For over 25 years, the United Mitochondrial Disease Foundation (UMDF) has worked to promote research and education for the diagnosis, treatment and cure of mitochondrial disorder while supporting affected individuals and families.
For parents and other family members of children with disabilities, nothing is more comforting than the voice and wisdom of someone who’s been there—someone who truly understands the ups and downs of living alongside someone with a rare disease or rare disorder. That’s why Theresa Bartolotta decided to offer a podcast.
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Jessica Duis, MD is more than a pediatric geneticist. She’s a partner and friend to children and adults who have Angelman, dup15q, and other related syndromes. Throughout her career, she has noticed a need for patients and their families to find community and support within the walls of the hospitals and clinics where they spend so much time.
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If you have been diagnosed with pemphigus vulgaris, here are some lifestyle management tips you can do that can help.
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I can recall the sunny, white-walled classroom, on the upper west side of New York City, where I first heard the medical term, “Failure to thrive.” I was a student, working towards a Master’s Degree in Nursing, reviewing diagnostic criteria of various gastrointestinal conditions…
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When what you see up ahead feels way too enormous and scary to manage by yourself, it can leave you feeling lonely and vulnerable. There can be a lot of trial and error involved before you finally find the one who finally hears you and tells you those words you long to hear…
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Learning that your child has a rare genetic disorder is a profound moment for any parent. But imagine finding out for the first time that you have the same disorder too. That was the scenario Becky Tilley faced the day she learned that she, her infant son, and her then-unborn baby all have Koolen-de Vries Syndrome.
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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…
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When it comes to finding answers about rare disease, nothing is more powerful than a parent’s determination and perseverance. That’s exactly how the Familial Dysautonomia (FD) Foundation came to be in 1951.
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Read a personal perspective of a mother raising both well and medically-complex young children. Learn about the impact a medically-complex sibling can have on the family dynamic, and access resources that may support the well child in exploring their emotions.
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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.
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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.
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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.
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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.
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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.
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Here are 4 tips to set up your smartphone so you’re prepared for a sudden trip to the ER.
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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.
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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.
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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.
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The Propionic Acidemia Foundation is a 501(c)3 non-profit organization dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
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