Meet Gianna, our adorable, affectionate, caring, 8 year old girl. Here is our story in a nutshell. We spent the majority of Gianna’s first three years of life in and out of many hospitals, sometimes for months at a time, searching to find out why our baby girl was so very sick. After all of our local hospitals were unable to diagnose her, we finally ended up in Boston hospital where she again underwent an unknown amount of tests (too many to count). After every possible test was done, the doctors told us that they did not know what was wrong, and there was nothing more they could do, except do one last test. It was this final, last straw that gave us our answer! She was finally diagnosed with a rare genetic disorder called Gillespie Syndrome, of which, there are only about 30 documented cases in the world. The main characteristics of this disorder that affect Gianna are ataxia and partial aniridia.
Ataxia (meaning weak muscle tone, problems with balance and movements.) She has delayed development of motor skills (walking). In addition, difficulty controlling the muscles of the mouth with difficulty with speech and eating. She gets all of her nourishment through a feeding tube.
Partial Aniridia: An eye abnormality (meaning that part of the iris is missing). This means that her eyes are very sensitive to bright light. Her eyes aren't able to close the light out and its always bright (like when you get your eyes dilated at the eye Dr.s office). This requires Gianna to always wear bifocals inside and prescription sunglasses when outside. The pupils are enlarged (dilated) and are fixed, which means they do not get smaller (constrict) in response to light.
With so few cases of Gillespie Syndrome, doctors will not commit to a prognosis. However, EVERYONE that knows Gianna (family, friends, therapists, etc) faithfully believe she will not be held back by her disability and will ambulate safely and independently with some support. Gianna is a very determined and stubborn little girl who wants to and will overcome this challenge.
She currently is able to move around in school in her manual wheelchair. At home she crawls or walks with her walker or with assistance from mom or dad. The house is not very conducive to a wheelchair. She is so eager to be more independent.
Like most girls her age she loves playing on her playground (climbing the ramp, going down the slides, swinging, etc) She also like going in the pool, horse back riding, riding her go-cart, going to the beach, camping, etc. She even was a cheerleader last year. But all of these activities require her to have physical assistance. She very much wants to be “a big girl” and do things on her own, Most things she will not be able to on her own, but she CAN walk on her own with some help. This is where we need help.
Our next step in Gianna's dream to walk is to provide her a service balance dog. These are specially trained dogs to help people with balance issues. They are extensively trained to provide stability which allows to more freely interact with the environment and people, therefor a better quality of life. Please help Gianna be the “Big Girl” she wants and deserves to be.
DonationsSee top donations
- Christine Florio
- Magda Henin
- James and Dina Abdalla
- SUE DEVOS
- Cindy Henin
Fundraising team: Team Gianna (4)
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