Justin Hopkin wears a lot of hats and makes them all fit to help serve others

Justin Hopkin wears a lot of different hats. Doctor, father, husband, and rare disease advocate just to name a few.

But, to Justin, no matter what hat he’s wearing, they all kind of look the same. That’s because Justin is committed to helping and serving others first. At the top of that list is his son.

Justin’s priorities changed significantly when his 10-year-old son, Garrett, was diagnosed with Acid Sphingomyelinase Deficiency (ASMD) also known as Niemann-Pick Disease Types A (NPD A) and Type B (NPD B).

This serious, rare and potentially life-threatening genetic disorder causes accumulation of the unmetabolized lipid sphingomyelin in cells, resulting in damage to major organ systems.

The native of Wyoming had returned home after medical school in Washington and residency in Colorado to practice inpatient and outpatient internal medicine in a rural medically underserved community.

Suddenly his profession and job became secondary. Garrett was his priority. In order to be closer to the best doctors to administer the clinical trial for his son, the Hopkin family moved from Wyoming to Rochester, New York.

Garrett has been fortunate during the pandemic, according to Justin. The clinical trial he has been going through the last four years based in New York City was only partially impacted. The in-person portion of the trial, receiving an infusion in New York City, went away when the pandemic started spreading in March. But over a year ago, 10-year-old Garrett started a home infusion portion of his trial. And the tricky home infusion part of the trial worked out “pretty well”, Justin said, but that’s not the case for all Niemann-Pick Disease patients.

Finding the right home nurse to not only administer the infusion and monitor all the levels had been a struggle for the Hopkin family. Fortunately at the beginning of the pandemic, a nurse from Buffalo named Stephanie was able to check all the boxes.

“We are so fortunate to have found her. I can’t begin to tell you how grateful we are for what she’s done for Garrett and our family,” Justin said. “She drove through bad weather and has put a lot into caring for Garrett. It’s been such a blessing with everything going on.”

Knowing his son was getting the medical care he needed allowed Justin to continue to wear those multiple hats during the pandemic.

“When it comes to being rare there’s never a cookbook. They are all trailblazers. It’s an amazing group of people that live and work in this space.”

Justin Hopkin

He is currently serving in a leadership role with the National Niemann-Pick Disease Foundation as the Board Chairman.

And most recently, Justin has been dealing with the COVID-19 pandemic as Chief of the Hospital Medicine Division at Strong Memorial Hospital in Rochester.

His unique perspective in the last four months spreads across a wide range of issues; his son, his work and the rare disease patients he serves in the Niemann-Pick Disease community.

“There are buckets of things we are all dealing with these days. Access to basic medical care has been impaired by all this. Some of it is just general care. For a number of patients in our community that were participating in a clinical trial, those trials are not continuing.

“And the FDA has slowed down the wheels on clinical trials overall as well. We don’t have an approved therapy for Niemann-Pick Disease for either kind. Is this going to be a 3-4 month delay? Are we going to pick up the pieces and resume at the end of this pandemic? That’s why I say there are buckets of things we are all dealing with these days.”

Mentally, he said, you don’t need to have a rare disease to be impacted by what everyone is going through.  The support he’s seen from the Rare Disease Community has inspired him as the Board Chairman of a national rare disease foundation.

“Every athlete talks about facing adversity and how you respond to that adversity is critical,” said Justin, whose son and family was hosted by Uplifting Athletes and the Buffalo Bills for an Uplifting Experience late last season that showed him intimately the power of sport. “What I’m seeing from the Rare Disease Community during this pandemic is responding to another level of adversity. It’s been tough, but they are responding.

“I see the rare community still talking to industry and still constantly pushing. There was still measurable progress being made. It was slowed for sure. The things we could move on, we did.

Because those with a rare disease are already one of our most vulnerable populations, a worldwide pandemic has an even more significant impact on the community. Solutions and answers don’t always come easy, but the quest to continue to adapt and overcome still lives.

