PKU and the Adventures of Luke and his Incredible Family
Luke was born February 12, 2007, the seventh of our beautiful children. At four days old we received a phone call that Luke’s new born screening was showing an inborn error. So we were sent to Johns Hopkins that same day where we learned Luke had PKU, or phenylketonuria. Being the 7th of our children, [...]
Zak’s Promise
“Opening Doors” For Prader-Willi Syndrome My wonderful son Zak was born with a rare genetic disease called Prader-Willi Syndrome (PWS). Although my wife and I may not have felt lucky at the time, we now know that we were blessed with good fortune when Zak was diagnosed as a newborn. Kids were mostly being diagnosed with [...]
Patient Stories of Hope and Inspiration – ‘Meet Riley!’
‘MEET RILEY!’ I have seen many things in the past four years since Riley’s diagnosis. Most of them have been while walking the road we are on. I have watched my daughter fight to overcome so much, beating the odds, SURVIVING, fighting back from setbacks and complications. She is my inspiration! Being on this journey [...]
Christian Billingsley: “Waiting for Medical Science to Catch Up”
On February 7, 2012, WWL-TV, the CBS affiliate in New Orleans, reported on Christian Billingsley, a 17-year old boy diagnosed with atypical hemolytic uremic syndrome (aHUS) at 3 months of age. Online Story Just Keep Him Alive Until Medical Science Catches Up (click on title/link above to see WWL-TV video) Doug Mouton / Northshore [...]
Patient Stories of Hope and Inspiration – ‘Meet Sydney!’
‘MEET SYDNEY!’ Life couldn’t have been more perfect. My husband and I had great jobs, we bought a house in the country and we had 2 healthy twins, a boy and a girl. Life was good. We moved to our house when the kids were 2 years old. A year later, life as we knew [...]
Patient Stories of Hope and Inspiration – ‘Meet Matthew!’
‘MEET MATTHEW!’ Imagine your child suddenly lost the use of one or more of their limbs for minutes, hours, even days. Imagine these episodes were often painful. Imagine this mysterious disorder essentially caused parts of the brain to “short circuit”, and affected your child’s ability to learn. Imagine these conditions were permanent, and as an [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET REMI!’ Meet Remi Savioz, a beautiful, curious, energetic 13-year-old girl with a spirit and smile that captivates everyone she encounters. When you first meet Remi, you will notice that she has speech difficulties and some physical challenges. You will also notice that she has a tremendous enthusiasm for life and making friends. What [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET JOSEPH!’ It was December 28, 2008 when we saw the lump in his throat. It was small, but very obvious. Someone finally took me seriously that something was seriously wrong and he was admitted to the hospital. On New Years Eve, Joseph went in for a biopsy. A few days later on January 5, 2009, [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET NATALIE!’ I am an adult in my 20′s with a rare disorder called Moebius Syndrome. I am the first in my generation to receive support from the many groups and foundations that exist today. Because of this support, I have been able to meet and share my story with others who share the same [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET RUARI!’ My five year old son Ruari has Digeorge Syndrome or 22Q deletion. He was diagnosed when he was approximately 2 weeks old following emergency open heart surgery. The first year wasn’t great, but he gradually got over some of his issues and grew stronger. He is facing more open heart surgery in 2012. [...]