Breaking Barriers Clinical Trial Program

HOPE FOR THE HUNTER SYNDROME COMMUNITY A clinical trial program is now enrolling patients for its second cohort in a Phase 1/2a study in Hunter syndrome, a rare, hereditary, lysosomal storage disease. The clinical trial is called Breaking Barriers, and explores AGT-182, an investigational enzyme replacement therapy (ERT) that utilizes the body’s natural system for transporting products across the blood-brain barrier (BBB) by targeting the receptor that delivers insulin to all cells of the body, […]

Creating A Family History Tree

Much like Kathleen did, families have the ability to trace their family health history. The tree can include everything from information on heredity, diet, work, activities and environment. GENETIC ALLIANCE BY BY CLAIRE MENA Dr. Kathleen Mimnagh, MD was doing a pediatric genetics rotation in medical school when a geneticist noticed her hand as she inserted an IV. He asked her to do a maneuver that stretched her thumb across her palm. Kathleen’s thumb, unlike […]

Individuals With Disabilities In Russia

AMERICAN ACADEMY OF DEVELOPMENTAL MEDICINE & DENTISTRY BY H. BARRY WALDMAN DDS, MPH, PHD, STEVEN P. PERLMAN DDS, MSCD, DHL (HON) AND MATTHEW COOKE, DDS, MD, MPH “During the 1980 Olympic games in Moscow, a Western journalist inquired whether the Soviet Union would participate in the first Paralympic games, scheduled to take place in Great Britain later that year. The reply from a Soviet representative was swift, firm, and puzzling: “There are no invalids in […]

Increasing Adaptations For Individuals Who Struggle Emotionally And Socially

BY DR. JACKIE MARQUETTE My son Trent and I were on an outing shopping for his clothes. The store was loud and chaotic. Trent has autism and shopping wasn’t his favorite thing to do. He began to flap his hands and snap his fingers with an extremely tight facial expression. We knew what would happen next. He yelled out and. immediately following, he truly and earnestly expressed, “I’m sorry, I’m sorry.” While I understood he […]

Question: Does your Child Have a Disability?

AMERICAN ACADEMY OF DEVELOPMENTAL MEDICINE & DENTISTRY BY H. BARRY WALDMAN DDS, MPH, PHD, STEVEN P. PERLMAN DDS, MSCD, DHL (HON) AND MATTHEW COOKE, DDS, MD, MPH Under the Convention on the Rights of the Child (CRC) and the Convention on the Rights of Persons with Disabilities (CRPD), governments around the world have taken upon themselves the responsibility of ensuring that all children, irrespective of ability or disability, enjoy their rights without discrimination of any […]

Breathing Into Transition

GENETIC ALLIANCE • EMPLOYMENT & TRANSITION ANNUAL ISSUE • BY SARAH ROTH CAREGIVERS WHOSE KIDS ARE TRANSITIONING INTO ADULTHOOD EXPRESS HIGH LEVELS OF STRESS. ONE EFFECTIVE TOOL FOR REDUCING STRESS IS THE CULTIVATION OF A MINDFULNESS PRACTICE. Guiding your young adult from pediatric to adult care is no simple task. The healthcare system is fragmented and difficult to navigate. Care is enmeshed in the world beyond the clinic or hospital. And resources for ongoing social […]

Novel, Campus-Based Center Designed to Enhance Well-Being and Performance of Undergraduates with Disabilities

BY ROBERT W. BOHLANDER, PH.D., BCN AND EDWARD SCHICATANO, PH.D. Transitioning from high school to college is a daunting task for any emerging young adult. For a student with a disability, it can be more so. Although the undergraduate experience is often portrayed as not being “the real world,” and thus relatively “stress-free”, college life has many of the same or similar demands as the world off-campus, and can, in fact, be quite stressful. Several […]

Are “all men (and women) created equal?”

AMERICAN ACADEMY OF DEVELOPMENTAL MEDICINE & DENTISTRY BY H. BARRY WALDMAN DDS, MPH, PHD, STEVEN P. PERLMAN DDS, MSCD, DHL (HON) AND MATTHEW COOKE, DDS, MD, MPH Advances have been made in the United States and other countries, but we have a long way to go to reach any semblance of equality between individuals with disabilities and the general public. “…Abraham Lincoln asked his listeners why the Declaration of Independence asserted that ‘all men are […]

Prominent Physician Proposes A Can-Do Way To Reduce Health Care Costs – By Finding Cures

PART II of a SERIES INTERVIEW OF STEPHEN L. DEFELICE, M.D., BY JOSEPH M. VALENZANO JR. In Dr. DeFelice’s journey with carnitine, he faced every barrier in our medical discovery system. He believes the Doctornaut Act is the only practical remedy and route to achievable solutions. “My experience with carnitine and our Barrier System would require a thick book that no one would read,” he said. “A single tragic story concerning cancer clearly demonstrates this. […]

How The ACA Affects Children With Special Needs And Their Families

BY LAUREN AGORATUS, M.A. The Affordable Care Act (ACA) affects children with special needs and disabilities in many ways. This article provides an overview of some ACA-related topics relevant to children and youth with special health care needs (CYSHCN) and their families. It is based on a series of posts in the ACA blog published by the National Center for Family Professional Partnerships (NCFPP). The NCFPP is a project of Family Voices, operated through a […]