What Is Life Like When Lived With a Very Rare Disorder?

“The industry wouldn’t be interested in funding something that would help only a handful of patients.” The market for any drug produce would be small and profits, non-existent.



In July 2008, Neena Nizar gave birth to a healthy baby boy weighing 3.6 kg. Like any new mother, her joy knew no bounds. Nizar is of Indian origin, and her American husband Adam Timm decided to name their new born Arshaan, Persian for ‘a good man’. What made the moment poignant for the couple was that the almost-four-feet-tall Nizar had an unidentified skeletal condition that made her bones bend. Dwarfism, rickets and polio were some of the terms doctors had tossed around since her childhood but no one was certain what the real problem was.

Nizar had a receding chin, short fingers, bent forearm bones and a distorted pelvis and legs – symptoms inconsistent with anything the doctors her Dubai-based family consulted with had seen.

She was told her legs would collapse under the weight of her pregnant body if at all she was able to conceive. “We were considering adoption but then [Arshaan] arrived and we were surprised,” Nizar says. Arshaan’s birth was smooth and all his medical tests were normal. At nine months, he was already babbling, much to his parents’ delight. At one, he was walking.

A year on, the couple conceived again.

In May 2010, Nizar, then four months pregnant, went for an ultrasound that revealed the growth of the foetus’ limbs were off by six weeks. By then Arshaan too had begun waddling. His knees were swollen and his fingers were beginning to look choppy and weak.

Giving it a name

Desperate for answers, Nizar left her job as a high-school teacher in Dubai and returned to her hometown: Kochi, in Kerala. The couple refused to terminate the pregnancy and named their second boy Jahan, Persian for ‘savior’, when he arrived in July 2010.

The next few months were a blur. Nizar eventually found her answer in the consulting room of Sheela Nampoothiri, a pediatric geneticist at Amrita Institute of Medical Sciences, Kochi. It was Jansen’s metaphyseal chondrodysplasia – a progressive bone disorder so rare that there are only 30 known cases in the world; three were Nizar and her two sons. The disorder causes portions of the bones of the limbs to develop abnormally. It is also accompanied by high levels of calcium in the blood.

Nampoothiri remembered her university professor showing her a slide on Jansen’s. Skipping over it, he had told her she was not likely to see a case in her lifetime. But now she was seeing three – all in one family.

“It was pretty devastating,” Nizar says. “No one knew about it and the lack of information was isolating.”

At 32, finally equipped with the knowledge of what her condition was, Nizar began actively looking for a cure and speaking publicly about Jansen’s. She gave her first TEDx talk in Dubai in 2013. In March 2015, the couple moved to Nebraska, her husband’s hometown, in search of treatment and a better quality of life for their sons.

It was also the beginning of a round of painful surgeries for their children. They undergo one surgery annually, after which they have to re-learn how to walk. Soon the bones bend again and the process repeats. The excess calcium also causes toxicity in their kidneys and affects their teeth.

Arshaan and Jahan are boisterous children who laugh a lot. They are also each other’s best friends. They insist on having surgeries together while doing their best to keep up with their schoolwork and peer group. None of this is easy.

Kids their age take being able to run, play, jump and climb for granted, but they’re physically demanding activities that have remained out of bounds of Arshaan and Jahan.

“Because they are young, they are resilient. They love each other tremendously. The boys are always so happy,” Nizar says.What hurts Nizar is the judgement she sometimes gets from people. “The reactions range from surprise to shock. Some say nasty things and ask me why I had the boys.” The technicalities of genetic testing and lack of access can be difficult to explain to people. “I just ask them to look at the boys and tell them that my boys were meant to be here.”

There are several definitions of rare diseases. The WHO defines rare disorders as those that affect no more than 5,000 individuals at any given time. But Jansen’s is rarer than the 7,000 known rare diseases in the world today.

There is not much data about their prevalence. One of the major challenges for anyone with a rare disease is to find a diagnosis. A paper published in the medical journal Lancet in 2008 estimated that the delay in diagnosis could range anywhere from five to 30 years. In Nizar’s case, it took 32.

“‘Just getting an accurate diagnosis is a challenge’ is something we hear about the problem frequently from the patients. It can be frustrating for them,” says Mary Dunkle, vice president of educational initiatives at the National Organisation for Rare Disorders (NORD), a patient advocacy group based in Danbury, US.

It can also get very expensive as patients go from doctor-to-doctor. “At times they are told that the problem is all in their head, that they are exaggerating it,” Dunkle said.

The 2008 study also says that those with rare diseases don’t just experience a reduced quality of life but also have their potential for education and earning capabilities affected. “For most of my life, I did not know I was one of the few people in the world with it. This knowledge and the fact that I am responsible for two kids with the condition has changed things,” Nizar said.

