Scleroderma and My Journey to Legislative Advocacy

My Story

My name Evamarie Cole and I would like to share my story with you. I had eight miscarriages prior to my miracle baby boy being born. While in vitro, I was told my son would be born with clubfoot. Immediately, I started researching the internet on a condition I never heard of. I was taken back and in constant worry. How bad would his foot/leg be? Will he have to have it amputated? I so wanted a child and the stress of my unborn child’s diagnosis was affecting my health. The ob/gyn advised me to stop researching, enjoy the pregnancy and set me up with pediatric orthopedist and a surgical team to be on standby.

Fast forward to his birth, my son was born with one of the worst cases of unilateral right clubfoot. He also was born missing toes, and bones in his foot and leg, but he was healthy in what mattered. A foot could be fixed! Yet, it wasn’t that simple.

The toll of son’s medical needs (weekly castings, and several surgeries) at 4 years old, left him diagnosed with Tibular hemimelia and a year later, he needed a surgery that insurance did not want to pay for.

I was presented with several challenges to get my son what he needed. I had to fight for my child, medically and with the school system. I had to fight for approval for surgeries, physical therapy beyond insurance limits, AFOs and medical equipment in which he required. I had to fight with the school, for aides to help him maneuver the hallways and steps, and home instruction on periods of surgical recovery. So, having a child with disabilities steered me into advocacy. I advocated for my child.

Exactly two weeks after that finally approved surgery, I was worn out and ended up getting the flu. I went to urgent care because I needed medicine to help me recovery. I was not able to be an effective nurse and mom to my son. At the appointment, I mentioned to the doctor that I had extreme pain in my fingers and wrist, more than flu aches and pains. I also had extremely white fingers. He asked if arthritis ran in my family - it did. He took a blood panel and stated it could be arthritis, or possibly carpal tunnel. A few days later, the doctor called me with the results. He stated I had speckled ANA which is an indicator of an autoimmune disease. His thoughts were either rheumatoid arthritis or lupus, and referred me to a rheumatologist.

While awaiting my appointment, more symptoms started to emerge. I was always tired even with sleeping well. I was always cold and my fingers and arms were getting these darker patches. The stiffness of my hands and wrists worsened. he rheumatologist, after several tests and examination, diagnosed me with Lupus and Raynauds. I had an answer, finally!

I have an incurable disease but there’s treatment to keep it under control. I will see the rheumatologist every 3 months. I started to question the diagnosis the more I read about it. It didn’t seem like the medications were helping. When I voiced my concerns to the rheumatologist, I was dismissed. He told me I was being a hypochondriac. I left that appointment angry and scheduled an appointment for a second opinion with a credited Lupus specialist. The wait would be 5 months!

Five months felt like forever! I fought and won my battle with my son’s school and was awarded a full time aide, and he was recovering nicely post surgery. My family medical leave was ending and it was back to work. The demands of the job, mentally and physically exasperated the condition of my health. My hands had gotten stiffer, they were swollen and hurt to move. I couldn’t grasp or hold on to items. I couldn’t make a fist and I had these white sores on my knuckles. My skin everywhere was tight and shiny with patches of white and red dots. I could barely get through my work day typing. I was always cold. I was wearing 3 to 4 layers and still cold. The pain made me cranky and I didn’t have patience for anyone, including my son and husband. The fatigue led me to bed after work and waking still tired. I was failing in keeping up my duties at home and at work. Until one day, while freezing under the AC vents literally turned me into a paralyzed stone statue. I called for help and the coworker who came to help me said you don’t have Lupus, you have CREST (now called Limited Systematic Sclerosis aka Limited Scleroderma). He shared how something similar happened to his wife, who was diagnosed with it. I checked the list of symptoms for Scleroderma and jackpot…..it matched mine! I saw her scleroderma specialist, who confirmed I did have Scleroderma. He told me there is no cure and it’s a very progressive disease with few options of treatment and preventive care didn’t always help.

He gave me 9 years to live, and the name of a Scleroderma Center and specialist that had been researching the disease and conducting medical trials and strictly geared towards Scleroderma patients. I was terrified. I left crying. Looking back, I don’t think I really heard anything the doctor said. All I heard was you are going to die. You have 9 years to live! I was given a death sentence!

I felt some reassurance when I went to Long Island Jewish Hospital (Northwell). This Center was one of the top recommended Scleroderma Centers in the Country. When I went for my original consultation there, I couldn't believe how informed and knowledgeable the doctor and his Nurses assistant was. They knew so many things, I was in an information overload at all of the knowledge and tips I learned from just my first appointment at the Center. I left there a little more knowledgeable, although I knew I had a long journey ahead battling this disease.

