Haley was born with a rare genetic brain malformation called Joubert Syndrome (JS). Haley was diagnosed with JS when she was 13 months old. JS has a wide spectrum of effects including gross and fine motor delays, abnormal eye movement, low muscle tone, breathing abnormalities, cognitive impairment, and speech delays. She has been involved in multiple therapies for most of her life. Haley has made enormous progress over the past 5 years. She learned to walk when she was 3 and is able to do most things her typical peers do....in her own way. She continues to struggle with her speech and some gross motor tasks such as running, jumping, and climbing stairs.
Why we need your help
JS is estimated to affect only 1 in 100,000 people in the US. Because JS is so very rare, most physicians are unfamiliar with JS, it's treatment, monitoring, and prognosis. Also, families often feel isolated because they are unable to find or meet other families affected by JS. We know of only 2 other families in the entire state of NC affected by JS.
The Joubert Syndrome and Related Disorders Foundation holds a bi-annual conference where families gather to meet with doctors and experts on JS, attend workshops, and meet others families that are on the same JS journey. Haley was able to attend the 2009 conference in Cincinnati when she was 1 1/2 years old. We would like to meet with the physicians again this year, and show them the progress she has made since they last saw her.
Haley is 5 years old, and will probably start to become self aware of her condition soon. We would like Haley to meet other children with JS in hopes of helping her understand JS and how JS makes her a beautifully unique person.
What the funds will pay for
This year's conference will be held in Minneapolis, July 10th-13th. Your generous donations will help cover Haley's travel expenses and conference fees.