The Friedreich’s Ataxia Research Alliance (FARA) and Livonia, Michigan-based law firm Foley, Baron, Metzger & Juip (FBMJ) have teamed up to sponsor a movie premiere event featuring the highly anticipated “Rogue One: A Star Wars Story.”
Proceeds will be designated to support research toward finding treatments and a cure for Friedreich’s ataxia (FA), a currently incurable neuromuscular disorder that affects approximately 1 in 50,000 people in the U.S., including FBMJ partner Randall A. Juip’s 10-year-old son Jake, who was diagnosed with FA in August.
This special charity event will take place Friday, Dec. 16, at the Emagine Novi Theatre at Twelve Mile Crossing at Fountain Walk, 44425 West 12 Mile Rd. in Novi, Michigan. Check-in begins at 6 p.m. and the program starts at 6:45 p.m. The movie event is now sold out, but donations to FARA on behalf of the Juip family and the “Rogue One: A Star Wars Story” Movie Fundraiser can still be made at the FARA website, here.
One hundred percent of funds raised at the movie premiere will go directly to FARA, an organization dedicated to scientific research leading to discovery of treatments and a cure for Friedreich’s ataxia by marshaling the resources and relationships needed, fundraising, promoting public awareness, and aligning scientists, patients, clinicians, government agencies, pharmaceutical companies, and other organizations dedicated to curing FA and related neuromuscular diseases.
Jake Juip lives in Grosse Pointe, Michigan, with his parents Randall and Maureen, younger sisters Claire, Ellie, and Caite, and younger brother Tommy. Remarkably articulate and eloquent for a 10-year-old, with a dry sense of humor, Jake explains FA and explains how he is coping with the disease so far in a 10-minute YouTube video here:
“I know that I need to stay positive and happy that the Friedriech’s ataxia hasn’t put me in a wheelchair yet,” Jake told the Oakland Press News. “I know I have the power of optimism on my side because the Friedreich’s Ataxia Research Alliance people are working day and night to find a cure for this stinking disease. My friends have been awesome because they have reassured me that they will still be nice to me even though I have Friedreich’s ataxia.”
According to the Friedreich’s Ataxia Research Alliance and the The National Ataxia Foundation, ataxia symptoms are progressive and often impact coordination, hearing, vision, and speech. The disease affects both genders and all ages, but most often strikes children and young adults.
People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected, and the disease may affect fingers, hands, arms, legs, body, speech, and eye movements.
Mutated genes that cause ataxia make abnormal proteins that affect nerve cells, particularly in the cerebellum, other parts of the brain, and the spinal cord. The FA gene mutation limits production of a protein called frataxin, which is important to the functioning of mitochondria, which generate most of the energy in our cells.
Frataxin is a protein that in humans is encoded by the FXN gene, helps move iron, and is involved with iron-sulfur cluster formations, necessary components of mitochondrial function and consequently energy production.
FA is an inherited or autosomal recessive single gene disorder caused by mutations in the FXN gene. Individuals with Friedreich’s ataxia have two mutated or abnormal copies of the FXN gene, and both biological parents must be carriers for a child to be affected.
Recessive disorders commonly begin manifesting symptoms in childhood, with most people presenting the onset of FA symptoms between the ages of 5 and 18. However, since genetic testing became available it has been determined that Friedreich’s ataxia can also have adult onset in some instances.
Eventually, affected nerve cells begin to function poorly and ultimately degenerate. As the disease progresses, muscles become less and less responsive to commands from the brain, causing coordination problems to become more pronounced, with balance typically affected first. Incoordination of hands, arms, and legs, and slurring of speech are other common symptoms. Walking becomes difficult and is characterized by a gait with feet placed further apart to compensate for poor balance. Impaired coordination of the arms and hands affect a person’s ability to perform tasks requiring fine motor control such as writing and eating. Slow eye movements can be seen in some form of ataxia. As it progresses, ataxia can affect speech and swallowing.
Mental capabilities of people with Friedreich’s ataxia are unaffected by the disease, but progressive loss of coordination and muscle strength leads to motor incapacitation and eventually necessitates use of a wheelchair full-time. Most young people diagnosed with FA will require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
For more information about the movie event, visit http://bit.ly/2fxKc45.
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