“Our patient conference is our biggest event of the year for our community because it’s the one week we come together and don’t feel rare. We can’t do that this year in person and that’s going to be tough. But we are adapting to make it work,” Justin said. “When it comes to being rare there’s never a cookbook. They are all trailblazers. It’s an amazing group of people that live and work in this space. No matter what, they continue to push the envelope to find solutions.”

Being a rare disease advocate becomes more personal for Kathi Luis

As the Special Projects Director at the Amyloidosis Foundation Kathi Luis is invested in the rare disease patients, families and caregivers that her nonprofit serves.

She is a dedicated and committed advocate for the Rare Disease Community.

The Amyloidosis Foundation, like most single rare disease patient focused organizations, is powered by a small staff. Kathi has one job title, but she commonly refers to herself as a “Jill of all trades.”

Dealing with the ongoing COVID-19 pandemic has made 2020 a very different year for everyone. Unfortunately for Kathi, the pandemic is not the only thing that has complicated her world lately.

Professionally, when your goal every single day is to help others and do what you can to make their lives better, the challenges of the pandemic make the job a little tougher.

What has added to Kathi’s perspective, is also enduring her own personal battle with a recently diagnosed case of heart failure, unsure exactly of the underlying cause. And like the rare disease patients she serves, the pandemic has impacted her access to treatment and answers. 

“It took me six months to get my diagnosis. At first I was so relieved and I’m not afraid to say I cried because I was relieved to have some kind of answer. I was no longer afraid of my shortness of breath and all the other symptoms I was experiencing,” Kathi said. “There’s certain medications I need that we have been concerned about getting and I can’t get my appointments scheduled because of COVID-19.  

“I was supposed to have an appointment one day after my state, Michigan, shut down. They are just adjusting my medications and I’ve had some Telehealth appointments. Everyone is so far behind. I’m scheduled, but it probably won’t be until August or September until I get an appointment.” 

Kathi’s diagnostic journey includes all the familiar challenges – access to care, worries about symptoms, adjustments in medications, difficulty getting answers when it comes to a diagnosis – that rare disease patients face. These very challenges are what Kathi works to overcome as a rare disease patient advocate.

Now it has become a more personal part of her journey.

“I now have an even better understanding of what my patients are talking about on so many fronts,” Kathi said. “It’s been something the last six months is the best way to put it. We have rare disease patients we know are crying out all around the world who are looking for help.”

Having gained a different perspective and understanding from her personal journey has only motivated her to make the obstacles of rare disease patients more clearly understood.

“Like everyone else, what we are hearing from the patients in our community has been tough,” Kathi said. “There was a lot of hopelessness, without their rehab, medication, treatments, clinical trials delayed or canceled … they didn’t have any hope. They are really defeated.  We have patients all over the world and it’s impacting our patient population the same everywhere. We know patients are missing critical appointments and clinical trials are either delayed or shut down completely and never coming back.”

“We all need to work hard to help patients find answers. That has always been at the center of what we do and why we do it. These people need our help.”

Why support rare now?

Nearly 30 million Americans are living with a rare disease and  COVID-19 continues to present a myriad of challenges that is not only impacting the patients but their families and caregivers as well.

At the top of the list is reduced access to vital medical care which, in turn, has exacerbated already existing challenges. Among those already existing challenges include an accurate diagnosis of a complex disease, limited treatment protocol options, financial struggles, absence of hope and mental fatigue for patients, families and caregivers. 

“I don’t think you need to have a rare disease to have had all of this impact you mentally,” said Dr. Justin Hopkin, the father of a son with a rare disease and a rare disease advocate. “Managing the mental aspect of all this has been difficult for everybody. Finances, jobs, social issues … all those things have weighed heavily on most of us, but we know it’s been especially hard on those living with a rare disease.”

The isolation some Americans are feeling as we navigate the obstacle course of this pandemic is how some rare disease patients feel everyday. 

