ADVOCATING FOR PATIENT FAMILIES
By Cliff Gorski, UMDF Director of Communication/Governmental Advocacy
Liz Kennerley wasn’t drawn to governmental advocacy. She says advocacy found her. Anybody who knows Liz knows that she is independent, tenacious and powerful. When you meet Liz, you quickly understand that while she battles Complex 1 mitochondrial disease, she is a powerful and well-known force in the halls of the United States Congress. It is not unusual to mention her name during a meeting in a congressional office and have the staff person say, “I know Liz; how is she?”
I first met Liz and her parents over dinner in Washington DC in 2012. It was the night before UMDF would hold its first Mitochondrial Disease Congressional Caucus briefing. We invited Liz to represent the patient community as a guest speaker. Liz knew that she would have about 20 minutes to talk about mitochondrial disease and how the disease impacts her. We knew there would be representatives from congressional offices in the audience, so we wanted to discuss her presentation. The next morning, when the time came for Liz to speak, she knocked it out of the park. We were all so proud of her.
Typically, when we conduct a briefing for Congress, we follow it up with a schedule of meetings in the House and Senate. Participants in UMDF’s Day on the Hill will tell you that these types of meetings require walking long distances. We also meet late into the day, so it can be tiring for a healthy person, let alone a person with an energy depleting illness. So I was quite surprised when, after her speech, Liz asked if she could tag along. I told her it would be a very long day, but Liz wouldn’t back down; she was up to the challenge. I was glad to have her along for the meetings.
Liz does not let her disease define her. Liz makes it very clear to everyone that she is independent and wants to remain that way. “I became a boarder at my high school in tenth grade. The school is closer to my house than our grocery store. My parents wanted me to, and I agreed, so we could have our own space,” Liz recalled. She chose to move out to assert her independence. “It’s hard to stop reflexively reminding another about doing their work, getting up on time, etc., if you’re sharing the same roof.”
After high school, Liz went even further away by accepting admission to Simmons University in Boston, which is about 300 miles from their home in Solebury, PA. “My parents and I joke that it’s far enough away that calling before visiting is necessary yet close enough to reach within hours in case of an emergency.” After earning her degree in Society & Health, Liz became a volunteer with a number of organizations. After those and other intern experiences, Liz went to work for BIO, the world’s largest biotechnology organization providing advocacy, business development and communications services for more than 1,200 members worldwide. She spent the next five years being the voice of patients like her on Capitol Hill. “During college, most of my Fridays were spent volunteering on a complex care inpatient unit at Boston Children’s Hospital, one of our country’s best children’s hospitals, so I know how a variety of health conditions and disparities impact the entire family and society at large,” Liz said.
It’s amazing to sit in a congressional office and watch Liz work her advocacy magic. She educates house and senate members about mitochondrial dysfunction and its links to well-known diseases and illnesses, such as Parkinson’s, cancer, obesity, cardiac issues, and ALS; she then digs deeper into mitochondrial disease and how it impacts her. Along with Complex I, Liz has dysautonomia, which has led to insomnia, GI trouble and the inability to regulate her blood pressure, heart rate and body temperature. She acknowledges that her motor skills aren’t great, but she chooses to emphasize that she lives positively with her disease. “Let’s say I live alone and can put groceries away, do laundry and make dinner,” she stresses. “I can also go downstairs to pick-up my mail and packages and write and ‘poke around’ on the piano. She also keeps her eyes set on federal health policy and how she works towards change.
“My current legislative priorities include keeping the ACA/Obamacare, Medical Foods Equity Act and Access to Precision Medicine Act,” Liz said. “The Medical Foods Bill will make it harder for health insurance companies to deny large quantities of medically necessary ’medical foods’, aka dietary supplements and vitamins many patients in our community rely on. The Access to Precision Medicine legislation makes Medicaid/Medicare cover various genetic testing to assist providers in the diagnostic odyssey.” She also hopes that incoming members of the House and Senate will be open-minded when it comes to the needs of the mitochondrial disease community.
Liz, who has been a tremendous asset to UMDF, sees herself working in the field of political advocacy for a patient advocacy group. But, she knows that whether it’s her in-person house and senate meetings, phone calls or persuasive writing, she can’t ‘fix the world’. She knows the only way to begin to fix things for the patient community is to enact effective federal health policy. “Sometimes, federal advocacy feels like talking to a wall,” she said. It’s a wall Liz Kennerley is determined to climb or knock down in order to make an impact that will benefit all members of the mitochondrial disease community and the rare disease community at large.
