A mother feels the clock ticking in her efforts to halt a rare disease she knows too well

Eight-year-old Arshaan Adam squints against the brightness as sun spills into the atrium of Children’s Hospital & Medical Center.
The boy leans over the fountain in the lobby and the cuffs of his too-long sleeves dip into the water. His shadow stretches taller than his slight 3-foot-6-inch frame. He’s a head shorter than his third-grade classmates, and his joints bend and bow and jut out at unnatural angles.
Arshaan’s clutching a penny, rolling it in his small palm. His fingers hurt. So do his wrists, his knees and his back. It hurts to walk, too — it’s more of a waddle now that his legs are so curved. Before Arshaan zips off in his wheelchair to a hospital room on the sunny morning, his eyes close. His head bows, his fingers open and the coin falls into the water with a small splash.

Jahan Adam, 6, left, and Arshaan Adam, 8, pose for a portrait in their favorite superhero costumes. The brothers have an extremely rare disease called Jansen's metaphyseal chondrodysplasia, which affects the bones and is caused by a genetic mutation. Though not terminal, the diagnosis means chronic pain and multiple surgeries to straighten weak bones. The disease also can lead to kidney problems, caused by the high levels of calcium in the bloodstream

Jahan Adam, 6, left, and Arshaan Adam, 8, pose for a portrait in their favorite superhero costumes. The brothers have an extremely rare disease called Jansen's metaphyseal chondrodysplasia, which affects the bones and is caused by a genetic mutation. Though not terminal, the diagnosis means chronic pain and multiple surgeries to straighten weak bones. The disease also can lead to kidney problems, caused by the high levels of calcium in the bloodstream

Neena Nizar stands in the shade watching little Arshaan. She knows her son’s wish — it’s the same one he has blown into birthday candles, the same one he and his 6-year-old brother, Jahan, ask Santa for every year: a cure for Jansen’s metaphyseal chondrodysplasia, the rare, progressive form of dwarfism that afflicts Neena and both boys.
Neena has the same wish — it’s the reason she uprooted her young family two years ago from the bustling desert city of Dubai in the United Arab Emirates to a quiet suburban Elkhorn neighborhood.
It’s why the 38-year-old mother stays up until 2 in the morning, sending email after email to doctors, researchers and pharmaceutical companies. It’s why, in between her part-time job with disability support services at Metro Community College, her work on her dissertation for her doctorate in educational leadership at Creighton University and her role of chasing after two young boys, she has found time to start the Jansen’s Foundation, a nonprofit to raise awareness for the disease and funds to support further research.

As the boys grow they have to undergo numerous surgeries to correct the bends in their bones so that they are able to walk. "But it will not stay straight even after surgery because, again, as the new bone forms, you're going to have the same problem," said their mother, Neena Nizar.

As the boys grow they have to undergo numerous surgeries to correct the bends in their bones so that they are able to walk. "But it will not stay straight even after surgery because, again, as the new bone forms, you're going to have the same problem," said their mother, Neena Nizar.

For 32 years, Neena hadn’t even heard of Jansen’s. So for her, fighting to grant Arshaan’s wish is about even more than a mother’s love. It’s about making up for lost time.
“I know what it’s like to be a child and deal with this disease,” Neena said. “I don’t want to watch them go through that. It makes this all the more painful.”

Neena Nizar, whose Jansen's went undiagnosed in her own childhood in the United Arab Emirates, watches her sons whisper to each other while playing a game with superhero figures in March at their Elkhorn home.

Neena Nizar, whose Jansen's went undiagnosed in her own childhood in the United Arab Emirates, watches her sons whisper to each other while playing a game with superhero figures in March at their Elkhorn home.

It’s fall 2010, and Neena is sitting in a hospital waiting room in southern India. She’s soothing 1-month-old Jahan in one arm and working to keep 2½-year-old Arshaan entertained as the wait stretches into five hours. The family has been driving seven hours each way to this geneticist’s office every other day since Jahan was born. After months of emailing the boys’ X-rays to hundreds of doctors all over the world, after traveling to experts across the United Arab Emirates and India, after visits to holy men for advice, this geneticist feels like a last resort — one final attempt to get an explanation for Arshaan’s sudden regression and Jahan’s delayed growth.
Sitting in that waiting room, Neena fears that her boys inherited much more than her large, expressive eyes.
Standing less than 4 feet tall, Neena has bones that are bent and misshapen. If not for three dozen corrective surgeries, she wouldn’t be able to stand — her legs would have bowed too far.
Until now, Neena thought her condition wasn’t hereditary. After a series of other misdiagnoses as a child, doctors had told her she had Ollier’s, a condition that causes benign tumors on the growth plates, and one that wouldn’t be passed on to her children.
Neena’s thoughts wander to her own childhood in Dubai — the crutches and wheelchairs, the countless times she wished she could be like other kids.
But then she thinks of her father, how he flew her all over the world for surgeries, how he handmade special leather boots to cover her thick braces, how he carried her to all of her classes through her final years of high school. Even how he laid her down on an ironing board, desperate to find a flat surface that might keep her bones straight.
“He did everything in his capacity to make sure he tried to stop what was happening to me,” Neena said. She would do the same for her boys.

Neena’s thoughts are interrupted as the family finally is called into an examination room.
“I think I know what this is,” Neena remembers the doctor saying. Neena was incredulous — she was used to dead ends.
The geneticist recalled an X-ray her college professor had briefly flashed across the screen, explaining the disease was so rare, his students would never encounter a patient with it.
“I think this is Jansen’s,” the doctor said.
Neena and her two sons are three of the fewer than 30 people around the globe who have been diagnosed with Jansen’s, which is caused by a genetic mutation. Though not terminal, the diagnosis means chronic pain and dozens of corrective surgeries to straighten weak bones that grow in serpentine curves, fraying at the ends like old paintbrushes. The disease also can lead to kidney problems, caused by the high levels of calcium in the bloodstream.
For the two Elkhorn boys with the wide brown eyes, quick smiles and an obsession with superheroes, the diagnosis means always being the smallest one in their classrooms and not being able to join friends at recess for games of basketball. It means every vacation is planned around a surgery or a doctor’s visit. It means being unable to take medication for the pain, for fear that it would further stress their kidneys. The surgeries likely will stop once the boys stop growing, but even then, their bones will be so weak they may not be able to walk.
“This disease is gruesome in the fact that it just slowly strips the boys of what they want to do,” Neena said. “I think they are just now getting old enough to realize that.”
A doctor in Boston has developed a promising treatment in mice with the same genetic mutation that causes Jansen’s. The treatment could halt the progression of the disease and make the bones strong enough for corrective surgeries.
But getting it approved for human trials could take years and millions of dollars. For the boys, time is running out — to be most effective, Arshaan and Jahan will need the treatment before they hit puberty, when bones grow the fastest.
“This fight, for first a diagnosis and then a cure, has already consumed years of our lives,” Neena said. “Now we need a miracle.”

