We have all heard similar versions of the same story. A person suffering from symptoms of unknown etiology goes from doctor to doctor in a desperate attempt to get answers. Some eventually get the long-awaiting diagnosis they were searching for. Others, unfortunately, must continue looking. It took Irielis months to receive her diagnosis of a rare, neurological autoimmune disease.

Irielis was a 19-year-old freshman in college in 2012. She was a known, well-controlled Type 1 diabetic since age ten, and otherwise healthy. She also was a double-collegiate athlete, playing D2 soccer and lacrosse as she studied criminal justice.

In the spring of 2014, during the second semester of her sophomore year, the bone pain started. It first began in her legs, then spread upwards to her lower back. “You know when you hit your shin and the pain radiates up and down? That’s what I was feeling constantly,” Irielis described, “but I attributed it to sports.” As time passed, the pain began affecting her upper body. She tried to ignore it and called it anxiety, but it got worse. “It got to the point where my chest would feel like it was being crushed. My heart and ribs hurt all the time,” she described. It became clear that the pain was related to something more than a few shin-splints or anxiety-related tachycardia.

Irielis reflected on the early stages of the diagnosis process. It took her quite a bit of time to accept that something was wrong. She laughed and said, “In the beginning, I was convinced that I had diabetic neuropathy. At the time, I didn’t know specifically what that is. But nurses and doctors always mention it, so I assumed that’s what I had.”

Any fellow healthcare worker reading this knows that something bigger was going on for Irielis, but can we take a moment to appreciate the intense education we provide to diabetics?! 🤣 #CheckYourFeet

Irielis decided to wait to see if her symptoms improved. “I was afraid that people would think I was faking it, so I stayed quiet,” Irielis admitted. Things didn’t get better, though. They got worse. “I started having frequent falls that nobody knew about and sometimes would hit my head. I had noticeable bruises. The panic attacks got bad. I had to stop playing sports and I eventually stopped working out and jogging entirely,” Irielis recalled.

She finally went to her primary care doctor. He did a physical examination, ordered the basic labs, and took a subjective history. Once she finished describing her symptoms, he asked Irielis if she was looking for pain medication. Ouch. He said that there was likely no physical cause for her symptoms, except possibly shingles. Irielis agreed to treatment for it. He wrapped up the appointment with a script for an antiviral and gave her names of a few local psychiatrists. Ouch (again).

She decided to see the psychiatrist anyway. The psychiatrist believed Irielis was experiencing “true physical pain,” despite also suffering from anxiety. This pain had been going on for months now, yet this was her first validating encounter with a healthcare professional.

During finals week in May, Irielis got the flu. The virus and the stress sent her into DKA for the first time since her initial diabetes diagnosis, and she was thus admitted to the ICU. From that hospitalization until mid-June, Irielis had lost 20lbs. She was in and out of the emergency room, sometimes with multiple visits in one week. They would give her pain medication and IV fluids before sending her on her way, with the suggestion that she return to her primary care physician.

So she did. This time, he suggested seeing various specialists for further testing. He wrote referrals for a rheumatologist, hematologist, and neurologist. Anybody who has ever dealt with the world of healthcare and/or insurance knows that this is much more tedious than it sounds. The referral process lasted until August. By that time, her total weight loss was up to about 50lbs. Irielis recalls eating only one to two meals a day because “it was so tiring.”  Her decrease in appetite was accompanied by frequent nausea and vomiting. Subsequently, her endocrinologist had to take her off her insulin pump. Irielis began noting new onset gait imbalance and increased generalized weakness. “I was in a very depressed state. Between the physical pain and going through a breakup from a very toxic relationship, I was in a really bad place,” Irielis disclosed.

The end of August rolled around, and it was time for Irielis to return to college for her junior year. Her symptoms remained the same. She decided to take a leave of absence from school in mid-September. By that time, she finally had upcoming appointments with all of the specialists.

Irielis recalled having to tell the same story over and over again. She shared:

“I remember they tested for Lupus five or six times. They checked for a whole list of things, including Lyme’s Disease. I got the result at the end of the week that four out of five of my markers were positive for Lyme’s disease. So, I received treatment for that too. I hoped it was the correct answer. I just wanted that to be it. By this time, I felt so fragile and weak. One night, I fell leaving my room and actually dislocated my shoulder and fractured my collarbone. I was in excruciating pain all the time. It felt like my body was shutting down on me.”

