Beyond The Trophy 2020: Get to know Colgate Chapter President and quarterback Jake Froschauer


Each week during the college football season we will feature a player who is an officer for an Uplifting Athletes Chapter for our Beyond the Trophy series.

Name: Jake Froschauer

College: Colgate University

Height, weight, class, position: 6-3, 210 pounds, senior, quarterback

High School: Summit High School in Summit, New Jersey

About Jake: A three-sport athlete who also played basketball and baseball, Jake came to Colgate with four years of experience, a 35-9 record and leadership skills as a team captain his senior year. The two-time Patriot League Academic Honor Roll member saw his first collegiate action in 2019 when he made four appearances as the Raiders’ QB including one start against Maine where he threw for 75 yards and a touchdown in the first half before going down with an injury. Jake has a personal family connection to the Rare Disease Community and after participating in Lift For Life events, he stepped up and became a Chapter Leader in 2020.

What is your most memorable experience as a college football player?

FROSCHAUER: Getting my first collegiate snap against Air Force.

What drove you to get involved with Uplifting Athletes?

FROSCHAUER: I decided to get involved with Uplifting Athletes because it supports a great cause and I have had family members pass away from rare diseases.

What have you learned from your experience with Uplifting Athletes?

FROSCHAUER: How important it is to support young rare disease researchers because it is difficult for them to have access to funding.

What advice would you share with someone in high school looking to play college football?

FROSCHAUER: I would tell them to focus on your game and to be as transparent as possible with coaches. Communication is the key.

Who is your favorite NFL player and why?

FROSCHAUER: Taysom Hill of the New Orleans Saints because of his versatility.

If you could have lunch with any one person (dead or alive), who would you choose and why?

FROSCHAUER: Michael Jordan because he is the greatest of all time (The G.O.A.T). 

JAKE ON THE HOT SEAT

What is your perfect pizza?

FROSCHAUER: Buffalo chicken

All time favorite movie?

FROSCHAUER: Top Gun

What is your go-to fast food restaurant?

FROSCHAUER: Chik-fil-A

Favorite sports team (any sport)?

FROSCHAUER: Chicago Bears

What is the most used app on your phone?

FROSCHAUER: Instagram

Complex rare disease has Kaci Adams searching for medical answers


Kaci Adams isn’t a doctor, but sometimes she has to feel like one. The married 43-year-old mother of three has the rare disease Klippel-Feil Syndrome (KFS).  

Klippel-Feil Syndrome is an extremely complex disease with many potential symptoms and disease paths. Finding a medical specialist or expert to advise and help with her rare struggle has been difficult.

“I found out a lot about my disease on Facebook,” said Kaci, who lives in Vancouver, Washington. “I do a lot of my own research. I buy books, read articles and do whatever I can to get as much of the best knowledge as I can about myself.”

Klippel-Feil syndrome is a rare bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The specific symptoms associated with KFS vary greatly from one person to another.

In addition to the fusion of certain vertebrae, KFS can be associated with a wide variety of additional anomalies affecting many different organ systems of the body. The progression and severity of KFS can vary greatly depending upon the specific associated complications and the Class of KFS. Some cases may be mild; others may cause serious, life-long complications.

“It started five years ago around Christmas I was having neck pain and it wasn’t going away. I thought maybe I was sleeping funny or something,” Kaci said. “I saw a doctor and was told they found KFS. Then I had surgery done on my upper spine. I was told I wouldn’t be in pain anymore. I had high hopes. But the pain was still there. So I did more PT and pushed through and the pain was still there.”

And five years later, the pain is still a major issue complicated by a growing list of symptoms associated with her KFS diagnosis including fibromyalgia and Chiari malformation (CRE) Type I.

“It’s been a long journey over the last years to find doctors who know what they are doing,” Kaci said. “With everything going on, I can kind of put two and two together now if I look back based on everything I know now.

“In all honesty I still haven’t been given enough information from doctors so far. I’m doing a lot of the research on my own to figure out what tests I might be able to take and being able to explain the issues I’m having to maybe, hopefully, finding an answer as to why.”

