Confessions of People Facing Rare Disease: This Is Life

Confessions of People Facing Rare Disease: This Is Life

People often think having a rare disease or caring for someone who is rare means a life filled with sadness and difficulty. They often wonder “how we do it.” They sometimes feel pity for us. And these questions and emotions speak to how our society can view sickness and disability – a problem or a burden to be “fixed.”

Of course, we all would love cures and treatments for everyone facing rare disease. But there are so many of us who wouldn’t change who we are or who our kids are for the world. While we hope for a brighter future with better health, we also appreciate what we have now.

What many don’t see or don’t realize is the amount of joy, happiness and love we experience as well.

The Mighty explored the highs of living the superhero life with a rare disease and captured what warriors around the world would like you to know

Intellus Worldwide Summit - Philadelphia

Intellus Worldwide Summit - Philadelphia

Drug development is spurred when unmet need and science come together. Strategic planning, focus and drive can spur the birth of new treatments and change. Dr. Nizar was part of a panel discussion at the Intellus Summit in Philadelphia to share insight and experiences on how pharmaceutical and biotech companies can utilize patient input and collaborate more effectively for drug discovery and development.

My Dwarfism Is One In A Million | BORN DIFFERENT

My Dwarfism Is One In A Million | BORN DIFFERENT

11-year-old boy Levi Krystosek is one-in-a-million. Levi has Jansens 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 six genetically confirmed cases in the US. Watch our Levi light up the word with his never-say-never spirit!

Jansen's On TLC/Discovery channel

Jansen's On TLC/Discovery channel

Sometimes we have to give up control and show our vulnerabilities in hopes that a greater good will come of it. Earlier this year, the Adam family gave videographers access to their day-to-day lives for a Discovery/TLC channel documentary. This video is a small segment of the episode that is set to air in 48 countries across the world. Our wish is that the entire documentary captures the immense hope we have for a cure and the love these boys share and bring to everyone whose lives they touch. 

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