Arshaan, left, and Jahan climb onto a windowsill to look at the view from their hospital room before undergoing their second round of pamidronate intravenous infusions at Children's Hospital & Medical Center in February. The infusions help to regulate the amount of calcium in each boy's bloodstream.

Nurses attempt to connect an IV to Arshaan's left arm before starting an infusion. Small veins that tend to burst frequently and a fear of needles make this process traumatic for the brothers.

Nurses attempt to connect an IV to Arshaan's left arm before starting an infusion. Small veins that tend to burst frequently and a fear of needles make this process traumatic for the brothers.

Neena thinks maybe it was fate that guided a fundraising letter across the globe from the United Arab Emirates to the middle of the United States. It was 2005, and Neena was working with a support group for families with special-needs children in Dubai. After posting the letter in a Yahoo messaging group, she received a response from a man living in a place called Nebraska. She had heard of the state; years ago, she had received a scholarship to study at Creighton University, but had to turn it down because of her many surgeries.
The man wanted to know more about her work and about her life in Dubai. After communicating for seven months, Adam Timm sent Neena an email that read, “I want to settle down.”
“Good for you,” Neena replied.
He clarified: “I want to settle down with you.”
After some convincing, Neena agreed to let Adam visit her world in Dubai. They were married within two weeks.

Adam Timm brushes son Jahan Adam's teeth before bedtime in March.

Adam Timm brushes son Jahan Adam's teeth before bedtime in March.

“When he took my hand for the first time just to help me cross the road, I thought, ‘Wow, this was meant to be,’?” Neena said.
“You’d given up on love and marriage and the idea of being a mother,” Adam told her then. “I wanted you to have that chance.”
Still living in Dubai, the couple talked about starting a family, about adopting. Doctors told Neena she never would conceive, and if she did, she wouldn’t be able to carry the child full term — her legs would break under the weight. But two years after Neena and Adam married, the couple welcomed a healthy 9-pound baby boy — with no complications. They named him Arshaan, Persian for “hero.”
But a year and a half later, Neena noticed the boy’s knees were swollen, his feet curling.
Her toddler’s once long and tapering fingers now were short and stubby. When she held his hands she could feel gaps where bones should be. But doctors kept saying there was nothing wrong — these were just the worries of a first-time mother.
And then she found out she was pregnant again. Ultrasounds showed the baby’s bones weren’t developing properly. Doctors suggested she terminate the pregnancy.
In fall 2010, Jahan — Persian for “world” — was born with short limbs, weak bones and high calcium levels in his blood.
“Doctors could no longer tell me this was nothing,” Neena said. “Suddenly, everything was unraveling.”
Sometimes, strangers ask Neena why she had a second child if she knew the risks. But Arshaan’s symptoms didn’t appear until she was pregnant with Jahan.
Instead of a long explanation about not knowing whether she could pass on her condition, she just wants to tell those strangers, “Look at my two boys. Look at their bond.”
“It’d be a very lonely world for Arshaan if he had to deal with this by himself,” she said. “When I see the boys together as friends, as best buddies, as caretakers for each other, I know that there was a bigger plan involved.”

Dressed as superheroes, Arshaan, left, and Jahan play in the hallway at the Omaha Conservatory of Music before their piano lessons in January.

Dressed as superheroes, Arshaan, left, and Jahan play in the hallway at the Omaha Conservatory of Music before their piano lessons in January.

The night after she first heard the words in that geneticist’s office, Neena sat in her mother’s home in rural India and Googled “Jansen’s metaphyseal chondrodysplasia.”
There, amid all the links to academic articles about the disease, was a blog by Dona Krystosek, a woman in a coastal town in Mississippi. Her posts followed then-4-year-old “Little Levi,” the only Jansen’s patient in America.
The words about Levi’s high calcium levels and bulbous joints and bending bones blurred through Neena’s tears.
“He looked exactly like Arshaan,” she said. “I knew then for sure that this was our condition. I knew then we weren’t alone.”
Neena wrote to Dona that night — the first of what now are daily emails, texts and phone calls between the two mothers and best friends.
She asked Dona about the “wonder drug” mentioned in the blog — this experimental peptide infusion developed by Dr. Harald Jueppner, chief of pediatric nephrology at Massachusetts General Hospital.
“Now the battle begins to find a way to provide the best smiley life for my boys,” Neena wrote.

On their way back to their home in Dubai, Neena and Adam discussed it: They would have to move to the U.S. to get the boys to researchers and surgeons.
Within a few days of the diagnosis, Neena started the application for a U.S. visa. Twice she was denied.
Though Adam was a U.S. citizen, he had been living in Dubai for four years. He would have to prove he could support Neena and the boys in the U.S. So in 2013, Adam moved without her, hoping that if he got a job in the States, her visa would have a better chance.
“I cried every day,” Neena said. “Here I was alone with two boys with bones that were bending right in front of my eyes.”
Finally, in 2015, visa in hand, Neena and the boys made the 7,500-mile journey to their new home in Elkhorn to join Adam. He works nights at Omaha State Steel so he can help out in the morning, lifting the boys into the bathtub, getting them dressed and fed and ready for school.
“I’m kind of her henchman,” Adam said. “When we first met, I immediately fell into this role of supporting her. As she’s constantly calling someone or going somewhere to advocate, I’m doing the things she can’t do.”
That means doing the laundry and the dishes and helping the boys with everything from getting out of bed to brushing their teeth.
“It can get exhausting, but I’ve never had as much fun as I have with the boys,” Adam said. “And watching Neena work this hard to help people — it’s why I fell in love with her.”
Settling on the East Coast would have put the family closer to the boys’ orthopedic surgeon in Delaware and the researcher in Boston.
“But we want to stay here,” Neena said, rattling off a list of all the reasons she loves Elkhorn and the boys’ school, Hillrise Elementary in the Elkhorn district.
“Where else would we go to get the kind of support we get from this community? This is where my sons are growing up.”
She has found support at Children’s Hospital & Medical Center, too. Dr. Maegen Wallace, an orthopedic surgeon who has a son at the boys’ school, volunteered to be a board member for the Jansen’s Foundation. She had operated on Arshaan years ago as a fellow at the Delaware hospital where the boys go for surgery.
“It’s kind of full circle that we both ended up in Omaha,” Wallace said, adding that Neena has taught the doctors at Children’s about Jansen’s and skeletal dysplasia.
The boys sing in school concerts and take piano lessons once a week. This month the brothers will start their second season in a baseball league for children with disabilities.