A FAMILY JOURNEY
Devin Shuman, 28, grew up with the United Mitochondrial Disease Foundation. As a teenager, she attended her first symposium in Chicago in 2011, just a year after getting her diagnosis of mitochondrial disease. The annual meeting was the place where she met her ‘mito family’, a family she holds close to her heart. It was also the meeting where she learned to manage her journey with mitochondrial disease.
“The validation, the tips/tricks and the energy I got from being part of such a fun group of people is what kept me going day to day,” Devin remembered. “I met the most incredible people that are so different from me on paper, yet mito allows us to ‘click’ instantly with lifelong friendships.”
Devin’s journey with mitochondrial disease started as an infant in the neonatal intensive care unit (NICU). Despite being born full term, she was the size of a premature baby. In middle school, Devin lost the ability to swim, run long distances and play sports. In high school, her illness kept her home from classes for a large part of the school year.
During that time, her brother, Rees, was experiencing the symptoms of mitochondrial disease. Testing would reveal that Rees was affected and he became the first person in the family with an official diagnosis. Devin’s parents now believed that it was possible that she too had mitochondrial disease.
“I forever owe my brother my life as, without his diagnostic odyssey, I am pretty sure I never would have found a diagnosis or even known something was wrong,” Devin said.
Being diagnosed with mitochondrial disease as teenager gave a younger Devin a unique perspective on her journey and on her future career.
“I always say that being diagnosed with mito as a teenager meant that right when I was figuring out what it meant to be myself, I was figuring out what it meant to have mito,” she said.
As she moved into college, she knew that she wanted work in the medical field in order to help others; but, she also understood that attempting to go to medical school would be a struggle due to her mitochondrial disease. That is why Devin was drawn to genetic counseling.
“It all just clicked,” Devin remembered. “This was a career where I could spend all day, every day, helping families understand genetics.”
Throughout college, Devin remained highly active with the UMDF and the friends she met along the way. Currently, she serves as a Support Ambassador. In this role, she helps connect patients to the tools and resources that she knows will help them on their own personal journey with mitochondrial disease. It’s a role she says is truly special.
“Everyone puts so much love and passion into their work with the UMDF, and the UMDF means so much to all of us that we barely even notice the work that we do,” Devin said.
As a Support Ambassador, Devin loves to take part in virtual meetings, especially those with the teens and young adults. She says she gets a powerful and indescribable feeling when she knows her help and information benefitted somebody else.
Devin gets the same gratification from her role as a genetic counselor. Since 2018, Devin has worked for High Risk Pregnancy Center in Las Vegas, Nevada.
“Being a genetic counselor with a genetic condition means that I will always go the extra mile for my patients,” Devin said. Her illness helps her appreciate the navigation that patient families undertake when it comes to communication with medical providers, insurance authorizations and getting answers to questions.
“Having mito means that all the ‘small tasks’ don’t feel small to me. Having mito means that when I say ‘I get it’ to a patient, they sense that I actually do,” Devin said “Work gets to be therapeutic during those times when I’d give anything to fly to Kansas and hug my friend who is in the ICU. I get to be there for my patients when it feels like I can’t be there for my friends. I get to take what I learn from work and help other mito families”. It’s this information, insight and empathy that she uses as a Support Ambassador for the mitochondrial disease community.
Devin describes her journey with mitochondrial disease with one word – luck.
“I am lucky I had an older brother to lead the way. I am lucky that we connected with doctors so fast in that first year of diagnosis and that my blood work came back with easy to read, clear indications of mito,” Devin said. She is also grateful that she found the UMDF which allowed her to connect with others facing similar challenges. “Those bonds mean that my journey with mito isn’t so much a journey of illness but a journey of community and friendship.”
THE MITOCHONDRIAL MARATHON
Dani Kaslow’s world changed on April 1, 2020. It is the day she was struck by COVID-19. That first day, she wondered if her symptoms were related to her mitochondrial disease. “The next day, I woke up with a sore throat, pressure as if an animal was sitting on my chest, and the feeling that my thighs were going to snap,” she remembered. For the next 52 days, Dani suffered the symptoms we all read about including several days where breathing was a concern. Contracting the coronavirus during a pandemic is scary and concerning for a healthy person. Dani Kaslow has mitochondrial disease and, for her, it was very scary. “Anxiety has never been a real problem for me, but it certainly became one as I heard more stories of death and ventilators, even in healthy people” she said.
