Tag: "rare genetic disorders"
Making Music Instead of Noise: Ephraim’s Journey with Three Genetic Disorders
With three rare genetic disorders, including a duplication at chromosome 2q13 and mutations in the OCRL1 and CACNA1A genes, there is no manual on how to treat and care for Ephraim. In order for his medical care to be harmonious, it needs to be coordinated across all disciplines, or "make music instead of noise."
5 Things I Want You To Know About My Daughter with Treacher Collins
Shana has Treacher Collins, a condition where some of the bones & tissues in the face aren’t fully developed. Read what her dad wants you to know about her:
From Undiagnosed to Bohring-Opitz Syndrome: Finding Our Crew
It took Michelle 10 years to find a diagnosis for her daughter's ultra-rare condition, Bohring-Opitz Syndrome. Read why she's happy to find their "crew."
A Mother’s Wish for Kids Who Have Rare Disease
Kids with rare disease deserve respect and a supportive community. Read the wishes one mother has for all kids with a rare disease.
Running to Raise Awareness for Bartter Syndrome
Ian's support system -- his friends, family and even his doctor -- ran with him in a stroller during a marathon to raise awareness for Bartter syndrome.
Medical Edge: Butterfly children
A brief summary of and link to a Local12.com story about a Cincinnati Children's patient with epidermolysis, bullosa (EB).
One Family’s Journey With a Rare, Fatal Disease
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
New Deal With Pharmaceuticals Firm to Help Hospital Treat Rare Diseases
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
Mother Calls for Community Help to Fund a Cure for Rare Condition
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,
Boys’ Rare Disorder Prompts Mother’s Crusade
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