Rare Leader: Neena Nizar, Founder and Executive Director of The Jansen’s Foundation

The Basics
Neena Nizar

Title: Founder and Executive Director

Organization:  The Jansen’s Foundation

Disease focus:  Jansen’s metaphyseal chondrodysplasia is a ultra-rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

Headquarters:  Elkhorn, Nebraska

How did you become involved in rare disease: I have the rare disease myself. I was 32 when I was diagnosed. By then, I had already passed it down to my two boys. There are only eight known cases of Jansen’s disease worldwide. That’s when I realized how rare this condition was. I also quickly realized that nothing had changed much since I was a little child; invasive surgical procedures throughout childhood was still the only option. I was pretty upset that despite all the advances in bone and mineralization, there wasn’t much being done in rare skeletal diseases. I wanted to change that. I wanted a different treatment option for the children and a chance at a pain-free childhood.

Previous career:  I was a teacher at an international baccalaureate school in Dubai.

Education: Bachelor’s degree in English and a double Master’s degree in English and Philosophy from All Saint’s College, Kerala, India; Doctorate in Interdisciplinary Leadership from Creighton University in Omaha, Nebraska.

The Organization
Organization’s mandate: Our mandate is to create awareness and fund research. Because of the rarity of Jansen’s disease, we focused our first year on bringing awareness to the condition. A second part of our mandate has been to get funding for research. We succeeded in getting an NIH grant last year. Our research team at Harvard Medical School & Boston Mass. General Hospital have a therapeutic treatment they have been working on and we are hoping to get that to market as soon as possible. The treatment aims to stop the over-active PTH receptor from turning over bone so quickly.

Organization’s strategy: We’ve been very careful in our strategy. When we started in 2017, we had these two big goals. We knew creating awareness of the disease would help us find others with Jansen’s and true enough we ended 2017, having found 3 new cases to take our community to eight in total. Our strategy has been to make the disease visible and make our patients’ voices heard. We did a Discovery channel documentary and got purposeful media coverage documenting the disease. We also aimed at creating an informative website that helped with disease identification and educational programs. I’m handicapped in the sense I can’t move around much because Jansen’s affects mobility; it’s not always easy attending every event in the rare disease space, so we pick and choose events wisely and strategize from living room board-meetings. Another important strategy is finding the right collaborations. As a NORD member and a Global Genes Foundation Alliance member, I have been successful in making successful inroads into the arena of drug development. We have an amazing core team of dedicated professionals and our goals are very clear. We knew right off the bat that crowd-funding was time-consuming with such a small disease-population and no drug company was going to be interested in such a rare disease, so we had to work wisely in getting our story out there and finding angel investors through our zeal for hope and faith.

Funding strategy: The funding strategy has been grants and we’ve been approached by a couple of angel investors interested in investing in the drug because of its crossover applications. If we develop this drug, then we may be able to help more common diseases like osteoporosis and osteoarthritis. Even though we are a small population, it’s been incredible the number of people who have jumped on board and said, “Yes, we want to help you” just by listening to our story.

What’s changing at your organization in the next year: We are getting prepared for our first clinical trial. We’ve been working on a pre-IND meeting with the FDA for this year. We’ve been contacted by a production company that wants to document our journey towards the l trial. We also have our very first skeletal dysplasia conference in the Midwest region and we are excited to get some very big names from all over the country coming to Nebraska on September 7, 2018.

Management Style
Management philosophy: Strengthening credibility across the board is important for all of us at the Jansen’s Foundation. We focus on developing values-based goals; we are constantly reflecting on our mission, not only thoughtfully and critically, but also with a sense of passion and ethics. We are looking not just for cures but also how we as an organization can serve the common good. We’ve been very transparent about what we want and how we intend to achieve our goals of advocacy, awareness, and education.  The board members understood the importance of making this a participatory and collaborative venture. We knew that serious changes were likely, and that change always carries risk. I think we all recognized that the best way to manage that risk was to make sure we were all on the same page.

Guiding principles for running an effective organization: The Jansen’s Foundation members have the ability to create and sustain the vision and mission; inspire and influence others to join us; prioritize; be decisive but inclusive; be open to innovation and manage risk, and hold ourselves accountable to the mission; all in an effort to achieve the organizational mission. The Jesuit principle of magis pervades the core of our foundation. The magisdrives a person toward “something more, something greater”. Most people wonder about their capacity to act heroically should a momentous opportunity suddenly present itself. Our guiding principles force us to consider instead our capacity for heroism on a daily basis. Heroism is not just a response to a crisis, but a consciously chosen approach to life. It is judged not by the scale of the opportunity, but by the quality of the response to the opportunity at hand. Every day we are presented a choice, and we choose to devote each day to a work so vital it feels like the well-being of the whole world depends on it.

