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
Tags » Rare Disease
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
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