Tags » Rare Disease


In the rare disease community, so much is written about finding people who share your same condition. And while that is indeed valuable, one of the most impactful parts of my MedicineX experience last weekend was how similar experiences are across varying conditions. 257 more words

Sometimes Advocacy & Public Safety Lessons Come When Least Expected

I had toyed about not writing this, but I felt compelled to possibly do this to help someone who might be in my position one day & may not be as fortunate as I was to have friends help me sort this mess out… 1,731 more words

Blog Entries

I Gave LAM A Good Spanking Today

Today, it was cold & rainy. Normally, I’d stay in but made a conscious choice not to. I still decided that I needed to get out to the community center & get in my exercise. 640 more words

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Old School/Retro Is Sometimes The Answer

This is the last time I rag on Dr. Thomas Lowder, my exercise study investigator (who uses an old flip phone), for being “old school” or a “throwback”. 1,650 more words

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The War Ain't Over Yet...

Tonight wasn’t one of our better nights. And, as we drove home, and sorted through a few things, I offered Meghan this outlet.  I told her writing helps me sort out my thoughts and get refocused.   308 more words

Cowden's Syndrome

268/365 -Myasthenia gravis around the world

Facebook is a wonderful thing not least because of all the interesting content that gets shared by the people we choose to surround us in the virtual world. 238 more words


Marshall Syndrome

Marshall Syndrome belongs to a group of collagen disorders. This disorder is similar to Stickler Syndrome phenotypically, but has a different mutation.

In Marshall Syndrome, the affected has a varied appearance – wide-set eyes (hypertelorism), long philtrum (the groove in between your nose and upper lip), brachycepaly (head smaller/flatter than the normal size), thick lips, short stature, micrognathia (small jaws), cleft palate (not always), hearing loss, and a myriad of eye disorders like cataract, glaucoma, myopia, and sometimes even retinal dislocation and lens dislocation of the eye. 132 more words