Since March, medical research on diseases other than COVID-19 has taken a huge hit. There have been countless research studies abandoned, suspended or postponed. 

Much is still unanswered about the ultimate impact the pandemic will have on clinical trials, too. That’s because it is unclear how many of these studies will eventually restart and how long it will be before they begin again.

Clinical trials play a critical role physically and mentally for rare disease patients. They show researchers and doctors what does and doesn’t work, and are a critical vehicle for rare disease patients to receive or obtain life altering therapy.

A clinical trial being delayed, interrupted or canceled can be a tipping point for a rare disease patient . They don’t have the luxury in most cases of multiple clinical trials. And the delay, interruption or cancelation of that trial jeopardizes any hope they might have had and could even be life threatening.

All this is going to lead to a healthcare system already pushed to its extreme limits by this pandemic becoming backed up and slowed even more. And it will directly and adversely impact a Rare Disease Community that faces an uphill climb under optimal conditions.

“Like everyone else, what we are hearing from the patients in our community has been tough,” said Kathi Luis, a rare disease advocate. “There was a lot of hopelessness, without their rehab, medication, treatments, clinical trials delayed or canceled … they didn’t have any hope. They are really defeated.”

In April, the National Organization For Rare Diseases (NORD) reached out to patients to gauge the best way to guide support and help for the Rare Disease Community.

Nearly 800 people responded to the survey from NORD’s research team and the results were made public last month.

95 percent of the respondents said they have been impacted at a cost to both their immediate and long-term health and well-being. Nearly three-quarters have had a medical appointment canceled and, of those, 65 percent were offered an alternative appointment via phone or video. 69 percent of the respondents have concerns about medication and medical supply shortages.

“Treating rare and medically complex cases like mine takes multimodal approaches. Remove one piece of the puzzle and the care patients receive results in sub-optimal outcomes. COVID-19 further exposed a glaring problem in the healthcare system by asking us what defines essential medical treatments,” said Marni Cartelli, a rare disease patient. “What if a treatment on its face doesn’t keep someone alive but is supplemental to one that does? Also, we must ask ourselves, is keeping someone alive the only essential medical service? What about keeping someone’s ability to feed themselves? These are all questions I ask myself every single day but society only had to ask itself in this pandemic.”

The time for action to support the Rare Disease Community is now. As we all adjust to what is the most recent new normal, the mental fatigue associated with the unknown for rare disease patients continues.

Uplifting Athletes is uniquely positioned to inspire hope in the Rare Disease Community. The 7,000 Mile Challenge is a way for YOU to get active and rally support for the rare diseases this summer.

Inaugural 7,000 Mile Challenge to support the Rare Disease Community set for July 17-26

Uplifting Athletes is proud to announce the inaugural 7,000 Mile Challenge – a 10-day event starting July 17th that will bring focus and attention to the more than 7,000 known rare diseases.

People affected by a rare disease are fighting against a finite clock that didn’t stop because of COVID-19. We’re letting the Rare Disease Community know that we won’t stop fighting for them!

“We are rallying our extensive network behind one initiative this summer so that we can continue to support our friends and partners in the Rare Disease Community,” Uplifting Athletes Executive Director Rob Long said. “Our team has worked hard to find a way to afford everyone the opportunity to take action and help the Rare Disease Community.”

It does not matter whether you are a casual walker, an avid runner, swimmer or roll on wheels of any kind, you can help make a difference for the Rare Disease Community. To participate in the 7,000-Mile challenge join an existing team, create a new team for you and others, or participate as an individual.  

Track and add your mileage to the collective Uplifting Athletes total using any single day or combination of days throughout the 10-day challenge. You can collect pledges for every mile you contribute to the challenge to support the mission of Uplifting Athletes. 

Join Uplifting Athletes wherever you are July 17th to 26th and rally your support for the Rare Disease Community through activity, donation or both!

To pre-register and start helping Uplifting Athletes Tackle Rare Diseases, visit upliftingathletes.org. Now is a time for action so no one in the Rare Disease Community lives without hope.

