Xanadu I or Don't I? A Rare Disease Roller Skating OdysseyIn the earliest days of the COVID-19 pandemic, my partner Gwenn and her friends decided to order roller skates and take a spin together around a cul-de-sac. It felt fun...
Journey to Chronic Rare Disease TreatmentLiving with a rare disease is difficult. Getting access to treatment for rare diseases can be inaccessible for many. Many rare disease medications are expensive and subject to price gouging...
Living for the Moment: Doing the Unexpected With Pompe DiseaseIt was 2018, and I turned 50 years old in March. The following month, we lost our oldest son to a brain tumor. He was only 22 years old. It...
Xanadu I or Don't I? A Rare Disease Roller Skating OdysseyIn the earliest days of the COVID-19 pandemic, my partner Gwenn and her friends decided to order roller skates and take a spin together around a cul-de-sac. It felt fun...
Journey to Chronic Rare Disease TreatmentLiving with a rare disease is difficult. Getting access to treatment for rare diseases can be inaccessible for many. Many rare disease medications are expensive and subject to price gouging...
Living for the Moment: Doing the Unexpected With Pompe DiseaseIt was 2018, and I turned 50 years old in March. The following month, we lost our oldest son to a brain tumor. He was only 22 years old. It...
Xanadu I or Don't I? A Rare Disease Roller Skating OdysseyIn the earliest days of the COVID-19 pandemic, my partner Gwenn and her friends decided to order roller skates and take a spin together around a cul-de-sac. It felt fun...
Journey to Chronic Rare Disease TreatmentLiving with a rare disease is difficult. Getting access to treatment for rare diseases can be inaccessible for many. Many rare disease medications are expensive and subject to price gouging...
Living for the Moment: Doing the Unexpected With Pompe DiseaseIt was 2018, and I turned 50 years old in March. The following month, we lost our oldest son to a brain tumor. He was only 22 years old. It...
Parental Partnership: Supporting Families With a Child Affected by a Rare DiseaseWhen I became a mother at 26 years old and my husband a father at 27 years old, we learned that the future ahead of us would be characterized by...reactionscomments
Walking a Fine Line as a Squeaky Wheel: Communicating With DoctorsI once told someone about their healthcare, "You have to be the squeaky wheel." Later, a provider corrected me with the disclaimer that being a squeaky wheel can cause doctors...reactionscomments
Featured forum Dietary ChangesHi, I have been diagnosed with a rare genetic condition, AMACR deficiency, that so far is asymptomatic but I do have an elevated level of phytanic and pristanic acid in...reactions12replies
Featured story It's Just the Way You AreI just turned 60. I have been questioning many things, regarding my health, for as long as I can remember. I went to doctors, or was taken, and never really...reactions3comments