As an affected adult, Dani says her experience with COVID-19 was awful; but as a patient, she acknowledges that she had been through worse. “Somehow, I got the idea that if I could walk at least six minutes every day, I could keep the virus from settling in my lungs. That was also my secret test and my reassurance– if I could walk six minutes, I was going to be okay, at least that day,” she said. Walking is routine for Dani. She started walking for her health more than a decade ago. As a mitochondrial disease patient, she used a six minute walk test informally for years to make sure she was not overtraining or not getting sick. Now with COVID-19, she strictly followed all of the precautions as she began her walking test, but it wasn’t easy. “Once, I came home and sat in a chair trying to catch my breath and didn’t do anything, including turning on the TV, for four hours.”
Dani’s journey with mitochondrial disease has been a long one. As an infant, she didn’t walk or crawl on schedule. At age two, her pediatrician wrongly diagnosed her with cerebral palsy, a diagnosis that stayed with her until college. Through elementary school, she developed breathing issues that turned into frequent bouts of pneumonia. Despite her health issues, and with the encouragement of a high school guidance counselor, Dani joined her cross country team. In each event, she was last in the race. She also never quit. Neither did her health problems.
Over the course of her life, Dani suffered many additional symptoms. She’s battled migraines and joint pain. Her right eye began to droop, which caused her to think she was suffering a stroke. She had problems swallowing and developed esophagitis. Like many patients, she would have difficulty in speaking and thinking clearly, especially in the morning. Memory loss and frequent fainting troubled her and forced her to spend years in the offices of a variety of medical specialists. The only clinician to suggest that all of these symptoms might be connected was an endocrinologist. “He said he thought in several years, we would find out it was all a syndrome they hadn’t identified yet,” Dani remembered.
These challenges without a name caused Dani to think about adding exercise to her life. Dani created a new goal for herself. She heard about an 18 mile walk in Chicago and knew she want to participate. The walk had a great training plan lasting almost six months and included strength training twice a week. Dani followed the plan to the letter for six months. “As I did, I started to improve my health and started to learn when I needed to dial back and when I needed to push. I was still getting sick and think I was hospitalized once during that time; but overall, my health improved a lot,” she said.
Dani walked the full 18 miles. “I was one of the last to finish. I completed the task and was taken straight to the medical tent and left in an ambulance,” Dani said. “Even though I finished, it wasn’t a successful finish, and I didn’t feel like I met my goal. I did the event two more times. Once in Boston, where I had to drop out less than a mile from the end due to projectile vomiting. The final walk was in San Francisco, and I finished the 18 miles without major problems.”
Dani’s next goal was to participate in a half marathon from Detroit to Windsor, Ontario, Canada. She knew she would need to complete the 13.1 mile race in four hours. Knowing that would be tough, she thought if she could add a little running to her walk, she might finish in time. “That race became my new goal,” she said. “When I started to add running to walking, I was able to do about five seconds of running at a time. At first, I trained at an indoor track. I would run for five seconds, and walk to recover for 55 seconds. Gradually, I increased that running amount, but there was no way I could have started with more running.” It would also take eight months of training to reach this new goal.
On race day, Dani was ready. She queued into the corral and was soon walking towards the starting line. She worried about finishing on time. To finish after the four hour time frame would mean no support from spectators, no water, and streets that were closed for the race would reopen to traffic. She did well through mile marker eight and then started to slow down. Time passed. Four hours expired. As she predicted, she was participating alone as the crowds disappeared.
The rest of the race was so difficult alone. “I was so thirsty and glad to see a water stop. They were packing it up and weren’t going to give me any water. I begged and got a half cup, but that was the last one. They opened the streets at the same time, which slowed me down even more with traffic and stoplights to contend with,” she remembered. “When I finally got onto the track that was the finish line, I was in pain, exhausted, freezing, parched, and so excited,” Dani said. “As I slowly crossed the finish line, I thought of all the hard work and uncertainty and tried not to bawl for the finish line cameras. My boyfriend made the trip with me from Milwaukee and was also taking pictures. I could barely walk to get my medal and my pictures taken. In the first photo with my medal, all that shows on my face is pride.”
