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 and coordination. Abnormal eye movements. Liver disease. Kidney Disease. Low Muscle tone. These things tell you about some of the symptoms of Joubert Syndrome. But […]

“It’s Not Just a Disease— It’s Genetics” Siblings Share Rare Disease, Diagnosed through Genome Sequencing

From left to right: Rick and Cristy Spooner with daughters Cali, 14, Ryann, 3, and Raelyn, 7 (Courtesy Mindy Land Photography / February 28, 2013).

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 genetic disorder, a diagnosis which they waited more than a decade for. All it took was reconnecting with a UC […]

Kaidyn, Who Has Joubert Syndrome, Took Extra Time Learning to Walk

Kaidyn has Joubert Syndrome, a rare genetic disorder that affects an area of the brain that controls coordination and balance.

My daughter was diagnosed on her first birthday with Joubert Syndrome; she still could not walk or crawl. I kept reading websites and posts only to find myself crying about what her future would be for her. After going to a genetics doctor, neurologist, ophthalmologist […]

I’ll Take that Award Thank You!

Award Winner, Super Mom, Kelly Seymour is our new guest blogger offering a fresh perspective on raising three children with special needs.

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 received an award for just that – being a Mom!  Honestly, I felt a little embarrassed because I thought, “What did […]

Despite Macka’s Challenges From Joubert Syndrome His Parents are Committed to Giving Him The Best Life Possible

Macka has hope in his genes for Joubert Syndrome

My son, Macka, has Joubert Syndrome, a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. He has irregular breathing and occasional apnea, which requires extra oxygen. He has a high palate and poor sucking due to his low muscle tone.  He also […]

Molor Tooth Sign in Twins’ Brain MRIs Leads To Rare Disease Called Joubert Syndrome

Twins Emmett and Emmerie are battling a rare brain condition 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 for in-vitro fertilization to try an egg-donor cycle by myself.  My father came with me for the “vacation.”  :-)  […]

Despite Major Challanges with Joubert Syndrome, My Son is a Gift to be Cherished

Brandon was born with Joubert Syndrome, a rare genetic disorder that affects the cerebellum

My name is Jill and my son Brandon was diagnosed with Joubert Syndrome at the six months of age. Joubert Syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. The disorder is characterized by […]