24 Feb Our letter asking for help
To Whom It May Concern: 2-23-10
My name is Cristy Spooner and I need your help. I would first like to say THANK YOU in advance for reading our story and trying to help our family.
We have three daughters, Cali (11yrs) Rae (4yrs) and Ryann (10 months). Cali and Ryann both have damage to their cerebellum which we have learned is an extremely rare neurological disorder. Our doctors told us that they had never seen anything like Cali before. Fast forward 11 years later, we now have a 10 month old little girl, Ryann, who is unfortunately showing damage to her cerebellum as well. Our doctors now are telling us we could be the first family to name a disease. We are lost and need help finding answers to help our little girls.
Here is a brief history of our story:
Cali was four months when she began having seizure like body tremors. She was hospitalized for a few days at UCI during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed non-specific cerebellar abnormalities. A full workup of tests were unrevealing. When she was 13 months old she was seen at CHOC of Orange for a cerebellar biopsy. The biopsy showed increased blood vessels and thicker tissue which was not specific and no specific diagnosis was given. Two years later Cali was evaluated at the Mayo Clinic in Rochester Minnesota where another EEG and MRI study was obtained and still no specific diagnosis was given.
After years of trying to find an answer for Cali we decided to continue therapies, which include PT, OT, Speech, Horseback Riding therapy, Aquatic therapy, cranial sacral therapy and anything else we could try to help her. She is a bright and happy young girl. However, her developmental delay grows larger the older she gets. She cannot walk on her own or speakclearly. She in special education in the 6th grade. She has many problems with her gross motor skills. The older she gets the more frustrated she becomes.
We recently took Ryann in for her 9 month check up and our pediatrician recommended we see a neurologist because she was showing signs of seizure like movements (similar to Cali’s). She is also delayed in her gross motor and fine motor skills. She cannot sit on her own or crawl. She was hospitalized for a few days at CHOC Mission during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed nonspecific cerebellar abnormalities. A full workup of tests were unrevealing. Again no specific diagnosis.
My husband Rick and I feel helpless at this point. We are determined and motivated to find some answers to help our little angels, Cali and Ryann. We are struggling everyday to help Cali live her life to the fullest. It breaks our hearts that she cannot run and play or communicate with her peers. Now to think of the life ahead of Ryann is heartbreaking. We believe in our hearts, that there is someone somewhere that might be able to give us some answers. We are hoping and praying that someone has seen something similar to our two daughters’ cases. We would be so grateful for
any help you can offer us.
I have included the MRI images for Cali and Ryann. Please let me know if you would like me to send any medical records. I look forward to hearing from you. Thank you so so much!! We cant say thanks enough!
Rick and Cristy Spooner
Rancho Santa Margarita, CA 92688