An X-ray shows Arshaan's hand bones

An X-ray shows Arshaan's hand bones

In class, Arshaan writes rhyming poems about his love for his younger brother and about his rare disease, and how though he’s small, his heart is tall.
The two spend hours drawing Transformers and superheroes, often dressed in their own Batman and Spider-Man costumes. Arshaan thinks maybe he’ll be an artist or engineer when he grows up, but Jahan is still considering a career as a ninja.
“Sometimes when you look at them, they look like normal kids, just brothers playing,” Neena said. “You have to remind yourself they aren’t.”
But the reminders are there: the leg braces, the wheelchairs, the long dark scars running up and down their legs from the several surgeries and the metal fixation rings once drilled into their tibias.
And then there’s the cost. The several surgeries have cost hundreds of thousands of dollars, Neena estimates. Medicaid and Supplemental Security Income for disabled children have covered the bulk of that, but each trip to the East Coast for surgery costs the family about $10,000. Taking months off work for procedures and conferences has drained the couple’s savings.

Jahan, left, and Arshaan play at home in their superhero costumes in January.

Jahan, left, and Arshaan play at home in their superhero costumes in January.

Neena has private health insurance, but she needs foot surgery, and the insurance wouldn’t come close to covering it. She’ll have to wait until she becomes a U.S. citizen next year before she can apply for Medicaid.
As her foot continues to bend, walking has become increasingly painful. Like her boys, she uses a wheelchair to go long distances.
“People say I should just accept this, just learn to live with it,” Neena said. “I don’t want my boys to just have to live with it. I want to change it.”
That’s why three months ago Neena launched the nonprofit with the goal of raising enough money to push Dr. Jueppner’s experimental drug to human trials by the end of the year.
“It’s such a rare disease, I sometimes wonder who would be interested in funding this cure for something that affects just a few children,” Neena said.
But further research into Jansen’s could lead to new findings about bone development, potentially leading to a better understanding of conditions such as osteoporosis. That’s the pitch Neena gave to pharmaceutical companies in mid-April at a Washington, D.C., conference to support research and funding of “orphan drugs”: pharmaceuticals that may go underdeveloped because they have limited profitability.
That was just one of several conferences Neena has attended over the past year. Between the researching and the traveling and the worrying, Neena gets maybe four hours of sleep a night.
Jueppner cautions her to take care of herself as she does her boys.
But it’s not just about herself, Neena clarifies. She’s doing this for her “army of Jansen’s moms.”
There’s the mother in Australia who sleeps next to her son, fearing that the calcium deposits on his face will stop his breathing. There’s the mom in Paraguay who sends photos of her recently diagnosed daughter — a little girl who loves to dance. And, of course, there’s Dona, who fears the day her son Levi realizes he’s too short to be the Coast Guard rescue swimmer he dreams of becoming.
“In the end, even if this fight doesn’t end up helping my boys, I won’t stop,” Neena said. “If I can help those other children, those other moms, then I will do that.”
Jueppner said it’s Neena’s determination driving the recent interest in his research. He had studied Jansen’s for two decades, but Neena and her boys were the first patients he had ever met.
“We didn’t have the financial support to conduct preclinical trials, and we didn’t have any impetus for this research until Neena got involved.”
Still, Jueppner said, it could be years before the treatment would get to Arshaan and Jahan. And that’s only if the team gets the necessary funding.
“It’s heartbreaking to tell them they have to wait. But I don’t see Neena giving up,” Jueppner said.

At Children's Hospital & Medical Center, Arshaan, left, and Jahan tell each other secrets before undergoing infusions to regulate high blood calcium levels. "Like all rare diseases, there are difficulties that the family has to undergo. There are sacrifices that we make as a family," their mother said.

At Children's Hospital & Medical Center, Arshaan, left, and Jahan tell each other secrets before undergoing infusions to regulate high blood calcium levels. "Like all rare diseases, there are difficulties that the family has to undergo. There are sacrifices that we make as a family," their mother said.

It’s early afternoon, and Arshaan has climbed into Jahan’s hospital bed at Children’s. He hugs his brother and holds up a doll he made with the help of hospital staff. The doll is wearing a cape, and Arshaan has drawn a “J” on the chest.
“It’s Super Jahan,” he says to his little brother, who responds by holding up his own doll, colored to match. “And Super Arshaan,” Jahan says, flying the doll through the air.
An hour later, the tone changes as the nurses come in with needles. The boys start to cry and then scream, hiding their arms behind their backs.
They have been through this before — it’s their second infusion to reduce the calcium buildup in their blood. They know it often takes many pokes before nurses find a vein big enough for the IV.
“Why is this happening to me?” Jahan screams through gasping sobs. “Mom, save me!”
Neena swallows hard — she hates this part, too. She stretches to reach over the edge of the bed and touch her young son’s arm.
“It’s OK, I’m here,” she said. “You are so brave. And look, Super Arshaan is right here with you.”
Jahan quiets a bit, squeezes the doll and wipes the tears from his eyes. It takes a few pokes, but the nurses get the IV in quickly.
The infusion runs for hours. As the sun sets over Omaha, the two brothers drift off, still cradling their super-brother dolls.
Neena stays up, sending a few more emails, posting a few more photos to the Jansen’s Foundation Facebook page, sending a final text to Dona.
Then, finally, Neena curls up on the bench in the hospital room and closes her eyes. Tomorrow, she will start again. With all the power of a mother’s love, she will keep fighting for these boys. For their wish. For a miracle.
After all, that’s what superheroes do.

