More than 10,000 diseases are categorized as rare – impacting approximately 300 million people worldwide – yet only about 5% have available treatments – which often are limited, complex, and expensive.

Accredo, Evernorth's specialty pharmacy, plays a critical role in supporting patients with rare diseases, which are conditions affecting fewer than 200,000 Americans. This support is rooted within Accredo’s Rare Disease Therapeutic Resource Center, where dedicated pharmacists, nurses, dietitians, social workers and other professionals provide specialized care to patients living with some of the rarest conditions known today.

This Rare Disease Day, we are shining a spotlight on seven colleagues at The Cigna Group and their families who are living with or caring for individuals living with a rare disease. See below to learn more about their stories.

Taylor Witkowski, well-being coordinator, select and middle market health engagement, Cigna Healthcare

My husband was diagnosed with Aplastic Anemia in January 2019. His treatments worked for a little while, but after about two years, he needed a bone marrow transplant. During this time, he also received chemotherapy and was in the hospital for a month. As a caregiver and patient, it was difficult to navigate various doctor’s appointments, home health, insurance, working, and overall recovery. While it was a very challenging time, my husband is thriving, able to travel, and even attend games of his favorite sports teams (the Jacksonville Jaguars and Florida Panthers) and celebrating small things like grocery shopping and doing yard work. We are beyond thankful for the selflessness of his donor who gave him a chance to live a healthy and normal life. (Pictured left: Taylor Witkowski with Mark, her husband.) 

Nicole Carter, nurse case manager, complex case management, Cigna Healthcare

My daughter was diagnosed with a rare genetic condition called Hereditary Sensory Autonomic Neuropathy type IV (HSAN IV) at 8 months old, and she is one of only approximately 300 people in the world with this condition. With HSAN IV, you can’t feel pain or sweat, and are at greater risk for injuries, seizures, and more. Fortunately, we were able to receive her diagnosis early in age and use that to our benefit as best as possible to help her. She is a courageous 5-year-old preschooler now, who recently had orthopedic surgery on her leg. Her personality is larger than life and she always makes her presence known despite living life rare. Shortly after receiving my daughter’s diagnosis and meeting with a team of specialists at NYU Langone, I founded the HSAN IV Foundation. We are a non-profit organization that raises money to fund medical research for HSAN IV and spread awareness. Our goal is for gene therapy to be available to those affected by HSAN IV. 

Gloria Smith, account manager, national accounts, Cigna Healthcare

My son was born with severe acid reflux and developed failure to thrive. After years of advocating for him, we were referred to an endocrinologist and he was eventually diagnosed with Growth Hormone Disorder. While we were relieved to have an answer, the diagnosis presented a complete life change for him. Having to give nightly shots 365 days a year and fight his fear of needles was exhausting. As time passed, it became easier. Fast forward to today and for the first time in his life, he has been able to participate, and felt comfortable participating, in football and basketball. The physical and emotional benefits of treatment have been life changing. Having a healthy child that is full of energy is something that makes my mom heart full.

Dione Stauber, client account support analyst, Cigna Healthcare

In June 2024, my healthy, active mom was diagnosed with Mesothelioma. Only a few thousand cases are diagnosed in the United States each year. Caused by exposure to asbestos, it takes decades for the disease to manifest itself, so its victims are often caught off guard by the sudden onset of symptoms. We aren’t sure how my mom was exposed but it may have been due to second-hand exposure from her father’s or husband’s work clothes. Mom is in her final stages now and it’s been a difficult road. Due to her age, she was not a candidate for surgery and unfortunately, her tumor did not respond to chemotherapy. I’m fortunate to have a supportive family and good friends to help me through this difficult time. I find peace knowing that my mom brought so much love, laughter, and joy to my life and to all those around her. (Pictured right: Dione Stauber with Eileen, her mother.) 

Alison Graswick, program management advisor, product and operations enablement team, Evernorth Health Services

My daughter is 15 years old and has a rare genetic disorder called PURA Syndrome that affects neurodevelopment and causes low muscle tone, seizures, feeding difficulties, and other issues. At the time of her diagnosis in 2016, there were only 76 known cases worldwide and now there are over 700 diagnosed individuals worldwide. My daughter is a joy to be around. She functions at the level of a 12-month-old and has a great sense of humor and an infectious giggle. We have attended several conferences with other PURA families, and it is a great time to get information from others and just to be around others who know what we are going through. We do not know what the future holds, but we enjoy every minute we have with our daughter.

Ashley Love, pharmacy technician, Accredo

I have the rare blood clotting disease known as Lupus Anticoagulant, not to be confused with Lupus. Only between 2%-4% of the population have these antibodies in their blood. Most people don’t even realize they have it until some sort of event happens that causes a blood clot. Mine was diagnosed after I had three stillbirths and delivered a preemie daughter. This condition is managed with blood thinners and a hematologist. Rare Disease Day means a lot to me, and this diagnosis taught me to be more resilient, a huge advocate for my own health, and that life is so much more special than I could ever imagine.

Susan Bane, clinical appeals senior associate, provider operations, Evernorth Health Services

My 9-year-old granddaughter has Tay Sachs Disease. She was diagnosed two years ago, and at the time, we were devastated when we learned what it could mean for her. But, with the help of so many, we were able to get her to Boston Children’s Hospital, where an awesome team of physicians who only treat Tay Sachs were able to help us to better understand the disease and give us hope that we didn’t even know we could have. They monitor her closely and have now set up several local providers to assist in her development with the disease. So far, we are thankful that she is stable. We are hopeful and waiting for a trial drug that will slow the progression and even possibly stop its progression. It has not yet been approved by the FDA, but we pray constantly that it will be approved soon.

This article was created with the assistance of AI tools. It was reviewed, edited, and fact-checked by The Cigna Group’s editorial team and subject matter experts.