The world celebrated Rare Disease Day on Feb. 29. Rare Disease Day is a global initiative to raise awareness for over 6,000 rare diseases that affect an estimated 300 million people worldwide. This year’s message was: “Rare is many worldwide. Rare is strong every day. Rare is…
Living with Friedreich’s ataxia (FA) has taught me to appreciate the little things. I was reminded of this when I discovered a new symptom of my FA journey: bladder control and the urgent need to use the restroom when away from home. Public restrooms have become a significant need in…
I remember meeting my dear friend Mary for the first time. Mary also has Friedreich’s ataxia (FA) and is the mother of four beautiful children. Five years ago, I attended the annual Friedreich’s Ataxia Symposium hosted by the Children’s Hospital of Philadelphia. It was my first time attending the conference.
Did you know that one in 20 people will live with a rare disease at some point in their lifetime? Rare Disease Day, on Feb. 29, is a global initiative to help raise awareness of the more than 6,000 known rare diseases that affect an estimated 300 million…
I have a chip on my shoulder from living with a rare neuromuscular disease. I feel the need to be accepted and welcomed by today’s society, and I set high expectations for the people I meet. But I have come to realize that people with disabilities need to treat others…
Sometimes we need to take a break, to relax and breathe. Many stresses can affect young adults, including money, work deadlines, cost of living, and family issues, among others. When you add living with a chronic illness like Friedreich’s ataxia (FA), anxiety and worry can easily test you. The…
Have a case of the winter blues? Cold weather can make anyone want to hibernate under a warm blanket and never leave home. When living with Friedreich’s ataxia, nothing sounds more comforting than staying inside instead of having to leave and deal with self-doubt and insecurities. It doesn’t take cold…
Marriage is wonderful, but it comes with challenges. When one partner has Friedreich’s ataxia (FA), the challenges may be overwhelming. Now imagine the second partner also lives with a chronic illness. My husband, Justin, has Fabry disease. Like FA, Fabry is a rare genetic disorder. It results in a…
Many people aren’t aware of how sensitive people with Friedreich’s ataxia (FA) can be about using a mobility aid. I struggle with feeling like a “minority” in society by standing out and looking different, so when people throw out negative words and actions, I feel awful about…
Happy New Year! I hope all my readers had a great holiday with their loved ones and are ready for 2020. I had three main goals for 2019 regarding the progression of my Friedreich’s ataxia (FA): accept help when needed; know that my disease is in…
It’s the most wonderful time of the year! Isn’t that what everyone is singing and saying? Christmas music is playing wherever you go, houses are decorated with lights, and the aroma of wood fires fills the cold, winter air. It is also a time of gift-giving, marketing campaigns, parties, and…
Since my diagnosis with Friedreich’s ataxia (FA), I have learned something about myself. I realize that when making plans, I must consider my needs, including accessibility, and I try to help other people understand, too. When I arrange an outing with my family or friends, I easily become anxious and…
Every fall, I find myself being thankful for my family and friends and hoping that they are in good health. I am also grateful for the relationships I have with other Friedreich’s ataxia (FA) patients and their families. These individuals leave me full of gratitude, not only because they teach…
“It is time,” I thought to myself. A number of loved ones had presented the idea of transitioning from a rollator to a wheelchair out of concerns for my safety. But I believe it’s a decision that should be made by the patient. Recently, I came to terms with the…
Members of the Friedreich’s ataxia (FA) community are waking up each morning with extra grateful and hopeful hearts, thanks to the recent news of a successful clinical trial sponsored by Reata Pharmaceuticals. Ron Bartek, president of the Friedreich’s Ataxia Research Alliance (FARA), shared the groundbreaking results of…
I recently rediscovered my passion for baking. My hopes and dreams should not be put on hold because of Friedreich’s ataxia (FA). I should not be discouraged from doing what I love. I take satisfaction in knowing I can enjoy an experience like everyone else, even if I have to do…
My passion for the hospitality and tourism industry has shaped my bucket list. I love to travel and explore new cities. During high school, I traveled to Europe three times with my school musical groups. It was an honor to visit Italy, England, and Ireland. Since being diagnosed with Friedreich’s…