Arshaan, left, and Jahan explore the gift shop at Children's Hospital & Medical Center. "So why am I so passionate about driving for a cure? People say you should just accept things the way they are and love your children," Neena Nizar said. "I do love my children. I love my children tremendously. But I also know what it's like to have pain every day. To not be able to climb up stairs or not be included in certain areas because your feet hurt or your body aches. I do know what it's like." She and her sons make up three of the five confirmed cases of Jansen's in the U.S.

Arshaan, left, and Jahan explore the gift shop at Children's Hospital & Medical Center. "So why am I so passionate about driving for a cure? People say you should just accept things the way they are and love your children," Neena Nizar said. "I do love my children. I love my children tremendously. But I also know what it's like to have pain every day. To not be able to climb up stairs or not be included in certain areas because your feet hurt or your body aches. I do know what it's like." She and her sons make up three of the five confirmed cases of Jansen's in the U.S.

Source: http://dataomaha.com/bigstory/story/131


Pics by Megan Farmer

How Miracle Flights Help Us Roll With My Son's Rare Disease

I remember hanging on to the toes of my mother as she died. Her battle with cancer was coming to an end and I felt the need to tell her who all was in the room. My voice was close to a yell. ”Dad’s here, Paw Paw’s here, Me Maw’s here and I’m here!” I went on to tell my mother that it was OK. That she could go. I was 22 years old and I was granting my mother permission to die. Like what I said had any effect on how things were going to play out that day. I had no control. I was just rolling with it.

Fast forward 14 years later, as I sat on edge of a hospital chair listening to the doctor say that my child, Levi, was probably going to die. He was only 8 days old. I did everything right during my pregnancy. How could this be happening to us? I do not remember much from that day after the doctor talked to us. I zoned out shortly after he said, “…if this is the case, there is nothing we can do.”

What do you mean, nothing you can do? You are a doctor! Doctors fix patients. I don’t know if this did not sit well with me because I was a nurse or because I was a mother. But either way, my husband, a registered respiratory therapist, and I went home and did research on what they thought Levi had. We talked about it and decided together. If this is what he has, he is going to die at home with us and his sisters. The ball was officially back in our court as we rolled with it.

Long story short, that doctor was wrong. I was using special feeders to feed my son every two hours and he was hanging in there. It would not be until his first birthday that a doctor at a different hospital would question yet another possible diagnosis. At this point, we had already had two misdiagnoses. When the doctor entered the hospital room and kindly asked me to sit down, I thought, “Here we go again.”

He said, “Your son has Jansen’s metaphyseal chondrodysplasia.”

My response was, “Are you sure?”

He said, “Yes. I sent two different vials of blood to confirm it.” It had been genetically confirmed. But I had never heard of this condition and I was a nurse.

He went on to tell me that it was a very rare disease. At the time of my son’s diagnosis in 2007, he was one of 17 cases worldwide. Let that sink in. I had a ton of questions he could not answer. All he could tell me was that it was a type of degenerative, debilitating dwarfism. My son was going to be in pain. This was information I could not roll with.

The more research I did on my son’s ultra rare disease, the more I realized I was just rereading the same handful of articles reposted on different sites. The little bit of information I found was terrifying. It was hard to roll with. I realized I was going to have to share my son’s journey, pictures and information if I wanted to help future parents of children with JMC.

I also knew I had to find a doctor who had treated a patient with this condition. I had to find a doctor who would have an idea of what to do. I was a mother on a mission to get the best possible outcome for her child. It took a while, but we finally found that doctor. He was in Chicago, Illinois, and we lived in Ocean Springs, Mississippi.

We started flying up to Chicago from Mississippi when my son was only 18 months old. The doctor was great. He had some ideas on a treatment plan that would help my son get the best possible outcome since there was no cure for his condition. We were flying up to Chicago every six to eight weeks for IV treatments. We quickly depleted our savings account and maxed out our credit cards. Worry set in. We knew where to take him for treatment, but we were running out of the funds to get him there.

Then one stressful night, lack of sleep yielded a 2 a.m. internet search find that changed my worry into instant tears of hope and joy. It had been a long time since I had cried happy tears, but I just could not stop the tears of relief from streaming down my face. “Miracle Flights” will forever be etched in my mind with that joyful moment. We finally had a way to get him to out-of-state medical care, and it felt great! I could once again roll with it.

My son Levi is now 11 years old. Miracle Flights has provided him with 15 flights for medical trips so far. In June 2016, my son was Miracle Flights’ 100,000th flyer. Our family was grateful to help Miracle Flights celebrate this huge milestone. There is no way we could have done it without the help of Miracle Flights. Although my son will forever be under a doctor’s care and there is still no cure for his condition, we know that Miracle Flights will continue to help him get to the distant medical care as he needs. Unlike other children his age with his condition, he is able to walk, and I believe he has a better quality of life because of Miracle Flights.

If I could share just one thing with any other parent going through a rare disease diagnosis, I would tell them about Miracle Flights. Chances are, those families will have to travel to distant specialized medical care. They already have so much to deal with. Miracle Flights is a great resource for those who qualify.

It’s amazing what a 2 a.m. internet search did for our child; it allowed us to find him a way!

— Dona Krystosek, RN
Family Advocate, Miracle Flights

Learn more at Miracle Flights.



Levi on his medical journey thanks to Miracle Flights

Levi on his medical journey thanks to Miracle Flights

Mother With a Disability Finds Hope in Two Disabled Sons

"We can feel isolated and powerless when living with a rare disease, but what if your story begins to bridge the barrier or open a way for someone to connect? What if sharing your story offers a glimmer of hope to someone standing at the edge of desolation? …What if your story starts an important conversation?” –Neena Nizar

First Comes Love

Neena Nizar’s story is a love story. 

It began with meeting Adam. Adam lived in the United States, and Neena lived in Dubai. There was a spatial difference between them, but more than that, there was a physical difference. Neena had a rare disease, one that caused difficulties walking and required frequent doctor visits. When Adam saw Neena for the first time, he asked her to marry him and to “give love a chance.” Neena didn’t want her disability to inconvenience the man she loved. But she clung to his words and took the leap with him.

Then their love grew by two. Arshaan, a beautiful and healthy baby boy, came into the world, the spitting image of his mother. As Neena was carrying their second son, she noticed that Arshaan’s ankles and wrists seemed to be widening abnormally and his chest narrowing. A doctor would later tell her she was imagining it. Then, just four months into her second pregnancy, she learned that her unborn son’s limbs were about six weeks off developmentally. It was suggested that she end her pregnancy.

