Patient Stories

9-Year-Old with Brain Iron Accumulation Requests Birthday Cards

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Meet Ali Najera. Ali is a 9-year-old girl who loves Disney princesses, seashells, and making new friends. But Ali is also suffering from a condition known as Neurodegeneration with Brain Iron Accumulation (NBIA). This rare, debilitating condition reduces much of her physical capabilities, and Ali […]

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 […]

Child with MLD Given New Hope by MLD Foundation, Angel View and Riverside County Housing Authority

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What a remarkable turnaround for Reyna Melgar and her 3-year-old son, Josué Candelario, who suffers from MLD, a rare degenerative neurological disease. A few months ago, she was in a dilapidated, fly-infested trailer with limited medical supplies and little help. Today, thanks to nonprofit groups […]

Boy with Recessive Dystrophic Epidermolysis Bullosa Gets Wish Come True

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Garrett Spaulding couldn’t hide his smile Friday morning. The moment he’d been planning for years was finally here. Spaulding, a 17-year-old boy from Gustine, was born with recessive dystrophic epidermolysis bullosa, or EB, a rare disease that causes blisters and tears on the skin, creating painful wounds. […]

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

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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 […]

Loaded for Bear — A Rare Disease Diagnosis

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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 […]

Mysterious Genetic Condition Complicates Life for Milo: Family Reaches Out

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Our beautiful son, Milo, was born in December 2010. He has had a complicated life since then, with six surgeries and undiagnosed global developmental delays. These have left him significantly behind his typically-developing peers. He cannot yet walk independently, does not yet communicate consistently with […]