Romy’s Story

 

“I try to look at the positive, not the negative. What doesn’t kill you makes you stronger.”

-Romy

 

From her penthouse apartment overlooking Atlantic City, NJ, Romy sees a city as bustling and colorful as her vibrant, spunky personality. An extrovert with a sarcastic sense of humor and a tough-talking attitude, Romy’s life has consisted of one adventure after another. Born in Philadelphia, her family moved to Las Vegas where her mom started a show-business career. After college, Romy started in radio advertising, a job which allowed her to travel around the US and meet many celebrities. She laughs about her own small stints in show business, acting as an extra in a major feature film, “Revenge of the Nerds” and as a contestant on a dating game show on TV. As a young adult, Romy was living the life of her dreams. She married her husband, Robert, at the age of 24, and they had two daughters, Helen and Zoe. She traveled often as her career grew exponentially.

 

In 1999, her life took an unexpected twist. “I was at a big concert in Minneapolis and I felt something wrong in my back. It turned out I had two herniated discs. I was in a lot of pain, but I still worked the event. Those days, I was so busy I couldn’t pay attention to the pain.” Despite the pain, Romy worked for two years doing all the heavy lifting required for setup and breakdown of booths at various music venues and events throughout the country. When the pain became unbearable, she pursued surgery. The surgery alleviated Romy’s pain, but soon after, she began to experience strange symptoms. “My speech became slurred and I was off- balance. I went back to the surgeon and asked whether he thought something went wrong.

 

The surgeon was unconvinced that her symptoms were related to her surgery. He referred her to a neurologist. Romy planned her first visit to the neurologist with the same no-nonsense attitude she used to run her business. “I brought lists of my symptoms written down with bullet points on yellow sticky notes: my leg wasn’t working; stairs were hard; talking was difficult; I couldn’t bend over; my eyelids drooped.” The neurologist immediately diagnosed her with MS, but Romy was skeptical. A close friend of hers had recently died from MS and she knew such a diagnosis could not be confirmed without a blood test and other exams, so Romy kept searching for more answers.

 

Romy’s friends and family didn’t know what to make of her symptoms. She was self-conscience when out in public due to her staggering gait and slurred speech. The cops were called on her twice because others wrongfully accused her of

being drunk, once at a coffee shop and once as she was getting in her car. “Even my mom, who had known a lot of people in the entertainment industry struggling with addiction, thought I was on heroin. We’d go on a walk and I’d be three blocks behind her. She accused me of being a drug addict.”

 

Romy found a new neurologist at the University of Pennsylvania, a doctor referred by her mom who worked with charities for disabled children. The neurologist assessed her muscle function with an EMG test and ordered blood-work. Romy was diagnosed with Lambert-Eaton myasthenic syndrome (LEMS), a disease she had never heard of. “The doctor explained that my calcium channels weren’t working, which prevented communication between my nerves and muscles. He also told me that there was nothing he could do for me. There was no cure.” Devastated by this news, Romy summoned the strength of her family. Robert stepped in full- time: grocery shopping, cooking meals, and taking care of the children. “It was hard. I was absent from a lot of the girls’ events. I never went to Halloween parade parties at school because I was afraid of falling and calling attention to myself. It was even hard to go to parent- teacher conferences.”

 

Although her job was physically demanding, Romy was adamant about maintaining her radio business. It was exciting work and it fed her ambitious spirit. “Before the internet took over, in the 80s and 90s, radio was big. I sold to the top radio stations––R&B, hip hop, adult contemporary, and top 40. The concerts were around the country.” In order to keep working, without being able to walk or speak clearly, Romy had to think outside of the box. She needed to work at a pace she could sustain. “My motto was, ‘Go for comfort, not for speed.’” Robert joined her business and Romy’s mom stepped in to take care of the kids. “Robert did a lot of labor, checking out spots where we were going. I would send him in advance to check out the landscape.” Romy continued to do the strategic planning, working from home, and selling over the phone. Her attitude was and continues to be bold and resilient. “I try to look at the positive, not the negative. What doesn’t kill you makes you stronger.”

 

After 10 years of plowing through work and life with LEMS, Romy became increasingly exhausted. “I couldn’t walk for very long or carry anything. I took wheelchairs at airports.” One day, after speaking with a friend who was on disability for an autoimmune disorder, a question popped into her mind: Am I disabled? She took the question to her doctor. “’You’ve been disabled all this time,’ he told me. ‘LEMS is a disability.’” Romy was flabbergasted. I barely even believed it. I had no idea I qualified for disability.”

 

Romy’s doctor gave her a few numbers for clinical trials. She called up a doctor in Arizona and explained her diagnosis. Over the phone he said, “Are you ready for your life to change?” Romy spoke with him on a

Thursday and the next Monday she flew to Arizona.. The doctor in Arizona was amazed that she had not been referred to him earlier. As she left the office that first time, with confidence in her step, he called after her, “Go enjoy the rest of your life!”

 

Since finding hope in the clinical trial, Romy has been committed to reaching out to others with LEMS. She encourages them to ask their doctor about their options. “I met a woman who was in her twenties. She was in slow-mo. I saw her walking and leaning onto her mom for support. I saw myself in her.”

 

These days, Romy is soaking up what a slower-paced life has to offer. She sold the radio business and her husband manages investments they make from real estate properties. She enjoys sleeping in, traveling, and spending as much time as possible with her family on the beach. Connecting with other families touched by LEMS has piqued Romy’s interest in organizing creative fundraising events. Utilizing her connections to celebrities, she wants to get the word out about rare disease. “Let’s get some visibility for rare disease on the cover of Time magazine!” she says excitedly. “Let’s do a campaign. We can call it Revenge on Rare!”

 

Romy’s daughters have also taken their family’s experience with LEMS out into the world. Profoundly affected by watching their mother both suffer and persevere, they both chose careers in the medical field. Her eldest became a nurse and works in a psychiatric hospital. Her younger daughter is currently studying public health in order to push policy for researching rare and orphan diseases. Perhaps their biggest influence, however, was the wisdom they received watching their mother live her life with strength and positivity. Her younger daughter Zoe’s college admissions essay summed it up perfectly:

 

“My mother is living proof that it is possible to have a disability and still be a successful person and have a good quality of life. People associate disability with weakness, but in fact, my mother’s disability made her the strongest woman I know.”

Update: As of November 2018, amifampridine is the only evidence-based, FDA-approved treatment for adult patients with Lambert-Eaton Myasthenic Syndrome (LEMS).