Unstoppable voices in rare disease

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.

Tara’s Story

Tara’s daughter Caroline (“CC”) appeared normal through infancy, just a healthy, sweet, happy baby.  But around the time that babies should normally be pulling up, standing, and then taking their first steps, CC lagged behind.  Doctor after doctor told her she was just a late bloomer, she was still within the normal window of development, but mother’s intuition told her otherwise.  ​

Finally at age two and a half, the Caseys were told their daughter had metachromatic leukodystrophy (MLD), a progressive and fatal neurological disease. Tara, her husband Jimmy, and their older daughter Norah, along with their friends and family surrounded CC with love and tried to the best of their ability to give her as close to a normal life as possible.  Devastatingly, CC passed away in 2023 at age 10.  Until recently MLD was a death sentence, but a transformative gene therapy was approved by the FDA in March 2024. ​

Tara shares their experience of caring for a child with a debilitating rare disease. She explores the mixed emotions of the joy that MLD is no longer a death sentence and the pain of knowing that if Caroline had been screened at birth, or diagnosed at the first sign of symptoms, she may have gotten into the clinical trial that could have changed her life.