2019 Global Genes Rare Patient Advocacy Summit Highlights Part 2

Check out Part One here!

Sean Baumstark and Kyle Bryant, hosts of the 2 Disabled Dudes Podcast, led a panel discussion with Neena Nizar, Onno Faber, and Katie Stevens.

Kyle recalled being diagnosed with Friedreich’s Ataxia and being told it would only be a matter of time before he would be in a wheelchair, that it would only be a matter of time before he would lose the ability to take care of himself, and his heart would fail. Sean recalls his diagnosis with FA being accompanied by instructions to stop running, to buy a single story house, and install handrails.

“It was all advice about what I wouldn’t be able to do. We refuse to let our circumstances dictate what we can do or how we can do it.” – Sean

“We interview others with similar mentalities. We encourage others to do whatever they can to live life outside of their circumstances. We believe there is hope for the future.” – Kyle

Onno Faber was a perfectly healthy tech entrepreneur when he noticed sounds becoming distorted, and his hearing starting to deteriorate. Doctors initially couldn’t figure out why this was happening, until a scan revealed a tumor on a hearing nerve. Onno was diagnosed with NF2, a condition that causes tumors to form along his central nervous system. Onno’s career path shifted as he harnessed his problem solving skills to organize a hackathon centered on the genetic data from his tumor. Onno would have preferred to have been able to implement data from others as well, but found that he was unable to access any besides his own. With this issue in mind, he created RDMD– which encourages the sharing of data to maximize research.

Neena Nizar wasn’t diagnosed with a condition she has had since birth until she was 32 and had had her second child. When she finally received the correct diagnosis of Jansen’s disease, there were only 30 known cases that had been written about. She and her family moved from India to the US in 2015 to learn more about drug development.  Neena later founded the Jansen’s Foundation.

Katie Stevens is the parent of a son who was diagnosed with aplastic anemia after he suddenly turned blue around his mouth. He was rushed to the hospital but wasn’t responding to treatment. Once it was determined that his siblings were not matches for a BMT, he underwent stem cell transplant. Katie became involved with the organization, Team Telomere.

Neena expressed how she can relate directly to her son’s experiences.

“I look at boys and I know exactly what they’re going through because I went through it. My boys have had surgery every year since 2015. They have had to relearn how to walk many times. It takes away some of their quality of life. My son wants to play basketball but he can’t.”-Neena

Neena also expressed that she doesn’t feel as those in the rare disease community should compare their experiences against one another in an attempt to see who has things worse.

“There is so much nuance, it just makes things more challenging.”-Neena

Onno explained that not only are there nuances in how conditions impact others physically, but the way our mental states are and can be effected vary by individual as well. He echoed Neena’s sentiments’ comparing shouldn’t be done, because frankly, it’s just not relevant.

Onno also discussed the silver linings he has found through living with NF2.

“I feel honored and blessed to be able to work on these problems now because it makes a difference in people’s lives and without this condition I wouldn’t have had that chance. There is the unknown of when will I lose hearing, what may come up during the next MRI scan. I want to live to the fullest, today. In light of potentially losing my hearing, I started singing, because I always wanted to. I had to get over my shame and do it right now. I appreciate my hearing more and I wish I had appreciated in the same way before. I’m just doing the things I want to do right now. And we’ll see how tomorrow goes. “-Onno

Neena discussed how her parents influenced her. Her father insisted that Neena would go to a regular school in India, even though the school wasn’t open to disabled students.

“My father carried me up the stairs everyday so that I could get an education.”-Neena

No one else in Neena’s family had her condition, and neither her siblings nor her parents treated her differently because of it.

“I’m very thankful for how they raised me because I’m standing tall today because of them.”-Neena

When Neena’s children were born, her parents were devastated their grandchildren had the same condition but told her, “ You turned out fine, they’ll be fine too.”

Katie talked about how her son’s diagnosis impacted his life.

“He went from a healthy, robust kid, to someone who was suddenly isolated from his friends. He had to wear a mask because his immune system was compromised. He didn’t have red blood cells, white blood cells, or platelets- he could hemorrhage from a bad sneeze. She was afraid constantly, because his life was in the air. Katie addressed how their family adjusted as things didn’t go the way they had planned. “He still has his life, it’s different, it’s not what we planned for him, but we started to live in the moment. The whole picture can be too much sometimes, but there is peace in living in the moment. I have to make today be as good as it can be, for as many people as I can.”

