at high risk of genetic birth defects.

Neena Nizar, 40, suffers from a condition called Jansen’s Metaphyseal Chondrodysplasia.

It is an extremely rare skeletal progressive disease which stops the body’s ability to make calcium.

It affects portions of the long bones in the body, usually the arms and legs, which develop abnormally with unusual cartilage formations and subsequent abnormal bone formation. As a result, affected individuals exhibit unusually short arms and legs and short stature.

Nizar’s two children, Arshaan, nine, and Jahan, seven, are also suffering with the condition. The three are wheelchair users, have regular surgeries to correct bends in bones and are sometimes unable to move around with ease.

The campaign Map the Gap hopes to sequence 100,000 south Asian genomes, an organism’s complete set of DNA, including all its genes, which will enable faster diagnosis for rare diseases.

According to UN figures, a quarter of the world’s population comes from south Asia, yet only one per cent of genetic data comes from that area. It is estimated that 50 million children in India live with genetic conditions.

Born and raised in Dubai, Nizar was not diagnosed with Jansen’s until she had her second

child when she was 32 years old. Throughout her life, she had a series of misdiagnosis from doctors as she did not show typical characteristics of the disease.

While growing up, Nizar endured surgeries all over the world, including the UK and the US, but was never diagnosed correctly.

“My father tried to find information, but if you don’t know what to search for, you rely on doctors,” she told Eastern Eye. “There was so much belief in the doctors, so we lived on blind faith.”

Nizar explained that collecting data from south Asians would help diagnose others who are suffering from unknown diseases.

Data is important in any realm, she said, but especially with undiagnosed and inherited conditions.

“There isn’t enough attention given to these people and their families,” she said.

Nizar said Jansen’s affects her family every day. Her sons are unable to jump, run or play contact sports. She added that the constant surgery and recovery means they are in a state of flux – when they recover and start walking, the bends in the bones reoccur so they

need to have surgery yet again.

“They need a care giver at all times,” she said. “They have to be monitored in their daily activities as something can easily go wrong.”

Now living in Nebraska, in the US, Nizar has set up the Jansen’s Foundation. The charity hopes to raise awareness of the condition, reach out to other sufferers and raise funding for research.

“Naming the enemy is the biggest hurdle,” Nizar said. “The next is how do you fight it and understand its weak spots?

“So setting up the foundation and trying to get a drug to trial is what we are hoping for in the next year or so,” she explained.

“We know more than we ever did and because of that, I am extremely hopeful.”

Visit https://fundrazr.com/MaptheGap to donate to the campaign.