Best way to keep your organization relevant: We’re always looking to be compliant with federal policy and state policy. We are very much up to date with technology and advances in science. We also look at different ways of using science, research, and data to connect with patients. As a nonprofit organization, it is important to be engaged and relevant to the community we serve.  We believe in passionate discussion. By putting ourselves out there and having discussions with a wide range of stakeholders, we are able to find opportunities that align with our mission. Ultimately, we aim to create deeper and more meaningful relationships with all stakeholders. The Jansen’s Foundation’s responsibility is to not just advocate for the mission of but to be a voice for the broader vulnerable populations we serve. Leadership is transactional and transformative in creating cohesion throughout the community. We keep relevant by being consistent and involved, promoting opportunities for meaningful change.

Why people like working for you: I’m passionate about what I do. I believe change is possible. People see we’ve been successful in a short amount of time. They believe in the mission. I think that’s the biggest buy-in factor.

Mentor: My mentor has always been my father. He’s always been a fixer. He fixes everything that is broken. He doesn’t accept “this is not going to work.” I learned very early on life the lesson of perseverance. In the rare disease space, I have several mentors. I am new in the field and I love hearing everyone’s stories. I love connecting with advocates because they have already done things I’m just setting out to do. It’s nice to see people who have gone before me and learn from their success and mistakes.

On the Job
What inspires you: Hope. The idea that we can actually change something. When we start seeing these small successes, it inspires me to work harder. Every pursuit offers its own version of the same heroic choice. How one chooses profoundly affects personal satisfaction and performance quality; after all, how can you not be motivated when the “wellbeing of the whole world” depends on what you do, right?

What makes you hopeful: Science and faith; a juxtaposition of sorts, but it’s truly a remarkable period in time for science and medicine. When I was growing up there was nothing. Doctors told my parents to take me home and pray. I remember being tied to an ironing board because my bones were bending, and my parents didn’t know what else to do to keep them straight. Today, we have so many other options and a therapeutic treatment in the works.  How incredible!

Best organization decision: Backing up our research team and working with them. That’s been monumental. Such collaborations, if managed effectively, can contribute to more comprehensive research and more effective policy advocacy.

Hardest lesson learned: I come from a different country and I have had many hard lessons along the way. The toughest one has to be the cost of cures and life-saving treatments. That was a hard lesson I had to quickly learn. Other smaller, but still significant lessons, include learning to navigate the healthcare and insurance system. I had to learn how drugs are developed and to understand all the nitty-gritty of the role of pharmaceutical giants and changing place of patient advocates.

Toughest organization decision: I don’t think I’ve had any tough decisions so far. I am very clear in my mind as to what our mission is and so decisions are not hard to make with the support of our very committed board and scientific advisory team.

Biggest missed opportunity: We haven’t had a missed opportunity yet. There are some events I don’t get to attend that might have been great opportunities, but I don’t see those as missed opportunities, but rather as moments that weren’t mean to be at that specific point in time.

Like best about the job: That it’s not a job. We’re fighting for lives here. We’re fighting for cures. I wish I didn’t have this job. I wish cures were something everybody had by right. I don’t see this as my job. This is what needs to be done. It’s part of my every day.

Like least about the job: Travelling with the wheelchair and the physical toll it takes on me.

Pet peeve: Airline people breaking my wheelchair and being callous about it!

First choice for a new career: I see the need for a pharmaceutical company in my future…

Personal Taste
Most influential bookTo Kill a Mockingbird by Harper Lee. I learned that book as a child and I got to teach that book to my first class. It has so many powerful lessons and so many sweet memories tied to it. I still find myself quoting from it regularly.

Favorite movieBlack Panther. The shining splendor of the Wakandan warriors poised and ready to fight is a collective soul as timeless and indestructible as vibranium itself.

Favorite music: ‘80s music.

Favorite food: Indian.

Guilty pleasure: Dark chocolate.

Favorite way to spend free time: Researching.

My Mother Helped Me Become a Better Mom to My Kids With Disabilities

I have always perceived my mom to be “weak.”

When she had me at 22, she cried. She was broken — wrought with unimaginable grief, sadness, and disbelief.

She was young, spoke very little English, and was touched by a sweet naivety that didn’t quite prepare her for the world of children with disabilities.

