The Face of Charcot-Marie-Tooth Disease
BY DEBORAH A. PIERRO of I.D.E.A.L Magazine
In mid-October 2012, I had the opportunity to interview Bernadette Scarduzio (Bern). She is a lovely young woman who suffers from Charcot-Marie-Tooth (CMT), an inherited disease that can be passed from generation to generation. CMT is a degenerative disease that slowly causes deterioration of the nerves and muscles over time, and there is no cure. Bern’s father had been taking care of her, but he passed away from a massive heart attack on December 20, 2008. He also had CMT, as did his own father and most of his father’s nine brothers and sisters. Some of her father’s siblings also have CMT. Bern’s brother has CMT—though milder than Bern’s—but it is starting to progress now; he is in his late 30s. CMT is a disease that many people know nothing about because families have hidden its existence.
Bern is disabled. She is 33, single and living in Drexel Hill with her three puppies. Bern has the distinction of hearing from people from all over the world—people who have heard about her from a movie about her that has sold out three times at the New York City Film Festival. She and her partner Laura, who is also in the film, broke up over five months ago. Laura helped Bern so much and now being on her own is a whole new world for her. Bern was devastated from the breakup. Laura was also there when Bern’s father died from what might have been complications from CMT. Fortunately, Bern’s family and friends come over for dinner and to help her. Bern lives in a rancher, but she has to use a chair lift for the basement steps.
Bern is paralyzed from the knees down, but she can walk a little by wearing leg braces, using a walker, holding onto someone or by hugging the wall. She has been in and out of pool therapy for the last 10 years. She likes the buoyancy and she can walk in the water because it makes her feel so light. It makes her strong and it’s easier on her joints so she’s not as sore or in pain. It’s also good for her confidence. She does this in 92- to 95-degree water three to five days a week for an hour at the Springfield Healthplex. Bern says she can float a little bit on her own, but she also uses a swim float to hold onto. In the water, she can run in place for a good cardio workout, which helps with endurance. From the knees down, her legs are purple until after she gets into the water and then they are pink, which shows how helpful the water activity is for her circulation. Bern recently stopped driving, so family and friends help out when she needs a ride. She is looking into physical therapy care and healthcare at home. She has been getting resources through the Muscular Dystrophy Association, which has been helpful. Also, a nurse will be coming in soon, as well as physical and occupational therapists. Bern also goes to a chiropractor two or more times a week, where she gets a one-hour massage. The massage really helps with the pain and gets her through the colder days.
I asked her about her disability and how long she has had it. Bern said, “I have Charcot-Marie-Tooth, Type IA. There are many different types of CMT and every individual’s disability varies in severity. It is a neurological muscle and nerve disease affecting the entire body. It starts in the hands and feet. I was diagnosed when I was eight or nine. My parents hid it because of the possible stigma involved. I don’t remember my parents telling me about it until I was in high school. In high school, when I had to have a surgery, I agreed with people that I would get better knowing that I had something bigger than they would ever imagine. Later on, I would explain to people that my disease is like MS. I was hiding the fact that I had CMT.”
Day-to-Day Life. CMT is the most common hereditary neuropathy in the world. It is NOT a rare disease. Bern is trying to get research and funding for CMT and to get the information out there. At 22, Bern used leg braces. Thus far, she has had 24 or 25 surgeries on her hands, feet, ankles, hips—some successful and some not. She went into a chair several years ago, shortly after her father died. She can’t drive anymore and had to sell her car. Bern experiences muscle loss and tingling, sensory and motor dysfunction, numbness, poor circulation in her feet and hands, and arthritis.
Greatest Challenges. Bern says her greatest challenges are “things that most people don’t think about, like going to the bathroom, letting the dogs out, eating breakfast, putting on makeup, doing my hair, putting on shoes, getting dressed, taking a shower. I’ve fallen before, breaking ribs and hurting my ankles and knees.” Some days, Bern says she doesn’t get out of bed or eat because of this problem. Then she feels stuck inside, lonely and stressed, which makes the CMT worse.
Medical Care and Support. Bern says she doesn’t go to many doctors since there’s nothing more they can do. However, if she has to, she gets family or friends to take her. She says, “I get rides to doctors by friends and family, and my mom has helped me more now than ever since Laura left. I’m grateful to have her even though my dad’s not here to help her too. It hurts me to have to watch my mom take care of me…again.” When Bern did drive, she would take the walker or wheelchair and handle it herself. She says she could use a hand-controlled car, using her shoulder for the gas and the brakes, but it’s too expensive for her at this time. To have such a car is one of her goals, though.