What Kaci knows for sure is the pain she experiences is fairly consistent and prevalent. And that constant battle, plus trying to be a mother to her two daughters at home, Mackenzie (14) and Averie (11), makes each day a challenge.

“It’s the pain, and trying to manage the pain that is tough,” Kaci said. “I see a pain management doctor who is amazing. We try something and it works for a while and then it doesn’t. I’ve tried so many things for pain.

“I have moments where I ask myself … I’m only 43 and is this what I have to look forward to the rest of my life?”

The impact of her daily struggles – extremely rare and complex disease, multiple symptom flare-ups, lack of information from medical experts and pain – has been exacerbated in 2020.

Kaci isn’t exactly sure medically speaking if she would be classified as having an underlying condition that would put her at higher risk if she contracted COVID-19.

All she knows is that since March when the pandemic first hit the United States, her anxiety has been elevated on many fronts.

When the virus first appeared Kaci said she was nervous and kept close tabs on what was happening. She and her girls stay inside for the most part. Her husband of nearly 15 years, Seth, does all the shopping. Seeing people refuse to wear face coverings not only angers Kaci, it makes her even less inclined to leave the house.

“To be honest I’m terrified,” she said. “I don’t want to get this. I have no idea how this would impact me. My one daughter has some of the same physical issues as me and that has me very, very nervous as well. I’ve basically been isolating.”

Staying at home and not being able to go out or do much isn’t a stretch for Kaci. It’s been a good bit of her life the last five years. Seeing how family, friends and fellow Americans have dealt with this has been oddly bizarre in her view.

“It was weird to see people having to live at home and deal with the same kind of isolation I’m used to. It was still bizarre, but I could relate for sure. It sucks, right?” she said. “I really feel for people because it’s been difficult and hard. But we have this whole community of people with rare diseases that this is their life.” 

Kaci feels compelled to advocate for herself and other patients in the Rare Disease Community despite the current circumstances in the world.

“Those of us in the Rare Community are used to unknowns. We are not afraid. My hope is that this is an eye-opener for people,” Kaci said. “Be more intentional about what matters, being respectful of others and listen to what science is saying.

“I want more doctors focused on rare diseases, but right now they need as many of them as possible working to stop this virus. Be grateful for the work they are doing.”

A rare journey inside a COVID-19 world


Spend more than five minutes with Marni Cartelli and there is no possible way to miss her passion. She proudly wears it on her sleeve.

What drives her passion is a will and commitment to battle a difficult and complex rare disease that makes a day without pain nearly impossible.

Marni was diagnosed with Complex Regional Pain Syndrome (CRPS) (formerly called Reflex Sympathetic Dystrophy) in 2016. CRPS is a disorder in which pain, occurring spontaneously or from a sensory stimulus, is disproportionately far more exaggerated than it should be. 

“Treating rare and medically complex cases like mine takes multimodal approaches. Remove one piece of the puzzle and the care patients receive results in suboptimal outcomes,” said Marni, a former medical worker who suffered a shoulder injury in 2015 that spurred her rare diagnosis less than a year later.

Marni possesses bull-like determination to endure anything and everything in order to keep pushing forward. She has a loving and supportive husband, John, and an outstanding team of doctors she trusts.

Despite all those assets in her toolkit, Marni admits the last several months have been some of the toughest and most difficult during her half-decade rare journey.

Following a physically grueling, but emotionally rewarding, two-week stretch on the road doing rare disease advocacy work, Marni knew her body was going to be wiped out. But, she also knew her critical bi-annual regimen of six weeks of infusion therapy was on deck and that would provide the physical relief she needed.

Marni and John live on Long Island. When New York went into COVID-19 lockdown the third week of March, her six-week infusion treatment schedule evaporated. Her body continued to struggle without the treatment, and there was nothing Marni or her doctors could do.

“It was a difficult decision. You had to weigh the public health part of it when the lockdown happened,” said Dr. Edward S. Rubin, the acute and chronic pain management doctor who is part of Marni’s medical team. “After six or seven weeks people were in such distress, I opened up (treatment) for one person at a time. I would spend six or seven hours on a Saturday doing one person.”

