Hi everyone! I joined this group with the hope that I can come to Mayo as prepared as possible.
I’ll be coming out to see a medical geneticist on Jan 3rd to be evaluated for a connective tissue disorder. So far I only have one appt scheduled but in addition to the genetics group, I know I will need to see at least a cardiologist and possibly a pulmonologist, ortho, thoracic surgeon and possibly a vascular surgeon. I’m not comfortable booking a hotel room, taking off of work and traveling all the way out there for ONE appointment. I know my paperwork says to prepare for 5-7 business days but I feel like I should call and schedule more appts myself with the other doctors? How efficient is this system? I hear good things but this is not what I’m used to! As of now, I see a medical geneticist for a 90-120min appointment on Jan 3rd. Which gives me the rest of Wed, Thurs and Fri and I’m hoping to be heading home after those 3 days without having to stay for the weekend.
Ay advice about visiting the medical genetics groups would be helpful. Especially if you went for a connective tissue disease!
My medical history is a bit long so I’ll try to sum it up as best as possible so you know why I am coming out to Rochester when I have access to great doctors in Chicago. My strange medical history goes back to 2004-2006 when I had 5 spontaneous pneumothoraces (collapsed lungs). I ended up having surgery on my left lung in 2006 (VATS with blebectomy, wedge resection and mechanical pleurodesis). I was healthy for many years until 2014 when I tore the labrum in my left hip and had surgery to fix that and the FAI. I then tore the right labrum in 2016 and had the same surgery to fix that hip. My right lung then got jealous and collapsed Aug 24th, 2017. After giving my history to the doctors, I had nearly 6 of them say, “you need to go to Mayo, this isn’t normal”.
Okay, okay, it wasn’t the first time a doctor thought I was a medical mystery. In 2006, I had 3 pulmonologists and a thoracic surgeon ask if I had been tested for a connective tissue disorder. I looked at them cock-eyed. That was my first time hearing “connective tissue disorder”. I forgot about it until 2014 when I had a CT scan for chronic abdominal pain and the tech took one look at my tall, thin, lanky body and asked if I’d been evaluated for Marfan Syndrome (a connective tissue disorder). I told him about 2006 and that I had been asked the same question back then, so I decided to finally follow through. Saw a cardiologist at Northwestern who specializes in Marfan Syndome in woman. She said I was borderline because I had enough minor characteristics but no major characteristics. She said a genetic test would be the only way to know for sure but I declined at the time. My echo at the time (2014) showed 3 leaky valves but they were all functional.
When I started having back/rib/chest/abdominal pain in April 2017, all on my right side, I tried every doctor and test to figure it out. MRIs were normal, xrays were normal, bloodwork normal. A rheumatologist at Rush concluded I had a connective tissue disorder but he could not pinpoint which one. A vascular surgeon at Cleveland Clinic and North Shore (Chicago) both thought I had a vascular compression disorder affecting my celiac artery. An interventional radiologist disagreed and did an arteriogram showing I was born without a celiac artery and rather, I have a mild compression of my splenic artery. There is NO research or published literature showing a connection between a splenic artery compression and right sided abdominal pain. He suspected it was my lung the whole time causing the pain and did intercostal nerve blocks to prove it. My lung collapsed while I was going through this diagnostic process and while in the hospital, I had a new echo that showed my mitral valve, while functional, is degenerating.
I’m coming to Mayo primarily to see if a connective tissues disorder is the underlying cause of my multiple bleb-induced bilateral spontaneous pneumothoraces. But I also need to talk to a cardiologist about my mitral valve degenerating. Oh and maybe a sports medicine doctor since I train and race long distance triathlon (Ironman distance) so I’d like to know my risk of sudden death from heart failure. But at the same time, since I am coming to the “best” hospital in the US, I figured I’d sort out the celiac artery/not-celiac artery/splenic artery compression.
I just wish the appt scheduling was a bit more organized ahead of time to make sure everything is covered! Although it does seem like once I’m there, everything will be looked at so I go home with some answers and a game plan.
Liked by Kelly, Alumna Mentor