When Charlotte was 22 months old, she spiked a 104-degree fever for 13 days and had rashes all over her body and was struggling to walk due to the joint pain, we knew something wasn’t right. After being in and out of the hospital, she was finally diagnosed with Kawasaki disease. We had a diagnosis, which was great, so Dustin and I went on our way. Little did we know two months later, Elizabeth, 4 years old at the time, would start to exhibit the same symptoms. Due to the severity of her labs and symptoms, she was life-flighted to a children’s hospital, where she was also diagnosed with Kawasaki disease. But something felt off – Kawasaki disease is a short-term condition that resolves within days or weeks and the girls had unrelenting, ongoing symptoms. So, it became clear that Kawasaki disease was a misdiagnosis.
As the girls’ symptoms and hospitalizations continued, fevers, rashes, joint swelling/pain, red eyes, red ears, severe airway narrowing, organ damage and even infrequent seizures persisted. So here we were, the road to finding an accurate diagnosis repeated itself. A few months later, the twist and turns to a diagnosis found us again when Charlotte experienced an episode, which led her to a diagnosis of a rare immune-mediated myopathy. Her labs pointed to Rhabdomyolysis, a type of inflammation-related kidney failure.
The consensus was that the girls were likely battling a rare genetic disease called Relapsing Polychondritis (RP), systemic autoinflammatory disease—although not all their symptoms were consistent with that diagnosis. With the girls’ symptoms worsening, Dustin and I desperately reached out to the National Institute of Health (NIH) and found they were coincidentally researching RP. Tests confirmed Elizabeth and Charlotte had RP. When Elizabeth kept getting weaker, her rheumatologist, stumped due to her weakness not coming from systemic inflammation, finally called in a neurologist specializing in neuro-muscular diseases. He asked questions no one had asked before and did a different neuro exam.
Within five minutes, he had an idea of what she was battling—and tests confirmed it; Elizabeth also had Generalized Myasthenia Gravis (MG), an autoimmune disease. The neurologist described how Elizabeth had significant decrements at her neuromuscular junctions, meaning that her brain couldn’t consistently communicate with her muscles. The rheumatologists were speechless as they had never seen a case where an autoinflammatory disease crossed over into an autoimmune neuromuscular disease so clearly.
Charlotte was then tested for MG and received nearly the same diagnosis. The medical team told us that the girls’ immune systems were so dysregulated that it was causing multiple, severe things to happen, thus the various symptoms and diagnoses. So finally, there was an explanation for the girls’ ongoing symptoms. Finally, we received accurate diagnoses.