Even though I knew I was in the right place, with the right doctor, I still was not fully prepared for learning to deal with all the changes I was going through physically to my body. My emotional state, my self confidence and independence and outlook was bleak! I was exhausted from all the doctor appointments, all the baseline tests needed and in constant worry if Scleroderma affected any internal organs. It was a constant struggle just getting through the day. I knew my life with Scleroderma would be the total opposite of my “healthy” life I’ve been living the last 38 years. Scleroderma was going to dictate and be the boss in my life now.

After all my baseline tests, I met with my rheumatologist who advised me I had Scleroderma and it was not Limited but Diffuse. I also was diagnosed with Raynauds Phenomenon, Erosive Esophagus and GAVE (watermelon stomach). I was warned that "I better get ready to feel some of the worst pain ever.” There was no treatment just preventive care. I left there feeling terrified, with a handful of brochures. I then started my journey to find out exactly what Scleroderma was. Most of my research was through the internet, reading books and social media. I hid behind the computer screen, only sharing my struggles with my immediate family and close friends. My face was changing, my hands were curling and eating was a chore! I was embarrassed what the disease was doing to me. For 7 years, I continued to barely live or want to live, until I was at my wits end fighting infections from the ulcers riddled on every knuckle and finger tip. I needed to talk to someone who also has Scleroderma. I decided to ask for help in an online support group. It is there I met Prasha.

She saw my post and noticed we lived close. She privately messaged me, and our friendship blossomed through the trials and tribulations we were both facing. She was an amazing person who was fighting to just breathe. She shared how the Scleroderma Foundation has been a great resource on her journey, her advocacy efforts for Scleroderma and PAH, and urged me to join.

I began attending support group meetings and education forums. It was a game changer for me. Finding and learning from others, I became more confident that I would be able to fight Scleroderma and whatever it threw at me. I began advocating for my health more with insurance to seek coverage for the best doctors and treatments, for my condition. I was pretty good at it too and I started to share all I learned with others. I started to find the passion to help others and not focus on this life sentence. By this time, I had been a patient attending scleroderma support group meetings for several years. It gave me hope and I wanted to give that hope to others. I needed to give back and I wanted to help others who were newly diagnosed or living with Scleroderma, and give them guidance on doctors and treatments, that weren’t easily accessible to me. After all, My diagnosis came from an attorney!

I decided to Volunteer for the Scleroderma Research Foundation as a Crew Member to help raising funds for research. My awareness efforts were noticed there and I appeared in a “What Research Means to Me” column. I could work a room full of big pockets at their yearly Cool Comedy event in Manhattan, NY. It was there that I met the Executive Director of the Scleroderma Foundation. We spoke after the event regarding possible Volunteering positions available. I wanted to join the Advocacy Committee because that’s where my passion was, but there was no openings. I felt I knew enough from what I learned and endured I can relate to others. In turn, I became a co-leader in my area, while still raising awareness for my rare disease and joining all fundraising events.

June became one of my favorite months. It was Scleroderma Awareness Month. I used social media to raise more awareness. I would create daily posts with a graphic component on a different topic to educate those unfamiliar, and ask to share with special hashtags. I started to see my posts in other countries and in blog posts, etc. I also started to notice other posts about Proclamations from the Governor and building lightings. I was intrigued and I wanted that for my home state, New York. So during COVID, I reached out to fellow patients in Advocacy to guide me.

In January 2022, I began building relationships with my District Senators, Congressman, and Assemblywoman to help me reach out to the Mayor of New York and Governor of New York State to obtain Proclamations. To date, I have not received them but I am hopeful I will by Scleroderma Awareness Day. In addition, my Senator, after several encounters has agreed to help me build awareness and support the new Bill for Federal Funding. The Helmsley Building and Pier 17 in NYC will light their building in honor of the Scleroderma community. I joined the Federal Advocacy Committee to help push forward the Department of Defense bill and helping draw support to obtain much needed research monies.

I tell you this story to share how a disease so horrible can be a gift at the same time. Over the years I learned to turn my grief, frustrations and fear into a motivation. Now at age of 52, I'm determined to help bring awareness and advocate for research funding for rare diseases. I pray that the patients being newly diagnosed will have more information, treatments and knowledge available to them than I did. If sharing my story comforts even one person, then all the pain was worth it. I would like others to know it's not a death sentence but an opportunity to experience life in a different way. Scleroderma does not control me! I control it! If you believe, you can succeed!!! I found my passion, go out and find yours!