During a routine visit with her primary care physician two years after the half marathon, the topic of running was discussed. Dani told the doctor that she was running a mile in 18 minutes and 30 seconds. Her doctor, realizing Dani’s time was slow, suggested she see a sports medicine physician, who examined her and then sent her to a sports nutritionist. Dani was given a diet to follow that was high in protein. During a return visit to her sports medicine physician, Dani first heard the word ‘mitochondria’. “The doctor said, “We think you have something called mitochondrial myopathy, as well as dysautonomia and small fiber neuropathy.” Dani said she sat there, not really listening to the explanations of these new medical terms. “I was trying desperately to remember these unfamiliar phrases so I could look them up when I left,’ Dani remembered. “I did catch that there was only one doctor in the state I could see, and I should call him when I got home.” It took six months to get an appointment.
Dani continued her routine of running while she waited those six months to see the mitochondrial disease specialist. “My boyfriend came with me to the appointment. I wanted him there mostly to remember what was said but also for moral support,” Dani recalled. The doctor carefully reviewed her symptoms, injuries and the weird quirks that she experienced throughout her life. He asked lots of questions about a few of the items, especially her vomiting episodes from childhood, which he indicated was a telltale sign of mitochondrial disease. “So there it was. I had it; an answer,” she said. They discussed her exercise routine. Dani feared the doctor would say she had to stop running. She was surprised when the doctor said to keep her running and strength training going. In fact, she was to add interval training to the mix, along with a new ‘mito’ cocktail that was to be taken daily. After a short time following the doctor’s orders, she felt like a veil that she never even knew existed between her and the world had lifted. “I was near tears at the time. My fog had lifted.”
Dani first learned about the UMDF through an initial patient information packet provided to her by her neurologist, who provided her with an initial patient support package of information. She found a UMDF support group in her area and began attending meetings. “We compare experiences, share frustrations and learn from each other,” Dani said. “Aside from having mitochondrial disease, we are pretty diverse as a group, but I feel a close bond with the other members.”
Since her diagnosis, most things became much better. A couple of things have progressed since her diagnosis. She had ptosis repair surgery on both eyelids and brows a couple of years ago. “The other thing is that I am much slower than I was when I was diagnosed,” Dani said. I can still run, but only for a minute or so at the pace I used to run a 3.1 mile race in. I am enjoying walking again more. I walk every day and some days I also run. I am still not in the kind of shape I was in before COVID, but I am gradually improving.”
Dani continued to reach her goals and serve as an inspiration for other patients battling mitochondrial disease.
Dani isn’t planning on running in any more half marathons. However, she hasn’t given up. In fact, she brings her inspiration and energy to other patient families as a participant in UMDF’s Energy for Life St. Louis 5K Walk Run. Even though things changed in 2020 because of the COVID-19 outbreak, Dani still showed and participated outside. “With it being a virtual event, my boyfriend came with me, so I was not alone. He does not run, which is fine because his walk is the pace of my run. He took pictures, carried water for both of us, and kept me motivated through the race.” The annual event inspires her in her journey with mitochondrial disease and her own personal race to find better treatments and a cure.
THE 12TH MAN
David Brooks, 17, loves being amongst his peers and never lets mitochondrial disease get in the way. His mom, Lisa, remembers a time when David was younger. He would watch other boys play basketball hoping to be invited onto the court to play.
“He would frequently drive up in his power chair, but the kids usually didn’t understand,” she recalls. All of that would change for the Upper Arlington, OH, teen in 2020.
As an infant, David was diagnosed with spastic quadriplegia cerebral palsy. At age two, he started having seizures. His doctors were perplexed, because it didn’t seem like typical cerebral palsy. When he was five, after contracting a stomach bug and spending several days in the hospital with fatally low blood sugars and high carbon dioxide levels, the doctors mentioned he may have a metabolic disorder. At that point, Lisa and her husband, Chris, took David to a mitochondrial disease expert, who diagnosed David with Complex I and Complex III mitochondrial encephalomyopathy.
“David’s mitochondrial disorder currently affects his muscles, brain, speech, heart, GI tract, kidneys, and bladder,” Lisa said. “What his mitochondrial disease does not affect is his positive personality and loving, strong spirit.”
In 2016, the Brooks had to put life on hold while David had spinal fusion surgery to correct severe curvature in his spine.
“David’s back had become so rounded that his stomach was pushed up into his lungs, and breathing was becoming an issue,” Lisa said. Complications with the surgery caused tingling in his legs, and he was now at risk of losing all sensation and function from the waist down.
In February 2017, David had a second spinal fusion surgery to correct the pinching of his spinal cord. “The doctors did correct that but, unfortunately, made some critically poor decisions that resulted in a 90 degree curve in his spine; his chin stuck on his chest, and he developed a pressure sore on his back due to the large hump created by the fusion,” Lisa said. A third fusion surgery was now needed.