Dr. Rubin brought Marni in for treatments on back-to-back weekends in late April. He offered to do more, but the other shoe dropped and Marni had to refuse additional treatments.  Marni and husband John came face-to-face with another reality many rare disease families confront – financial struggles and hardship.

John’s main source of revenue dried up when the entire state of New York court system shut down. He’s an attorney with his own practice so his main source of income evaporated. And when Dr. Rubin offered another round of infusion treatments, the reality was the Cartelli’s couldn’t afford it.

“I feel so much guilt with the financial side of it. John is our income. I get some disability but it’s not much. The financial side of it always weighs heavily on me,” Marni said. “He felt terrible about what was going on, he was watching me deteriorate and struggle. He was willing, if it came to it, to deliver Uber Eats to make some extra money so I could get another treatment.

“My guilt was off the charts. I got the two treatments and I stabilized enough that I figured I could ride it out. It’s torture because I know the money is not there and I also know I’m headed back over that edge. I’m up at night.  I’m shaking.  My body is breaking down. John is feeding me. It was a dark place.”

She went into a physical and mental free fall she never saw coming. It led her to places she thought were well behind her on her rare disease journey. The end result was several dark and difficult months in lock down.

The loss of hope and that feeling nobody is listening when you are screaming out for help came roaring back for Marni. It was a road she had been down before when she was originally diagnosed in 2016, and didn’t think it was a bridge she would have to cross again.

“That anger and frustration I felt. I pulled away from everyone and I got depressed is the best way of putting it,” she said. “I felt like at times I might as well just crawl in a hole and be done with all this fighting that I’ve been doing. It changed how I view myself. I realized I’m not as over things in terms of my diagnosis and my progress as maybe I thought I was. I really honestly thought I was over it and had moved on and was this bad ass advocate. I’m definitely not.

“I’m still questioning my place. I’m still mourning my old life. And going forward, I’ve wondered what is my value or worth. I think this pandemic brought out some of the best and some of the absolute worst in us as individuals and as a society.”

As she and John started to pick up the pieces and once again focused on what was required to keep moving forward, Marni discovered going back to her roots as a rare disease patient would play a pivotal role.

“This is our world every day. We are screaming at the top of our lungs all the time about needing more help. The mental health side of this is very real for patients and this has made something difficult already even tougher.”

Marni Cartelli

A chatterbox and outgoing person by nature, Marni found a level of support, inspiration and hope back in 2016 by interacting with other patients with shared experiences inside the Rare Disease Community. Those relationships and friendships fueled her passion.

Marni knew, though, she needed another shot of hope and inspiration to keep battling and fighting. Her passion flame needed another light from the match.

She found it. Only this time it centered around sports – particularly her love of football.

Marni first came in contact with Uplifting Athletes in 2017 at the Global Genes Patient Advocacy Conference. She overheard the team from Uplifting Athletes at the conference talking about football during lunch. Marni is a huge NFL fan and loves her New York Giants. So hearing football talk had her full attention. She had no idea who or what Uplifting Athletes was. But she knew if people were talking football, she wanted to join the conversation.

That was the roots of a blossoming patient-focused relationship using football as the common bond to forge a kinship centered on Uplifting Athletes’ mission and vision colliding to help inspire hope in a patient.

While watching her beloved New York Giants during the NFL My Cause, My Cleats campaign in 2018, she took notice that Giants Punter Riley Dixon was wearing Uplifting Athletes cleats in support of the Rare Disease Community.

Marni avidly supported the New York Giants for many years but this time, after seeing Riley’s cleats, she felt that the players were supporting her. Marni formed an instant bond with Dixon, an Uplifting Ambassador and former Syracuse punter. Since that game, Marni has worn her Riley Dixon No. 9 Giants jersey with pride to her infusions. 

The fact a group of athletes under the Uplifting Athletes umbrella cares is a source of great inspiration to Marni. She can feel their support and that impacts her.  It also ignites her fire to try and connect the patients in her circle closer with Uplifting Athletes so they know it, too.

