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Moving from Family Secrecy to Public Advocacy: Bernadette Scarduzio and Her Life with Charcot-Marie-Tooth

11/8/2017
 
A disease that was once a family secret has now become Bernadette Scarduzio’s greatest passion – Charcot-Marie-Tooth (CMT).  
 
In 1987, Bernadette was diagnosed with CMT. She was just 8 years old. Her older brother, John, was diagnosed with CMT at the same time.
 
“My brother and I had both been complaining of hip pain,” recalled Bernadette. “We went to an orthopedic doctor in Philadelphia. We both ended up being x-rayed and both received the Charcot-Marie-Tooth diagnosis.” 
 
CMT is a degenerative disease that slowly causes deterioration of the nerves and muscles over time. For CMT patients, weakness and numbness is generally more pronounced in the legs. CMT affects an estimated 1 in 2,500 people in the US and 2.6 million people worldwide, although experts believe the number could be much higher. Most often it is inherited.
Following their diagnosis, Bernadette and her brother received surgery to combat their hip dysplasia, a common symptom of CMT. The surgery was just one of many that would plague Bernadette’s childhood and adolescence.
 
“In total, I’ve had 28 operations on my legs, feet, hands, and hips … all due to CMT,” she said.
 
It is not surprising that Bernadette and her brother ended up with the disease. CMT runs in the Scarduzio family. Bernadette’s grandfather had CMT as did her father and some of his siblings, uncles, and cousins. While Bernadette’s father suffered from CMT, he kept the condition quiet during her youth.  
 
“My dad was diagnosed as a child. His father had it, but it was not talked about,” Bernadette noted. “My dad was able to walk. He had some surgeries, but he was able to live his life. He had a milder case. However, my grandpa died at a very young age. He was only 48.”
 
Bernadette said that once her grandfather passed away, CMT was “brushed under the rug.” She said her dad “lived his life and got married.” And while her parents knew CMT was hereditary, they decided to take their chances on having children.
 
“My mom said to my dad, ‘Well, your mom had four kids and you’re doing well.’ They figured there was a 50/50 chance of passing it on. Unfortunately, both my brother and I ended up having it,” Bernadette explained.   
 
And, growing up with CMT was not easy.
 
“Kids would definitely tease me and I had those moments of anger, sadness, feeling left out and not understanding why my body wasn’t working like everybody else’s,” she said.
 
People would ask Bernadette what was wrong with her, or why she walked the way she did, or what was wrong with her ankles. They would point out the difference between her vibrant personality and failing body. She wound up talking about her condition often. That might be why she’s become such an effective advocate today.
 
“Another big factor in my advocacy is that I’m told too often from others with CMT that ‘my family keeps it a secret.’ Just like my family did. What I’ve started saying is that ‘CMT is the most common disease you’ve never heard of’. It really is. It is the number one hereditary neuropathy in the world but people are not talking about it; they are ashamed of passing CMT on to their children.”
 
While there is a long family history of CMT in the Scarduzio family, Bernadette’s case is the worst. For instance, everyone in the Scarduzio family who has CMT is still walking – except Bernadette. She is the only one in a wheelchair.
 
Bernadette thanks her mother for the strength and support she has provided through it all.
 
“My mom was the only one in our home without CMT, yet all of our lives have been difficult because of the disease, including hers. My mom and dad were always there through all of my surgeries; she took such good care of me. She is a strong woman and I just want to acknowledge all of the people out there like her who are supporting their families and helping them get through the daily struggles that come with CMT.”  
 
Bernadette believes she has CMT for a purpose – to enhance awareness of the disease. She works for the Hereditary Neuropathy Foundation, a nonprofit agency dedicated to CMT and related neuropathies. Additionally, a documentary about her life was created in 2008, and, as a result, Bernadette has, in many ways, become the face and voice of CMT. In her time working as a CMT advocate, people from all over the world – other individuals living with CMT – have traveled to meet her. Bernadette also spends time with doctors and researchers to spread the word about her disease.
 
“This is why I’m sharing my life story. I’ve definitely made some waves. But, I want Charcot-Marie-Tooth to become a household name like MS, Alzheimer’s, and Parkinson’s. It’s only been about 8 or 9 years since I’ve been advocating, but it’s been a good ride.”
 
Bernadette’s main goal is to find a cure for CMT. She has seen too many family members suffer physically and emotionally as a result of the disease and some died young including her great uncles and a few of her dad’s cousins. Bernadette’s own father passed away shortly after filming ended for her documentary. 
 
“My dad used to say to me, I don’t think there’s going to be a cure in my lifetime, but I truly believe we’ll see a cure in yours,” Bernadette recalled. “When I was a kid, I remember doctors telling us they didn’t see a cure in the near future, but they saw one coming someday. So, I feel like there is a promise out there and there is hope. I’m just going to continue doing what I’m doing and hope for a cure.”
 
Bernadette is hopeful that people will donate to help all those living with CMT.   
 
“We have made some really big breakthroughs in clinical trials with a drug hopefully coming out next year for CMT type 1A. But there are over 100 types of CMT. Further research is necessary and we need funding.”
 
Bernadette continues to persevere amidst the challenges that face her every day.
 
“Creating awareness of CMT and finding a cure is my mission in life and I dedicate everything I am doing to my father. He is the one who showed me how to live with an illness and still be happy.”
 
Make a Donation
With your help, the AANEM Foundation can fund research that will improve Bernadette’s life and the lives of other patients with neuromuscular diseases. Together we can support researchers that are finding the treatments and cures for tomorrow. Help the next generation of researchers and donate today.
 
View the AANEM Foundation website for more information.


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Moving from Family Secrecy to Public Advocacy: Bernadette Scarduzio and Her Life with Charcot-Marie-Tooth





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