Proceeds from the 7,000 Mile Challenge support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Leaders and Uplifting Experiences.

Any questions about the 7,000 Mile Challenge, please send an email to info@uplitingathletes.org.

Uplifting Athletes cancels all annual Lift For Life events for 2020

COVID-19 has led to many adjustments of the college athletic schedule. The football student-athletes and programs Uplifting Athletes work with face a condensed time frame to prepare for the upcoming season under heightened safety precautions.

In order to avoid any additional pressure, Uplifting Athletes made the decision to cancel all our annual Lift For Life events this summer.

On behalf of the Rare Disease Community Uplifting Athletes serves, thank you to everyone who has supported Lift For Life in the past. We look forward to a full Lift For Life schedule in 2021.

Lift For Life is the signature event for universities across the country that are part of the Uplifting Athletes nationwide network of chapters.

It is more important than ever for Uplifting Athletes to be there for our friends and family affected by Rare Diseases. Please stay tuned for a big announcement on Monday June 22 on how you can help rally support for the Rare Disease Community this summer.

NC State Chapter Leader Thomas Ruocchio values opportunity to come together and support a common cause

When NC State tight end Thomas Ruocchio headed to Philadelphia for his first Uplifting Athletes Leadership Development Conference in 2017, he was anticipating a weekend of business and logistics meetings.

Four years later, the outgoing NC State Chapter President appreciates the weekend of connecting with other college football student-athletes bound together by the rare disease cause.

The 2020 conference, held in late January, was Ruocchio’s fourth as a chapter leader and gives him the unique distinction of attending the single most Leadership Development Conferences by a student-athlete.

“I remember the first time I came, I thought this was going to be all about business and logistics,” Ruocchio said. “I’ve learned over my coming four times there is a logistical aspect to this because there has to be. But even more than just the nuts and bolts of running a chapter, it’s about becoming a leader and getting some valuable life skills for everyone involved.”

The annual Uplifting Athletes Leadership Development Conference provides an opportunity for college football student-athlete leaders from different schools to develop relationships that stretch beyond the field, absorb enhanced mission and vision knowledge based on Uplifting Athletes’ four programs and plot a chapter strategy for the upcoming year.

Ruocchio is drawn to the relationships established at the conference and the ability to have 30-40 guys going through the same experiences on different campuses around the country sharing those unique aspects of their journey.

“I was telling my mom about this conference before this year, about what a unique opportunity this is,” Ruocchio said. “The only way to share what you are going through as a college football player is with a teammate. And he’s going through the exact same experience you are.

“Here in Atlanta this year, you get to hear about 30-something unique individual experiences from guys at 20 different football programs. I really enjoy being able to hear everybody’s unique story. It’s a chance to come together to support a common cause and to each share our unique individual stories. You can’t get that anywhere else.”

This year because the conference had an odd number of student-athletes, as the veteran of the group, Ruocchio was offered his own room. But part of the charm of this conference, in his opinion, is being paired up with a roommate from a different school each year.

“I could have probably come to one or two of these and been able to run our chapter at NC State. It’s run so well and we are given all the right tools to be successful at this conference,” he said. “Coming back for the whole experience and meeting people has kept me coming back. I’m sad it’s my last one as a player and chapter leader.”

A lot has changed at Uplifting Athletes during Ruocchio’s tenure as a chapter leader at NC State. His four years of experience has helped, but overall he sees the leadership conference as a strong foundation to have a successful year as a chapter. And recent additions, such as the player panel and an Uplifting Experience, provides an all-around better foundation for young chapter leaders.

“My favorite part has always been the player panel. I always find the questions are so real-life and you don’t run into too many people on campus who can provide you those real-life answers to some of those questions we have about life after football,” Ruocchio said. “I’m on the cusp of being that guy who will start a life after football with the clock ticking, it’s been so valuable to hear from others.”