It was love that built this small family. It was love that kept her second son alive. And it was love that would keep them strong into their

The Diagnosis

The disease that was causing developmental delays in her baby was the same disease that was causing changes in his older brother–similar irregularities Neena herself possessed. A doctor recognized it from a slide her professor had shown in class. In fact, the professor skipped it quickly, saying, ‘this is so rare, you will never come across a case in your lifetime.’ And yet, here they all were, exact matches to the rare disease. Finally, they had a diagnosis: Jansen’s Metaphyseal Chondrodysplasia. It was genetic, and Neena had unknowingly passed it on to her two sons.

“Personally, it was an absolute shock. I had never wanted to marry for fear of the anxiety of not being able to have a child,” Neena said. “When doctors had said I never would carry a child to term, my world shattered. Just as we were considering adopting, Arshaan came along, bright-eyed and full of health. He was the biggest baby born in the ward on July 3, 2008. To watch all that unravel two years later was like watching ominous gray skies chase away the sun.”
Neena lived for 32 years with a misdiagnosis, something she called a “mysterious unnamed villain inside my body.” Rare diseases are, by definition, infrequent, so the chances of finding someone with the same diagnosis is slim. Of the 7,000 rare diseases in the world, only 30 known cases of Jansen’s exists. Neena and her sons are three of them. Still, Neena says, “This rare journey doesn’t have to be a lonely one.”

Coming to America

Many people may struggle to know how suffering, loss, or pain could be part of a larger plan.

“When I was 16, I received a full scholarship to study at Creighton University in Nebraska. At the time, my body was weak from surgery and my parents refused to send their only daughter so far away. I carried the scholarship letter forever,” she said. “At the time, my mother had said, ‘If you are destined to study in America, your path will lead you there.’ Ten years later, I met Adam, a simple Nebraskan man, who asked me to marry him. Surprisingly, both of us wanted to make Dubai our home, but when we got a diagnosis for our boys, we knew we had to travel back to Nebraska, and in the fall of 2018, I will graduate from Creighton University with a doctoral degree in educational leadership.”

Neena remains adamant that, though it is a difficult path, it is a path worth traveling. Without her sons, Neena may never have received a diagnosis. And without their participation in an upcoming research study, a cure for Jansen’s may not even exist on the horizon. 

A Letter for Her Son

Neena wrote a letter to her youngest son after his birth:

“For months leading up to the birth, Adam and I had decided on calling you Armaan. But as they handed you to me on that fateful afternoon five years ago, I had no memory of our plan.

I couldn’t think through all the tears. The tears that came from knowing that I finally had a diagnosis after 32 years. The tears that came from knowing that you too, like your older brother, would have a very different life from the one we had planned for you.

I can’t remember much of what happened in the hospital room that afternoon. But I do remember insisting that your name be Jahan. The sudden and insistent name change caused a little flutter. Post-partum depression, perhaps? But nobody was ready to argue with a grieving mom, and as the family hastened quietly to make that correction on your birth certificate, I too made a pact to silence my troubled heart.

‘Jahan,’ we later learned, was a Persian name meaning, ‘protector’ or ‘savior of the world.’ When I think back now, I smile and remain comforted by the knowledge that God had been by our side all along and had a better plan for you than we did. 

For you didn’t come with just a diagnosis or a statistic, a mere condition to be boggled over. Instead, you came with a steely resolve and a silly smile to warm my aching heart. You came to complete our family and to be a wonderful friend to your brother. For God knew we needed you.

He knew we needed you to come along to make things right.


How BraunAbility Became Part of the Family

With Neena and her two sons in wheelchairs, the family needed help getting out of their house and back into the world. BraunAbility made a van perfect for them: with enough space for three wheelchairs and one that Neena could drive when Adam wasn’t available.

It was perfect; perhaps BraunAbility, too, was part of this love story.

“The van or ‘Speed Demon’ is our trusted companion. I don’t want to think about how we got around before SD. We could not take our wheelchairs anywhere, as we have three of them,” Neena explained. “The van allowed me to get to work again! It allowed us to move around as a family and even take our wheelchairs on medical trips. I have not used a home health aide since getting SD, as the boys are now more independent and don’t need to be transferred in and out of a car…they can just drive right into SD.”

As she drives, her mind is wrapped around finding a cure. It feels like a race against time because it is. With every day the boys grow, they are risking more corrective surgeries and more days of illness. Neena created The Jansen’s Foundation to raise more money to fund the research that could save their family. Driving, though, is a brief reprieve from the constant reminder of the rare illness that drives their lives.

I love driving,” said Neena. “I enjoy the feeling of independence it brings to someone who has a disability; it is assumed that your mission is simply to be a passenger. But here you are taking charge of your life. That’s a big thing.”

I Need a Hero

Neena admits she has her moments of doubt. “When I see some of the pain my boys go through, I wish I had never met Adam and taken the plunge to marry and become a mother. But at those very moments of hopeless despair and disillusionment, I am always reminded that there is a bigger plan and purpose to everything that is happening in our lives.”

Today, Arshaan and Jahan are obsessed with superheroes: those with superhuman abilities and the strength to vanquish any enemy they happen upon. They tumble around their home in superhero costumes, their joy evident, their disease secondary.

Arshaan and Jahan have the opportunity to become real-life superheroes with their participation in research for a cure for Jansen’s.

“So do I want to change anything? No. I’m still giving love a chance. I love my boys and am thankful for this incredible journey.”

Keep up with the family and the foundation by following their Facebook page


Coast Moms Fighting to Find Cures


Two Coast moms are headed to the nation's capitol to meet with lawmakers about ways to fund research and find cures.

Eleven-year-old Levi and 3-year-old Willow are different in a lot of ways, but share a common similarity - they both have what's considered an ultra rare disease. 

"She has multiple sulfatase deficiency. In our cell is a thing called a lysosome. It's main job is to take out the trash and her trash man doesn't work properly," said Amber Olsen, Willow's mom. 

Over time, Willow won't be able to move on her own and eventually her central nervous system and muscles will break down. Doctors say most children with her disease don't make it past the age of 10.

"We were like, ok we'll just go find out what the treatment is and then he said there is none, so it was really hard to hear that there's nothing that can be done," Amber said.

