Tag: joubert syndrome

A total of 24 posts are filed under joubert syndrome
“I Still Have Hope,” Mother Describes The Moment She Learned Her Baby Had Joubert Syndrome
My son was diagnosed with Joubert syndrome half way through my pregnancy. My doctors informed us that  something odd appeared in the… Continue Reading
Desiree: Much More Than Joubert Syndrome
Desiree had Joubert Syndrome. Malformed brain stem. Extra fingers and/or toes. Rapid or decreased breathing. Cleft Palate. Lack of balance… Continue Reading
From left to right: Rick and Cristy Spooner with daughters Cali, 14, Ryann, 3, and Raelyn, 7 (Courtesy Mindy Land Photography / February 28, 2013).
“It’s Not Just a Disease— It’s Genetics” Siblings Share Rare Disease, Diagnosed through Genome Sequencing
Cristy and Rick Spooner of Rancho Santa Margarita finally learned two and a half weeks ago that two of their three daughters have a rare… Continue Reading
Kaidyn has Joubert Syndrome, a rare genetic disorder that affects an area of the brain that controls coordination and balance.
Kaidyn, Who Has Joubert Syndrome, Took Extra Time Learning to Walk
My daughter was diagnosed on her first birthday with Joubert Syndrome; she still could not walk or crawl. I kept reading websites and posts… Continue Reading
Award Winner, Super Mom, Kelly Seymour is our new guest blogger offering a fresh perspective on raising three children with special needs.
I’ll Take that Award Thank You!
I guess I can never say again that parenting is a thankless and under-appreciated job. At the first Rare Diseases Gala in September, I… Continue Reading
Macka has hope in his genes for Joubert Syndrome
Despite Macka’s Challenges From Joubert Syndrome His Parents are Committed to Giving Him The Best Life Possible
My son, Macka, has Joubert Syndrome, a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and… Continue Reading
Twins Emmett and Emmerie are battling a rare brain condition called Joubert Syndrome
Molor Tooth Sign in Twins’ Brain MRIs Leads To Rare Disease Called Joubert Syndrome
My name is Natalie, and after many years of infertility, I went through a divorce, my house got foreclosed, and I decided to go to Europe… Continue Reading

Follow us on Twitter