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.”

21 NFL Prospects join 2020 Reps For Rare Diseases campaign during NFL Combine


For the sixth consecutive year, Uplifting Athletes is empowering NFL prospects with the opportunity to use the NFL Combine as a platform to give back by raising funds and awareness in support of the Rare Disease Community.

Reps For Rare Diseases has been used as a way for athletes to give back at a pivotal point in their quest to play at the highest level as they put their skills on display for NFL teams.

Since its inception in 2015, more than 100 players have participated in this campaign through either the NFL Combine or NFL Pro Day workouts.

This year Uplifting Athletes currently has 21 players who chose to participate in Reps For Rare Diseases 2020 at the NFL Combine including: Grayland Arnold, JaMycal Hasty, Denzel Mims, Clay Johnston, James Lynch and Chris Miller from Baylor, Davion Taylor from Colorado, Jalen Elliott, Alohi Gilman, Tony Jones Jr., Cole Kmet, Chris Finke and Julian Okwara from Notre Dame, Juwan Johnson from Oregon, Rob Windsor from Penn State, Kevin Davidson from Princeton, Sterling Hofrichter and Kendall Coleman from Syracuse, Reggie Robinson and Trevis Gipson from Tulsa and Shaun Bradley from Temple.

“During Combine and Pro Day training, so much time and energy is focused by these young men on achieving their dreams of playing in the NFL,” former NFL player and Uplifting Athletes’ Chapter Success Manager Levi Norwood said. “It is amazing to see so many NFL hopefuls realize, especially during this tiring and grueling process, how impactful their platform can be. We are honored they chose to stand alongside Uplifting Athletes and the Rare Disease Community.” 

Fans and supporters can pledge towards the performance of any one of our NFL Combine participants this year and help Uplifting Athletes tackle rare diseases.

Visit the Uplifting Athletes Reps For Rare Diseases 2020 team landing page, choose your favorite player and make your pledge today.

Horizon Therapeutics plc and Uplifting Athletes announced a new partnership for the 2020 Reps for Rare Diseases campaign. Horizon will match donations up to $35,000 through its #RAREis program, which is dedicated to providing individuals living with rare disease and families access to resources that connect, inform and educate as they navigate their daily lives.

“Thank you to all the athletes participating in Reps For Rare Diseases and good luck as you continue your football journey,” Uplifting Athletes Director of Sports Impact and NFL veteran Brett Brackett said. “This group of athletes displays the empathy and character that helps them stand out amongst their peers. Any NFL team would be lucky to have one of these men representing their organization.”

The proceeds from the 2020 Reps For Rare Diseases campaign support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

39 Uplifting Athletes Chapter Leaders put through paces in Atlanta during 11th annual Leadership Development Conference


The cornerstone of the Uplifting Leaders program is our network of Chapters on campuses across the country led by college football student-athletes.

This past weekend, 39 leaders from 20 schools gathered in Atlanta for a high impact and fast paced weekend of learning and development during our 11th annual Uplifting Athletes Leadership Development Conference.

The 2020 conference provided an opportunity for our Chapter leadership to develop relationships that stretch beyond the football field, to absorb enhanced mission and vision insight based on Uplifting Athletes’ four programs – Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders – and to plot a chapter strategy for 2020.

“The difference for me this year was it’s a new group of guys mostly, but you establish similar quality of relationships,” said Clemson Chapter leader and Tigers’ long snapper Jack Maddox, who was attending his second conference. “I have a year of experience now, so I know more about what’s going on. I’m not overwhelmed as much and I know what we can and can’t do at our chapter. It’s such a valuable weekend.”

Following a meet-and-greet dinner Friday night, the conference kicked off Saturday with a full day of programming. Four breakout sessions led by Uplifting Athletes staff were followed by an “entering the real world” question-and-answer session with former college athletes.

The highlight of Saturday was the Uplifting Experience at the College Football Hall of Fame where 24 rare disease patients, caregivers and families were connected with the Chapter leaders to spend a couple hours experiencing the Hall of Fame together.