“This is about the mental health and well being of the people who make up this community. The medical side of this pandemic presents a whole different set of challenges and obstacles. Those types of challenges we are used to coming together to overcome,” Marni said. “There’s a lot of anger in the rare and chronic community against society because society is acting like what they are going through is difficult.

“This is our world every day. We are screaming at the top of our lungs all the time about needing more help. The mental health side of this is very real for patients and this has made something difficult already even tougher.”

Inspired to move forward, and drawing on the lessons she learned during her dark days in lockdown during the pandemic, Marni is back sharing her fiery passion with others in the Rare Disease Community.

“One of the biggest lessons I’ve learned through all of this is I realized being an advocate is not about everybody else, it’s about me,” she said. “I used to think it was not about me. But I realized in order to help others, I had to take care of me. What happens to me has to mean something to me. I have to continue to fight for empathy for me and everybody else, too. Our community needs help.”

In an effort to introduce more rare disease patients to Uplifting Athletes’ mission, Marni formed a team for the upcoming Uplifting Athletes 7,000 Mile Challenge. Team Passionately Rare already has more than 40 members and Marni welcomes anybody inspired to support the rare disease cause to join her team and be a part of the 7,000 Mile Challenge. 

A rare journey inside a COVID-19 world: Part 2


The loss of hope and that feeling nobody is listening when you are screaming out for help came roaring back for Marni. It was a road she had been down before when she was originally diagnosed in 2016, and didn’t think it was a bridge she would have to cross again.

“That anger and frustration I felt. I pulled away from everyone and I got depressed is the best way of putting it,” she said. “I felt like at times I might as well just crawl in a hole and be done with all this fighting that I’ve been doing. It changed how I view myself. I realized I’m not as over things in terms of my diagnosis and my progress as maybe I thought I was. I really honestly thought I was over it and had moved on and was this bad ass advocate. I’m definitely not.

“I’m still questioning my place. I’m still mourning my old life. And going forward, I’ve wondered what is my value or worth. I think this pandemic brought out some of the best and some of the absolute worst in us as individuals and as a society.”

As she and John started to pick up the pieces and once again focused on what was required to keep moving forward, Marni discovered going back to her roots as a rare disease patient would play a pivotal role.

A chatterbox and outgoing person by nature, Marni found a level of support, inspiration and hope back in 2016 by interacting with other patients with shared experiences inside the Rare Disease Community. Those relationships and friendships fueled her passion.

Marni knew, though, she needed another shot of hope and inspiration to keep battling and fighting. Her passion flame needed another light from the match.

She found it. Only this time it centered around sports – particularly her love of football.

Marni first came in contact with Uplifting Athletes in 2017 at the Global Genes Patient Advocacy Conference. She overheard the team from Uplifting Athletes at the conference talking about football during lunch. Marni is a huge NFL fan and loves her New York Giants. So hearing football talk had her full attention. She had no idea who or what Uplifting Athletes was. But she knew if people were talking football, she wanted to join the conversation.

That was the roots of a blossoming patient-focused relationship using football as the common bond to forge a kinship centered on Uplifting Athletes’ mission and vision colliding to help inspire hope in a patient.

While watching her beloved New York Giants during the NFL My Cause, My Cleats campaign in 2018, she took notice that Giants Punter Riley Dixon was wearing Uplifting Athletes cleats in support of the Rare Disease Community.

Marni avidly supported the New York Giants for many years but this time, after seeing Riley’s cleats, she felt that the players were supporting her. Marni formed an instant bond with Dixon, an Uplifting Ambassador and former Syracuse punter. Since that game, Marni has worn her Riley Dixon No. 9 Giants jersey with pride to her infusions. 

The fact a group of athletes under the Uplifting Athletes umbrella cares is a source of great inspiration to Marni. She can feel their support and that impacts her.  It also ignites her fire to try and connect the patients in her circle closer with Uplifting Athletes so they know it, too.

“This is about the mental health and well being of the people who make up this community. The medical side of this pandemic presents a whole different set of challenges and obstacles. Those types of challenges we are used to coming together to overcome,” Marni said. “There’s a lot of anger in the rare and chronic community against society because society is acting like what they are going through is difficult.

