Safeguarding emotional well-being through rare disease journeys
The Foundation is a patient-led nonprofit organization dedicated to enhancing access to diagnosis, research, and care for individuals grappling with undiagnosed and ultra-rare diseases.
Mary Morlino, a patient navigator deeply involved in supporting undiagnosed and ultra-rare patients through UDNF’s patient navigation program, led this initiative alongside Cristol Barrett O’Loughlin, the founder and CEO of Angel Aid, a renowned provider of mental health and wellness services to rare families.
The session, that was held on March 21, at the 2024 Rare Disease Summit in Philadelphia, centered on the profound mental health challenges facing rare disease patients, their families, and caregivers, exacerbated by elevated stress levels and pervasive uncertainty.
Morlino and O’Loughlin provided insights into the array of mental health services and resources available, emphasizing specific support programs that can yield significant benefits.
Access to mental health
Additionally, they explored the types of support crucial for enabling patients’ access to mental health providers and resources, highlighting how such support can yield dividends for all stakeholders involved. The session also analyzed the intersectionality within the rare disease landscape, pinpointing strategies to ensure comprehensive support for all affected individuals.
“The summit serves as an invaluable platform for amplifying patient voices,” said Morlino.
“Drawing from my personal journey as a rare disease patient who remained undiagnosed for seven years, I intimately understand the myriad challenges confronting patients and their families. Mental health stands as a linchpin in sustaining the quality of life for undiagnosed and ultra-rare disease patients, driving it to the forefront of my priorities as a Patient Navigator within UDNF.”
Amy Gray, chief executive officer of UDNF, stressed the paramount importance of addressing mental health concerns within the rare disease community.
Patients’ emotional well-being
She said: “Their diagnostic journey is fraught with unparalleled challenges, underscoring the indispensability of safeguarding patients’ emotional well-being alongside pursuing solutions for their physical ailments.”
Established in 2023, the UDNF remains steadfast in its commitment to improving access to diagnosis, research, and care for individuals grappling with undiagnosed diseases.
For undiagnosed and ultra-rare diseases, the quest for a diagnosis can often be protracted and arduous, with patients enduring a litany of medical consultations, treatment delays, and emotional turmoil.
With more than 10,000 recognized rare diseases affecting approximately 1 in 10 individuals in the US, the UDNF offers a glimmer of hope by championing healthcare initiatives that embrace the unknown and actively pursue clinical and research-based solutions for patient well-being.
Grappling with unclear diagnosis
A report published in the Orphanet Journal of Rare Diseases, says that in the realm of medical care, centers dedicated to rare and undiagnosed diseases serve as vital contact points for patients grappling with unclear diagnoses. Over the past decade, these centers have emerged in various countries as part of a broader initiative to enhance the care provided to individuals afflicted by rare diseases.
It goes on to say that patients who seek assistance from these centers typically present with a constellation of complex and persistent somatic symptoms whose origins remain elusive. Recent studies have shed light on this unique patient population, offering valuable insights into their experiences and challenges.
Researchers conducted a monocentric study in Germany which revealed that a majority of patients arriving at these centers exhibited a range of nonspecific somatic symptoms, including general weakness, fatigue, and pain. Among the most prevalent diagnoses were soft tissue disorders, somatoform disorders, and polyneuropathies.
In a separate undiagnosed disease program based in the US, researchers discovered that a staggering 72% of patients exhibited at least one psychiatric symptom, with 24.3% already carrying a pre-existing psychiatric diagnosis. Also, individuals with psychiatric symptoms reported significantly lower levels of quality-of-life enjoyment and satisfaction compared to their counterparts without such symptoms.
The researchers wrote: “As the medical community continues to grapple with the complexities of rare and undiagnosed diseases, addressing the psychological well-being of affected individuals must become a paramount consideration in the provision of comprehensive care. Through continued research and collaborative efforts, these centers endeavor to not only uncover the mysteries surrounding rare diseases but also alleviate the burden borne by patients navigating the diagnostic odyssey.”
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