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lazyironman
@lazyironman

Posts: 9
Joined: Nov 01, 2017

First appointment at Mayo with Medical Genetics

Posted by @lazyironman, Oct 31, 2017

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.

REPLY

@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.

@colleenyoung

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.

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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!

@colleenyoung

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.

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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/

Liked by lazyironman

@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

@kariulrich

@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.

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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

@dawn_giacabazi

@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

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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!

@kariulrich

@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.

Jump to this post

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/

Liked by lazyironman

@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

Liked by lazyironman

@dawn_giacabazi

@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

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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.

@kdubois

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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Hi @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!

@kdubois

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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@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.

I 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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