In India, there is a stigma surrounding disability that pervades the fabric of society. Lack of understanding, awareness, and availability of resources often shapes attitudes towards disability. People with disabilities are often viewed as burdens or punishments from God for some past sin.

After months in the NICU with me, a bout of pneumonia, misdiagnoses of polio and rickets, my mother finally took me home.

Raising a child with a rare disease in 1980’s Dubai was like driving on a highway in pitch darkness; you never knew which turn to make or where the road led. There was no Google. No internet. No doctors who could advise or prescribe a treatment. Nothing. You were completely on your own.

In a small apartment home, surrounded by miles of desert sand, my mother struggled to feed, bathe, and care for me. At every doctor’s visit, she cried. Comments like “failure to thrive,” constant X-rays, blood tests, and other medical jargon spun around her head like popping corn in a gigantic steel machine.

As my skeletal disease progressed, she worried about my waddling gait and how I would ever manage school. She worried if kids would be nice to the tiny little girl in crooked pigtails. And as the medical interventions came thick and fast, she settled into her quiet role of grief.

All of my earliest memories of my mom are of her sadness.

When my father took me for my first set of surgeries to UK, she packed all my favorite dresses and cried at the airport.

When I returned from America with casts till my hips, she watched nervously from the corner of my room.

At night, in hushed tones, she would talk about the future, wonder about God and his ways, and sleep fitfully over the incredible challenges our family faced.

Funny enough, for all my mother’s pain, I was the spunkiest kid around! Not a day went by that she didn’t see me charging down the playground — metal calipers and all, arms flailing and buck-toothed. In the neighborhood, I was “Ms. Bossy Pants,” always telling people what to do.

So you can imagine when the teen years hit, our battles were epic. While my physical body was still that of a 6-year old, my mind was not. This juxtaposition of this new reality was all too much for my mother. Seeing her little girl struggle to find independence was hard on a simple heart that wanted nothing but to protect.

Later, when I became confined to a wheelchair, the questions of marriage came up and inquisitive relatives asked: “Who will ever marry your daughter?”

I left home to become a teacher.

Years later, my mom sat with me in a doctor’s room, carrying my second son, to receive the news that both my boys had Jansen’s metaphyseal chondrodysplasia, a rare and progressive skeletal disease. After 32 years, I also had a diagnosis.

This time my mother understood every last word. She hugged her grandbabies tightly, held my hand, and for the first time, I felt my soul weep with hers.

Growing up, I always wanted to be like my father. He was strong, almost invincible. He pushed me to try everything and encouraged me when I failed. He was the last person I saw when I went into the operation room, and the first person I saw when I came out.

Today as a mother, I feel his strength and his tenacious desire to make things right. But as mother I have also learned to cry, and this important lesson was taught to me by the woman I failed to understand all these years – my mother.



When you realize your babies may not live the life you planned, the worst kind of thing happens when your soul weeps, and no matter what you do there is no way to comfort it. In my mom’s words: “A part of you withers and becomes a scar on the part of your soul that survived. After a while, there are more scars than life.”

And that’s OK. My mom taught me not to be ashamed to weep; it is alright to grieve. The Indian scripture says: “Tears are only water, and flowers, trees, and fruit cannot grow without water.” And sometimes life is just hard, and you have to cry before you can move forward.

My mom is my best friend. When my boys hurt, she is in the room with them, and that kind of strength from that kind of woman can move mountains. There’s a knot in the pit of your stomach that cries so hard it hurts your throat. But now I recognize and understand her tears are out of frustration or knowing that nothing can really change the situation. And that one tear — that tiny, salty, droplet of moisture is a means of escape. Although it’s just a small tear, it is the heaviest thing in the world that lightens the load and leads the path.

My mother is my best friend, and now I realize she is the strongest woman I know.

My Dwarfism Is One In A Million | BORN DIFFERENT

AN 11-year-old boy with a rare form of dwarfism is one-in-a-million. Levi Krystosek, 11, has a rare form of dwarfism called Jansen Metaphyseal Chondrodysplasia, which affects the growth of bones and causes considerable pain, meaning he is only 38 inches tall. There are approximately only 30 known cases of JMC in the world, and five genetically confirmed cases in the US.

Harvard Medical School

January 12th 2018 was a special day as Neena Nizar, the founder of The Jansen's Foundation got the opportunity to address the first year students of the musculoskeletal pathophysiology course at Harvard Medical School, Boston. 

