My rare disease is called sporadic visceral neuropathy. There are only four known recorded cases worldwide and very little research on the disease. My diagnosis is relatively new — late 2019 — but I’ve probably had the disease for quite some time. The rare disease affects the enteric nervous system of the bowel, and I have nerve damage throughout the entirety of my intestines.
My diagnostic journey was nothing short of a nightmare, not to be dramatic, but seriously, it was a roller-coaster that I couldn’t get off! I was given extensive workup CTs, abdominal radiographs, colonoscopies, and endoscopies, which were all unremarkable. I’ve been told repeatedly there is nothing medically wrong with me, and I started to get flagged and accused of drug-seeking behavior. Medical professionals thought I was faking my pain to get pain relief, and I was accused of liking the attention I received in the emergency room. I understood, but I knew something was wrong with me.
On one occasion, I begged the doctor for a second opinion. I stood my ground, and they found that a portion of my large bowel had collapsed and had a potential band adhesion. They booked surgery straight away and removed the adhesions. We thought I was fixed after this, but to no surprise, I wasn’t. I kept coming into hospital with the same symptoms that were progressively worsening.
This led to further specific testing and surgery. I got discharged from the hospital and was recovering at home but wasn’t doing well. A swift trip to the hospital revealed I had a bowel obstruction, again. No one realized the extent of the disease I had, and it wasn’t until pathology returned from the organ they removed (the large bowel) that they discovered I had no reactive nerves in what they removed. There is absolutely no explanation as to why I have nerve damage, and upon further testing of my remaining intestines, they, too, were found to be diseased. This is when I got diagnosed.
With this disease, I have learned not to go into anything with expectations. It is hard to say what the future will look like for this disease, and at this point, I have had all the possible treatments I can have. I’ve tried medications, some with adverse side effects; I have had over 15 surgeries within the span of two years, with multiple procedures involving trying out devices and changing diets; and I’ve been admitted to the hospital over 150 times in the span of a year.
As this disease progresses, my team and I continue to learn about it. My team continues to grow and is now a large multidisciplinary group across different hospitals. As hard as it has been to get here, I appreciate the care I have received and continue to receive, but the future is unclear; my greatest risks are bowel perforation, infections, toxic megacolon, malnourishment, and tissue death.
I share my story because I don’t think I am alone. My team has published my case in medical journals in hopes of finding other cases or medical professionals who may have more input on care options. My hope is that with more research, more specific diagnostic testing can be identified. At this stage, the only way to diagnose is by removing an organ. In the hospitals I have been in, they use my case and myself for training purposes, bringing students in to ask questions about my case. I think this is great because this is so rare, and even now, with multiple diagnoses, I still get met with a steam train full of questions, confusion, and disbelief. I find myself having to bring evidence with me to prove myself. I think more training can go a long way, because even though it is rare, diagnoses like mine do happen. I know there is a lot worse out there, and I am thankful to still have my life. I appreciate my family and partner who keep me grounded through this whirlwind, along with the medical professionals, doctors, nurses, and social workers who have gone above and beyond to care for me.