“I loved that the athletes had an opportunity to meet individuals with rare diseases outside of a hospital setting,” said Carol Unger, whose 32-year-old son Matthew is diagnosed with the ultra rare disease WAGR Syndrome. “I feel it is important to note that our children grow up, although some may still be at the maturity level of a 7 or 8 year old, and cherish those opportunities to meet with folks from the outside world.”

The first day of the conference closed out with a work session on three of Uplifting Athletes’ main events – Lift For Life, Reps For Rare Diseases and Touchdown Pledge Drive.

“Since Penn State is such an established chapter, my journey here is to learn what else can we do next to help support the Rare Disease Community,” said Penn State Chapter leader and long snapper Chris Stoll, who is in line to be the next PSU Chapter President taking over for quarterback Sean Clifford.

“I’m very excited to be more involved at another level. Sean did a great job and put a lot into it. But he’s our starting quarterback now and that’s a big job. I’m pumped to be here again and to meet so many guys who have passion for the rare disease cause and for using their platform to make a difference. And I’m very excited to get more involved at the next level.”

Sunday started with Dr. David Fajgenbaum, a former Uplifting Athletes Young Investigator Draft grant recipient, founder of the Castleman Disease Collaborative Network and rare disease research pioneer, sharing his story via a live video conference.

The conference wrapped up with some additional highlights of Uplifting Athletes’ programming that is available to support the rare disease cause and a work session to kick off 2020 at the chapter level.

A special thank you to all our sponsors and supporters who made this conference possible, Deloitte, Sanofi Genzyme, Jean Campbell and JFC Consulting and the College Football Hall of Fame. With your help, these young men are making a difference in the Rare Disease Community.

Beyond The Trophy 2019: Get to know Florida State Chapter President and linebacker DeCalon Brooks


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: DeCalon Brooks

College: Florida State University

Height, weight, class, position: 5-10, 209-pound, redshirt sophomore, linebacker

High School: Gaither High School in Tampa, Fla.

About DeCalon: Became an impact player for the Seminoles as a redshirt freshman in 2018 by appearing in 11 games and making seven starts. Earned ACC Linebacker of the Week for his stellar career day against Louisville. DeCalon is the son of Derrick Brooks, a member of the NFL and Florida State Hall of Fame. This season he has appeared in 11 games and has 15 tackles. When the FSU program went through a transition of leadership, DeCalon Brooks stepped forward and took a leadership role in helping Uplifting Athletes remain a part of the Seminoles’ program. The Tampa native attended the 2019 Leadership Development Conference and was inspired by the rare disease cause and the programming to make something happen. This summer Florida State held a Lift For Life after a one-year absence on the calendar and Brooks, the President of the FSU Chapter, played an instrumental role in making the event to support the Rare Disease Community happen.

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

BROOKS: Getting my first sack against Louisville in 2018.

What drove you to get involved with Uplifting Athletes?

BROOKS: I wanted to join when I heard Uplifting Athlete helps fund research for diseases and it is a great way to serve the community and collaborate with different teams.

What have you learned from your experience with Uplifting Athletes?

BROOKS: I learned it is really bigger than football and that we can use our platform to better other people’s lives.

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

BROOKS: I would tell them if they didn’t play a down of football, what college would they go to? Because you are going to spend the next 3-4 years of your life at college. So you want to make sure that university will better you academically, athletically and as a man.

Who is your favorite NFL player and why?

BROOKS: Von Miller is one of my favorite players. He has a lot of passion for the game and it shows on the field.

DECALON ON THE HOT SEAT

What is your perfect pizza?

BROOKS: Pepperoni

All time favorite movie?

BROOKS: New Jack City

What is your go-to fast food restaurant?

BROOKS: Whataburger

Favorite sports team (any sport)?

BROOKS: In basketball it’s the Heat, and in football the Bucs

What is the most used app on your phone?

BROOKS: Snapchat

Notre Dame Chapter welcomes Rare Disease patients, siblings and caregivers to Uplifting Experience bowling event


An important part of the Notre Dame Chapter heritage is the annual bowling event the Fighting Irish started in 2014.

This past weekend the Notre Dame Chapter used its event at the Strikes & Spares Event Center in Mishawaka, Indiana to host an Uplifting Experience for rare disease patients, families and caregivers.

