Yay For Open-Minded Doctors -- Mast Cell Testing Ordered

[Lethargic Smiles]

I just wanted to share something. I started reading about Mast Cell issues and wondered if it could be an answer for me. It was disappointing to see how hard getting diagnosed can be. Going to the east coast to see a MCAD specialist isn't really an option for me financially. I'd probably self-treat before I would do that. I e-mailed my immunologist (technically the physicians assistant) who I saw constantly prior to my POTS diagnosis.

She is the person who, despite seeing me for 2 years, me always getting worse, me always having negative tests, me always having strange symptoms, never closed her eyes. She kept them open and one day realized she had never inquired about my tachycardia she sees on the chart each visit. I said I had though it was normal. She sent me off to a cardiologist, the first one was awful, but with the second one, I was finally diagnosed with POTS.

I hadn't gotten back in touch with her because I moved 2 hours away and now had a POTS diagnosis. I sent her a thank you letter for always keeping an open mind and open eyes and inquired about MCAD testing. Here's what I got back:

So good to hear from you! I am glad to hear you have found at least a few answers. You have had quite a journey! Thank you for your kind card and for sharing the information you have found. I do enjoy getting all the details and the links to learn more. You have become an expert on POTS, and, as I'm sure you've found, know more about it than your clinicians. Kudos to you for taking charge of your healthcare. Your blog is wonderful, and I'm sure a help to others who read it.

I would be happy to order the lab testing you mentioned: the serum tryptase, 24hr urine prostaglandin D2, and 24hr urine n-methylhistamine. I can fax the order to the lab. You could then go to the lab to get the 24hr urine container that they are going to want you to use. Then return it to the lab for the samples to be sent to Mayo. Between all of us, we should be able to get the labs to Mayo in the right condition. I will state the temperature requirements on the order, you remind them when you take the specimen back, and Mayo makes sure that the specimen is received in the right condition for the test being run.

I think that you could choose any Quest lab close to you. Just let me know which one you would like the order faxed to.
I hope that this helps, and that you see improvement each day until you are able to do any activities you wish on the spur of the moment.

Thanks for sharing.

I just thought I'd share this positive doctor interaction since we tend to have so many negative ones.

If anyone has any tips on MCAD testing, please share! I'm going to stop taking NyQuil at night and Singulair during the day prior to the test.

[Christy_D]

The urine must be kept cold at all times. Even the container should be refrigerated before using it. When we took it to the lab for drop off, we had to keep it on ice. Once at the lab, Dr Afrin told us to make sure it was refrigerated immediately, so we stressed to the lab tech the importance of refrigerating it immediately.

[Lethargic Smiles]

Thank for the tip. I am planning on being a full-blown nut job about this with the lab and going as far and writing it out for them on a little piece of paper (taped to container) that what they are testing for will be eliminated/disappear from the urine if it is left at room temperature. I don't care if they think I am crazy -- us POTSies tend to be used to it anyway.

[Guest Hanice]

Wow what a wonderful doctor! Sounds amazing! Lets see if this gives you any answers!! Keep us posted please.

[bjbens]

Can I ask what symptoms you're having that have caused you to suspect MCAD? It's something I've wondered about as well, but haven't moved forward on. And congratulations on connecting with an astute and very kind medical professional!!

[Lethargic Smiles]

Hanice -- I will definitely give an update, thank you for caring! I am going to do the 24 hour collection Sunday to Monday, so by the end of the month, I should have some answers! Whether I have it or not, I will be happy to cross this testing off my list as having been looked into.

bjbens -- I initially dismissed mast cell issues as a possibility for me because I do not experience flushing, rashes, or really any skin issues. However, I have so many of the symptoms I just had to investigate. I'm getting my POTS symptoms such as nausea, lightheadedness, pre-syncope, really under control with biofeedback (I went to The POTS Treatment Center), but a separate set of symptoms (just now realizing they're separate) persist. I believe if I find the root cause of why my lymph nodes swell (my earliest symptom) I will find my culprit of all of this.

