Locking horns with the rarest of rare disease: Neena's story of grit and determination

Jansen's Disease caused by a mutation in the PTH1R gene is a rare progressive disorder where portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphysis) of these long bones. And this disease is there only in 30 people in the world. Unfortunately, Neena Nizar is one of them.

Twenty years ago there was a girl who was featured on Manorama Campus Line. Her name was Neena Nizar and she was the star of the campus. The one who fell down before learning to walk. She fought the world amidst all odds! First rank in Plus two from Dubai, College magazine editor, a regular winner at elocution competitions, prizes in essay writing, debate competition and painting- a few events which made this MA English student a star at All Saint College, Thiruvananthapuram.

A disease that had no name

Born in Dubai to businessman Abdul Karim Nizar and homemaker Sunitha (based in Kollam), her legs started weakening even before her first birthday. She started falling while walking and then it happened, her legs started to curve. Doctors declared that she had Vitamin D deficiency and she had to undergo several surgeries to straighten her legs.

When the treatment at Dubai hospitals remained unsuccessful, they came down to India and tried Apollo Hospital, Chennai. From there to America and London. Despite treating in various countries, her condition remained the same. No one was even able to find a name for her peculiar condition. With time, she learned to live with that disease. There were days when she saw the doctors more than she saw her classmates.

After finishing her MPhil from University college she went back to Dubai and got a job as a teacher. A job she aspired to do. Neena taught differently-abled children and spent a lot of time offering them, motivational classes. It almost looked like she had dedicated her life to them.

And if you thought her story ended here, think again. This was just the beginning. For someone who never even thought of marrying, she eventually found her soulmate in an American and married him. She became the mother of two children. Such regular milestones in everyone's life, seem unlikely to happen in her life.

But when her children were affected by the same illness, Neena and her husband decided to investigate more about this disease. She let the US doctors be their point of research and later founded Jansen’s foundation to treat and rehabilitate such patients. This is her story.

Marriage that worked well

It was while working in Dubai that she met Adam Timm, an American. When he expressed a desire to marry her, she was perplexed and had no immediate answer. She tried her best to dissuade the tall foreigner, explained in detail the impossibility of such an alliance and her own daily struggles with her disease. But Adam had already fallen in love with her ability to help the differently-abled despite her condition. It was her never-say-die spirit that drew him to her. The wedding which was conducted in her hometown in the presence of her parents and brother was a source of amazement for the invitees. After the wedding, they went back to Dubai and their respective jobs- Neena to teaching and Adam joined the Toyota company.

Though Neena knew she didn’t have the agency to have children, she still went to a Gynecologist. As expected, she was advised against it. Neena and Adam decided to adopt a child in the future. One fine day she realised that she was pregnant. Neena was torn between happiness, fear, sadness, and anxiety. She desperately wanted a child and yet she was unable to rule out the chances of the child inheriting her disease. Despite everything, she decided to have the child.

History repeats itself

Arshan, her first child was born in Thiruvananthapuram. He was a healthy baby who weighed 3.5 kg. And he seemed healthy and fit, jumping around the house, bringing relief and joy to his parents. But that joy was short-lived as Neena realised with a heavy heart that he was showing all the signs of having her disease. He was falling while walking and his legs had started to bend. This was the time to come out of the darkness about this mysterious disease. In order to give the best treatment to her child, it was imperative that she got to the bottom of this strange condition. Their search began on the internet. She read every available medical journal she could lay her hands on. Mailed the x-ray and medical reports to every prominent doctor in the world. But they were all united in their verdict- never heard of this condition before.

Darker days ahead?

Those were dark days for the couples. They had lost hope and it didn’t help that Neena was awaiting the birth of her second child. During the trimester it was clear from the checkups that her second child too was a victim of this disease. Therefore the couple awaited their son with bated breath, understanding too well the difficult road ahead of them.

It was during this time that Neena’s dad told them about this Pediatric Genetic Specialist Dr Sheela Namboothiri at Amrita Medical Institute. A fully pregnant Neena visited the doctor with Arshan by her side. And there, it was out in the open. The doctor had finally diagnosed the illness which stunted the growth of hands and legs, which made the bone bend, which deformed the shape of your face, which alarmingly increased the calcium levels in the blood. And it was a rare disease called Jansen’s disease.

How did Dr Sheela diagnose this rare condition which even the best doctors around the world were unable to figure out? There is a story behind it. Dr Sheela had attended a seminar on Skeletal Dysplasia in Germany. While attending a class on bone ailments, the professor had shown an X-ray and explained-“This is an X-ray of a Jansen’s disease patient. But you don’t need to study about it as you are unlikely to meet one during your lifetime.” It was the doctor’s photographic memory of that X-ray that changed Neena’s life.

The results of Neena’s blood tests were sent to doctors in America and Germany, and they confirmed the disease. Apparently, there were only 30 Jansen’s disease-affected people in the world. “Am I such a rare specimen? –This was Neena’s first reaction.

A helping hand

As expected, their second son Jahan was born with these ailment symptoms. But his parents were disheartened. At least now they have a name for this disease. The next step was to find a doctor to treat the three of them. It took months to eventually get hold of a doctor in US- Dr Harrold Jupiner, the endocrinologist at Harvard Medical School. He has been researching this disease for the last 20 years. In 2015 they shifted from Dubai to the US.

The Jansen’s patient has no capacity to absorb calcium into his/her body. And that leads to brittle bones. The calcium in the blood will turn into kidney stones and affect the functioning of the kidney. What Dr Jupiner developed was a treatment that helped to control the calcium in the blood and stop the running of Parathyroid Hormone Receptor. But the doctor hadn’t yet come across a Jansen’s patient to try out this treatment. And that’s when he met Neena and her children.

Neena was ready to be his guinea pig and her words moved him—“My children should get treated. They should get a respite from the various surgeries they are forced to undergo. For that, you can try any kind of experiments on me.”

After the initial fear and anxiety, the doctor and his team were eager to get on to this. They first experimented by testing on Neena and her children’s blood. During the period when the doctors were experimenting with medicines Neena completed her Ph.D. in Educational Leadership from US University. Considering the amount of time required to produce medicines in the US, Neena managed to convince the scientists and government of the importance of emergency medicine availability. The medicine development is in its final stages and if everything goes according to the plans, Neena is hopeful of getting the medicine by the end of this year.

Jansen’s Foundation

It was in 2017 that Neena founded the Jansen’s Foundation for the treatment and rehabilitation of Jansen’s patients. Neena is the foundation’s executive director. Dr Jupiner and his team received 50 lakh dollars from the government for this experiment. Along with this, they have found 8 more people affected by Jansen’s disease. Now they are part of that Jansen’s family. Truly, Neena is God’s special child!