More than 100 people – the largest attendance in the six-year history of the ND Chapter bowling event – packed the lanes for two hours of fun and inspiration.

“This was way bigger than anything we’ve ever had. It has been awesome to see how this event has grown and the impact the patients and football players have on each other,” said Uplifting Athletes Executive Director Rob Long, who attended the event Sunday morning.

“More than 30 Notre Dame football players showed up and they did a phenomenal job. There were more than 70 patients, siblings and caregivers The bowling alley staff did a phenomenal job. This is a community business giving back by donating their facility to make this possible. We are so proud of what this Uplifting Experience has become.”

When the Notre Dame Chapter joined the Uplifting Athletes team six years ago the annual bowling event was primarily an awareness event for Uplifting Athletes and the Rare Disease Community. 

As more rare disease patients, families and caregivers started coming to the event, the impact of those relationships spawned a shift in the focus of this event from just awareness to all about making this a special day for rare disease patients, their families and caregivers.

“It was great to see how happy the kids were and how great the players were with the kids,” Long said. “A bowling event like this a perfect Uplifting Experience and benefits everybody involved.”

For Seattle Seahawks WR Malik Turner the rare disease cause is personal


Seattle Seahawks rookie wide receiver Malik Turner is passionate about the rare disease cause.

He took part in Lift For Life as a member of the Illinois Chapter of Uplifting Athletes. Turner also supported his cause by participating in the Uplifting Athletes Reps For Rare Diseases campaign for his NFL Pro Day.

It was during his Reps For Rare Diseases campaign that Turner made the connection that one of his University of Illinois classmates, Holt Erikson, was a rare disease patient. Once he learned more about Holt’s story, Turner felt a deeper connection to his friend.  The rare disease cause became personal.

“What draws me closer to the rare disease cause is personally connecting with someone that has gone through the struggle,” Turner said. “That definitely drew me closer to it.”

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That deep and personal relationship moved Turner to do everything in his power to use his platform as an elite athlete to inspire the Rare Disease Community with hope.

And Turner was not going to let an injury derail his commitment to making a difference for the Rare Disease Community.

Two weeks prior to his Pro Day workout Turner suffered a fracture in his foot. That injury meant he would not be able to participate in the biggest workout of his life.

Turner felt compelled, though, to honor his commitment to the rare disease cause and on his Pro Day still participated in the bench press. With his friend Holt on his mind, Turner went out and beat his bench press goal by one repetition despite being injured.

MALIK 1When he made it to the NFL, Turner wanted to continue that deeply personal 1-on-1 relationship with those battling rare diseases.

Once Turner secured a spot on the Seahawks roster, he almost immediately started looking for ways to do even more to support his cause. Working together, Turner and Uplifting Athletes teamed up to host an Uplifting Experience for a rare disease patient family in the greater Seattle area.

Earlier this month Turner hosted ADNP patient Tony Sermone, his twin brother Rocco and Tony’s parents, Sandra and Rich at the Seattle Seahawks’ Virginia Mason Athletic Center for several hours.

They toured the Seahawks locker room, interacted with other Seattle players, worked out on the practice field together and Turner walked them through a day in the life of an NFL player.

It was during this experience that Turner was able to show his passion for the rare disease cause – unveiling the cleats he will wear for the NFL’s My Cause My Cleats campaign during this Sunday’s game at home against San Francisco.

MALIK FAMILY GAME

 

Above the Seattle skyline painted on the on the back of his right cleat, are the initials “T” and “S” in Tony’s honor. The initials “H” and “E” are on the back of left cleat above the block “I” University Illinois logo to honor Holt.

“I needed to be more aware of exactly what rare means and how it’s not funded and needs more attention. Connecting to Holt and Tony made me want to dig deeper,” Turner said. “I didn’t know whom I impacted and when I saw that … it impacted me.

“Those little things that are bigger than me and bigger than football is something that’s important to me.”

Turner has chosen the Rare Disease Community as his cause and is supporting Uplifting Athletes during the NFL My Cause My Cleats campaign.

He is asking you to support his cause by making a donation through his Tackle Rare Diseases campaign.