From a fundraising perspective, the four programs and the Young Investigator Draft have also helped everybody from teammates, to compliance, to each individual donor understand the value of each dollar raised and how it’s being put to good use.

“It’s helped from my perspective as a chapter leader so much to see exactly how the organization is using some of the funds we raise at the chapter level. It’s also given me a much more personal connection to the cause,” Ruocchio said. “Instead of just focusing on raising cash, we are able to connect to the cause. It’s a much clearer understanding of what we are doing together. Early on as a chapter leader I couldn’t really see the entire picture and I don’t know if that was just me being a young chapter leader or what? But I know and understand the cause and our part much clearer today.”

On behalf of the Rare Disease Community we serve, Uplifting Athletes would like to thank Thomas for his dedicated commitment and service to the rare disease cause during his time as a college football student-athlete at NC State.

Rare Disease Research Uplifting Athletes helped fund translating to support COVID-19 fight

Pictured above are University of Pennsylvania researchers Dr. Alberto Japp, ’20 Young Investigator Draft Class (second from left) and Dr. David Fajgenbaum, ’18 Young Investigator Draft Class (third from left). 

We are discovering more every day about the vital role rare disease research plays, not only for those affected by rare diseases, but also for those impacted by more common illnesses as well.

Translational and collaborative research Uplifting Athletes helped fund through its Young Investigator Draft is impacting Castleman Disease patients and provides relative science for COVID-19 patients.

Researchers at the Perelman School of Medicine at the University of Pennsylvania, home of the Castleman Disease Collaborative Network (CDCN), recently announced they know what’s happening at the cellular level of the immune system when cytokine storms occur, and the answer not only informs future potential Castleman therapies, but may also provide new insight into why similar events take place in COVID-19 patients.

The researchers recently published their findings in the Journal of Clinical Investigation Insight.

“This is why we launched the Young Investigator Draft initiative. We wanted to elevate and fund these incredible researchers to allow them to do what they do best, use the power of science to change the lives of those in the rare disease community we serve,” Uplifting Athletes Executive Director Rob Long said. “We always understood the potential of what could be unlocked by supporting rare disease research. But we were thrilled to learn of the impact that this research was having during the COVID-19 pandemic.

“We are proud to support the incredible researchers at the Castleman Disease Collaborative led by Dr. David Fajgenbaum through the Young Investigator Draft.”  

Uplifting Athletes established the Young Investigator Draft to fund bright young investigative researchers performing collaborative and translational research in order to positively impact treatments and potential cures for the entire Rare Disease Community.

Dr. David Fajgenbaum is the senior author of the study and was part of the inaugural Young Investigator Draft class in 2018. Fajgenbaum is the Executive Director of the Center for Study & Treatment of Lymphadenopathies & Cytokine Storms, assistant professor of Translational Medicine and Human Genetics, Executive Director of the Castleman Disease Collaborative Network (CDCN), and a Castleman patient himself.

“With iMCD, just as with COVID-19, it is the body’s hyper-response that’s deadly rather than the disease itself, and this study gives us new clues about why the immune cells are out of control and what we can do to rein them in,” Dr. Fajgenbaum said.

He also says he hopes this work will prompt others in the field to consider different ways to approach the cytokine storms COVID-19 patients are experiencing. A provisional patent has been filed for a new treatment approach involving inhibition of JAK based on this work.

The published study was funded by the CDCN, the National Heart, Lung, and Blood Institute, the Hematologic Malignancies Translational Center of Excellence of the Abramson Cancer Center and Uplifting Athletes.

Learn what partner organization Horizon Therapeutics is doing to help combat COVID-19

Uplifting Athletes is honored to enjoy a fruitful and expanding partnership with Chicago-based Horizon Therapeutics.

Horizon has been a believer in our innovative way to fund rare disease research since the beginning, supporting all three years of the Young Investigator Draft. Their commitment to the Rare Disease Community, rare disease research and our initiative to fund up and coming young investigative researchers has helped spark growth around the event.

