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Today is Rare Disease Day 2023
Specialist Appointment
Today was a follow-up appointment with my Immunologist. The doctor discussed all the blood and urine tests that I had end of last year. The tryptase levels were normal and the other tests were normal too. Then we discussed what was next.
He told me that to find out if I really have Mast Cell Activation Syndrome I need to have my tryptase levels within 3 hours of a severe allergic reaction. My body doesn’t make too many mast cells, as in Mastocytosis. The question is, do my mast cells go crazy when I experience reactions to foods or other reasons.
I haven’t had a time to try this in the last three months, and don’t know when it will happen again. These events do come, so I just need to remember to get the test done at the ER afterwards.
After the exam, I went to the lab to have a blood test to see if I’m allergic to dogs. I told the doctor that I wouldn’t get rid of my dog, even if I’m allergic. He did say that if I was allergic, there were things we could do to deal with the symptoms. I certainly don’t sneeze around dogs, but sometimes itch a lot.
Embarrassment
This was the first time I’ve been out in public since my tremors and essential myoclonus (jerks) started. I could tell by the huge number of people in the waiting room that I would be sitting there a while. After a few minutes I had some small jerks, like I had experienced in the patient room. Then I had two very large jerks and the lady sitting to the right really noticed.
The next thing I knew she put on her jacket and turned away from me. Maybe she thought I was going to give her some disease. It’s just that way. People don’t want to see disabled people or people with strange looks or actions. They would be comfortable if everyone was “normal”.
Up to this point in life, all my illnesses had been invisible. This was the first time I had very visible symptoms and it made me uncomfortable, too. But, I was fine. I didn’t worry or cry or anything. I guess that this is how it’s going to be with me from now on. I’ve never had it when I was walking around. So, if I can stay upright I could conceal this better.
Rare Disease Day
This is Rare Disease Day 2023 and I always think about having a rare disease. Essential tremors and jerks are not a rare disease. Sjogren’s is not a rare disease, and neither are osteoarthritis, osteoporosis, scoliosis, MCAS, or others. But, I do have Ehlers Danlos Syndrome hypermobility. This is classified as a rare disease.
I have Left Bundle Branch Block. It’s not rare alone, but having it can make me more apt to have a massive heart attack. Right now, I’m taking Metoprolol to control the heart rhythm. If it ever stops working, I can have a pacemaker installed. I feel like my dad, who had a pacemaker, because he had the same problem.
He also later had a Defibrillator added because he was in Heart Failure. I hope that I don’t end up with one of those. Of course, he didn’t have all the same secondary illnesses. We both took many strong medications and the amount of various pills could affect heart rhythm (I suppose).
It would be so helpful if I could get a DNA test that could make it more clear about my genetics. I’ve heard that many patients can find superior knowledge about their bodies and health than a blood test.
As part of Rare Disease Day and Rare Disease Month, Nebula Genome is offering discounts on their DNA tests:
Rare Disease Day Awareness: Get the Deep Test Kit for $149 through 3/3.
Rare Disease Day Awareness: Get the Ultra Deep Test Kit for $649 through 3/3.
Extra Savings to lower your price even more:
$20 off Nebula Genomics Deep Whole Genome Test Kit with the code AFFILIATE20 through 12/31. Use discount code: AFFILIATE20
$25 off Nebula Genomics ULTRA Deep Whole Genome Test Kit with the code AFFILIATE25 through 12/31. Use discount code: AFFILIATE25
@2023, copyright Lisa Ehrman
Disclaimer: I’m not a medical expert. This post contains my opinions and experiences and is not meant to be taken as medical advice. If you have a medical concern, please consult your personal physician.
I saw something about Mast Cell Activation Syndrome and Ehlers Danlos Syndrome on a tv show called Mystery Diagnosis. It is awful to have so many things wrong. I sure hope you feel better. I was just diagnosed with lymphoma/leukemia and this is after trying to recover from thyroid cancer. Life just stinks sometimes.
Ehlers Danlos Syndrome often comes with a lot of other conditions. I think I saw that episode, but the one I saw was a few years ago. I’m so very sorry to hear about your new diagnosis. I hope and pray that your body can be strong and fight off the lymphoma/leukemia.