First appointment at Mayo with Medical Genetics

@lazyironman, I want to welcome you to Mayo Clinic Connect. I am a volunteer mentor, I am also a patient at Mayo Rochester. Your question about appointment scheduling/travel is one that many of our members can identify with. And I feel certain that you will learn some useful as soon as others see your post.
In the meantime, I suggest that you look at the discussion, ""Tips for First Visit". Currently, it is short enough for a quick read.
https://connect.mayoclinic.org/discussion/tips-for-first-dr-visit-and-testsappt-schedules/
A good source of information is Mayo Clinic's Concierge Service. It is a free service provided by Mayo Clinic for patients.
You can contact @clockrem12, at Concierge Services. They are open Monday-Friday, 8 a.m.-6 p.m. and can be reached by phone and email at 507-538-8438 or concierge@mayo.edu

Rosemary

Hi @lazyironman
Rosemary has provided a great link to learn more from others about visiting Mayo Clinic. I'd also like to bring a few other members into this discussion who have been to Mayo Clinic to investigate unknown diagnosis and medical genetics as well as pharmacogenomic (PGx) testing. Please meet @kdubois @kariulrich and @dawn_giacabazi.

You might also be interested in this discussion
MCTD (Mixed Connective Tissue Disease) https://connect.mayoclinic.org/discussion/mctd-mixed-connective-tissue-disease

And this webinar with Mayo Clinic experts
Video Q&A about Marfan Syndrome: Challenges in Diagnosing and Treating https://connect.mayoclinic.org/webinar/marfan-syndrome-challenges-in-diagnosing-and-treating/

You'll read in other comments in the Visiting Mayo Clinic group, that the schedulers try to minimize your time away from home and schedule your appointments close together. Often the results of the first appointments determine the subsequent appointments. @llwortman and @cynaburst may have more tips on how to get the most out of your visit.

Thank you @colleenyoung I read though the MCTD discussion. While interesting, and I really feel for those struggling with the widespread pain, it doesn't seem to apply to me. Do you have any discussions about those with multiple bleb-induced pneumothoraces? I'll do a search too, maybe something will come up. I do hope the doctors at Mayo can solve the mystery! Thanks again for the links!

Hi LazyIronman,
At least 2 other members -- @major and @janeted -- have mentioned pneumothorax in past discussions. At the moment there isn't a discussion dedicated to the topic. Perhaps you'd like to start one in the Lung Health group: https://connect.mayoclinic.org/group/lung-conditions/

@lazyironman welcome to the group! I am not familiar with multiple bleb-induced phemothoraces, do you know if they are common with Marfans? I have been to the genetic docs at Mayo Rochester and have had whole exome sequencing done, we were looking for Ehler-Danlos syndrome. We did not find the exact gene we were looking for but an interesting mutation of uncertain significance. Hopefully as we learn more about genomics variant genes will be better understood. What did your vascular surgeon at Cleveland clinic say? Did you them for Marfans? You have a multitude of diagnosis and symptoms that need to be sorted out. It sound like you have some overlapping connective tissue components. Can you tell me more about your celiac compression? Did they say anything about MALS? My diagnosis are Fibromuscular Dysplasia, Ehlers Danlos Syndrome, Median Arcuate Ligament release and return of symptoms (Celiac stenosis). The genetics department is good, but if the gene for your particular disease has not been found it can be frustrating. I am sure you will be directed to a team of doctors to help you sort out all that is going on.

@lazyironman I would like to add my welcome!! ! I am very familiar with multiple bleb-induced phemothoraces. However it sounds like you are seeing the best of the best!! Unfortunately as you have discovered with genetics, not enough patients have participated in testing and studies to further evolve our findings of all mutations of genes. But applaud you for participating which will be exciting to see what they discover from your case. Please hold strong and know they will do their very best to reach a concrete diagnosis.

Prayers
Dawn

Hi @kariulrich thank you for sharing your experience! That is very helpful. I have no idea what to expect from my appointment but I really do hope they do the whole genome sequencing. That would be very interesting and if my genetic makeup can help others, that would make all of this worth it :). I work in biomarker research so as a scientist I would be equally as fascinated to see the results.