Levi's mom Dona Krystosek says her son has Jansen's Metaphyseal Chondrodysplasia, a rare, debilitating form of dwarfism. His bones grow deformed, which requires him to undergo multiple surgeries throughout his life.

Even so, the two moms aren't giving up. Both are heading to Washington D.C. to meet with lawmakers and the National Institute of Health to discuss funding and grants to help find research and cures for the two diseases. 

"These are the people up there that have the ability to help us with funding and to speed along processes for drug trials and stuff like that," said Dona. 

Until a cure is found, the families continue to search for answers to give their children a normal healthy life. 

"I want her to have a chance like other children should have a chance," said Amber. 

Rare Disease Day is Tuesday, Feb. 28. Both the cities of Ocean Springs and Biloxi gave a special proclamation for both mothers and their children.

To learn more about Levi's disease and Willow's disease you can find them on Facebook by searching Warriors for Willow and Little Levi

Source: http://www.wlox.com/story/34580471/two-coast-moms-fighting-to-find-cure-for-their-childs-ultra-rare-disease

Rare Disease Day Proclamation In Ocean Springs

Two very special children and their mothers were honored tonight at an Ocean Springs City Council meeting. News 25’s Hank Davis was there to get the story.
A special proclamation by the City of Ocean Springs recognized ‘Rare Disease Day’ and special guest honorees Willow Cannan and ‘Little Levi’ Krystosek were there for the big event.
Levi has a rare, extreme form of dwarfism, but that doesn’t stop him from being larger than life. Willow has a metabolic lysomal storage disease, so rare that there are only 22 known cases in the world. “It makes me feel amazing for kids like me to have a day because what we’re trying to do here is spread awareness about the diseases,” said Levi.
Willow’s mother, Amber Olsen, said, “When you’re diagnosed with something ultra-rare there is no chemotherapy. There is no treatment. Doctors told us there is no treatment. There’s nothing that can be done. Then you go and you start looking and digging and you can find researchers who can work on the disease, but then they don’t have any funding for that.”
That’s why the two mothers are headed to the nation’s capital next week for ‘Rare Disease Week’ to speak with congressmen and senators about setting aside funding for that research. This kind of action has become the norm for these women. Levi’s mother, Dona Krystosek, has even dedicated her career to helping children with rare diseases. “It’s a bigger picture. Not only am I helping him and giving him a better quality of life, I’m helping other children, children that sometime I never get to meet.”
To learn more about these children and their battles visit ‘Little Levi’ and ‘Warriors for Willow’ on Facebook.

Source: http://wxxv25.com/2017/02/21/rare-disease-day-proclamation-ocean-springs-2/

Little Levi with his mom, Dona Kystrosek

Little Levi with his mom, Dona Kystrosek

Family with Three Wheelchair Users Gets First Accessible Van

“Life is entirely what you make it to be,” said Neena Nizar in a 2013 TEDx Talk at Manipal University in Dubai.

She stood on the stage and, although not quite four feet tall, commanded attention. Her voice has undertones that sound like laughter. But Neena has had lots of reasons to cry, instead of laugh, in her lifetime. Still, she says, “I’m a very strong believer that God doesn’t make mistakes.”

Her two young sons are full of energy, and are each others support system.

Neena was born in Dubai and it was clear from a young age she had a disability, though doctors around the world could not pinpoint what, exactly, it was.

“There are 456 known forms of dysplasias and many still unclassified,” Neena explained. “For 32 years, I lived with a misdiagnosis.” She had been through years of tests to be told she had Ollier disease, and she had no reason to doubt her doctors.

When Neena asked her doctors if she could start a family, they told her she wouldn’t get pregnant. She did. They said she’d never be able to carry to term. She did. They said she wouldn’t be able to walk. She walked every day until the day of the birth of her first son. He was beautiful and healthy. Then Neena had another son two years later. But suddenly, she noticed problems in her once-healthy two-year-old.

The Adam boys sit in their hospital beds. They spend a lot of time there, so transportation was becoming a necessity, not a luxury.

Later tests would tell her that she had been misdiagnosed. Her disability was called Jansen’s metaphyseal chondrodysplasia, which is autosomal dominant – meaning it would be passed on to her children. There have only been 30 recorded cases – including Neena and her two sons.

She immediately turned to her computer to start looking for other people with the same disorder. She found a mother with a boy with Jansen’s in Mississippi and contacted her for advice. But she left having given more instruction than she received. That’s when Neena realized she could teach people about her condition and continue to live the life she wanted without letting her disability decide what she was or was not going to do.

Dr. Salusky takes samples of bone and cells for his research on Neena’s two young boys. If previous research applies to humans, this cure could help people with a myriad of bone disorders.

Neena is a college English instructor pursuing a doctorate in educational leadership, a wife, a mother, and a rare disease advocate. With her husband and her two boys, she moved to the United States in January of 2015. Treatments were more readily available here than in Dubai, and the boys had qualified for an experimental treatment being studied at UCLA. The treatment saw success in mice, and if it were to work in Neena’s two small boys, it would mean a cure for her and the other two dozen people around the world living with the disability.

Then in March, with help from Easter Seals, the family was able to purchase their first accessible van. In fact, the BraunAbility van was the first vehicle Neena had ever owned. She visited Heartland Mobility in Omaha.

“We had to get three wheelchairs in there at the same time and also outfit it with hand controls so I could drive.” She credits her dealer with helping her find the perfect fit for her and her family: “He made it happen.”

Their 2015 Dodge Caravan has space for each of them in their chairs (two power chairs and a manual chair), the dealer explained. While there were other mobility van options, BraunAbility offers the most space and comfort.

“We are just so much more independent. We can carry all of our wheelchairs, and that’s just amazing to us,” Neena says. Her sons love going to the park, she says. At eight and six years old, they have lots of energy, and getting to play with other kids their age is great for them.

BraunAbility is so happy to be a part of this next chapter in their lives. Thank you, Neena, for sharing your BraunAbility story. If you would like to keep up with the boys’ progress, check out their Facebook page.

Hope for Elkhorn Boys with Rare Disease

There are only 22-people in the world with it, and three of them live under the same roof in Elkhorn.

When we arrived at their apartment, the two boys were drawing and coloring in the living room. The designs focused on super heroes. It wasn’t long before Arshaan, who is 8, and his younger brother Jahan, 6, ran to their room to change into super hero costumes.