“This is our world every day. We are screaming at the top of our lungs all the time about needing more help. The mental health side of this is very real for patients and this has made something difficult already even tougher.”

Inspired to move forward, and drawing on the lessons she learned during her dark days in lockdown during the pandemic, Marni is back sharing her fiery passion with others in the Rare Disease Community.

“One of the biggest lessons I’ve learned through all of this is I realized being an advocate is not about everybody else, it’s about me,” she said. “I used to think it was not about me. But I realized in order to help others, I had to take care of me. What happens to me has to mean something to me. I have to continue to fight for empathy for me and everybody else, too. Our community needs help.”

In an effort to introduce more rare disease patients to Uplifting Athletes’ mission, Marni formed a team for the upcoming Uplifting Athletes 7,000 Mile Challenge. Team Passionately Rare already has more than 40 members and Marni welcomes anybody inspired to support the rare disease cause to join her team and be a part of the 7,000 Mile Challenge.

A rare journey inside a COVID-19 world: Part 1


Spend more than five minutes with Marni Cartelli and there is no possible way to miss her passion. She proudly wears it on her sleeve.

What drives her passion is a will and commitment to battle a difficult and complex rare disease that makes a day without pain nearly impossible.

Marni was diagnosed with Complex Regional Pain Syndrome (CRPS) (formerly called Reflex Sympathetic Dystrophy) in 2016. CRPS is a disorder in which pain, occurring spontaneously or from a sensory stimulus, is disproportionately far more exaggerated than it should be. 

“Treating rare and medically complex cases like mine takes multimodal approaches. Remove one piece of the puzzle and the care patients receive results in suboptimal outcomes,” said Marni, a former medical worker who suffered a shoulder injury in 2015 that spurred her rare diagnosis less than a year later.

Marni possesses bull-like determination to endure anything and everything in order to keep pushing forward. She has a loving and supportive husband, John, and an outstanding team of doctors she trusts.

Despite all those assets in her toolkit, Marni admits the last several months have been some of the toughest and most difficult during her half-decade rare journey.

Following a physically grueling, but emotionally rewarding, two-week stretch on the road doing rare disease advocacy work, Marni knew her body was going to be wiped out. But, she also knew her critical bi-annual regimen of six weeks of infusion therapy was on deck and that would provide the physical relief she needed.

Marni and John live on Long Island. When New York went into COVID-19 lockdown the third week of March, her six-week infusion treatment schedule evaporated. Her body continued to struggle without the treatment, and there was nothing Marni or her doctors could do.

“It was a difficult decision. You had to weigh the public health part of it when the lockdown happened,” said Dr. Edward S. Rubin, the acute and chronic pain management doctor who is part of Marni’s medical team. “After six or seven weeks people were in such distress, I opened up (treatment) for one person at a time. I would spend six or seven hours on a Saturday doing one person.”

Dr. Rubin brought Marni in for treatments on back-to-back weekends in late April. He offered to do more, but the other shoe dropped and Marni had to refuse additional treatments.  Marni and husband John came face-to-face with another reality many rare disease families confront – financial struggles and hardship.

John’s main source of revenue dried up when the entire state of New York court system shut down. He’s an attorney with his own practice so his main source of income evaporated. And when Dr. Rubin offered another round of infusion treatments, the reality was the Cartelli’s couldn’t afford it.

“I feel so much guilt with the financial side of it. John is our income. I get some disability but it’s not much. The financial side of it always weighs heavily on me,” Marni said. “He felt terrible about what was going on, he was watching me deteriorate and struggle. He was willing, if it came to it, to deliver Uber Eats to make some extra money so I could get another treatment.

“My guilt was off the charts. I got the two treatments and I stabilized enough that I figured I could ride it out. It’s torture because I know the money is not there and I also know I’m headed back over that edge. I’m up at night.  I’m shaking.  My body is breaking down. John is feeding me. It was a dark place.”

She went into a physical and mental free fall she never saw coming. It led her to places she thought were well behind her on her rare disease journey. The end result was several dark and difficult months in lock down.

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.