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First appointment at Mayo with Medical Genetics
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.
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Thanks @dawn_giacabazi . There doesn't seem to be a lot of discussion within thoracic surgery as to WHY these blebs develop. That's my biggest question. They certainly know how to fix it but the WHY is most important to me and perhaps we won't know that answer for some time. Smoking does seem to be a risk factor (I've never smoked though). I had a CT 11 years ago when my left lung kept collapsing and in reviewing it a few months ago after my right collapsed, there were no obvious blebs on the right side back then. It looked like there may have been a small apical bleb but when the surgeon went in, the bleb that had burst was the size of a tangerine (her words) and on the back side of my middle lobe, so who knows when, how or why that one developed. The apical blebs were also removed but were intact.
I'm temped to request the tissue that was removed so I can perform my own pathology on them and look at various biomarkers. That doesn't seem to be a clinical standard but maybe that's the best way to find out what is different in healthy lung tissue versus the area of the bleb.
Hi @lazyironman, I'm glad you found Connect!
Scheduling the first appointment for the first day with nothing scheduled the rest of the week before you get there is completely normal. Mayo's scheduling methodology is phenomenal, and they'll easily be able to fit additional specialists and testing in the week you are there.
I've also have genetic testing done at Mayo: pharmacogenomics testing. They figured out that I had been sick for 12 years because I don't properly-metabolize most medications because of genetic polymorphisms. These findings saved my life, and I wish more people had access to this testing.
Additionally, we think that my daughter has a connective tissue disorder, either Marfan or Ehlers-Danlos, and Mayo pediatric is looking over her records from home right now to see if they can see her. After how much they helped me, working to get her into Mayo was the next logical step.
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4 ReactionsHi @kdubois thanks! I've heard it's the norm so I'm trusting the process and excited to come out there and see what kind of mysteries will be solved 🙂 I've spent most of my adult life having to collect pieces of the puzzle from various doctors and try to figure it out myself but with the way Mayo works as a team with everyone communicating, it sounds like it will be much more efficient than my prior experiences.
I've had weird reactions to many drugs in the past so I found a company, Admera, that does pharmacogenomics testing and had my doctor order it earlier this year. Unfortunately, the results made zero sense and did not line up at all with the side effects and reactions I've had in the past. In fact, many of the recommendations from Admera were the opposite from my experience, for example recommending higher than normal doses of drugs that genetically I should be a fast metabolizer of but I actually have to take 1/4 the normal dose for it to work with minimal side effects. My doctor and I agreed to ignore the results and continue prescribing based on my experiences. I'll certainly mention pharmacogenomics during my appointment and perhaps their results will be more accurate and helpful!
I'm so glad to hear they helped you with pharmacogenomics testing and I hope they can help your daughter too. Let me know how it goes for her!
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2 Reactions@lazyironman I would definitely ask about PGx testing while you're there even if you've had it before. Even if you don't have the testing done, you might want to meet with the pharmacist there to have him explain things because it is a lot to learn and can be confusing.
I'm happy to hear that you have a doctor who is willing to work with you on this. That's very important!
I'm hoping to hear back from them soon re: my daughter. She will need PGx testing too, which is one of the reasons I want Mayo to do it -- to be consistent with my testing provider.
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2 ReactionsI am such a HUGE advocate for PGx testing and have had it help 100’s of my patients. Half the battle is finding the right lab and right test results translated to be easily dissected by the Physicians and most importantly the patient. Mayo Clinic certainly has that figured out and I am confident if take your results with you they will help you dissect the Reports.
Prayers for you both
Dawn
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3 ReactionsThanks @dawn_giacabazi and @kdubois . I had high hopes and was super disappointed but perhaps the company I used wasn't the best at interpreting the results. I will definitely bring a copy with me and discuss the results with the doctors at Mayo. There were a few results I had major concerns with so hopefully they will interpret it more accurately.
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2 ReactionsKatie, I am very familiar with MalPals! I do not get over there as much as I would like to. They have a fantastic person running it, I am sure you know Robin. Her and I have been through the same types of MALS surgeries around the same time. So interesting about your spenic artery, with my first MALS surgery they checked the surrounding arteries intraoperatively, and found my hepato-spenic artery also stenosed and opted to do an patch angioplasty on that artery after bypassing my celiac. I believe my fibromuscular dysplasia (FMD) contributed to that and having to repeat the MALS surgery. I do continue to have symptoms after the second surgery. I also have exercise induced pain along with postprandial pain. I was diagnosed with my FMD while training for a half-marathon. Running and my body do not get along, so I walk when I feel up to it. I do miss the runner's high I would get at mile 10! LOL I was diagnosed wit EDS at the National Institute of Health by a researcher who was studying connective tissue disorders that included FMD, EDS, Marfans, Sticklers, they all overlap in some ways. May confirmed it, yes it is hypermobile so no testing, just based on clinical manifestations. I have a variant of the TNXB gene, however the genetics doctors at Mayo did not know the significance of that at the time. They consulted some of the top EDS docs in genetics and did not have any answer for me. (This was many years ago, I believe they have found out more about this gene now). It does not change how I am treated for symptoms, It is just validating to know. Especially for the sake of my children! I am so happy you found Mayo Connect and I look forward to following your journey. My vascular surgeon at Mayo Rochester is Gustavo Oderich, he is familiar with vascular disease with underlying connective tissue disease, in case they want to address your Splenic Mals.