I've been evaluated for Marfan twice. First by a cardiologist in 2014 who said it was possible was not conclusive and a rheumatologist in 2017 who also said the same thing you did - that I have characteristics of several connective tissue disorders but not all the symptoms of one in particular, so he also was leaning towards Marfans. And yes, spontaneous pneumos are more prevalent in people with Marfan Syndrome so that's the most likely cause. However, it could also be a mutation of a gene that is not known yet or well understood, which would be frustrating but maybe we'll all learn something new 🙂

I have been diagnosed with MALS, however it has proved to be a very controversial diagnosis. If you are a member of MALS Pals on FB, my story will sound familiar. I went to Cleveland Clinic in 2016 specifically to be evaluated for MALS after years of running-induced stabbing pain under my right rib that no doctor or PT could figure out. I was diagnosed with MALS via CTA and a diagnostic celiac plexus block, even though my arterial velocities were just barely above normal (207). My symptoms were/are atypical as I don't have pain with eating; my pain was and still is exercised-induced. There have been a few papers published on MALS in athletes that suggest that pain with exercise is the primary symptom in athletes (Brody et al 2017, Brody et al 2016, Davies et al 2017), but most MALS experts still believe that postprandial pain needs to be present to conclusively diagnose MALS. Dr. Park did think that surgery would work but I opted against it at the time since the success rates are not that great and some patients end up with GI issues post-op that weren't present pre-op and I wasn't willing to go through surgery at that time unless my symptoms progressed. When I developed pain in May 2017 that radiated from my back around my ribs and into my abdomen/chest, I thought my MALS was progressing so I reached out to a local vascular specialist to discuss my options (Dr. Park is no longer at Cleveland Clinic so I had to find someone else). The vascular specialist I saw in Skokie agreed with the diagnosis and wanted me to have a nerve ablation first before surgery. The interventional radiologist who performs the ablations disagreed with the diagnosis, reviewed my case with the medical board and they would not agree to the nerve ablation without an arteriogram to confirm MALS. He was correct in questioning the diagnosis and during the arteriogram, it was found that I do NOT have a celiac artery. Typically the celiac trunk branches into 3 arteries: the splenic (going to the spleen), left gastric (going to the stomach) and common hepatic (going to the liver). With no celiac artery, my arteriogram showed that my splenic artery comes right off my aorta, my left gastric artery comes right off my aorta and my common hepatic artery comes off my superior mesenteric artery. It's the rarest form of vasculature but with no celiac artery, I "technically" don't have MALS, however, I do have a compression on my splenic artery which is what both Dr. Park and the other vascular specialist saw on my CTA's and assumed was my celiac artery. Sorry that was lengthy! But it's been quite the diagnostic journey.

After my right lung collapsed and the surgeon went in to repair it, she did say that the location of the bleb (back of the middle lobe) would absolutely cause the radiating back/rib pain I've experienced and I'm waiting patiently to see if perhaps it was the lung bleb all along causing the pain under my rib that I've had for years. It's entirely possible that the compression on my splenic artery is causing no symptoms at all, which is why my case is so difficult. I just started running again last week so I don't know yet if that pain under the right rib still exists or will be gone now that the lung is fixed. While my primary goal of coming to Mayo is to find out if I have a connective tissue disorder, it would be interesting to pick their brains about the splenic artery compression since there is absolutely nothing in the published literature about it.

Was your MALS surgery successful? How were you diagnosed? And how did they conclude you had EDS without the gene? Or do you have hEDS?

Thanks so much! Sharing experiences is highly valuable and I appreciate it!

Katie

Thank you @dawn_giacabazi !

Have you had SPs too? If so, do you know why? Everything I've heard about Mayo has been positive so I know I'm in good hands! Hopefully my genes tell a story and if not, at least I'll know I tried!

Katie, You might be interested in following these MALS-related discussions and EDS-related discussions that Kari mentors in the Digestive Health group:
* Post-MALS surgery https://connect.mayoclinic.org/discussion/post-mals-surgery/
* Median Arcuate Ligament Syndrome (MALS) https://connect.mayoclinic.org/discussion/median-arcuate-ligament-syndrome-mals/
* Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/

@lazyironman. No I am not diagnosed with SP but however I have had some patients with the blebs (air sacs) which in their cases they may have had them for a relatively long time and more than one. In one of my female patients, The length of time is unknown since they had no prior images to rupture. She simply was flying when one of hers ruptured. I also know based on my prior patient who was a long time smoker that the doctors contributed smoking to the cause of His. However he had imaging done in his 20’d that showed no evidence of blebs and now images show 4 just 54 years later.
I am a bit curious to find out what genes you have that may be know as triggers to the structural framework of the cells development and uptake.

Please keep in mind I am speaking from experience. I am not qualified to give you medical advice.

Sincerely
Dawn