A Eosinophilic Esophagitis & Mitochondrial Disease Warrior
Born Valentine's Day 2019, Rowen has an undiagnosable mitochondrial disease, Eosinophilic esophagitis, autism, fevers of unknown origin, headaches, suspected seizures, and several other diagnoses. It's hard to sum up 4 years of medical journey and advocacy into one post, but here we go!
When Rowen was born, he required surgery at 3 weeks old for pyloric stenosis(essentially meaning his stomach had closed off the opening to his intestines). We had multiple ER visits, pediatric visits, and ultrasounds before they finally diagnosed and took him into surgery 2 hours later. For the next year, we thought everything would be okay overall. I started to notice Rowen's markers for autism around 5 months. I continued to mention it to doctors until we got our referral.
At 20 months old, Rowen got what we thought was his first stomach bug. Turns out, it was the beginning of a very long road to multiple diagnoses and hundreds of thousands of appointments. This began at the beginning of COVID-19, so we were continually brushed off, saying he had COVID-19.
I finally got someone to listen to the complete list of symptoms, vomiting nightly, starring spells, super lethargy, dehydration, extreme weight loss, pain in his legs, and so on. They sent us for an urgent MRI to rule out brain tumors. Luckily, it was ruled out. However, his brain showed white lesions that could be due to a stroke in utero. We were sent to Neuro, GI, and genetics. That began our long road of endless appointments every week. At the same time, we were also fighting for an autism diagnosis. Since then, we've had MRIs yearly, several endoscopies, and multiple other surgeries to help with Rowen's medical issues. We've also spent countless nights hooked up to monitors and fluids in the hospital. Rowen received several inaccurate diagnoses over the next couple of years, and now they have realized it's because they don't have enough information to diagnose him. We were diagnosed with EoE at 2.4 years old. It's an immune system allergy to foods that causes extreme damage to the esophagus over time. It builds up eosinophils in the esophagus, leading to significant scarring.
We cut out gluten, dairy, soy, rice, and oats to get his Eosinophil count from thousands to 0! We will continue that diet lifelong to help maintain his weight and health. As we met with genetics, they ran whole exome sequences and found multiple genetic flips that are ultra rare. We sought a second opinion 600 miles away in Philadelphia and were accepted into the mitochondrial medicine frontier program at CHOP. They have run every possible test for genetics testing and come up with a series of genetic flips that are rare and lead us to a label of "undiagnosable mitochondrial disease." Rowen goes through episodes multiple times a month that result in a long list of symptoms. During those times, he's in pain, physically and mentally. It takes a significant toll on his body. It leaves him very lethargic and limping, with fevers, headaches, so many GI symptoms, and more.
He's the happiest kid. You wouldn't know how sick he is if you looked at him. Our list of specialists is long. We added another recently: immunology has discovered some issues with very detailed labs. I suspect another diagnosis of an autoimmune disease in the coming weeks. Since Rowen's genetic mutations are so rare, we may not get a firm diagnosis for years to come, though we know what it's similar to, and our team is working hard to come up with options for medications to help him function well day to day. We have no idea what the future looks like for Rowen. We are living our lives to the fullest until we know more.