The proceeds raised by Turner’s My Cause My Cleats campaign supports the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders.

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Special day on campus for Princeton-Penn rivalry game involves Rare Disease Community


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You could feel the electricity in the air Saturday on campus as the Princeton football team prepared to host rival Penn in the final game of the season.

The Tigers were on the cusp of an undefeated season and claiming the Ivy League championship.

Saturday was also a special day for the Rare Disease Community inside Princeton Stadium.

The leaders of the Uplifting Athletes chapters at each university picked this match-up to serve as a Rare Disease Awareness Game to show their ongoing support for the rare disease cause.

Players from each team wore Uplifting Athletes stickers on their helmets and pulled on blue #WeTackleRare wristbands in a show of unified support for the Rare Disease Community each chapter champions.

And with the help of Uplifting Athletes Executive Director Rob Long and Director Sports Impact Brett Brackett, the Masciantonio family from The For The Love Of Grace Foundation was able to attend their first college football game together.

It was a busy Saturday in Princeton, New Jersey.

Gianna Masciantonio is a 4-year-old rare disease patient who is diagnosed with a rare brain tumor. Her parents, Joe and Kristen, started the For The Love Of Grace Foundation in honor of their daughter.

“We wanted to help others in the same situation,” Kristen Masciantonio said. “We give 100 percent of what we raise to research and to help families. We don’t have any overhead. I mean, who can you not help other families, right?”

In between the first and second quarters Gianna, her older brother Dominic, Joe and Kristen and Uplifting Athletes staff were recognized on the field as an extension of the hard work Princeton and Penn football programs put forth to support the Rare Disease Community.

“People just don’t fully understand what families like ours and others like ours go through,” Kristen Masciantonio said. “This is an important part of the support we need to feel. Support is important.”

Princeton went on to beat Penn to complete their perfect season and hoist the trophy as Ivy League champions. On the field they are competitors, but off the field the Tigers and Quakers football student-athletes share a common bond of shining a spotlight on the Rare Disease Community.

Thank you to the athletic departments at Princeton and Penn for supporting the football student-athletes of each chapter to make this a special day that extends well beyond 60 minutes of football.

 

 

Penn and Princeton football programs team up to make 110th meeting between the rivals Saturday a Rare Disease Awareness Game


PENN PRINCETON RDAG 18 GRAPHICUplifting Athletes is proud to announce that the Princeton and Penn football programs have joined forces for their upcoming 2018 regular season finale to shine a spotlight on the Rare Disease Community.

The chapter leaders from each school, with the support of both universities, worked together to make the match-up between the Tigers and Quakers on Saturday, November 17 at Princeton Stadium an Uplifting Athletes Rare Disease Awareness Game.

Rare disease patients, caregivers and families will be in attendance at this traditional rivalry game, and will be hosted by each university to show their ongoing support of the rare disease cause.

Players from each team will have Uplifting Athletes stickers on their helmets and wear #WeTackleRare wrist bands in a show of unified support of the Rare Disease Community each chapter champions.

“In the competitive landscape of college football, Penn Princeton is one of the great rivalries,” Uplifting Athletes General Manager Brett Brackett said. “We were thrilled when our two chapter leaders agreed to put their on-field differences aside to share game day with local rare disease patients, and add another dimension that shows ongoing support for the entire Rare Disease Community.”

During one of the television timeouts during the game, rare disease patients, families and caregivers will be the honored on the field in recognition of the two programs coming together to support one cause.

During the month of October each school participated in the month-long Uplifting Athletes Touchdown Pledge Drive to support the Rare Disease Community. The chapter leaders of each school wanted to extend that opportunity to financially support their Touchdown Pledge Drive to include this rivalry game and make each touchdown scored matter more.

Thank you to the athletic departments at Princeton and Penn for supporting the football student-athlete leaders of each chapter by allowing them to recognize the Rare Disease Community as part of this game.

One mother’s uplifting ALGS rare disease journey for her family


 

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Uplifting Athletes hosted Roberta Smith and her daughters for an Uplifting Experience at the August 31st Rare Disease Awareness Game between Syracuse and Western Michigan in Kalamazoo, Michigan. We were fortunate enough to learn Roberta’s Rare Disease story and we are honored to provide the platform for Roberta to share her story.

