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sjoh197

My Vanderbilt Experience

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I waited six months to go to Vanderbilt. My flight to Nashville was uneventful. I was able to get an aisle seat which I prefer, since my legs often ache on planes and it’s nice to be able to stretch them into the aisle a few times. When I landed I took an Uber to a hotel right next to the stadium at Vanderbilt. The close proximity of the hotel to the med center was incredibly helpful. The next morning, I wasn’t allowed to eat before testing and the coffee and breakfast downstairs at the hotel smelled particularly good. I grabbed my bags and headed to the heart and vascular clinic. I checked in and sat down in a crowded waiting room. I was the youngest person there by about 30 years. Most of the people in the clinic looked to be in their 60’s or 70’s. The people next to me were complaining about millennials and how “their generation was so much better because their parents beat them”. Yes, they actually said that.  Yes, I started laughing. No, they didn’t appreciate me laughing. I waited for about 30-40 minutes. I had shown up early, so I wasn’t surprised. My first appointment was for autonomic testing. I went back to a room where I lied down on a table, had a bunch of electrodes connected to my chest, and then did a heavy breathing test, a valsava test, and a tilt table test. Thankfully it was only a 10-minute tilt, so I didn’t get particularly sick. All of this took about an hour.

After this, I was ushered back out into the waiting room to wait for my appointment with the doctor. All of the complaining baby boomers were gone at this point and were replaced by happier retirees. The doctor was pleasant. I could tell that he was stressed. People came into the room to ask him questions more than once, and he had to step outside halfway through to deal with something. Having had many doctors at this point, and being a researcher myself, I saw this for the stressful busyness that it was, not rudeness. I felt as though a lot of the people there were stressed.

The doctor started by asking me about my “story”. How did I get here, what made me start going to a doctor. Most POTS patients have had a long history of bouncing around to different doctors. So had I. After reviewing the various doctors I had seen over the years, we went over my symptoms. Before I came, I had printed out a list of my symptoms that I had made through time. I included a few pictures as well. This was very helpful, since it’s easy to get flustered and forget to mention or remember certain things, even if they affect your daily life.

He started looking at my joints, noting that some of them were hypermobile and I had symptoms of joint hypermobility spectrum disorder. He eventually said that I didn’t seem to be quite at the Ehlers Danlos side of the spectrum, but that he wanted me to see a geneticist. I will have to return for that visit in the near future.

After looking through my symptoms and talking with me, he was also concerned that I might have mast cell activation syndrome. They did two tests, a blood test for serum tryptase and a 24-hr  n-methylhistamine analysis. My serum tryptase came back normal within 48 hours, but the 24-hr n-methylhistamine test will take a few weeks to return since it had to be sent to the Mayo clinic.

After the clinical visit, I participated in a 24 hour research study. This involved me being hooked up to an EKG halter. My rate was monitored continuously and my blood pressure was taken every 30 minutes. The room that I was put in overnight was large. I was told that it was actually designed as an emergency contagious disease (think Ebola) room that could be completely destroyed afterwards. There was a bed, a few recliner chairs, a table and a tv. I was fed a hospital dinner, having not eaten for 24 hours. I don’t know if I was just starving but the food actually wasn’t that bad. Much better than I had expected. I had planned on spending the evening using my laptop, but I felt rather unwell after the stress of travelling and being off my medications so I ended up going to sleep very early. The next morning involved tests while laying, sitting, and standing, while my heart rate and blood pressure were taken at short intervals. I was able to stand for 25 minutes before I started dry-heaving and almost lost all hearing, I was going to black out. They quickly laid me back down but I was already drenched in sweat and continued to feel nauseated for hours. This was certainly the worst that I felt the entire time I was there. Around lunch we went upstairs to do another round of research autonomic testing. It was relatively similar to the testing done the previous day, with a few extras including putting my hand in an ice-bath and having me breath in this bag of inert gases and then measuring my breathing output. Finally, they gave me IV doses of short lived medications to test my heart and blood pressure responses to them. This part took about an hour. I think I actually may have fallen asleep at one point, since I was pretty exhausted. It wasn’t painful or particularly uncomfortable. The very last dose gave me a short tingly flush and that was it. They were very sure to indicate that I could stop participating at any time.

