Finding Amy - Spinocerebellar Ataxia took her from us

 This short video shows Amy's life in pictures...

Amy Bac was born May 18, 2001, at Eglin Air Force Base located in the panhandle of Florida. Her father was Chad Bac, a United States Air Force member - now retired. Her mother was Christy Gerrell (pronounced Jarrell) of Tallahassee, Florida.

 Early Life:

Amy was born healthy and on time at 40 weeks gestation. Within the first year of her life, Amy was diagnosed as an epileptic. Despite the seizures, Amy reached all of her milestones early - walking by the age of 10 months and talking in sentences by the age of fifteen months. One morning in November of 2002, at only one and a half years of age, after a prolonged seizure, Amy lost the ability to talk. More than a year and a half would pass before Amy regained her speech, and by then, the doctors had diagnosed her with autism. As the years passed, Amy became a very social and high-functioning little girl. She was learning to play the piano. She was on the swim team, soccer team, baseball team, and bowling team in the local area of Eglin Air Force Base where she lived. The seizures were well managed and controlled with medication, until July 2009.

Later Life:

Amy was 8 years old when the seizures became intractable, and another seizure medication was added on to the one that she was taking. Within months Amy's IQ dropped twenty-four points and she was lagging far behind in her education. In 2010, Amy was diagnosed with Lennox Gastaut Syndrome, a rare seizure syndrome.

In 2011, after routine genetic testing, there was a finding of a micro-duplication of chromosome 16p11.2 in Amy. She entered the research program in Houston, Texas that was studying this finding, and after a week with a top team of Doctors, Amy was diagnosed with a neurodegenerative disease that had nothing to do with this micro-duplication of 16p11.2. The findings were devastating to Amy's health, the MRI clearly showed atrophy of the cerebellum, a major part of the brain that controls coordination and houses 80 percent of the brain's neurons.

Amy continued to decline, the seizures taking a backseat to her loss of skills and abilities. With no genetic finding, desperate to know what was happening to their only child, Chad, and Christy would take Amy to top Doctors and research centers in the United States, including the National Institute of Health in Bethesda, Maryland. Amy had whole exome DNA testing, mitochondrial DNA testing, and later whole genome DNA testing with no genetic finding, despite the fact that her maternal grandmother had died young with a diagnosis similar to what Amy was experiencing, as well as many other family members on Amy's mother's side of the family having lost their battle with a diagnosis of either Multiple Sclerosis or a Parkinson's like disease.

 No Treatment:

 When Amy was almost fourteen years old, the MRI showed devastating changes including global brain volume loss and thinning of the brainstem. Despite these new findings and being wheelchair-bound, Amy remained happy and upbeat, her favorite past-time was watching My Little Pony and singing in church. Her parents kept seeking an answer as to what Amy's disease might be in the hopes of finding a treatment, or even a cure, but despite all of the testing, nothing was found, though her local Doctors felt certain that she had some form of a genetic ataxic disease, something not often seen in children. By the age of sixteen, Amy was bedbound and had lost the ability to walk, she was struggling to talk, and yet, she was still a happy child loving everyone she knew and met.

As Amy continued to decline in her unknown disease, her mother, Christy, began dealing with an intention tremor in her left hand. Within a year, Christy would be dealing with dystonia and have an ataxic gait much as her daughter, Amy had early on in the disease. Christy was no stranger to what was happening to her daughter, Christy had watched her own mother, Sara, decline slowly over the years, her mother Sara having been diagnosed with Multiple Sclerosis. Christy's identical twin sister had also been dealing with an ataxic gait and had fallen and broken several bones and often needed assistance with even the smallest daily chore. One of Amy's primary Doctors told Christy that as soon as they found out what was happening to Amy, they would have a diagnosis for her.

 Death:

The answer to Amy's decline, her grandmother, Sara's early death, and Amy's mother, Christy's declining health would come after Amy's death. On September 11th, 2018 Amy lost the ability to suck and swallow, she was 100 percent dependent on the g-tube. By October 9th, 2018 she couldn't move and was having multiple seizure types which all drugs failed to control, and she was oxygen dependent and unable to breathe on her own. Amy died on a Sunday evening - October 14th, 2018. Her parents saw that her autopsy was done at Beth Israel Hospital - Harvard University via BrainNet, https://www.autismbrainnet.org/memory/amy-bac/ which is dedicated to finding the cause of autism. The findings within Amy were severe loss of Purkinje cells within the cerebellum, the findings were what they'd see in a dominant form of Spinocerebellar Ataxia. Within five months of Amy's death, her mother, Christy was diagnosed with Spinocerebellar Ataxia.

 Amy's story can be found online on the BrainNet site. The disease that took her life is rarely seen in children. There is no treatment, nor is there a cure for this rare disease.