After adapting with her daughter’s disease for 13 years, Jen O’Connor as a rare diseases supporter, required the government to protect them. Her 18 years old daughter, Sydney, could not talk and walk during these years but now through a correct diagnosis and treatment, she enables to run and talk. Her mother’s attention caused the detection of this disease’s mystery which caused the diagnosis of 300 cases similar to her girl.
A New Medical Mistery
A 6-year-old girl named Kamiyah who every day experiences several spell where her entire body freezes up – her lungs, her muscles, everything.
With Kamiyah, we’re not necessarily looking for a diagnosis, as NIH ( National Inistitute of Health) has identified the gene mutation causing these spells. We’re trying to help Kamiyah and her family find more people with this condition, so they can learn about it and potentially find some relief.
The Artist Who Lived Life with Every Stroke
“I knew something was not right with my child. I could sense it from when he was very small,” explained Mauricio Saravia’s mother Marisa Damele.
Our son Oliver was struck down with Acute Necrotising Encephalopathy of Childhood (ANEC) this is a rare condition. On the 20th February 2016, Oliver was only three and a half years old. He was rushed into Accident and Emergency Department in Oxford because he had a seizure at home.
Rare Disease Day 2018 Ambassador
Sean Hepburn Ferrer, the eldest son of the late actress and humanitarian, Audrey Hepburn, is Rare Disease Day 2018 Ambassador. Sean Hepburn Ferrer was the previous Rare Disease Day Ambassador for 2014, 2015, 2016 and 2017. We are honoured that he is raising awareness for us on an international platform once again.Sean contributes to elevating the voice of rare disease patients to an international level and is a symbol for all patient organisations familiar with the struggle of making their voice heard.
You Know You’re An EB Mom
You Know You’re An EB Mom When… & What I Need You To Know
I know there are some out there who think they know what the life of an EB mom is like. Maybe you’re an EB (Epidermolysis Bullosa) mom yourself, and this is your truth, but to others, this may be a surprise, or even a revelation.
Here’s what my life it’s like from my prospective.
Lifetime Achievement Award Honoree
Dr. Robert M. Campbell, Jr. is Director of the Center for Thoracic Insufficiency Syndrome (CTIS) and an Attending Physician in the Division of Orthopaedic Surgery at Children’s Hospital of Philadelphia (CHOP). He is best known as the inventor of the Vertical Expandable Prosthetic Titanium Rib (VEPTR) device. Developed for the treatment of rare syndromes and disorders involving a malformed rib cage or missing ribs, this device was created by Dr. Campbell, then a pediatric orthopedist at CHRISTUS Santa Rosa Children’s Hospital in San Antonio, with the help of his colleague, Melvin Smith M.D. Drs. Campbell and Smith, directors of the Thoracic Institute at Santa Rosa, performed the first of many titanium rib implant surgeries in 1989. The device has been life-saving for many children.
The story of a boy who just opens his eyes by his mother’s voice
He lived normally and he didn’t have any problems till the age of 5. One day when he was playing in the yard in his grandmother’s house he fainted suddenly. His mother cuddled him and kept calling his name “ Mohammad” and that was the beginning of their new life.
Helping doesn’t depend on the number of help wanted
Children suffering from EB
Enter by a smile. This is the first thing you see on the door when you want to enter Eb community room. You have to put off your shoes when you want to get in, to reduce the risk of patients getting ill.