In September 2017, David underwent the last spinal fusion. There were complications and another surgery was required. A third surgery was successful, but left David unable to breathe on his own and unable to keep down food. David became very malnourished and was placed on TPN, a form of IV nutrition with a central line to the heart. He also developed additional complications from the spinal fusion surgery that caused an infection. This setback left David in a special bed for over a year. David can now breathe independently and no longer needs TPN, but he still struggles with pressure sores and almost daily dry heaving.
After returning to school last year, David’s desire to be involved in sports grew stronger. His cousin reached out to the principal and athletic director, who both encouraged David to join any high school team that he would like. David chose football.
“The coach invited us to be introduced to the team, and they gave David fist bumps as a greeting,” Lisa said. “Prior to their game against their biggest rival, we presented David’s story to the team. After hearing his story, they beat their rival for the first time in 12 years,” Lisa said. The team embraced David, and he became their good luck charm. “Before every game, the players began saying ‘hi’ to their buddy, David, in the hall, searching him out for good luck fist bumps before the game,” Lisa said. “David has never been so immersed in the school experience and embraced by the students.”
During the season, Lisa and David gave ‘pep talks’ to the football team on a weekly basis. The talks, entitled, ‘David Brooks’ Life Lesson’, addressed issues confronting people with disabilities, things the players have in common with those with disabilities, how preparing for a game is much like preparing for surgery, and how having a purpose gives you strength. They have created ‘Give Me Rocks’ t-shirts to raise awareness that people with disabilities want to be a part of sports teams. Lisa said that many of the boys believe David is the toughest kid in school.
“Even during COVID, the boys came by for window visits before their games. We text back and forth, and the boys say they are giving 110% for David at each and every Friday night game,” Lisa said.
Lisa said David also benefitted from being part of the team. “He gained more of a social connection and confidence. He really was embraced by the community,” she said. In fact, at the football banquet when the coach announced him, David received a standing ovation.
Currently, David is confined to bed again but faces his challenges with a bright, strong, positive spirit. “My hope for him would be that he heals and achieves physical comfort so he can enjoy life, friendships and adventures outside the home,” Lisa said. “I wouldn’t trade him for anything in the entire world!”
UMDF Awards 2020
Each year, the United Mitochondrial Disease Foundation recognizes and honors volunteers for their dedication and support of the UMDF mission.
Check out last year’s awardees and their video interviews.
The UMDF Energy Award recognizes a person who embodies the spirt of UMDF through the use of their time, talents, advocacy efforts, and fundraising. The 2020 recipient of the Energy Award is Ryan Eberly of Gordonville, PA. Ryan uses his talents to help UMDF with a number of technical and web related issues. Most recently, Ryan served as a tester for the new UMDF website, assisting us in making the decisions that enable the website to be more user-friendly.
Nathaniel Pakuris from North Kingstown, RI, was recognized with the 2020 Heartstrings Award. The award is presented to a child or teen who has donated or raised funds for the UMDF, or has ’tugged at the heartstrings’ through his or her generosity. Nathanial participated in a program at his school that matched students with special needs students. Nathaniel was matched with Michael LoPresti. Michael is a young mito warrior who attended school with Nathaniel. The two became friends. Nathaniel created a lemonade stand to raise funds for UMDF in honor of Michael. Thinking he would raise $25, Nathaniel’s lemonade stand raised ___. “I saw a chance to help somebody, and I took it,” Nathaniel said.
The LEAP Award was presented to the Holmes Family of South Bend, IN. LEAP stands for Living, Encouraging, Achieving & Persisting and is awarded to those living positively with mitochondrial disease in their community, highlighting the person’s accomplishments and volunteer service. Melody, Stephen and Natalie Holmes received the award for their advocacy work on both the state and national level. The Holmes family first became advocates for patient families in 2009 and have participated in multiple state and national advocacy events annually.
In 2020, Joy Krumdiack of Bellingham, WA, was awarded the Stanley A. Davis Leadership Award. Joy Served as the Co-chair of the Adult Advisory Council Team (AACT) and has helped countless patient families in her role as a Support Ambassador. She exemplifies the criteria of the UMDF’s most prestigious award, which was named after a former Chairman of the Board of Trustees who died in 2008. The award is presented to a person who mirrors Davis’ dedication and service to the UMDF.