- CASE FILE
Suffering from a series of autoimmune conditions and extreme GI dysmotility. Have been told I am most likely one in the world. Help me.
ABOUT THIS CASE FILE
Welcome to my mystery that I have been battling for 3 years. I have been type 1 diabetic since 2013 but that is not even the beginning of my health problems. Ever since I was born, I have been getting sick easily with viruses. First doctor visit was 2 weeks old. I get bronchitis on average around 3 times a year. I was hospitalized for it a few times when I was younger. In 2013, I was diagnosed with diabetes and thought that would be my hardest battle. In 2016, I was diagnosed with severe gastroparesis that I believe I have had my whole life. I ended up with my left ankle becoming paralyzed and EMG tests have confirmed permanent nerve damage in that leg. That concludes that hospitalization. After 6 months of struggling with food but being able to attend college, I was unable to hold anything down. I ended up getting an antroduodenal manometry that showed my stomach no longer functions and that my intestines have some signs on dysmotility. I was placed on a GJ tube for that. That hospitalization lasted 2 months. That November, I could no longer tolerate feeds. I was placed on TPN and have been on it ever since. It will be 2 years this November. In May of the next year, I was in my first round of sepsis. I had an extremely rare bacteria found in my line. After that hospitalization, I started getting cyclic fevers. Every day, I would go to 100+. Sometimes I reached 102. Because of my central line, this required admission. I was in and out of the hospital for 4 months. It was also found that I had eosinophilia. I had genetic tests done that showed LRBA deficiency and MPZ, consistent with Charcot-Marie Tooth disease. I was officially started on my longest hospitalization September of that year. 2018. A bone marrow biopsy showed anemia of chronic disease and eosinophilia but no other reason explaining the fevers. A PET MRI was performed and showed that the lymph nodes in my chest were hyperactive and enlarged. Ground glass nodules were found in my lungs. PFT’s showed that my lungs have experienced damage from my immune system. A mediastinosocopy was performed and the lymph nodes tested. Nothing was found except eosinophilia. I was started on an immunosuppressant called Abatacept. I was on that for about 4 months. I still experienced fevers but we got my eosinophils down with high doses of prednisone. In February of this year, I had my second round of sepsis. A lower gut bug was found in my line and blood. My temp went up to 104 when I arrived in the ER. In that hospitalization, we realized that there is a medical reason that bacteria was found in my line and blood. I was taken off the immunosuppressant. It was discovered that my th-17 cells are low/missing. I had my wisdom teeth removed in the middle of July of 2019. In the post-op recovery, I went into respiratory failure. I was intubated and placed on a ventilator. They believe that the damage from my immune system to my lungs caused the respiratory failure. My doctors and I are now on a search for an answer. All the great minds in my area are lost on what to do. We are in contact with a few places(NIH, Mayo) but we want any answer and any cure. I have been out of college for a year and just want my life back. Our main goal is for me to get off TPN but we are very far away from that. We need a cure and we need it soon.