It’s hard to know they are struggling – until you see them walk.

“After sending x-rays across the world, no one could tell me what was wrong me with or my kids,” said the mother of the boys, Neena Nizar, who has the same condition. “I lived with the wrong diagnosis for almost 32 years.”

After years of uncertainty, last March a doctor in Boston finally understood what they have after running tests on their blood.

It’s called Jansen Metaphyseal Chondrodysplasia. It means they’re losing bone faster than it’s growing.

Arshaan told WOWT 6 News, the bone disease limits what he can do in school. "Not getting to do what normal kids do." Reporter: "Like what?" Arshaan: "Like play basketball, or Fire and Ice which I always miss out on in P.E. So that stinks."

Next week, the boys travel to UCLA.

While Jahan took a snack break with an Oreo, big brother Arshaan explained what will happen there.

"We take the Tetracycline –and it stains our bones and then after that we go to UCLA for a bone biopsy, and the doctors take out part of our bone and then they use that for a little experiment to see if the cure actually works on our bones."

Up to now – the treatment has been stop-gap surgeries.

“You can see where the knees are turning outward,” said their mother. “The same things are happening to Jahan's legs. The doctors in Boston are hopeful that a cure for Jansen’s would be a cure for other conditions and possibly a cure for osteoporosis."

"And if it does,” said Arshaan. “Everyone in the world with Jansen's can get cured. If it doesn’t, then – mmm."

Even so, Arshaan and Jahan think perhaps this is their superhero moment.

"We see ourselves now as an instrument to push this forward…and to give hope to others,” said their mother. “If you have a rare disease, it’s not the end of the story."

The Adam Boys leave for California this weekend. You can follow along on their journey on Facebook.

Little Levi's Miracle Flight to Nemours

Ten year old Levi is just one of 22 people in the world with Jansen’s metaphyseal chondrodysplasia, an extremely rare form of dwarfism in which the bones of the arms and legs do not develop normally, affecting growth and mobility. So, imagine his surprise when Levi got to meet two other young boys with the same diagnosis. Levi and brothers Arshaan and Jahan Adam were all able to get to Nemours/Alfred I. duPont Hospital for Children, where they are being cared for by Nemours pediatric orthopedic surgeon Dr. William Mackenzie, thanks to Miracle Flights, a nonprofit that flies families free of charge to medical facilities around the country. Levi made headlines when he became Miracle Flight's 100,000th flight. This video highlights Levi's visit and the impact meeting those boys had for him.


Omaha woman speaks out in Washington on rare disease

WASHINGTON (Gray DC) - An Omaha woman traveled to Washington, D.C. this week to speak out for her and her two boys during Rare Disease Week on Capitol Hill. The three suffer from Jansen’s Metaphyseal Chondrodysplasia, and she says she won’t stop fighting for a cure.

Neena Nizar and her sons are three of 22 people in the world who suffer from the progressive and debilitating skeletal deformity.

"My whole life is on standstill just for my kids to fight this battle,” said Nizar.

She was misdiagnosed for 32 years, undergoing three dozen surgeries. When she had her two sons, she realized she had passed on the disease. So she came to Washington to speak with top health officials who she says know how to find them a cure.

"I feel so empowered and I know that my boys, and myself, don’t have to go through this for nothing,” said Nizar.

Nizar says she thinks the cure for their disease could be the gateway to a cure for more common diseases, like osteoporosis. She thinks legislation is key in this fight, so she had a meeting with Senator Ben Sasse (R-NE) that addressed just that.

"Nothing’s going to be possible without the backing of legislation,” said Nizar. "There needs to be not just attention for the rare diseases that form 7,000 numbers, but for ultra rare diseases that could potentially unlock treatment to more common diseases.”

“Research is critical and so is preventing Washington from putting bureaucratic layers between patients and cures,” said Senator Sasse in a written statement.

Neena’s story struck a chord in Washington, with researchers and legislators alike.

"I think our journey has been a real eye-opener for us and for everybody who’s been following us,” said Nizar.


Neena Nizar: I’m tiny but I make the most of life

Some battles are lost, some are won, but mine is ongoing. In fact, it multiplied threefold after I learned that both my sons Arshaan, five, and three-year-old Jahaan have inherited my condition, which means they may never grow tall, be able to walk without aid or have normal-looking facial features.

The reason is they share my rare bone condition called Jansen’s Metaphyseal Chondrodysplasia, a genetic disorder characterized by short-limbed dwarfism.

At 34, I am probably the oldest surviving person with this condition and, including my two boys, there are now just 22 such cases in the world, according to my doctor.

Although as a child, I’ve not been able to do a lot of things like run and play like my friends, I’ve never felt inhibited by my condition. I’ve never allowed it to affect me in any way. If anything, it has only made me stronger and has encouraged me to make the most of my life. I’m also teaching my kids to do the same and have a never-say-die attitude.

I remember my mother Sunitha Nizar telling me that I looked like a normal healthy 2.2kg baby when I was born in Dubai on January 28, 1978.

However, I developed pneumonia when I was just a few days old and was given strong doses of antibiotics. She says her eyes used to fill with tears whenever the nurses would come by to give me the injections because I used to cry from the pain for hours.

My mother told me that she and my dad used to constantly check to see that I was achieving my regular growth milestones. Apparently, I was always reaching them later than my peers, but every time I achieved them – like speaking my first word, ‘mama’ – the thrill and excitement at home knew no bounds.

It was only at the age of three that I took my first steps – a monumental moment for my family. I was tiny for my age, but my parents weren’t too worried. They just thought I was petite.

However, their happiness was short-lived as my parents discovered that my legs bent at the ankles when I walked and it was hard for me to take more than a few steps. The doctors who checked me because of my bent ankles misdiagnosed my problem and began treating me for rickets, which didn’t help my condition.

In fact by three, I’d started developing unusual facial features as well, such as prominent eyes and cheeks and abnormal skull shape – suggestive of a congenital disorder or birth defect.

My parents guessed something was not right and took me to several doctors, but none could identify exactly what the problem was. The common diagnosis was that my legs and face would require surgery later in life.

Surprisingly, I don’t remember being upset when I saw my misshapen face or short stature, bent knees and arms. I just believed that some people were born like me.

‘My pillar of strength’

It wasn’t long before my walk was a waddling gait and my legs began to bow into a ghastly C shape. The bulging bones on my face were worrying my parents, but I was very sharp mentally. I was chatty, and eager to learn.

