thought leadership
Unstoppable voices in rare disease
February 12, 2026
This Rare Disease Month, meet the patients and families living with rare diseases. Hear about the highs, lows, and their daily experiences, and learn what really matters in the fight for better diagnosis, treatment and care.
Tyler’s Story
Tyler is a 19-year-old undergraduate student studying biology. He was 7 when he broke his femur. Although not uncommon, the injury was not proportional to the activity that caused it. After several tests were performed, Tylor and his parents received the diagnosis: Fibrous dysplasia, McCune-Albright syndrome (FD/MAS) – a rare genetic disorder affecting bone and endocrine systems. There is no cure. Since then, Tyler has undergone several orthopedic surgeries and is receiving supportive care and symptomatic treatments to address multiple symptoms associated with FD/MAS, with pain being the most acute.
Tyler is a very charismatic, optimistic, and cheerful teenager. Although, he can’t engage in strenuous sports, he discovered a passion for swimming. He knows his latest surgery, which took place ~4 weeks ago, is not his last. He will receive life-long symptomatic and supportive care for bone and endocrine-associated symptoms.
Tyler’s advice for other patients is to remain optimistic and live in the day. He wants manufacturers to focus on what matters most to patients, incorporating patient voice into their R&D efforts. Finally, his ask of policymakers is to maintain and prioritize funding for the National Institute of Health – one of the leading agencies spearheading the research advancements critical for rare and ultra-rare diseases.
Kristina’s Story
Kristina’s daughter Grace is still waiting for a diagnosis. Grace has been labeled as having “global developmental delay” and is autistic. She has not met her peer’s developmental milestones, struggles with emotional control, has limited verbal abilities. However, as many families in the rare disease community can attest, Grace’s family is sure this general diagnosis is not the full story and there must be an underlying condition behind her symptoms.
Kristina shares her experience as a mother of a child without a diagnosis. She explains her harrowing fight for insurance coverage, the tens of thousands of dollars spent out of pocket, the hours spent organizing coordinating care for Grace, and the mammoth effort taken to continuously fight coverage denials. She has even resorted to pleading with doctors to give Grace ANY diagnosis just to get insurance coverage so Grace can get the treatment and care she needs and deserves.
Register for “Voices that move systems,” our Rare Disease Day webinar.
Join us on February 27 at 11 AM ET / 4 PM GMT for a cross-functional, cross-geography webinar, with actionable advice on accelerating diagnosis, improving outcomes, and ensuring patient and caregiver voices like Tyler’s, Kristina’s and Tara’s sit at the forefront of drug development and commercialization.