If you’re like Lynn Nezin, you’re ready to battle for your child, especially if they have to suddenly go to the hospital for something either related or not related to their rare disease. Lynn’s son, Casey, was born with Glycogen Storage Disease Type 1A, also known as Von Gierke’s Disease. Here is what Lynn has learned…

Cuando se trata de encontrar respuestas sobre una enfermedad rara, nada es más poderoso que la determinación y la perseverancia de unos padres. Así fue precisamente como se creó la Fundación para la Disautonomía Familiar (FD) en 1951.

Lee el testimonio personal de una madre que cría a dos hijos pequeños: uno sin problemas de salud y otro con una situación médica compleja. Descubre cómo un hermano con una situación médica compleja puede influir en la dinámica familiar y accede a recursos que pueden ayudar al niño sin problemas de salud a explorar sus emociones.

Caring for a loved one with a rare disease can be emotionally and physically exhausting. And that’s certainly true for rare cancer caregivers. Read five pieces of advice from the leaders of TargetCancer Foundation, Jim Palma and Kristen Palma Poth.

Receiving a cancer diagnosis is one of the most difficult experiences anyone can face. But for rare cancer patients, there’s an additional layer of unknowns, because most doctors may not have much experience with their specific disease. Kristen Palma Poth and Jim Palma, president and executive director of TargetCancer Foundation, share their best advice for newly diagnosed rare cancer patients.

When Paul Poth received a rare cancer diagnosis at age 37, it kicked off a series of events that would change the course of treatment for countless other patients. Read on to learn why Paul started TargetCancer Foundation and what is the organization’s main mission.

How should parents of children experiencing meltdowns deal with clueless and judgmental onlookers? What are the best methods to alleviate motion sickness when your child might already be on a cocktail of drugs? Traveling Different answers these and many other questions parents may have when traveling with their children.

I can clearly remember the day we finally received his diagnosis. It was 2019, and my son was 14 years old. We had already been treating seizures and developmental delay for years. However, I was not prepared for the actual diagnosis.

Here are 4 tips to set up your smartphone so you’re prepared for a sudden trip to the ER.

This episode of the DNA Today podcast discusses how propionic and methylmalonic acidemia affect the body, the goal of HemoShear’s investigation therapy (HST5040) that is currently in development, mindfulness and coping with a diagnosis, and why the FDA tends to fast-track therapies that target orphan/rare diseases.

The immune system of the skin is sensitive to the environment. Sunlight and air temperature normally affect the skin, but, if you have Bullous Pemphigoid (BP), which is an autoimmune disease, getting sun or too much heat can lead to blistering.

Joshua Owens, MD, is a genetics resident at Cincinnati Children’s Hospital. Through his work, he encounters families seeking answers to the range of mysterious symptoms and diseases that have genetic origins. Read on to learn about the types of genetic testing that are available today, as well as the benefits and risks of testing.

La Fundación para la Acidemia Propiónica es una organización sin ánimo de lucro 501(c)3 dedicada a encontrar mejores tratamientos y una cura para la acidemia propiónica mediante la financiación de la investigación y el suministro de información y apoyo a las familias y a los profesionales sanitarios.

Un poema dedicado a los cuidadores excepcionales, de Laura Will

Las investigaciones revelan que las tasas de depresión y ansiedad son elevadas entre los padres y cuidadores de niños con necesidades asistenciales complejas. Esto no es ningún misterio. Veo muchos factores que contribuyen a ello: el duelo, el estrés crónico, la falta de sueño, la carga que supone el cuidado del niño, la posible pérdida del empleo para poder atenderlo, las dificultades económicas, el aislamiento social y los problemas en la relación de pareja. ¿Cuál de estos factores te resulta familiar?

Hello everyone. I am 35 years old and I have Propionic Acidemia (PA). Life with PA is not always easy. I was diagnosed late, which caused me to have a stroke at a very young age. After years of needing a wheelchair and walker, I made a somewhat normal recovery.

Anne-Marie McIntyre es coordinadora de investigación clínica y asistente de investigación en el Hospital Infantil de Cincinnati. Descubre más sobre su trayectoria académica y profesional, que la llevó a especializarse en enfermedades mitocondriales, y sobre su labor en el ámbito de la investigación.

Bullous pemphigoid (BP) is a rare skin condition that causes large, fluid-filled blisters. In reviewing evidence of food-related triggers, find out which foods may trigger BP.

This month Desmond will head to preschool and be held and cared for by his community, as is his right. For any parent who has been through an individual health plan or an individual education plan (IEP), you know it is no simple task. I would love to share what this has been like for me and my son.

As a community advocate for the Rare Advocacy Movement, Uni Neha has a passion for guiding others in their rare disease journey. We sat down with Uni to talk about her resiliency routine and to hear her advice to others who are looking for new resources to support their well-being.