Kristie’s Story Part 1: Journey to a Diagnosis

Kristie DeMarco was an extreme athlete- constantly training for triathlons, ironman races, ice swimming, and open water swimming. She loved to compete in various feats of strength and endurance.

Overall, Kristie was in exceptionally good health.  That all started to change in 2016.  She began to have some pain in her left leg.  Her doctor conducted some tests and she was told that she may have some early onset arthritis in her hip and that she should try to take it easy for a bit. She went on to complete her Ironman later that year.

In 2017 Kristie’s pain in her left leg continued to increase and she started to have on and off sweating issues.  Kristie had also been dealing with migraines for years. She was attempting to find a holistic way by trying some different nutrition plans. She lowered her intake of carbs and gluten and found that her migraines did resolve.


“I hadn’t connected my pain to the nutrition plan because it was helping my migraines, but in hindsight the diet change was the trigger for the disease.”

Over the course of 2017 and early 2018 she saw several specialists and had numerous tests to try and figure out the issues with her sweating and left leg pain.  By March 2018, she was no longer able to cycle and did not have any answers.

In June of 2018 Kristie’s peripheral vision started to become wavy and distorted.

Kristie’s doctor decided to order a brain scan to rule out multiple sclerosis.

“I tried not to think the worst but it’s hard not to think it. I was really hopeful someone would be able to figure this out and let me get back to the things I enjoyed doing.”

The MRI was suspect for MS and Kristie was sent to an MS specialist. Every specialist appointment along her journey was taking months to schedule.  This was no different.

After months of waiting and worrying, she was told it didn’t seem to be MS after all. This doctor believed all her problems were separate- the chronic migraines, the leg pain, and her vision distortion. Kristie was told she should have a nerve conduction test done for her leg and see a neuro-ophthalmologist for her eyes.

“I was relieved that I didn’t have MS but I still didn’t know what the underlying issue was and had a nagging feeling something was wrong. I was in tune with my body. I had so much energy and was so active and something was chipping away at my ability to do the things I loved.”

Kristie would spend the next 6 months seeing 4 eye doctors, a physiotherapist, and a neurologist to determine the root cause of her vision and leg pain.  No one doctor was looking at the full picture.  She would receive a separate diagnosis for her leg and vision.

In late 2018 she received a diagnosis of a peroneal nerve entrapment and had surgery. The surgery did relieve some of the pain and did allow her to resume some cycling.

“I wasn’t pain free but I could ride my bike again.”

She finally started to make some traction on her vision after she reached saw the 3rd eye doctor.

“He was the first doctor who actually took time to consult with other doctors before sending me to another specialist. I went to so many specialists along the way- everyone I went to referred me to another specialist. They didn’t call another specialist first to describe the issue and ask if it would be beneficial for me to see them, if they would be able to help me.”

When Kristie came back to his office for a follow-up appointment, he told her he had consulted a retinal specialist who thought she would be able to help. The retinal specialist told Kristie it looked as though she had an inherited retinal condition and sent her to another specialist who was able to confirm a diagnosis of retinal dystrophy- retinitis pigmentosa. Kristie’s visual field was gradually constricting.

“It was not exciting news. I didn’t want to lose my vision. I was asking, are you sure? Are you sure it’s not something else? This whole time I felt like something else was going on, that something was wrong with me, that the pain in my leg was connected, maybe something autoimmune. But they didn’t make any connection. “

They did suggest genetic testing which she did pursue, given she has 4 children.

“I’m so glad I did. It came back with Refsum disease -which connected all the dots.”

The results of that genetic test explained manifestations that Kristie didn’t even know were part of the mystery. It was April, 2019, and she finally had an answer.

 Click here to read part 2!


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