I sent Dr. Afrin an e-mail asking for his primer, he sent back this.

Although I previously had been distributing a very informally written "MCAS primer" (for lack of any other published written guidance regarding the diagnostic approach to mast cell activation syndrome), my primer has now been supplanted by a comprehensive review chapter on MCAS I published in May in a new book on certain aspects of mast cell biology and disease. The primer is freely available to the public at the publisher's website at https://www.novapublishers.com/catalog/product_info.php?products_id=42603.

Best of luck...

I've only gotten part way through it (77 pages!), but things that made me decide to lay out my case and ask for testing:

• severe fatigue
• lifetime history of sinus issues
• chronic infections my whole life
• tooth decay despite excellent oral hygiene
• upper left quadrant pain
• enlarged spleen (past symptom)
• chronic throat pain
• chronic enlarged lymph nodes in throat and armpits
• not being able to take a really deep breath (PGD2 is a bronchoconstrictor -- 10 times more so than histamine)
• hair loss
• strange wound healing/scarring more than would be expected
• most POTS symptoms are also symptoms of MCAS
• 2 endoscopies/1 colonoscopy showing gastritis even when no clear cause (although in 1 case I was drinking a ton of tomato juice on an empty stomach -- bad idea)
• I am diagnosed with hyperadrenergic type of POTS and EDS runs in my family, I believe I'm about to be diagnosed with it
• insomnia despite severe fatigue
• low-grade fevers (99.9-100.3)
• increasing sensitivities, for example I've taken the "sulfa" class of antibiotics my whole life. Recently I took it, and my tongue swelled up HUGE and after it went down, was sore for days.

There's more symptoms, but that is the gist of it.

[Christy_D]

If they did any biopsies from your endoscopy your doctor can have them stained checking the number of mast cells. I had my sons sent from Cleveland to Dr Afrin in SC. They came back fine but it is another test that can be done.

[Lethargic Smiles]

Christy -- Thanks for the suggestion. They did a stomach and very top of my small intestine biopsy. Do they save the biopsies and if they do, do you know about how long? Is that something I should have checked no matter what or depending on my results in your opinion?

Another question for you Christy, how did the lab react to you reminding them about the refrigeration? I know they'll have instructions right there saying the test needs to be delivered frozen and the other cooled, but I just really want them to understand every single minute at room temperature is detrimental to testing. I'm considering taping/rubber banding a note to the collection container reminding about the refrigeration. I don't want the person in the lab to pour out the urine into the the smaller collection container, then set it out somewhere "waiting" to be put in the fridge.

[davecom]

Thanks for posting about this and the detail in your replies. Keep us posted.

[Christy_D]

Sarah,

1. My son had biopsies done in 2010 in Cleveland. They still had the slides in 2012. I had to fill out a form and had Cleveland send them to MUSC. My son's slides did not show too many mast cells. It is just another test to figure out what is going on with the mast cells. Dr Afrin was glad he had access to those slides. So I guess it is a good idea if you can get them tested.

2. The lab tech wasn't offended, but he worked on the same floor as Dr Afrin so I'm sure he was used to patients watching him put the samples in the refrigerator since the doctor is the one who instructed us to do so.

Christy

[Guest Hanice]

I really think I might have MCAS too. I have a bunch of those symptoms.

[Lethargic Smiles]

Wow wonderful news about the lab.

My fiancé went to pick up the container for me. When the receptionist told the lab techs my name, he overheard them saying, "it's the one that needs sent frozen and kept chilled -- So-and-so was on the phone a ton yesterday about it." They then made sure my fiancé understood the importance of me keeping the container in the fridge during collection and transporting it in a cooler.

This is the Quest Diagnostics lab in Yorkville IL. My doctor is having me go directly through them rather than mess with transportation ourselves.