By Roberta Smith

You look left, you look right but it’s just you. Starting in rare is like walking a path alone.

Rare, most often, is not something you find common ground on with anyone around you.

Meeting others traveling a similar path is often arduous and challenging. Geographic distance or unsuccessful searching contribute to the lack of connection.

Rare disease can feel isolating. It can be hard for family, friends, neighbors, and co-workers to fully understand what is happening and it can be hard for anyone to explain.

Often, when people try to relate, they connect by sharing personal medical experiences, Google search results or home remedies. Under the stress, this tends to drive a wedge in relationships and over time makes them uncomfortable. Attempts to explain the medical turmoil or include loved ones in the experience becomes very difficult, despite good intentions all around. This leaves a rare disease family feeling alone in many cases and that’s a horrible place to be when trying to survive a rare disease life change and the challenges that come with it.

I never imagined the weight or impact of “alone” on families until I experienced it personally. My sense of hope, ability to find happiness, relate, maintain a job, friendships and relationships were all deeply affected when my family was inundated with the daily chaos of “rare”.

I’m Roberta Smith, President of Alagille Syndrome Alliance (ALGSA) and mom to 14-year-old twin daughters, Cloe and Claudia. This is my journey as a mother of a rare child.

I was 26 years old when I strapped in for the rare disease ride and my life would forever be changed.

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Photo courtesy of Andrea Mosley-Budrow

Since she was born, Cloe has battled the rare disease Alagille Syndrome (ALGS). This syndrome can affect multiple organ systems including liver, heart, and kidneys, as well as, the skeletal and vascular systems. ALGS is completely unique to everyone who has it. Varying degrees of severity and involvement make ALGS a very complex rare disease to understand, treat, and research.

With more than 7,000 rare diseases, stories inside the rare disease community, like mine, all have similar threads. Sharing stories builds awareness and shines a light on the difficult day to day struggles our families endure. Stresses like maintaining employment, divorce, financial strain, medical challenges make life stressful. These all contribute to feeling alone and can result in very heavy feelings of guilt and emotional turbulence. In rare we can’t be alone. Rare needs to be inclusion.

The first 100 hours of our journey was filled with fear, confusion, and upset. Being told Cloe’s liver enzymes were very indicative of “liver disease”, we struggled to grasp the depth of that term. During the initial few days we traveled to a big hospital, hours from home. We didn’t realize we would be there for many days. Overwhelming was the testing, constant lab draws, and the continual swarming of medical professionals from different specialties. We tried to grasp what each one’s part played in the liver disease diagnosis. Fatigue became our normal state. Emotions ran high. Financial worries continued to rise as we learned about different organ involvement and increased medical issues. Like starting a big puzzle, we had no idea what the overall picture would be and we were scared.

It was a storm of complete and utter anguish. A confusion of chaos and frenzy that came with no warning. We learned quickly that appointments, travel, and hospital stays were going to be commonplace.

Getting home after the first inpatient stay didn’t allow for rest. Cloe’s appointment schedule became erratic and daunting. The road to diagnosis proved to be extremely difficult. We didn’t understand what being our own advocate meant and as a result endured extraordinary and unnecessary inconveniences like traveling far for simple imaging and attending separate appointments with specialists that could have been combined. We learned over time and with experience how to navigate the issues, but each contributed to the overwhelming nature of the situation.

After a whirlwind 2 months, Cloe had a diagnosis. We didn’t know it at the time but an introduction to a rare disease like Alagille Syndrome was something many families never get and a diagnosis at 2 months was faster than most. Along with that, when a rare disease is identified, it’s usually unheard of by most medical professionals and individuals.

The stress of a horribly busy medical schedule lead to my resignation at work and our lives became entrenched with activities surrounding Cloe’s Alagille Syndrome. As her medical involvement unfolded, we became very aware that this was a diagnosis filled with complexity and uncertainty. Learning everything about it became my mission and being invested in every appointment was important to me.