Afterwards, I went back downstairs for about half an hour and then I was free to go. Rather than trying to fly out immediately, I had booked a flight for the next day, so I went back to the same hotel for another night. I had dinner at a local restaurant called Fido’s. It was pretty good, but I was feeling so nauseated that I only at half of it. The next morning, I had breakfast at the hotel and had the same problem. It took 3-4 days before my stomach settled back down. My arm felt like it had been on the losing end of a wrestling match for a few days. Other than a delay, my flight home was equally uneventful as the one there. By the time I got home, some of my test results had already started posting on Vanderbilt’s online portal, although we had already discussed them in person. I took a few ‘surveys’ given to me by the research team asking about how I rate my symptoms and day-to-day activities. I will have to go back, but I’m not sure when that will be just yet. I’m waiting to hear back from the geneticist. And of course the MCAS results. Overall, I was happy that I was able to go. They were obviously quite knowledgeable about POTS and also other disorders that can be associated with POTS. Everyone was friendly, although stressed. The facilities were nice, and I did feel as though I was being listened to and taken seriously. 

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2 hours ago, Derek1987 said:

What does a geneticist do? Keep me posted. Sounds like I really need to motivate myself to go there. 

Is a person who studies genetics.

https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Quote

 

Mutations in at least 19 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the COL5A1 or COL5A2 gene, or rarely in the COL1A1 gene, can cause the classical type. Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type (although in most people with this type, the cause is unknown). The cardiac-valvular type and some cases of the arthrochalasia type are caused by COL1A2 gene mutations; mutations in the COL1A1 gene have also been found in people with the arthrochalasia type. Most cases of the vascular type result from mutations in the COL3A1 gene, although rarely this type is caused by certain COL1A1 gene mutations. The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. PLOD1 or FKBP14 gene mutations result in the kyphoscoliotic type. Other rare forms of Ehlers-Danlos syndrome result from mutations in other genes.

Some of the genes associated with the Ehlers-Danlos syndromes, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, FKBP14, PLOD1, and TNXB, provide instructions for making proteins that process, fold, or interact with collagen. Mutations in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of the Ehlers-Danlos syndromes.

Some genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen. For many of these genes, it is not clear how mutations lead to hypermobility, elastic skin, and other features of these conditions.

 

https://ghr.nlm.nih.gov/primer

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@sjoh197 - Thank you for the detailed story, it sounds that you already found some answers. I have a few questions: Since you participated in research - was the visit paid for by insurance or was it covered by Vandy? -- Also: once all your tests come back - will you go back for a follow up to discuss treatment options? I was told that they are big in diagnostics but not so much in follow-up treatment - is that true?

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5 hours ago, Pistol said:

@sjoh197 - Thank you for the detailed story, it sounds that you already found some answers. I have a few questions: Since you participated in research - was the visit paid for by insurance or was it covered by Vandy? -- Also: once all your tests come back - will you go back for a follow up to discuss treatment options? I was told that they are big in diagnostics but not so much in follow-up treatment - is that true?

The clinical visit and testing was covered by my insurance. My overnight hospital stay and testing was covered by Vandy, since it was for research. I can't say for sure, since I've never been before, but I felt that participating in the research gave them a more vested interest in me, but also gave me more time to talk with them and learn things than a simple clinic visit would. 

Also, since I have to return for the geneticist and an orthopedic specialist, the dr. wants me to come back for a follow up. I had read that they aren't big on follow ups, but after going, I see two things... One, they are busy busy busy. I think that they will be more likely to follow up on things they think they can actually fix. And two, there were a lot of young residents. I think that POTS and other similar problems are gaining more interest and the available manpower to actually have follow up care will improve through time. 

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Thanks for sharing your experience, I am glad you have been able to access what sounds like detailed testing. 

Was a blood volume test done? That is something I am really interested in. It is not available where I live in the UK. 

Also did they prescribe/recommend anything in the way of symptom relief?

B xxx

 

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1 hour ago, bombsh3ll said:

Thanks for sharing your experience, I am glad you have been able to access what sounds like detailed testing. 

Was a blood volume test done? That is something I am really interested in. It is not available where I live in the UK. 

Also did they prescribe/recommend anything in the way of symptom relief?

B xxx

 

I didn't have a blood volume test, I don't think. Although I had such a barrage of testing, that it was hard to actually keep track. I had already had autonomic testing before coming here, and have had multiple prescriptions to treat symptoms for years, mostly pieced together by neurologists and pain management docs. They changed my beta blocker to methyldopa because they were concerned about the mast cell thing. I think they are waiting on that to make any other decisions. 

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