Proteus Syndrome No Match for Savannahian Patient

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Seriously, sometimes he says his face hurts from smiling so much. According to Savannahian Daniel DeLoach, 27, “there are always people out there in much worse situations.” Here’s his: 105 surgeries — so far — including two spinal cord surgeries, three body casts, two near-death […]

Rhode Island Adds Immune Deficiency to Newborn Screening Test


Rhode Island has expanded its program of infant screening to include a rare immune deficiency. The state Health Department said all newborns will be screened for severe combined immunodeficiency, or SCID, beginning Friday. The disease causes dangerously low levels of the white blood cells that […]

Celebrate SMA Awareness Month by wearing NEVER GIVE UP by the Gwendolyn Strong Foundation

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Who knew hope could be so fashionable? Obviously the parents of Gwendolyn Strong did. That’s why they began their NEVER GIVE UP brand, which seeks to create a positive, motivational line that anyone could relate to, regardless of their circumstances. “It’s a conversation starter,” says […]

Dogs Change Everything: Ellen Faces Ehlers Danlos and Sarcoidosis with Maggie by Her Side


My name is Ellen Lenox Smith, a sixty-four year old from Rhode Island, living with two incurable conditions – Ehlers Danlos and Sarcoidosis. I have lost my career of teaching, can no longer continue as a master swimmer, nor continue coaching the high school swim […]

US Congress Hears About NGLY1


On Tuesday, July 22, 2014, at 3:00 p.m. in 2322 Rayburn House Office Building, the Subcommittee on Health held a hearing entitled “21st Century Cures: Examining Barriers to Ongoing Evidence Development and Communication.” This hearing focused on issues surrounding continued evidence development and communication of […]

Loaded for Bear — A Rare Disease Diagnosis


About a year and a half ago we realized that (our now 11 year old daughter) Maya’s “differences” were not normal. When I held Maya’s and her brother’s hands on the way to class, it seemed weird that Maya always seemed to tug and pull […]

An Indian Boy With Rare Composite Odontoma 260 Teeth Just Got 232 of Them Pulled Out


Doctors said the operation was “really fun” A boy in India endured a six-hour operation Monday to remove 232 teeth that grew as a result of a rare medical condition. Now, Ashik Gavai, 17, has 28 teeth left—four fewer than most adult mouths. 17-year-old Gavai had […]