Oh goodness, sorry I created all this! I want to start by saying that my mother and I have both very much been pleased with Dr. L. He's very young, but very kind and interested in helping. A scientist for sure. I like to think that if I end up with tests that can prove I have a mutation that Dr. L might be willing to treat me. It probably wouldn't be his cup of tea, but at least he knows SM and if the treatments are the same..... who knows. He's within an hour drive of my home and 40 minutes of work.

I am completely new to mast cell anything. I simply came upon Dr. Diana's info out of TX and decided I should look into it. Especially since I have severe asthma, terrible environmental allergies, autoimmune thyroid (new as of this week), autoimmune pituitary, celiac disease, and interstitial cystitis. For family history: My mother had endometriosis, my aunt sister and grandmother have had ovary cysts, and I kid you not - Every single female on my mother's side has had extensive medical issues mostly revolving around the endocrine system, heart, and colon. And we all have migraine headaches. We all pretty much seem to have a mystery illness and years and years later nobody has figured it out for any of us.  I feel that we likely all have Ehlers Danlos Syndrome. I know that myself, sister, and mother do. I know heart and colon issues come along with that, but something very serious is going wrong in my family and I am determined to figure out what it is. I am personally finding that I don't know my own symptoms anymore because I'm used to feeling this crappy all of the time. Feeling bad is my normal.

All of that aside, I was sure to let Dr. L know that I am mast cell ignorant. He acknowledges that some of my issues have been linked with mast cells, but to him I simply do not look the part of mast cell or ehlers danlos syndrome. I have learned why that is on both counts. He studied in the NIH and apparently SM is what they work with. He didn't seem interested in my flushing and was looking for my throat closing up. I did not know all of the symptoms of Anaphylaxis, but even if I had it wouldn't have mattered. My mother and I both discussed how oddly my blood pressure and pulse were acting as well as my body temperature at the last appointment. I do not have the symptoms he is looking for. My grandmother does, but not myself. He told me a few times that mast cell disorder is a very serious and severe illness and that people with it can almost die every day of their lives.

He also studied Marfan's. I am probably the farthest thing from a Marfan's look that there is. I am short (5'0")and chunky (overweight), I am not tall, skinny, lanky, and pale. My chest does not cave in. I am EDS - Hypermobility and he admits he is not familiar with that diag and does not intend to dispute my doctor's diagnosis or attempt to treat it. He has advised that I do not tell doctors that I have EDS because he has seen too many patients end up on narcotics that basically ruin their lives. I can appreciate his trying to save me from that. My impression though is that he does not believe I have EDS because his idea of EDS is again very severe extreme illness. I have the least severe variation of EDS that exists.

Dr. L does not appear to believe there is more than one mast cell disorder. Now that I know more about this I have taken the steps to get as much testing completed as I can and will then attempt to get an appointment with Dr. Afrin. He's close and seems to be very interested in finding an answer. I would love to find that I do not have a mast cell illness, but I want to be sure one way or the other. If I do not, then I keep searching for whatever it is that is destroying our bodies.

As far as testing goes, Dr. L reviewed previous testing from my other doctors (allergy skin, allergy blood) and performed his own environmental allergy test. His team seemed to be as shocked by my allergy skin testing as the previous allergy team that tested me a few years ago. I continued reacting so much that they did a recount on some of the spots. 6 days later I still have one reactive spot on my back from the skin test. I wish I knew which one it was. Whatever it is, I need to avoid it at all costs. He said he feels no need to continue further testing at this time. I am not one to fight or argue with doctors, so I will have the testing performed elsewhere and if I find something he might acknowledge I may contact him in the future.

Jewels,
I have seen Dr Afrin twice and he diagnosed me with MCAS affter a local "expert" told me I didn't have a mast cell disorder after reviewing my low trypase and my skin biopsy.  

I first saw Dr Afrin in May and at that time, he didn't want any additional mediator testing done beforehand, as he preferred to run it in his own lab, where he had a better shot of ensuring the samples were kept chilled from collection through testing.  You may want to call and see if that changed at all.  

Feel free to send me a PM if you have any specific questions reagrding my experience.

Lyn

Thank you guys so much!  My family doctor's office is in the process of sending my referral and medical records to Dr. Afrin and I am in the process of contacting all of the specialists I have seen to send my records. My family doctor appeared to be overwhelmed by the information I provided her today, but willing to treat me if she needs to. I have talked to Dr. L's office today and they believe that if I can find proof of a mast cell mutation that he will be willing to work with Dr. Afrin to treat me.

Hi Goldie,

Glad you're back, but sorry this has been a confusing process for you!  MCAD is an umbrella term, and it can include people with abnormal test results and those with symptoms, but normal tests.

The important thing now is that you're being tested and getting some answers.  That will lead to tweaking your meds so that you can feel better.  If you don't mind saying, who are the mast cell doctors that you've seen and where are they?

Hope getting to the bottom of this will give you some peace of mind.