That time, when Irielis returned to the ER, they finally admitted her. Over the course of her two-week admission, a total of five different neurologists rounded on her. She continued sharing:

“I remember the moment when one of them said, ‘I’m thinking outside of the box, but maybe it’s Stiff Person Syndrome (SPS).’  The doctor was describing the diagnosis to me, but I was on a Dilaudid PCA through my PICC line at the time. It was like I wasn’t there for that conversation. I couldn’t even wrap my mind around something like that. Then, all of a sudden I was having repeat MRIs, CT scans, and spinal taps, plus EMGs, bone density tests, muscle biopsies…probably other things that I can’t remember. They did so much blood work, including GAD65 antibodies. So much was happening, but things finally felt like they were moving.”

Shortly after discharge, Irielis went to Johns Hopkins where they have an entire Stiff Person Syndrome Center. The workup they completed was a long and painful process. Upon completion, she returned home to New Jersey. By the end of October, she was officially diagnosed with SPS.

Irielis began telling me about her treatment regimen. She specifically said that she had her first IVIG infusion on December 22, 2014. She recalled that pain management was unbelievably difficult. Her doctors were always making changes to her medications. They used a variety of combinations of IV, transdermal, and oral benzodiazepines, opioids, nerve pain medications, and muscle relaxants. She was also on antibiotics and receiving frequent IV hydration. Eventually, they initiated steroids too. This was a reluctant decision due to her diabetes, but there was hope that it would help with her appetite. “There was always a lot going on,” Irielis said to me.

Irielis described a general overview of her IVIG schedule. First, she received an infusion on Friday, Saturday, and Sunday (one per day) every 2 weeks for about eight months. Then, she did that same schedule spaced out to once a month. Her doctor increased her dosage of IVIG so she would not have to get infusions as often. Irielis had returned to school (after leaving in that September of 2014) in August of 2016, so the less frequently she had to receive treatments, the easier it made her life. Despite the scheduling benefits, her body didn’t like it. She said, “When I was coming up on getting it [IVIG], my body felt like it was failing again. Every month it felt like I was crawling to get to the next infusion date.” Despite the difficulty of managing her treatment with school and work, Irielis began receiving more frequent infusions; she did much smaller-dosed infusions weekly. And that’s the schedule she has maintained for years.

As many people could imagine, treatment for and recovery from a debilitating disease extends far beyond pharmacologics. Irielis went to physical therapy frequently, saying that “it was literally learning to walk again.” Irielis and her team devised a diet plan that worked with her T1DM but also allowed her to gain weight. She reported that she finally started to eat normally again in January 2015, about three months after her official SPS diagnosis.

Irielis reflected on her journey, commenting that she knows of too many people who have struggled to get answers for symptoms they are having. She said, “You have to be persistent. I have family members who are doctors and nurses in other hospitals so I asked them for their opinions. My mom was an advocate for me too. She was very pushy. We both were because we both had a gut feeling.”

I asked Irielis what other challenges she has faced throughout her experience. She said:

“I experience a lot of stigma because it’s not a common disease. I have had a lot of healthcare workers undermine my experiences because it isn’t something they were familiar with. I’ve had to say, ‘Please listen, trust me, this is what it’s like.’ When I go to the hospital, I bring a binder that has all of my hospitalizations and medications listed. It makes it easier.”

Then, I asked what has helped her cope. She shared:

“I recently started going to counseling. I only started recently because I have a lot of pride in me kept me from going. But I had to talk about the traumatic experiences, like the tests and procedures, and the things I unfortunately missed out on. A lot of family members had babies during the time I was trying to get a diagnosis. One of whom is my Goddaughter, Marisma. I see her and all the pain goes away. My mom and just family in general; I know that sounds cliché. I listen to sermons and Christian music. Every night, my family and I do a family prayer call with my Godparents. Sometimes I question how I’ve kept praying, but I do. Sometimes I question “why” and envy others. I think ‘I wish I could have what you have,’ but it’s another one of those things I work on.”

Irielis closed out by saying:

“I’m proud of myself for living with this disease and for the other people who live with it. I’ve been blessed with a better outcome and prognosis than most. There’s a Facebook group for people with SPS, and not everyone gets as lucky as I have. My life has some activity and stability. I went back to finish my undergraduate degree, completed graduate school, and now work a regular job at a financial firm. At ten years old, I was diagnosed with diabetes, and I tackled that. I was told I would never be able to go back to college or work, yet I did. I proved to myself that I am capable of overcoming adversity. From the beginning, I said that I’m not going to let this control my life. And here I am, controlling it instead.”

For those, like Irielis, who are presently working on overcoming an obstacle, remember: “Adversity introduces a man to himself.” -Albert Einstein

If Irielis’ story inspired you to share one of your own, please email anothersunrisestories@gmail.com and include a brief summary. I will respond back as soon as possible to plan a time for us to speak. I want to hear what it has been like for you to have another sunrise.

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