It was an exciting moment for students to learn first-hand about rare diseases, their importance and impact.  Many of the students, who were joint MD-PhD candidates, were provided with great motivation, not only clinically, but also in their research.  


Bottom R-L: Dr. Mary L. Bouxsein, Dr. Marc Wein, & Neena Nizar, along with students of the first year musculoskeletal course, Harvard Medical School.

Bottom R-L: Dr. Mary L. Bouxsein, Dr. Marc Wein, & Neena Nizar, along with students of the first year musculoskeletal course, Harvard Medical School.

The American Society of Bone and Mineral Research Conference, Colarado

The American Society of Bone and Mineral Research annual conference was held at the Colorado Convention Center, Denver, Colorado, on September 8th to 11th.

The ASBMR Annual Meeting is the world’s largest and most diverse meeting in the bone, mineral and musculoskeletal research field, attracting more than 4,000 attendees from more than 70 countries, including clinicians and researchers, representing all career levels and specializing in a variety of disciplines.

The Jansen’s Foundation’s research team from Boston Massachusetts Hospital and Harvard medical school presented two posters and three oral presentations on Jansen’s Disease, and The Jansen’s Foundation was honored to be a guest at this prestigious event.

The presentations and posters were very well received! The science of the inverse-agonist used to stop or inhibit the overactive PTH receptor has been tested in mice with promising results. Not only has the Jansen’s mice bone shown increase in quality, but surprisingly they have also increased in length.

The promising results lead us to believe that we are on the threshold of the first clinical trial to test these new inverse agonists on humans.

TJF’s Dream Team!  Back Row, Dr. Harald Jueppner, MGH; Dr. Sihoon Lee, Professor from Korea studying PTH-related diseases; Dr. Michael Mannstadt, Chief of Endocrine Unit MGH; Hiroshi Saito; Dr. Thomas Gardella, MGH.  Front: Dr. Hiroshi Noda, MGH Endocrine Unit, performed and presented studies in Jansen Mice reported at 2017.

TJF’s Dream Team!

Back Row, Dr. Harald Jueppner, MGH; Dr. Sihoon Lee, Professor from Korea studying PTH-related diseases; Dr. Michael Mannstadt, Chief of Endocrine Unit MGH; Hiroshi Saito; Dr. Thomas Gardella, MGH.

Front: Dr. Hiroshi Noda, MGH Endocrine Unit, performed and presented studies in Jansen Mice reported at 2017.

Another magical picture from the American Society for Bone and Mineral Research Conference.

L-R, Dr. Larry Suva, co-discover of PTHrP, currently a Professor at the Univ. of Texas; Dr. Harald Juepnner at MGH; Prof. Jack Martin, co-discover of PTHrP, currently at Univ. Melbourne; Dr. John T. Potts, first to report sequence structure and chemical synthesis of PTH; Dr. Hiroshi Saito, clinical fellow studying natural history of Jansen’s with Dr. Jueppner at MGH.

L-R, Dr. Larry Suva, co-discover of PTHrP, currently a Professor at the Univ. of Texas; Dr. Harald Juepnner at MGH; Prof. Jack Martin, co-discover of PTHrP, currently at Univ. Melbourne; Dr. John T. Potts, first to report sequence structure and chemical synthesis of PTH; Dr. Hiroshi Saito, clinical fellow studying natural history of Jansen’s with Dr. Jueppner at MGH.

The conference was a wonderful learning experience and an amazing opportunity to meet some of the great minds behind the science of medical cures and revolutionary therapies.

Dr. Ernestina Schipani, the lead scientist along with Dr. Harald Jueppner at the MGH on the first discovery of a Jansen's Mutation (H223R) reported in Science! Their efforts were published in a research paper in 1995! She is currently a Professor at the University of Michigan. Pictured here with Neena Nizar.

Dr. Ernestina Schipani, the lead scientist along with Dr. Harald Jueppner at the MGH on the first discovery of a Jansen's Mutation (H223R) reported in Science! Their efforts were published in a research paper in 1995! She is currently a Professor at the University of Michigan. Pictured here with Neena Nizar.

Today, there is no question that the patient voice is growing in prominence with the advancement of cures. With the emphasis we see today on accumulating real-world evidence and prioritizing patient-focused drug development, the patient voice and perspective has become invaluable.

It was an honor and a powerful moment for the Jansen's Foundation to be invited to such an amazing evening and share in the gathering of incredible minds.

It is remarkable the advancements in science, and the passion for treatments and cures. The road ahead is certainly full of hope!

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.