In a previous column, I wrote about rideATAXIA Philadelphia and the 12th Annual Friedreich’s Ataxia Symposium, hosted by the Children’s Hospital of Philadelphia. People with Friedrich’s ataxia (FA), members of their families, and caregivers can connect with one another and learn about potential treatments at these types…
October is my favorite month. I love the feeling of new beginnings that comes with the crisp fall air. And I’m excited about two major Friedreich’s ataxia (FA) events that take place this month: rideATAXIA Philadelphia and the annual Friedreich’s Ataxia Symposium hosted by the Children’s Hospital of…
I often revisit a memory from eight years ago when my family and I were in a patient room at Johns Hopkins Hospital. I had undergone multiple tests, and as we waited anxiously for the results, the neurologist stepped into the room. He confirmed my diagnosis of Friedreich’s ataxia (FA),…
Living with an invisible disability is not easy. Symptoms that cannot be seen are difficult for outsiders to understand. Friedreich’s ataxia (FA) entails neurological issues, heart conditions, fatigue, and chronic pain. Some patients may use mobility aids full time, part time, or not at all. Each person with…
I read an article recently in The Philadelphia Inquirer that affected me on a personal level and left an impression. It addresses the poor condition of sidewalks and curb ramps in Philadelphia, and the difficulty they pose to people with limited mobility. The article describes the city’s failure to…
My family and I organize an annual grassroots event called the 5K Mother’s Day Race for Christina. This May was our seventh year hosting the event to bring people together to raise awareness and funds for Friedreich’s ataxia research. Hosting an event like this one involves months of planning.
My husband, Justin, and I have an annual tradition. Every summer, we go to our second-favorite city, Baltimore. We have been making this trip to “Charm City” for four years. We fell in love with Baltimore and keep returning for many reasons. The city, located near the water, is beautiful,…
I celebrated my birthday Aug. 24. I wrote in my recent column about the importance of looking forward with a positive attitude despite my diagnosis of Friedreich’s ataxia (FA). Because my FA is progressing faster than my family or I had expected, I have learned to accept that I…
My birthday was last weekend. I was so excited when my best friend, Lizz, and her bridesmaids decided to host Lizz’s bachelorette party that weekend. What better way to celebrate my birthday? Her wedding is less than a month away, so this was a great precursor to the best day…
August is coming to an end. This is always my favorite time of year because my birthday rapidly approaches. To me, fall indicates a fresh start and signals new beginnings to look forward to. Tomorrow, Aug. 24, I will be turning 29 years old. It’s scary to think this is…
Friedreich’s ataxia (FA) patients face multiple symptoms that can help confirm a diagnosis. The five most common symptoms are difficulty walking, sensory changes (such as hearing loss, involuntary eye movements, vision impairment, and speech problems), scoliosis, diabetes, and heart failure. FA patients are affected differently by these…
There is nothing better than the feeling of the ocean air in my hair while I bask in the hot summer sun on a beautiful beach. I’ve just described my family’s happy place: Stone Harbor, New Jersey. We look forward to spending a weeklong vacation here every year. As a…
It is hard to believe that July has come and gone, and that the summer season is officially coming to an end. In addition, my birthday month, August, has fast approached. This year, I will turn 29 years old. As I mentioned in my column…
Summertime is all about enjoying the outdoors with warm weather on your skin. The season is full of barbecues, family picnics, festivals, and more, with the people you enjoy most. Everyone needs to take precautions when in the heat. But the symptoms of Friedreich’s ataxia (FA), combined with the heat,…
Since receiving my diagnosis of Friedreich’s ataxia (FA) back in 2011, I have attended two series of physical therapy sessions. I was an outpatient at the local University of Pennsylvania hospital branch in 2014 and 2017. Initially, when I went in 2014, I wanted to familiarize myself with…
As I mentioned in my previous column, my husband, Justin, and I like to complete our weekly chore of grocery shopping early in the morning. The two main reasons we started doing this are that we get a handicapped parking spot right in front of the building and we…
When a person lives with a chronic illness, such as Friedreich’s ataxia (FA), they will do anything to find shortcuts and ways to make life’s daily activities easier. Taking the shorter walk home or taking breaks between events, for instance, keeps them from feeling fatigued.