[Guest Hanice]

That's great! I can't wait for your results, keep updating us. Your fiancee sounds great as well as your doctor.

[Lethargic Smiles]

I got back the results and they were all in normal ranges. (N-methylhistamine: 157mcg (30-200), tryptase: 3ng (2-10), PGD2: 159ng (100-280)). I didn't know to have heparin checked, so that was not checked. There was a creatine check to make sure it wasn't too diluted of a sample and that was good as well. I was never 100% convinced I have MCAD, however I am 100% convinced I have some sort of immune system problem based off of my symptoms. When I read Dr. Afrin's papers I could check a lot of the boxes as I mentioned above.

I wanted my body to be doing its own natural thing at the time of testing, no matter what research has shown does or does not effect the test, so I'd never wonder "What if I had ______." Other than Midodrine, my beta blocker, Adderall, birth control, and Ambien, I didn't take anything. That left out several supplements, my nightly antihistamine, and Singulair. A few days before the test, I ate a little bit of foods I'm intolerant to just to try and make sure my system was revved up. It felt so strange to be TRYING to give my body a hard time.

I kept the urine in the fridge. If I added a large volume to it, I'd set it on top of a giant ice pack in the fridge to make it cool down more quickly. I transported it on ice.

Anyways, there are a two things that make me second guess if the tests are right.

1) My lymph nodes (the main symptom I think would signify MCAD flare) actually behaved themselves!

2) The nurse was really flustered by the unusual tests. I wish I'd printed out the instructions from the lab's website to hand to her. At one point she said a sample that I know should be frozen, could be room temperature. She had the urine at room temperature for the 15 minutes or so I was back there and assured me she was about to put the urine in their containers and then in the fridge/freezer. I hope that is what happened. I felt awful and wanted to get out of there (it was an hour drive), so I didn't stay to watch.

Anyways, I'm just leaving it for now. My doctor said she'll re-order testing anytime so perhaps, when I get what could be a MCAD flare, I'll have her do that. In the meantime, I'll get a 24 hour urine collection container to have so I don't have to travel to pick it up! Thanks everyone for your input throughout this!

[badhbt]

HI Jackie,

I am curious, what foods do you have problems with?

I know it can be frustrating to get back normal labs. I am always shocked that I can feel this crappy but have award winning labs!

[Lethargic Smiles]

I am allergic to gluten. I am severely intolerant to egg and dairy, moderately to soy, and mildly to poultry.

I do heart rate variability training and if I have been "glutened" it shows. There are many spikes in my heart rate, I won't be able to get nice, smooth waves (this of course can also occur on days I haven't been glutened), and the variability window is small. I thought it was interesting. When the biofeedback doctor saw and asked what had happened since she saw me the previous day (a restaurant glutened me), she seemed impressed with the powerful effect gluten had on my body.

I have hated the goat cheeses I have tried, but some people who are unable to handle the type of casein in cow milk, can handle the type in sheep/goat cheese. The sheep/goat cheese has the same type of casein as breast milk. I also read pastuerization can destroy components of the milk helpful to digestion. Desperate for some cheese and after I got over the idea of "sheep cheese", I tried out some unpasteurized sheep cheese. I didn't look 3 months pregnant like I do with cow milk and there was no feeling of fullness. I bloated a tad, but not enough to bother me. It also backed my GI system up a bit. I wasn't able to breastfeed either despite my Mom trying to eliminate everything she could think of, so it makes sense my body wouldn't tolerate dairy from any other mammal either. With this experiment, I concluded when I just have to have cheese, unpasteurized sheep cheese is better than pasteurized cow cheese, but in general, I am someone whose body would prefer no dairy! Anyways, sorry for this ramble. Just thought I'd share my adventures with cheese!

I'm with ya on the wonderful labs. I don't want to have a disease, I just want to know what whatever disease I have going on is. If the labs were done correctly, I just try and be grateful for having that aspect of my health and check another thing off the list!