Through Cloe’s testing I learned about Nuclear Medicine. While holding Cloe still during a scan, a kind technologist taught me why this imaging was important. Our conversation turned to schooling and eventually a career path opportunity presented itself. That evening after I laid the kids down I applied to the only university in Michigan who had a Nuclear Medicine program. I formulated a long-term goal I could latch onto and hoped it would help alleviate the financial situation we found ourselves in since ALGS came into our lives. With a 3-year wait list, I figured I’d know just how severe Cloe’s ALGS was and prayed the dust would settle by the time the program opened up for me. I needed something to focus on. I didn’t want to get swallowed up in the grief of the situation.

Tensions at home increased, as did the strain of home medical care responsibilities. Cloe’s failure to thrive became a big obstacle resulting in NG-tube placement with midnight feedings on a pump, a care plan I learned to execute myself. Placing the NG-tube was difficult. Pushing the tube into Cloe’s nose, checking for placement with a stethoscope, measuring the feeds, pump speeds and settings … it was a whole new world and one that I took seriously.

Unfortunately, as Cloe’s health declined, the relationship between their dad and I also suffered. Shortly after the twins’ first birthday, we separated and ended a long-term relationship that would continue to waver on and off due to the extreme responsibility that came with our rare disease journey.

An opportunity to start into the Nuclear Medicine program at Ferris State University came earlier than expected. I moved closer to family and, with my sister’s help, was able to attend classes and work through a challenging degree during some of the most difficult medical times for our family.

I took my final exams at my daughters’ bedside during a 14-day hospital stay. Recognized by my peers and professors for fighting through significant adversity to achieve my degree, I was awarded the FSU Maria Gordoba Award. Adversity is what every family endures when dealing with a rare or undiagnosed disease and with adversity blossoms growth, knowledge, and opportunity. Maintaining a positive attitude helped push me forward, holding close the one-day-at-a-time motto.

Alagille Syndrome has without a doubt been a life altering challenge, but I feel it’s led my family on a path we were meant to be on. The gifts I’ve taken away from this experience are humbling. Working through the Alagille Syndrome Alliance to bring hope to other families and contribute to solutions that could have helped my family are so important to me.

Today my daughter with ALGS is thriving. Involved in a clinical trial and currently medically stable, Cloe is an amazing girl. Our family advocates and engages deeply in the success of our ALGS community fighting for better treatments and a cure for Alagille Syndrome. Finding the silver lining through the darkness, a real challenge, has allowed us to help others. Alagille Syndrome is a rare disease. It’s complex, unpredictable, and difficult to navigate and it’s something I thought would destroy my family. What started as a journey alone has turned into a journey with a beautiful community all working to make the world of rare disease less isolating.

Rare should not mean alone. It should not mean scared, financially broke, without employment, or divorced. Rare should mean inclusion. It should mean better treatments, a road to a cure … it should mean together we will get through.

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Western Michigan and Syracuse football programs team up Friday night to shine a spotlight on Rare Disease Community in 2018 opener


RDAG 18 GRAPHICUplifting Athletes is proud to announce that the Western Michigan and Syracuse football programs have joined forces for their upcoming 2018 season opener to shine a spotlight on the Rare Disease Community.

The chapter leaders from each school, with the support of both universities, worked together to make the match-up between the Broncos and Orange on Friday, August 31 at Waldo Stadium an Uplifting Athletes Rare Disease Awareness Game.

Players from each team will wear Uplifting Athletes stickers on their helmets to support Uplifting Athletes and the Rare Disease Community. During the third time-out in the first quarter, rare disease patients will be the honored on the field in recognition of the two programs coming together to support one cause.

14-year old rare disease patient Chloe Hunt from Alagille Syndrome Alliance, along with her mother and twin sister, will join the teams on the field.

The Western Michigan chapter leaders were inspired by Syracuse Chapter President and offensive lineman Sam Heckel’s rare disease journey and the courage shown by Orange quarterback Sam Culpepper during his recent cancer battle.

Thank you to the athletic departments at Western Michigan and Syracuse for supporting the football student-athlete leaders of each chapter by allowing them to recognize the Rare Disease Community as part of this game.