Invisible Stripes: Leigh’s Story in Honor of Rare Disease Day

Categorized in -

By Leigh P.

Fb img 1696442560178 1 1

I was diagnosed with Graves’ disease in 2019 after four consecutive miscarriages and a lifetime of symptoms that were misunderstood by professionals.  

A person with Graves’ disease doesn’t look sick or disabled, and if you don’t look sick, then people can be very cruel and dismissive towards your symptoms. My husband, my son, and my small friend group were my rocks during treatment. I wouldn’t have made it through if it weren’t for them.

Since puberty, my thyroid levels have swayed between high and low but were never classified as alarming; they were just a little outside the “normal limits.” Looking back, I had all the symptoms of a thyroid disorder – significant weight fluctuations, heat intolerance, cold intolerance, excess sweating, tremors, heart palpations, anxiety, irregular periods, etc. Despite the symptoms and out of range thyroid levels, providers always blamed my weight for my issues.

Fast forward to my 30s, my symptoms had gotten progressively worse, and providers continued to blame my weight. My husband and I managed to conceive in 2017 and my OBGYN was the first person to start treating my thyroid. A quick ultrasound of my thyroid showed a substantial goiter, and a physical examination showed a noticeable full body tremor, eyes that were starting to bulge, and heart palpations. A radioactive iodine uptake scan a few weeks later would confirm the diagnosis of Graves’ Disease. 

The only viable treatment option for me was a total thyroidectomy, but my health and levels were not safe for surgery. For the next six months, I was put on medication to bring my thyroid levels back into the safe range for surgery, but it caused weight gain, extreme mood swings, hair loss, bleeding gums, nausea, migraines, and more. The worst were the muscle cramps that could occur at any time and could impact any part of my body. In May 2020, I underwent the total thyroidectomy after two near thyroid storms and several emergency visits.

I was blessed to have a surgeon who loudly advocated for me to have the surgery during the pandemic; he fought for me and likely saved my life. After my total thyroidectomy in May 2020, my son commented that my incision looked like a happy face – he was right. I felt so much better and within two weeks my symptoms were mostly gone.

I will spend the rest of my life on medication and will need to have my levels managed by an endocrinologist. We also were not able to have more children due to the fall out of Graves’ and I have a 1-30% chance of the disease reoccurring despite having my thyroid removed. But I am alive, and I couldn’t be happier. A few years after surgery, I underwent gastric bypass surgery to help me lose the weight I put on during thyroid treatment and I feel better than I have ever felt. I have the energy to play with my son and my “happy face” scar reminds me daily how strong I am.

I even stepped out of my comfort zone and am competing in the Mrs. Colorado 2024 pageant as Mrs. Briargate 2024. I am using my title to advocate for others who are going through similar battles. My mission is to encourage others with rare diseases to live their best lives. I want to provide support and community. I want to help others feel heard and seen. 

Living with a rare disorder can be isolating, with significant mental health challenges in addition to the testing and treatment that goes along with having a rare disease. It also presents significant financial challenges for the patient and the patient’s family. I want to bring awareness to the rare disease community and advocate for research and better financial support. Rare Disease Day is an opportunity to raise awareness on a global scale. It is also an opportunity to come together as a community to support and uplift each other. 

Living with a rare disease doesn’t just mean getting treatments and seeing doctors. Sometimes living with a rare disease means having the strength to pull yourself up and face the world after a rough day of treatment, a re-occurrence, or a doctor’s visit without answers. It means having the strength to advocate for yourself or your loved one when others dismiss you. It can take years of perseverance to get a diagnosis and start treatment and sometimes there is no treatment available. Living with and caring for someone with a rare disorder requires strength, empathy, and courage. It can be exhausting both mentally and physically for patients and caregivers alike. It takes the ability to love deeply and be vulnerable. 

Leigh’s symptoms were dismissed by her providers until her OBGYN and surgeon began advocating for her. If you are a health care provider who wants to learn more about rare diseases so you can advocate for your patients, we encourage you to explore NORD’s free Continuing Medical Education (CME) program in partnership with PlatformQ Health. 

Feeling inspired? Learn about ways you can get involved this Rare Disease Day, including by making a donation to NORD today.