Last Sunday was Father’s Day. One dedicated day to honor each of our parents is not enough in my view. Parents are often role models who are always there for their children with unconditional love — this is particularly true of those who have a child with Friedreich’s ataxia (FA).
On June 9, 2019, history was made on live broadcast television for the disability community. Ali Stroker became the first wheelchair user to win a Tony Award, receiving the “best featured actress” accolade for her role as Ado Annie in the Broadway revival of the musical “Oklahoma!” For those…
Lately, I have experienced a worsening of one of my most daunting symptoms of Friedreich’s ataxia (FA). I have numbness and pain in my arms and legs, which causes restless legs at night. Unpleasant sensations in my legs create an irresistible urge to move them, making it difficult to sleep.
I am originally from Bucks County, Pennsylvania, about 25 miles outside of Philadelphia. This beautiful area combines countryside with villages and downtown charms. It is rich in history, art, and culture, with gourmet dining, breweries and wineries, and award-winning accommodations. When I describe the area to people, I classify it…
After months of planning and executing, my family’s grassroots event, the 7th Annual Mother’s Day 5K Race for Christina, took place last Sunday, May 12. Two months ago, I wrote the column, “How to Plan a Grassroots FA Event,” which includes our planning checklist. My family and I…
I remember feeling overjoyed and honored a year ago after I received a package in the mail. It was a small box containing beautiful gold-knot post earrings and a note that said, “Will you be my bridesmaid?” It was from one of my closest friends, Erica. Without a second thought,…
This past weekend, I stepped back in time and visited my alma mater, Johnson & Wales University. I made the trip to attend the Providence Alumni Reunion Weekend with my husband, Justin. The event was in Providence, Rhode Island, about five hours away from our home in Philadelphia.
Living in a major city like Philadelphia, my go-to mode of transportation is the subway or the bus. My husband, Justin, has a car he parks close to our apartment to have available when needed. But if I am on my own or need to get somewhere close, I…
When living with Friedreich’s ataxia, one learns to accept “what is” and to celebrate small victories. For example, I have recently discovered that cleaning and tidying up around my one-bedroom apartment in Philadelphia is a very rewarding victory. I express this because though it may seem like a…
I had my annual Friedreich’s ataxia checkup last week at Children’s Hospital of Philadelphia, which hosts a Friedreich’s Ataxia Center of Excellence for patients and their families. I’m very fortunate to have this facility and my doctor right in my “backyard” of the city that I call…
When my sister, brother, and I were younger, our parents would take us on trips to various museums. These memorable times included day trips to the art or science museums in our city of Philadelphia. On the weekend we would travel two hours to New York to see…
This past weekend was St. Patrick’s Day. Almost every bar, restaurant, and establishment had various specials going on all weekend since the holiday fell on a Sunday. The venue where my husband Justin and I got married, Washington Crossing Inn in Pennsylvania, hosts special events and also…
Daylight saving time happened last weekend, and the changing of the clocks heralded in longer days and warmer weather. I am eagerly anticipating the first day of spring on March 20, and the new season cannot arrive soon enough for me. Although my home city of…
Rare Disease Day was observed on Feb. 28. However, we don’t have to limit our advocacy to a single day. Every day is an opportunity to use our voices to raise awareness and educate those who may be unfamiliar with the rare disease and Friedreich’s ataxia communities.
People around the world observed Rare Disease Day on Thursday, which gives patients, caregivers, and advocates the opportunity to share their experiences and raise awareness of the more than 7,000 known rare diseases. Rare Disease Day is organized here in the U.S. by the National Organization for Rare Disorders…
In a given week, a full-time employee can work five days and 40 hours or more. With all of these hours, it can feel as though a workplace has become a second home. Pursuing a career that requires at least 40 hours a week can take a toll on…
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