Horizon’s commitment to Uplifting Athletes climbed to another level earlier this year when a partnership was formed involving Uplifting Athletes’ Reps For Rare Diseases Program and Horizon’s #RAREis initiative. Horizon sponsored the program and committed up to $35,000 in a dollar-for-dollar match and in return its #RAREis program was exposed to a new audience.

In this time of a world pandemic, many in the Rare Disease Community are doing their very best to support the patients and families that make up one of the most vulnerable populations impacted by  COVID-19 or the novel coronavirus.

We are proud of our corporate partner, Horizon Therapeutics, for their commitment to others during this time of need by donating $1.5 million to COVID-19 response efforts in Illinois and other impacted U.S. and global communities.

Those dollars will support residents who need access to critical services such as emergency food and basic supplies, interim housing and shelter and primary health care services.

Horizon is focused on researching, developing and commercializing medicines that address critical needs for people impacted by rare and rheumatic diseases. 

Learn what partner organization Castleman Disease Collaborative Network is doing to help combat Covid-19

Uplifting Athletes values its relationship with Dr. David Fajgenbaum and the organization he founded, the Castleman Disease Collaborative Network (CDCN). It started when Uplifting Athletes’ founder, Scott Shirley, and Dr. Fajgenbaum crossed paths for the first time eight years ago.

The developing relationship has always featured two different paths, but with the common goal of serving the Rare Disease Community and looking for avenues to join forces in order to strengthen our common bond of supporting the community we serve.

Dr. Fajgenbaum was instrumental in  helping to guide Uplifting Athletes’ research commitment of funding individual researchers through our Young Investigator Draft. He was selected to be part of the first draft class in 2018 and, based on the caliber of research conducted in the CDCN lab, Uplifting Athletes has partnered with the CDCN to fund one of its qualified young investigators all three years the event’s been held.

In this time of a world pandemic, many in the Rare Disease Community are doing their very best to support the patients and families that make up one of the most vulnerable populations impacted by  COVID-19 or the novel coronavirus.

Dr. Fajgenbaum, a highly respected clinician, researcher and author, and his organization are focusing their resources in the hopes of finding a way to repurpose FDA approved therapies to fight back against the spread of the novel coronavirus. In this time of global need, CDCN is shifting gears and using the methods it developed to fight Castleman’s Disease to attack COVID-19.

Uplifting Athletes is proud to share the following excerpt posted by the CDCN on what their team, led by Dr. Fajgenbaum, is doing in response to this pandemic.

When fighting a war, information really matters. You need to know what weapons have been tried and which ones have been most (and least) effective. 

This information helps soldiers to adjust their strategy. The same holds true when fighting a global war against a disease like COVID-19 (or Castleman disease or any disease!). We need to know what drugs have been tried and which ones have worked, so doctors can adjust their treatment strategies. 

Unfortunately, there isn’t a central database to track drugs used for diseases. Instead, thousands of individual case reports and studies are published, each describing a few treatments in a few patients. Some of these drugs originally developed for other conditions that are being repurposed for use in this new condition may be the answer we’re all looking for, but the data aren’t centralized or searchable.

Following the path we blazed in fighting Castleman disease, we decided to assemble a team to read every published COVID-19 paper and extract data on every treatment that has been given to a COVID-19 patient. We set the ambitious goal for our 10 member team to read all 1,000 published papers in 10 days.

The number of COVID-19 papers soon exploded to over 2,000, but thankfully 20 more volunteers joined our team! In 12 days, we read 2,482 COVID-19 articles (1,786 on PubMed, 696 on pre-published Archives) and extracted data on 100-plus drugs used in 5,000-plus patients from 159 papers (and a MD/med student audited every data point).

Now, any physician or researcher in the world can access this open-source database.

And Sheila Pierson, a data scientist in the CDCN lab, is leading the effort to analyze the data to gain insights on which drugs seem to have the clearest benefit for patients.