An Independent Film: “Bernadette”. A film producer and her mother enabled her to go to Lourdes, France with a group of 12 in 2008, paid for by donations. The producer then created a documentary film about her. The filming began in November 2008—six weeks before her father passed away. Her friend was married to a filmmaker named Josh, who asked if he could document her life. Before Josh put the trailer for the film on YouTube, not many people knew about Bern’s journey with CMT. Afterwards, anyone could find her by doing a Google search. The 72-minute long documentary film was accepted by the 2012 New York City Independent Film Festival. It sold out in the first 24 hours and two additional showings sold out. The trailer for the film is on her website, www.bernslife.com.
Hobbies and Activities. Bern has three dogs and sets up dog dates with other people. She would like to volunteer for the local SPCA. And despite the CMT, she painted her house and likes to decorate. She likes to shop and be out and about, plus loves music and listening to live bands. She has an iPad and a laptop, using her knuckles to type. However, she loses function very quickly and has to rest to recover the little bit of strength she has left.
In her earlier life, Bern used to go horseback riding for therapy at Thorncroft Therapeutic Horseback Riding. She rode a horse named Neil, but the horse passed away. She can still ride, but doesn’t ride now. She says she would like to work with horses.
Bern also plays poker, which helps because it gives her the rush of being challenged. She has games at her house, played on the poker table in her basement. She also goes to casinos or to tournaments. In the future, Bern says she would like to try out for the World Series of Poker.
Other things Bern loves to do are read and write; she writes poems about how she’s feeling and about love, life, being sick and not taking things too seriously. She is a very spiritual person, believing in God and angels. Maybe that is because Bern was there when significant people in her life died. She had to get used to death at a very young age. She says she has a sixth sense about it and has always felt connected to that other world. Bern says she feels her aura and can easily pick up on other people’s feelings. People trust her enough to tell her personal things. Bern is Catholic, but she believes you can worship God in your own way. She meditates with tapes to help with her breathing and to relax. She has also spent time learning about other religions.
More about Bern. On top of everything else Bern has done in her life, she is also a certified personal trainer. She has worked in a few physical therapy facilities as a physical therapist aid and then went on to get her certificate as a personal trainer since she knew deep down that her body would not allow her to be able to care for the patient. She says, “So, despite my father’s wishes…I signed up at the National Personal Training Institute. He paid anyway but didn’t want me to get let down, I think. I went in 2001 and it was the best thing I ever did!! I haven’t trained anyone in years, but I do miss it and hope to eventually open a pool gym and train people in water. That’s a dream of mine—to open my own aqua and spa gym!”
Bern also worked for her dad as a receptionist at Cuz N Company Salon and Spa, a business her parents owned. She says, “From age 17 until my early 20’s, I worked off and on for my dad as needed, and he was my favorite boss! I also worked as a teacher’s aide for Family Support Services from age 18 until my mid- 20s. It was a great job for me because it was from 3:00 to 6:00 p.m., Monday through Friday. Being with those kids also helped mold me into the strong person I became.”
Advice from Bern. Bern’s advice to people is: “Take care of yourself as much as you can. Have faith that you’re meant to be here for a reason and you have your troubles and challenges for a reason. Embrace them. There’s always help out there. Everyone is given something that they have to overcome, whether it’s physical or emotional—be strong. Every day is different. Some days you feel great and other days you don’t have that much strength. Everything happens for a reason. Just believe.” Bern also says, “I have trouble with other people. When people come here to help, sometimes it feels like a burdento me, and when I want to care for them, they don’twant to accept it. Let us treat you, too. Let us give youa few bucks or take you out to lunch, too. It helps us helping other people as well.”
For more information on Bernadette or CMT, including the film, go to www.bernslife.com. Also, you can check out www.hnf-cure.org for which Bern has recently become the national spokesperson.
Ironically, I was asked this week by my Oncologist at Mayo if I would be willing to be genetically tested as they suspect I may have a mutation – no one else in generations of my family has ever had breast cancer but they have had other cancers. I noticed your Doc and watched it – so proud of you to step out there and put a face to CMT. I have been very lucky to have the benefit of good insurance and to live relatively near a Mayo Breast Cancer Center. My father has had MS for 40 years. His mental health is now deteriorating but he managed to keep his legs working until last year and that is a very painful and difficult process as you well know. Please know that I am sending you some of my extra energy to boost your beautiful spirit.
I also have CMT. I’ve watched Bernadette’s movie. It was very encouraging. Very inspiring. ♡ you Bernadette! You rock!
I would love to talk to Bernadette I also have CMT 1A. I have a lot of difficulties but I’m making it.
Email her at firstname.lastname@example.org
Many people, even doctors, are confused by hereditary neuropathies. I have a hereditary form of parsonage turner syndrome and when I was trying to explain it to my dentist he became agitated and accused me of making it up. He even charted that I was “Munchausen”. I have had genetic testing and EMGs.