Ally's Story
On September 29th, 2020, Ally was diagnosed with a rare progressive neurodegenerative disease called Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS). Additional information about ARSACS can be found below.
When Ally was a baby, we noticed that she was not reaching many of the expected milestones of a child her age. She did not crawl but sit-scooted, and she did not walk until she was about 22 months old. Soon after we began our search for a diagnosis. Over the years she underwent nerve conduction studies, a muscle biopsy, MRIs, and genetic testing in the hopes of revealing the cause of her disability. From these studies, we learned that her cerebellum was smaller than normal, but a formal diagnosis was never reached. Our hope was that her condition was a congenital birth defect that would not worsen.
Despite her gross and fine motor skill challenges, Ally bravely moved forward through elementary, middle, high school and, recently, college. She has always excelled in academics. Yet tasks that so many of us take for granted, like walking, running, changing clothes or carrying a glass of water, have always been a challenge for Ally. Nonetheless, she meets her days with a positive attitude and a fantastic sense of humor.
After seeking out an evaluation from a world-renowned neurologist in Boston in the summer of 2020, Ally was ultimately diagnosed with ARSACS. This was confirmed through genetic testing. To date, there is no cure and no treatment.
The bottom line in all of this is that Ally needs the help of science to find a way to repair the damaged gene (the SACS gene) so that her cerebellum does not further deteriorate. There is extremely limited funding for rare disease research, and we must turn to family, friends, and caring fellow humans to help us raise this desperately needed capital.
Please consider helping in any way that you can. No donation is too small. All donations are tax deductible. Details about our fundraising efforts can be found on this site’s donation tab.
We can’t do this alone. Thank you for your support.
Love,
Chris, Betsy, Ally, Riley, Justin, and Gabby Trainor
What is ARSACS?
“Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a debilitating hereditary and progressive childhood neurological disorder.
Symptoms generally appear between the ages of 2 and 5 years old. Already at that age, the child’s motor skills are affected. The disorder progresses throughout adolescence and adulthood (stiffness in the legs, increasing difficulty in walking, reduced manual dexterity, lack of coordination of the arms, speech difficulties, finally, the use of a wheelchair).
Ataxia affects the spinal cord and the peripheral nerves. The name of the disorder refers to the Charlevoix and Saguenay regions because the disorder is more frequent in these regions. However anyone whose ancestors came from France and settled in the St. Laurence valley at the time of settlement of Québec in the XVII century can be a carrier of the mutated gene responsible for the ataxia. This disorder, discovered and described by Quebec scientists, is existent in all parts of the world and could be as prevalent as Friedreich’s ataxia. The ataxia gene can be passed through many generations without manifesting any symptoms.”
Resource: ARSACS.com
Is the progression the same for everyone with ARSACS?
No, there are large variations in the presentation and progression of ARSACS. There is no crystal ball to forecast the disease progression for each such individual. It is our hope that Ally has a slow variant of the disease so that science has time to catch up with solid treatment options and a potential cure.
Targeted Drug Research Effort At Massachusetts General Spring 2024
We are pleased to announce the following important ARSACS research update:
In early 2023, the FDA approved the first treatment medication to slow progression of Friedreich’s Ataxia using a drug called Skyclarys. Although this is a different disease than ARSACS, Friedreich’s falls within the same family of progressive neurodegenerative diseases. Dr. Jeremy Schmahmann (Ally’s diagnosing neurologist) and a team of his colleagues at Massachusetts General Hospital in Boston will be conducting tests on ARSACS mice with Skyclarys to determine if the drug could similarly stem disease progression in ARSACS patients. This critical research needs your support as the lab endeavors to set up this research protocol in the spring of 2024. Your tax-deductible donations will directly support this work and could potentially open the door to a first line treatment to slow the progression of ARSACS. Currently, there are no treatments available. Please consider supporting us! Thank you!
Note: The donation set up is the same as we used for UCSF’s research. If you click on the Donate Now button, it will bring you to a Massachusetts General donation site. Your funds will go directly to this effort, and you will receive a tax-deductible donation receipt. UCSF will continue its ARSACS research efforts at the Krogan Lab, but Action for Ally is temporarily changing our fundraising efforts aiming them toward the immediate need at Massachusetts General. Undoubtedly finding a cure for ARSACS will take place through collaboration, and we are excited to add this protocol to our bank of research.
How is the Krogan Lab going to help?
The Krogan Lab studies the fundamental biology of cells in healthy states and disease states. It then applies a wide range of technologies, from proteomics and genetics to targeted mechanistic and structural studies, to gain a better understanding of the biology of disorders, which is urgently needed to develop novel treatments.
Together with its many collaborators and partners across the world, the Krogan Lab is creating so-called ‘Cell Maps’ that uncover the protein complexes and networks that work together to ensure healthy cell physiology that are altered by disease mutations or infections. Ultimately, this allows the Lab to study how drugs or other treatments can overcome these changes caused by disease and restore a healthy state or alter disease progression. The Lab then applies this approach to many biological or biomedical problems, including infectious diseases such as HIV and COVID-19, Breast and Head and Neck cancers, as well as psychiatric and neurological disorders such as Autism and Alzheimer’s disease. The goal is to apply this disease-agnostic platform to ARSACS to identify the protein complexes perturbed by the disease and identify targets for therapeutic interventions.
Fundraising Merchandise and Events
As we move forward with our fundraising efforts, we plan to sell items such as t-shirts, hoodies, and pins to support ARSACS Research. We also will have community events to support these critical endeavors. Below you will find links and updates about these initiatives. All proceeds will go towards ARSACS research. Thank you for your support!