Onno Faber has been drawn to problem solving his entire life. His background was in architecture and technology, not healthcare, but he was used to solving complex problems without much context. Onno discussed his transition into the advancement of health care after his diagnosis. He feels lucky that he already had friends in that space.

“I could ask questions, and I could ask stupid questions. It is important to just share ideas. My surgeon gave me his cell phone number and I called him when I had a dream about a surgical tool that could be used to extract my tumors. He told me someone had already come up with a tool like that in the past- but that gave me the confidence to share ideas. As a patient you care about a problem very intimately. You care more than the researchers- asking them the right questions can make them think. You can use curiosity to approach problems.” -Onno

Onno was still running a tech start up when he began researching his disease. Ashton Kutcher was an investor and Onno was showing him a new project when Ashton asked him about his health. Onno told him how he had organized a hackathon to learn more about his tumors and Ashton commented that Onno had sounded more excited about his projects in health than tech, asking, despite his interest in the tech company,”why don’t you do that?”

 “Even with all the unknowns, I felt more inclined. I didn’t know what I was doing -I was learning as I was doing.”-Onno

The panel wrapped up with commentary regarding the importance of rare disease events, and connections.

“We believe that our community is the biggest part of rare disease.”- Kyle

“My online community is my world. You can still connect and that’s something that has changed so much of our world.”- Neena

“I can gain such an education. I look forward to meeting the whole community. We’re rare, but not unique- we share stories and comradery. You can talk and laugh and no one judges you too harshly. “ – Katie


The second full day of the summit featured another wonderful speaker- Dr. David Fajgenbaum. His life changed paths from a focused college football track to medicine after his mother was diagnosed with brain cancer. He decided he would become a clinical oncologist and founded a support network for grieving students. His life changed again in his third year of medical school when he went from perfectly healthy to death’s door. He was diagnosed with a condition he had never heard of, Castleman disease.

With chemotherapy, Dr. David Fajgenbaum was able to leave the hospital after 5 months. After a year, he returned to medical school. He wrote a case report about himself, and then got involved with the Penn Medicine Orphan Disease Center. Castleman disease is as rare as ALS, it has 3 subtypes, and can impact people at any age. Dr. David Fajgenbaum was put on the only experimental drug studied for Castleman, but relapsed, and nearly died, 4 times. He was devastated to learn that nothing else was in development. The only treatment allocated for his condition was not working for him, and there just weren’t other advancements being made.

 “I knew it was unlikely I could find a treatment for myself, but if i didn’t try at all it, it would be impossible. If I turned hope into action I had a chance.” – Dr. David Fajgenbaum.

Dr. David Fajgenbaum decided to create a community- to bring researchers and patients together to determine diagnostic criteria for Castleman, the most important research questions, and who were the best people to conduct the studies. The Collaborative Castleman Disease Network has a natural history registry and collects the data of the outcomes of drugs used off label for Castleman disease. They have a platform that allows new researchers to see what the disease landscape looks like-has put 1 million into research which has resulted in 7 million additional funds based on their studies

Dr. David Fajgenbaum reallocated a drug as an experimental treatment that has kept him in remission. He was able to get married and now has a beautiful baby girl with his wife. He doesn’t feel though, as if his work is anywhere near done. A clinical trial for the drug he is on has just launched at U Penn.

“We’re going to continue to push forward as fast as we can” – Dr. Fajgenbaum

He continues to accelerate research in Castleman to better understand the condtion and help as many other patients as he can. Dr. David Fajgenbaum encourages the rare community to work together, not reinvent the wheel, and explore the possibilities of drug repurposing.

Check out his book for the full story of his journey, Chasing my Cure.

The event closed with a discussion regarding what the future can hold for the rare community and how to best foster advancements. The promise that genome sequencing holds was reiterated, as was the potential efficacy of repurposed drugs. The way that technology can help communities connect and collaborate, and can ease patient burden and simplify data collection and even the execution of clinical trials was also discussed. There is a learning curve regarding what new technologies can yield, but the rare community has possibilities in front of it that weren’t available in the past, that can make a world of difference.

The next Global Genes Rare Patient Advocacy Summit will begin September 21st, 2020, in San Diego, CA.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email