RARE DISEASE DAY

Melissa Kaplowitch, Ph.D. and Taylor Philcratz, MS: “The 2024 U.S. presidential election underscored significant challenges for individuals with intellectual and developmental disabilities (IDD), highlighting the critical role of resilience in mitigating potential adverse consequences.”

Rick Rader, MD, FAAIDD, FAADM, Editor-in-chief, Helen Journal: “One could argue that “one” is indeed a lonely number, especially when it relates to people not having a number two (or three or four) to share life, explore, expand and enrich themselves…It should be no surprise that “loneliness” is a factor in serious health problems. Research has demonstrated that it can lead to both short- and long-term negative side effects.”

Clem Schoenebeck: “It did not stalk or pursue me, nor was I hiding from it. Poetry came to me when I was most vulnerable. Moments after her birth, I saw my first grandchild cradled in my daughter's arms. Swaddled in a white wrap, pink cap on her head, Alexa was staring into her mother's eyes with such intensity that nothing would come between them.”

Lauren Fetten: “For Tim Williams, a man with an extensive family history of Alzheimer’s, enrolling in a clinical trial was unknown territory worth exploring. ApoE4, a genetic variation sometimes referred to as the “Alzheimer’s gene,” is one of the most influential genetic risk factors for developing Alzheimer’s disease.”

Craig Escudé, MD, FAAFP, FAADM: “The story of Helen Keller and her devoted teacher, Annie Sullivan, is one of perseverance, compassion, and the transformative power of education. In a modern echo of this legendary bond, Shoshanna Weinstock has been heralded as the “Annie Sullivan” of Yossi Samuels, a young man whose life was profoundly altered by her unwavering dedication and ingenuity.”

Louise Campbell: “I have been on an incredible adventure over the last 12 months – I finished High School, moved out of home and travelled interstate and overseas.  I am currently a first year Medical Student at Bond University in Queensland, Australia.  But this year hasn’t all been about packing suitcases, learning how to cook and decorating my new apartment.  I’ve also been on a voyage of growth and understanding, and Special Olympics has been a part of this.”

Lanie Etkind, Executive Director of Familial Dysautonomia (FD) Foundation, Inc.: “FD affects the autonomic and sensory nervous systems that are responsible for involuntary functions and occurs almost exclusively in people from Ashkenazi Jewish heritage. Symptoms present at birth include trouble swallowing, and inability to regulate blood pressure, heart rate, body temperature and breathing. Patients typically cannot produce tears and are insensitive to pain. They often experience severe autonomic crises, episodes of cyclical vomiting accompanied by extremely high blood pressure and increased heart rate, sweating and fever. “

As we at Helen and in Jewish Communities around the world celebrate Jewish Disability Awareness and Inclusion Month (JDAIM), we pause once again to contemplate our responsibilities to people—all people—with intellectual and/or developmental disabilities (IDD).

Steven Perlman, DDS, MScD, DHL (hon), PAOH President: “I met Dr. Cathy Makobe-Chiloane in March 2017 in Graz, Austria. As Global Clinical Director of Special Smiles for Special Olympics International, I led the world’s largest public health dental program for people with Intellectual Disabilities (ID), which organized approximately 300 events in over 100 countries. Twice a year, we held a Train the Trainer event for interdisciplinary health professionals who would lead discipline-specific programs in their respective countries. “

Dr. Rebecca Kronk: “On a December evening, in an obscure university classroom in Pittsburgh Pennsylvania, a bit of magic happened.  ACHIEVA sponsored a roundtable event advertised as an opportunity to discuss advancing inclusive healthcare with leading experts.  Dr. Rick Rader and Dr. Steve Perlman were in the city to receive the Sattler Humanitarian Award for a lifetime achievement in disability advocacy and health equity.”

Peris Bennett, Kayla Shields, Dr. Rebecca Weston: “The University of Maryland, Baltimore (UMB) recently established an inclusive collaboration with Special Olympics to enhance healthcare education. Through this partnership, Special Olympics Maryland Health Messengers (HMs) with Intellectual and Developmental Disabilities (IDD) are now employed as Standardized Patients (SPs) (or trained patients) at UMB, allowing healthcare students to gain valuable experience interacting with actual representatives of the populations they will serve.”

Ley Linder, MA, M. Ed, BCBA and Craig Escudé, MD, FAAFP, FAADM: “Debra is a 63-year-old woman with a mild intellectual disability who is an effective communicator, expressively and receptively. She lives with three other women of similar functioning ability…She has psychiatric diagnoses of depression, anxiety, and schizophrenia, for which she takes olanzapine, escitalopram, and divalproex sodium (plus benztropine for side effects of olanzapine).   

NORD: “Living with Uncertainty” is a session about mental health and resilience, moderated by Dr. Al Freedman, who was joined on stage by Col. Steven Coffee, Joanne Sperando and Dr. Maggie Kang. Many of us know all too well that the journey through life with a rare disease is often filled with uncertainty and can be isolating at times, much like Connie’s story was. This panel opened up about their feelings and shared about the mental health toll this can take on people living with rare diseases and their loved ones.