Behind the Scenes at the Genetic Disease Foundation
Genetic Disease Foundation welcomes Scientific Advisory Board Members We understand that genetics plays a big role in the world or rare disease. We know that genetic testing assists physicians in determining concrete diagnoses. And in order to effectively treat an individual for their diagnosis, we must understand the genetic makeup of that particular disease [...]
USA Today Spotlights FDA Approval
Advocating for your children can and does make a difference! On March 6, USA Today published an article spotlighting a brave family with twin girls suffering a rare and fatal genetic disease. Niemann-Pick Type C disease, often called childhood Alzheimer’s disease, has brought the Hempel family through rigorous challenges and constant battles in an effort to keep [...]
PATIENT STORIES OF HOPE AND INSPIRATION – ‘Meet Mabel’
‘MEET MABEL!’ Our daughter, Mabel, is 18 months old. Mabel has all the symptoms of a syndrome or disease yet everything we find in her blood work is so ‘rare’ that we are left without a solid answer. Our hope is that research can catch up with Mabel’s symptoms faster than they progress. Sadly, it [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET KEAGAN!’ Our son Keagan was born healthy and happy at 37 weeks on November 21, 2006 at 5 lbs., 12 oz, 18 inches long. He was perfect and came home 24 hours later. He was completely different from his brother Sebastian and was sleeping a lot, gaining weight, and was doing really well. [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET ANDY!’ Hi, my name is Andy. I was born in Watford in the UK back in 1975. In 1994, I moved to Australia to attend University. This is also the same year my medical problems started with my first kidney stone a week before my nineteenth birthday. Since then, I have had [...]
PATIENT STORIES OF HOPE AND INSPIRATION
‘MEET VANESSA AND JACOB!’ Vanessa and Jacob both suffer from a very rare genetic disease. They are the first known cases of duplication chromosome 14q32.33. They both have low muscle tone, vision problems, weakened immune systems, asthma, OCD, ADHD, and heart defects. Vanessa has non alcoholic steatohepatitis, glaucoma, her right side is 2 inches shorter [...]
PATIENT STORIES OF HOPE AND INSPIRATION -’MEET ALEJANDRA!’
My name is Alejandra Islas. I’m a kindergarten teacher, living in Mexico City, Mexico. I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months. My symptoms started 13 years [...]
50/50 and Neurofibrosarcoma
50/50, a film starring Seth Rogen and Joseph Gordon-Levitt based on the true story of Will Reiser who is a survivor from a battle against a rare cancer of the spine. // The Children’s Tumor Foundation seeks to improve the health and well being of individuals and families affected by the neurofibromatoses (NF).
Counsyl Has Generously Donated Free Genetic Tests to Help Raise Awareness of SMA
August 28, 2011 By Bill Strong At the Gwendolyn Strong Foundation, we want as many people as possible to know that 1 in 40 people unknowingly carry a severe mutation in the SMA gene. Getting tested before pregnancy is one of the best ways to make sure that your child does not fall victim to a possibly [...]
Carrier Screening in the Era of Genomic Medicine
“It’s not so bad to find out that you are a carrier…[but] finding out that you are a carrier of SMA [spinal muscular atrophy] from your child dying is the wrong way to do it.” -Deborah Heine, executive director of the Claire Altman Heine Foundation Like many parents of children with rare genetic diseases, Deborah [...]