Jansen’s Community Receives PCORI Engagement Award to Advance Patient-Centered Research

We are proud to announce that the Jansen’s Foundation has been awarded a prestigious Engagement Award from the Patient-Centered Outcomes Research Institute (PCORI)—the leading funder of patient-centered comparative clinical effectiveness research (CER) in the United States.

This two-year project, running from June 1, 2025 through May 31, 2027, aims to empower the Jansen’s Disease community to take an active role in shaping research that reflects the real needs and experiences of those living with this ultra-rare condition.

The award, fully executed on May 15, 2025, was granted through the Eugene Washington PCORI Engagement Award Program, which supports efforts to meaningfully engage patients, caregivers, clinicians, and others as full partners in research that matters to them.

About the Project

Goal:
To build capacity within the Jansen’s community to participate in patient-centered CER and to ensure research priorities are aligned with the lived experiences of patients and caregivers.

Key Objectives:

• Enhance Community Knowledge and Skills in patient-centered CER

• Establish Collaborative Partnerships for setting research priorities

• Create a Patient-Centered CER Roadmap specific to Jansen’s Disease

Why This Project Matters

People living with Jansen’s Disease often face complex, poorly understood health challenges. Until now, research priorities have largely been driven by researchers and funders—with limited input from those most affected.

This award allows Jansen’s to:

• Ensure research outcomes are meaningful to patients and caregivers

• Align patient-centered outcomes with the NIH’s ongoing clinical trial for Jansen’s

• Equip the community with the tools and knowledge to actively shape the research agenda

• Foster stronger collaborations between researchers, clinicians, and patient advocates

• Create a sustainable foundation for future research that is relevant, effective, and impactful

About PCORI

The Patient-Centered Outcomes Research Institute (PCORI) is an independent, nonprofit organization authorized by Congress to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information they need to make better-informed healthcare decisions. PCORI focuses on comparative clinical effectiveness research, which evaluates the effectiveness of different interventions to determine what works best, for whom, and under what circumstances.

Learn more about PCORI at pcori.org/about

Stay Connected

Follow The Jansen’s Foundation as we work to uplift the voices of our community, foster patient-centered research, and drive progress toward better outcomes for everyone affected by Jansen’s Disease.

For questions or media inquiries, please contact:
Dr. Neena Nizar

neenan@thejansensfoundation.org

9-year-old boy battling rare bone disease gets gift of a lifetime

BOCA RATON, Fla. (CBS12) — A local boy battling a rare bone disease is spending the holiday season without his parents after their tragic deaths. ~

Little Smiles, a local nonprofit organization, gave 9-year-old Cade Hughes a reason to smile two days before Christmas. ~

Two Disabled Dudes Podcast: Live from Global Genes

Dr. Neena Nizar was honored to share the stage with the hosts of Two Disabled Dudes, Sean and Kyle, for a LIVE forum at the 2019 Global Genes RARE Patient Advocacy Summit.

“We laughed and cried and had an incredible time connecting with the Rare Disease Community about the patient perspective. Listen to this episode for genuine insight and hearty hilarity”:

Neena was joined on stage by stellar patient advocates:

Onno Faber, founder of RDMD
Twitter: twitter.com/onnofaber
Instagram: instagram.com/onnofaber

&

Katie Stevens, Executive Director of Team Telomere
Twitter: twitter.com/sixnwstevies
Instagram: instagram.com/sixstevies~

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.

https://themighty.com/2017/04/miracle-flights-help-us-roll-with-my-sons-rare-disease/

Levi on his medical journey thanks to Miracle Flights