A LITTLE ABOUT EMILY
Twenty-seven-year-old Emily has lived on her family homestead with her mother, Tracy, and older brother’s family for about a year. The fully accessible home had been built by her grandfather so he could care for his father who suffered from Parkinson’s. While Emily waits for a new home for her and Tracy to be built on her brother’s neighboring property, she gets to spend time with her almost eight and ten-year-old nieces.
A DAY IN THE LIFE
Emily among the cacti during recent trip to Arizona
Day-to-day, Emily likes to hang with family. During down time, she plays games on her phone, like Township, and is active on social media, like Facebook. Emily also goes to physical therapy once a week and does light upper body and core exercises.
Travel is important to Emily and her mom, Tracy. Two years ago, she really enjoyed San Francisco. Visiting Fisherman’s Wharf, taking a boat ride, watching the sea lions was such a treat. Recently, they visited Arizona for the first time, just to see the saguaro cacti.
Some of Emily’s favorite movie genres are epic romance movies like Titanic. She also enjoys watching crime documentaries and shows that focus on the criminals’ psychological profiles - shows like Criminal Minds.
Emily also travels to Los Angeles for appointments with Dr. Susan Perlman, a UCLA Medical neurologist and a primary investigator for Friedreich’s ataxia (FA) trials. For almost a year, Emily has been traveling four times year to Pennsylvania as part of a clinical trial for the treatment of FA’s effects on the heart and eyes. The drug seems to have slowed the progress of the effects of FA but has not shown any reversal so far.
FA’s Effects on the Body
As mentioned above, because of FA, Emily has heart and hearing issues; more specifically, she suffers from cardiomyopathy and mild ventricular hypertrophy for which she takes heart medications. Her hearing loss has been dramatically progressing along with her degrading eyesight since high school. Like many FA’ers, Emily also suffers from scoliosis. So far, she has not required surgery but she is right on the cusp of needing it with a curvature of the spine at 42 degrees.
Because FA is a disease that damages the nervous system, it can affect most other systems in the body. This year, on February 28, National Rare Disease Day, the FDA approved the first drug, Skyclarys, made to treat FA’s disease progression, specifically it’s effect on swallowing and speech, upper and lower limb coordination, and upright stability. Skyclarys received orphan drug, fast track, priority review and rare pediatric disease designations. Emily is looking forward to its availability in June.
A Friedreich’s Ataxia Research Alliance (FARA) AMBASSADOR
This past January, Emily began her duties as a FARA Ambassador. FARA Ambassadors are a united team of patient volunteers living with FA who are committed to supporting FARA in the search for treatments and a cure. When Emily was diagnosed at 6 ½, back then there wasn’t very much going on for FA. Emily applied to be an ambassador so she could be there for newly diagnosed and their families, provide support, share information and resources, and promote what FARA does. Some of her duties entail writing thank you letters to donors and the many people who organize fundraisers for FARA across the U.S.
ABOUT THE Cure FA Soirée
Emily and her mom, Tracy, have attended the last two in-person Soirées and are looking forward to attending this year’s on Saturday, June 10, 2023. They are also planning on attending the inaugural Research Reception Brunch which will provide FA families and medical providers with more information about the science behind FA, FA Treatment pipeline updates, commmunity education resources, and information about open clinical trials. Emily’s favorite part of the Soirées is meeting other FA families and wishes there were more events, like fundraisers, held in the central part of the U.S. throughout the year.
Inspired to keep moving
With a great support system comprised of family and a few friends from high school, Emily is inspired to keep moving. As mentioned above, Emily and her mom enjoy travelling and, furthermore, she loves meeting up with her long-time friends from the Make Promises Happen (MPH) Camp session for young adults with neuromuscular conditions. Some of Emily’s favorite activities at this five-day summer camp in Guthrie swimming, boating, fishing, ziplining, and dancing. She met some of her camp friends when she first attended when she was six years old.
Major Lesson learned from living with FA
“I can do anything that anybody else does, but sometimes differently.”
Favorite quote
Emily sports on her back a tattoo of a quote from one of her favorite childhood movies, the animated movie Mulan:
"The flower that blooms in adversity is the most rare and beautiful of all."