From prenatal uncertainty and postpartum anxiety to therapy, grief, and hope, a mother shares her experience raising a child with a rare disease, navigating the healthcare system, finding community, and learning to embrace a different—but deeply meaningful—path as a parent.

A Danon disease study, led by researcher Dr. Barry Greenberg and published in the New England Journal of Medicine, wins an award! The study focuses on gene therapy as a potential treatment option for Danon disease. The study showed early signs that gene therapy may help the hearts of people with Danon disease.

A poster, presented at the European Hematology Association meeting in June, described a study that looked at tiredness (fatigue) in adults with immune thrombocytopenia (ITP). Researchers wanted to see if fatigue was related to bleeding or other health test results.

Lucky Shanmugan was recently featured in Porter Ranch Living, his local magazine, for Father’s Day: in his interview, Lucky talks about Osteogenesis Imperfecta, a rare genetic or heritable disorder of the connective tissue, and the incredible journey towards his official diagnosis.

Here are 9 things Chris Anselmo wishes someone had told him after his rare disease diagnosis.

A family’s hardships and resilience in finding answers and getting a diagnosis for their child, after numerous tests, brain biopsies, and hospitalizations. And the relief but also grief in finally putting a name to the rare disease that affects their child: BCL11B-related disorder.

The Danon Foundation boldly empowers people living with Danon disease, providing trusted information, resources and support to help navigate life, from diagnosis to treatment.

For many families, caregiving for a child with a rare or medically complex condition is a full-time job. The problem is, it’s a job with no training, no time off, and no clear job description. If you’re looking for the light at the end of the tunnel, you don’t have to search alone. Check out some of Paige’s favorite resources. 

For most of celiacs, despite months on a strict GF diet, energy stays low and blood work reveals nutrient deficiencies. The lesson? A "gluten-free" label isn't a health guarantee—just a guarantee you'll pay more.

If you’ve been told you have seronegative NMOSD, there’s nearly 50/50 chance you have a different antibody causing your symptoms –MOG antibody.

Therapy Near Me is a nationwide mental health service based in Australia, providing easy access to psychologists, counsellors, behaviour support practitioners and social workers.

At the annual Kidney Week of the American Society of Nephrologists (ASN), the world’s largest kidney healthcare professional organization, new advances in research were highlighted. Over $35 million has been invested in research with the ASN, and there are many treatments in development for IgA Nephropathy (IgAN), with researchers actively investigating more than 20 different drugs.

When I was diagnosed with celiac disease, I thought avoiding bread and pasta would be enough. I quickly learned that living truly gluten-free is far more complex, and I'm sharing my experience to help newly diagnosed individuals understand what lies ahead.

Retinopathy is an eye problem that many people with Danon disease have. It can cause dark spots in the outer part of the eye, blurry or worse vision, and unusual test results on an eye exam. Sometimes these eye changes show up before heart problems, so an eye check can help find the disease early.

A heartfelt story about a mother who found purpose and strength among the tragedy of losing a child diagnosed with an ultra rare genetic disorder.

Kaya Girl Legacy, Inc. is a Florida-based nonprofit founded in memory of Kaya Humbert, a beautiful baby girl born with Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS), one of 46 known cases worldwide. The foundation is dedicated to empowering families with knowledge about their genetic health and advocating for early access to genetic testing and rare disease awareness.

A prose poem by Jim Kuhn, a rare warrior living with Sarcoidosis, a rare inflammatory disease.

Rare Mom Laura shares how her family’s prep for Halloween turned into a burst of familial love and creativity, as they all worked together in designing and building a costume for Alden, her medically complex son.