My father, A.K. Nizar, an electrical engineer at the Dubai Electricity and Water Authority, was my pillar of strength. His policy was, ‘If anything can be done, I’ll get it done.’

He wasn’t willing to allow anything to come in the way. No tears were shed over my condition, and no sympathetic looks were cast in my direction. I had a regular normal environment at home where there was fun and games and laughter.

My father was determined to give me the best treatment he could afford and to that end, he took me to London, where my maternal uncle was based, for my first set of corrective surgeries. Even the hospitals there couldn’t diagnose the problem, but based on my condition, they suggested surgery to correct
the shape of my bones.

I spent a year there away from my family undergoing physiotherapy after the surgery. I missed my parents but I was quite happy to play in the snow and experience my first white Christmas under my uncle’s care. I still remember making snowmen and playing with the children in our neighborhood.

By the time I was six, I needed a new set of corrective surgeries and this time my father decided to take me to Children’s Hospital Los Angeles where he hoped I would get better help. But I was misdiagnosed for a second time.

The first time the doctors believed I had rickets, and this time they said I had a rare incurable bone disorder named Ollier’s Syndrome, which is a nonhereditary disorder where benign tumors develop close to growth-plate cartilage. Only one in 100,000 have this.

They suggested a different series of corrective surgeries, and so began my life of checking into and out of operation theaters in the US and in India, where we are from. Fortunately, the surgeries did not affect my schooling and I managed to do very well academically. I enjoyed school and didn’t want to miss it.

Financially, these were difficult times, as all my father’s savings went towards my treatment. My relatives chipped in as treatment for my condition was not covered by insurance.

Just like my brothers

Although I looked disproportionately short – just 129cm – with skeletal abnormalities, it didn’t really bother me because even as I was growing up my parents and siblings – elder brother Nabeel and younger brother Neeju, neither of whom have the condition – didn’t treat me as a special needs person.

I remember my mother making me do regular chores – like cleaning and dusting the home, doing the laundry, just like others in the family. I wasn’t given any extra privileges because of my condition, which helped me a lot as I began to learn to take care of myself.

I went to a regular school – St Mary’s High School in Dubai – and received straight As throughout. I was even offered a full scholarship to study journalism in the US, but because of my health, I was not able to take it up.

My school friends didn’t treat me any differently. I suppose it was because academically I was excellent. I was also encouraged by my parents, particularly my mother, to participate in all activities I could at school and I was very good in theatrics and was a regular member of the school dramas.

By 16, my parents along with Nabeel, now 38, and Neeju, now 32, and I left Dubai to settle in India as I needed regular surgeries that required years of constant professional monitoring. In total, I had 32 operations.

Despite the pain of the medical procedures, I wasn’t willing to just stay at home. I was keen to study and after graduating in English, went on to take a master’s degree then an M Phil in English.

I also secured a scholarship to do research in English in Canada. For a brief period, I also worked as an English professor in Kerala. It was during that time that I underwent another operation where rods and pins were inserted into my legs to straighten them. It was a Russian procedure called Illizaro.

After this, I remember going to college and the only way I could move around was either in a wheelchair or using a pair of crutches for short distances. But I stayed positive throughout it all – I was sure I would be able to lead a near normal life someday.

The meaning of happiness

At 25 I was able to walk without aids for short distances as the results from the Illizaro had started to work. I decided to return to Dubai to find out what my calling in life was. It is from here that life began to change. I accepted a teaching job at the Modern English School. It was a challenge, but I enjoyed it.

Of course, it was difficult to get past my disability and many hours were spent telling the grade 8 kids what my world was like. They used to ask me whether I was in pain, whether I could walk without difficulty, what it was like to have the condition... Almost all the children, who were aged 12-13, were taller than me but they were all very caring and helpful and gave me all respect due to a teacher.

My life took a completely different turn when in 2006 I met a man named Adam J Timms, an American from Nebraska, online. After exchanging a few introductory emails, we soon got to know each other better. I told him everything about my condition including the fact that I had bent bones, was short and unable to walk without aids.

We communicated via email for seven months and when he landed in Dubai to meet me, little did I know that I was about to tie the knot with him. It was a momentous occasion. I realized that happiness is to love and be loved.

The same year I married him. My next dream was to have a child. I consulted several doctors and specialists, and from those that confirmed I could conceive, I was told my baby would not inherit my condition because we were under the misconception that I had Ollier’s, which is not genetically transferable. I decided to take the plunge into motherhood. I delivered a beautiful healthy baby, Arshaan.

When he was 15 months I conceived again at 32. I flew to my hometown Kerala to have my baby and it was during that time that Arshaan’s delayed developmental growth caught our attention.

I consulted a paediatric geneticist, Dr Sheela Nampoothiri, at the Amrita Institute of Medical Sciences and Research Centre, Kochi. She confirmed that we had the very rare condition known as Jansen’s Metaphyseal Chondrodysplasia.

I had been living with an incorrect diagnosis for 32 years, which was a shock. It was especially upsetting as I didn’t know my condition was genetic and could be passed on to my children.

We did tests on our second son and found that he too has the condition. I was shocked to learn that and it took me well over a year after Jahaan’s birth in 2010 to rebound, but today I am stronger. I have once again immersed myself in teaching. I also earned a driving license and can drive around in a modified car.

I have also agreed to become the subject for Dr Nampoothiri’s research. I have to regularly send the calcium levels in my blood and progression reports required for her study. I am also documenting my kids’ progress – everything that might be useful for the study.

Adam and I have decided to start the kids on an intensive physiotherapy now. They have to undergo 40 minutes of stretching, bending and specific exercises to tone their muscles every day. It is painful, but it helps build up their muscle tone, which hopefully will prevent their bones from bending too much. Jahaan seems to be responding well, but I’m not sure if it’s too late for Arshaan.

The boys’ therapist, Rajiv Shankar, and Adam and I believe that since there is no known cure, the best we can do is to contain it during their growth phase. I do not really know if we’re doing the right thing. The pain from the therapies is more than anyone can bear. I’m sad my children have the condition, but I try to teach with there’s a reason to smile every day. We might all be small but there’s a lot of happiness in our life and I’m teaching to be strong and believe that anything is possible.

Neena Nizar, 34, lives in Dubai.