In 2016, Nizar connected with Harald Jueppner, a professor of pediatric nephrology at the Massachusetts General Hospital in Boston. He had been researching on Jansen’s for close to 20 years but had never actually met a patient. When he examined Nizar and her boys, he was able to find one other abnormality. While the boys’ symptoms were consistent with Jansen’s, Nizar did not show the accompanying high calcium levels.

Affects so few

“We call Nizar a mosaic patient, which means that not every cell in her body may have the mutation that causes Jansen’s. That is currently our speculation,” he said. More answers will only come through research and that requires money. “The industry wouldn’t be interested in funding something that would help only a handful of patients,” he explained. The market for any drug produce would be small and profits, non-existent.

For years, Jueppner and those in his lab did not even try to get funding for more research. But Nizar’s interest in finding a cure proved to be a motivation. First, they tried to dig up old research in the area. Apart from Nizar and her sons, the US has only two other patients with Jansen’s.

“Our recent NIH application received a very good score, but this will be mainly for basic research, and we need funding for eventually treating and monitoring patients with this rare disorder,” Jueppner says. “This research will also help understand conditions like osteoporosis and hyperparathyroidism.”

Linking a rare disorder with something that can have universal application is the only way to garner the interest of profit-driven pharmaceutical agencies. “All children with progeria die of the same cardiovascular condition and finding a cure for it may help teach us about normal ageing and hear process,” Meryl Fink, the executive director of the Progeria Research Foundation in Massachusetts, said about a rare genetic condition that causes rapid ageing in children – the same condition Amitabh Bachchan had in the 2009 film Paa). Currently, there are 144 children across 46 countries affected by it.

As Nizar continues to push for more funding and research on Jansen’s, she is also trying her best to give her children a near-normal childhood. Not knowing much about Jansen’s was an isolating experience for her growing up. Now, she says she feels better prepared to make decisions for her sons now.

“I have the condition so I know that you can rise above it. I was not too worried about how their lives were going to be when they were born,” she says. But her boys’ have certain metabolic reactions she never had. Her lack of typical symptoms is also the reason that made her diagnosis so difficult.

Jueppner is currently collecting data on 24 adults with Jansen’s, half of whom are adults who have reached their full bone-growth potential. “The medical condition will no longer improve their growth but patients who can benefit are ones like Nizar’s children, who are still growing,” he said.

Since starting the Jansen’s Foundation in 2015 to connect families and support research, Nizar has flown around US to raise awareness about the disorder. The travelling takes a toll on her; she often has to use a wheelchair. But she’s not going to give up. She has put Jueppner in touch with several patients around the world and with each other. This has helped researchers identify common themes among them and lend support. Arshaan and Jahan have also become close friends with another boy with Jansen’s.

When she first started talking about Jansen’s, some people told her no one would care about a condition that affects so few. But things have since changed: “A lot of people have reached out to us. People are interested in our story.”

She also wastes no time feeling sorry for herself.  “I am a very positive person and very headstrong. We are raising our boys to be strong too. They are aware of their limitations as well,” Nizar said.

A support group

As she grew up in Dubai, Nizar was treated like a normal girl by her parents and siblings. While there were always people who passed comments, she was surrounded by a strong support system of family and friends.

“Dad was a big advocate of education and sent me to school in spite of any hiccups. That equipped me with enough mental strength to get through this,” she said. Trouble with walking as her bones continued to bend during her growing years and taunts from people were some of the major challenges she faced.

While she had a fulfilling professional life as a high-school English teacher in Dubai, she had ruled out the possibility of marriage till she met her husband, Adam Timm, online.

“He wanted me to give love a chance. I thought he must be crazy,” she recalled. They’ve been married for over 10 years now. “People with rare disorders need love just like anybody else. Disability should not be a reason to rule out marriage.”

According to Bob Kafka, Texas state organiser for ADAPT, a grassroots community that organises disability rights activists, the society looks at disabled people as those who are incomplete or different. “The judgment is the worst when a disabled person is with a partner who is not disabled. Those with disabilities also buy into these messages and start questioning their ability to form romantic relationships,” he explained.

For now, Nizar is focussed on bringing families affected by Jansen’s together and pushing for more research.

The NORD website gets a million hits every month, a sign of the number of people looking for information on rare diseases. “Our website and social media are our biggest tools to reach people. That is how most people find more information about rare diseases,” Fink said.

“Finding a cure is years away. We are doing studies in animals that are encouraging,” Jueppner said. His lab has been working on a drug that has showed promising results in mice. If the FDA approves human trials for the drug, then Nizar will be the first adult to receive it.

Until then, Nizar’s not one to spend too much time dwelling on her problems. “We are not a pity party. We choose to live our life productively rather than spend all our time on wondering why.”

Disha Shetty is a freelance science journalist.