ANF News Express

AANEM Foundation News Express

Meet Kristin: Mother, Social Worker, and Charcot-Marie-Tooth Survivor

Kristin Gelzinis had a normal, active childhood. She always enjoyed being outdoors – skiing, running, rollerblading, and biking. By 18, she was working and going to school full-time, and by 21, she was nearly done with nursing school. It was at that time, however, that she started running into some medical problems. 

“My legs had gotten very weak and my balance was really off. The things I used to do were no longer an option. I could barely lift myself up,” Kristin said. “I was falling a lot and experiencing significant pain.”

By 23, Kristin says that her medical problems stopped her in her tracks and totally disabled her. 

“My bones had deteriorated so much that I could barely walk. I developed osteonecrosis (a bone disease that causes chronic pain and joint degeneration) in every joint and I was on high doses of prednisone to help my breathing. My muscles had atrophied so fast. The doctors were stumped and I was so very depressed. My life as I had known it was over,” Kristin recalled. 

Kristin explains that it took her a “few years and a few tears” to get an actual diagnosis.

“Once I finally stopped feeling sorry for myself, I took control and started demanding answers,” she said. 

“I saw a few different neurologists who ran testing, but it wasn’t until I had my son at age 31, that my neurologist finally figured out the diagnosis. I had Charcot-Marie-Tooth (CMT) Type 4C.” 

After learning of her disease, Kristin says a lot of thoughts ran through her mind.

“Part of me was relieved that I finally knew what was causing my problems and part of me was really scared for my future.” 

CMT is the most common inherited neuropathy. It affects the patient’s balance, lower legs, arms, and hands. Over time, patients develop bilateral foot drop and may become completely immobile. 

“CMT 4C is one of the rarer types of CMT, so it affects everyone differently. For me, it’s impacted my balance and coordination, and my muscles have atrophied. It’s hard to walk without the use of crutches and leg braces. I have difficulty swallowing and most importantly, it affects my breathing. Part of my diaphragm no longer works which means I need to be extra cautious around those who are sick. I’ve been hospitalized three times in the past year due to respiratory failure,” Kristin explained.  

Kristin said that prior to her diaphragm paralysis, she just had to see her neurologist once a year to keep up on symptoms and pain management.

“Now with the diaphragm paralysis, I’ve been seeing my pulmonary doctor every few months, a new neurologist, and a new thoracic surgeon. But, it’s hard to live like this. I mean, you wake up with a sniffle and wonder if that’s going to be the next thing that causes respiratory failure.”

Living with this disease causes a tremendous amount of frustration and fear for Kristin. 

“No matter how hard I try to get stronger and keep my body in good physical shape, I will always have CMT as an underlying issue that rips out everything that I have worked for. After this last hospitalization, I am coming back even weaker and more uncertain of my future. For the first time in a very long time, I am scared.” 

Kristin was advised to stop pursuing a career in nursing after receiving her CMT diagnosis. She took some time off to determine her next move and decided to go back to school to earn a master’s degree in Social Work along with her Social Work license. After that, she began working with children, families, and adults. However, once her son reached school age, and she began interviewing at various agencies, she was told her crutches were a liability. 

“I have decided to put work on the back burner, for now anyway. I want to continue focusing on raising my son and working on my health,” Kristin said.  

Kristin does spend time doing volunteer work – advocating for CMT patients and leading various support groups for individuals with the disease. Kristin’s greatest passion is CMT-Connect – holistic workshops with an educational and empowerment approach developed in collaboration with the Hereditary Neuropathy Foundation. She also runs a robust Facebook group called CMT Stand by Me for CMT patients and caregivers. Additionally, she goes to schools to promote empathy for kids with disabilities. 

Kristin says it’s extremely important that more research and studies are conducted on CMT. 

“While I’m here in my hospital bed, I cannot help but worry about my future. Will it be cut short somehow? Am I receiving the right treatments? I’m terrified. I don’t want to leave my family and I never want to leave my son. Right now, I feel my doctors are giving me their best guesses as to what they should do next and best guesses on my health are no longer good enough for me. I need more confidence and that will not happen until CMT research is properly funded.” 

Kristin strongly suggests that people give from the heart and donate to help those living with neuromuscular diseases because, as she says, “You never know whose life you can change by donating.” 

Despite feeling scared and frustrated by her disease, Kristin will continue to press on with as much strength as she can. 

“I will keep looking for answers. I will keep fighting for others. I will keep going forward until maybe one day we find something to help all of us.” 

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