Tag "rare genetic disorders"

Since he was an infant, few things have brought 5-year-old Ephraim Lober more joy than music. He attended his first baby music class at just 6 weeks old and was totally enthralled. He quickly became the poster child for music therapy › Continue Reading

We adopted Shana from China when she was seven. She had lived in an orphanage for special needs children her whole life. It was pretty obvious that she had never learned to run and play. She did not laugh. They › Continue Reading

I’ve always known my daughter, Campbell, was one of a kind.  She had a full head of the most beautiful hair, big blue eyes, and a strong will from the moment she was born.  As soon as she entered the › Continue Reading

Today is “Rare Disease Day.” “’Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their › Continue Reading

Bartter syndrome entered my life swiftly through my son, Ian Wesolowski. Less than eight months ago he was fighting to stay alive. His potassium, sodium and chloride levels were all extremely low and no one could explain why. Ian was › Continue Reading

Cincinnati Children’s patient Brody Curtis has epidermolysis bullosa (EB), which makes his skin fragile like a butterfly’s wings. Brody’s mother, Heather Curtis, posted a video of Brody taking a bath to gain awareness for how difficult it is to live › Continue Reading

Layla and Angel Martin – sisters ages four and three – have infantile neuroaxonal dystrophy (INAD), an extremely rare disorder which affects the nervous system. There is no cure for INAD. Doctors at Cincinnati Children’s spent more than a year attempting to › Continue Reading

Cincinnati Children’s has negotiated a deal with pharmaceuticals firm Shire Plc to develop drugs to treat rare diseases. “We are very excited to partner with Shire in this capacity as we strive to change the outcome for children with rare › Continue Reading

Seventeen-month-old Christian James was born with congenital melanocytic nevi, a condition which covers part of James’ lower body with cysts and dark pigmentation. While he’s receiving chemotherapy at Cincinnati Children’s, his mother, Tanya Kennedy, is raising awareness and calling for › Continue Reading

When Cincinnati Children’s diagnosed Becky Kremer’s sons with ATRX, a rare genetic disorder, she became passionate about not only helping her own family deal with the medical and developmental effects of the disease but also advocating for other children with › Continue Reading

After her son, Liam, died at 20 months of age from the rare immunodeficiency disease called hemophagocytic lymphohistiocytosis (HLH), Michelle Slezak Schulze began Liam’s Lighthouse Foundation to support those diagnosed with the disease. When Liam reached four months of age, › Continue Reading