Research, My Family and Tryptase Mutation

A few years ago, when I was initially seeing my mast cell specialist, she mentioned a physician at the NIH who was doing a study on patients “like me”. He was doing research on families who were diagnosed with Ehlers-Danlos Syndrome (EDS), had mast cell disorders of some sort and symptoms of Dysautonomia, a malfunction of the autonomic nervous system. She encouraged me to contact him to join the study.

Dr. Joshua Milner spent quite a while on the phone with me, inquiring about other family members as well. He was satisfied that we fit the criteria. I received kits for blood work and packets of paperwork to be filled out and returned. He was interested in studying families who had the same symptoms in multiple family members. Our family sure fit that description. He also stated that there was almost always at least one family member much sicker that the rest… and yes, that was me.

Fast forward about three years and only a couple of sporadic emails between us. I received a call from Dr. Milner advising me that he had found a mutation.
This duplicate tryptase mutation was the culprit causing me to be so sick. Initially, he told me he thought it was causing the mast cell symptoms, plus EDS and the Dysautonomia symptoms too.

But here is where it got a little complicated. I am the only member of my family with the mutation. Yet all the others have EDS. They were diagnosed by geneticists experienced in connective tissue disorders and some (my adult kids) have been diagnosed by 3 separate geneticists over the years.

So now, we are back to square one with the tryptase mutation. It is definitely causing many symptoms, especially mast cell, but EDS may be a totally separate mutation. Dr. Milner now thinks I may be dealing with two mutations; one that my entire family has too, plus the duplicate tryptase mutation.

I met this news with excitement! Identifying the exact mutation opens up avenues for researching ways to block the activity of the tryptase. This is Dr. Milner next endeavor and I await with enthusiasm.

My upcoming blog posts will be a comprehensive, detailed explanation of some protocols that I will be following. I met an amazing woman, Christina Maldonado, at the TMS conference who also has the gene mutation. She followed these protocols and has changed her life. She has discussed them with Dr. Milner as I have, so I am moving forward. Stay tuned…

Hopefully, these crazy vitals will improve…vitals

Getting Brave: Trip Number Two

Bolstered by the relative success of my trip to the TMS conference in Orlando last month, I was getting brave and decided to take trip number two with Brian. We planned a long weekend. Some things were spectacular and again, I learned several lessons about traveling with EDS, MCAS and Dysautonomia that will make the next trip better.

Brian had tickets to see Theresa Caputo, the Long Island medium, in Syracuse. No matter what your belief system is, this woman is amazing. There were a couple of thousand people in the old and beautiful theater. Each reading she did was more incredible than the one before it. I premedicated and luckily, no one around me wore perfume, so I did not need to wear my Vogmask, but I was ready.Caputo theater

Originally planning to stay in the Finger Lakes/Western NY area for some leaf peeping, the forecast was rain all weekend, so we headed east to the Adirondacks. The ride was magnificent with trees showing off their glorious colors.Adirondacks

We first stayed in Lake Placid. My first lesson is always research ahead to ensure there are restaurants that can accommodate your food preferences. I could find only one in Lake Placid… Lisa G’s.  They cook everything from scratch, so they are willing to leave things out that I cannot tolerate. Our hotel, that was crazy expensive for a tiny room, had no microwave and only a tiny fridge with no freezer compartment, so buying food to make for myself was out.

Next, we drove to Plattsburgh. The hotel was wonderful. We had a suite with kitchenette, so we could have cooked our meals there. Not one restaurant or breakfast place in Lake Placid or Plattsburgh had gluten-free foods. Not by Google search anyway. Maybe the locals know of them, but a traveler is out of luck.

So here are my lessons:

  1. Bring more of my own safe food. Even though I wanted a “vacation” without cooking, I need to have food that doesn’t make me sick.
  2. Although it is fun to be spontaneous and just go wherever we decide last minute, that doesn’t work when you have disorders that take such careful planning. I will research the hotels and restaurants much more thoroughly next time and book a suite with a kitchenette.
  3. I will remember to bring my pain relief helpers next time because pain can really dampen time away. I will pack my Epsom salts, TENS unit and myofascial release tools.

Despite some bumpy times, Brian and I had a great time. We rode through some of most breathtaking scenery in the Adirondacks. We spent four full days together, talking, laughing and enjoying each other’s company. For those of you who don’t know, Brian travels a lot for business, so time together is precious.

Here we are savoring an old fashioned A & W root beer float. Yes! I had one too. I had to premedicate in order to enjoy the forbidden treat, but it was oh so good!A & W Root Beer Floats

And once again, I had to spend time recovering for a few days after my return, but getting back to the real world again has been so exciting. Even if I can only do it in little snippets and must recover for days after, it is worth it. Hugs to you all!Lake Placid

Getting Out of the House

Twelve days ago, I went on a very exciting trip. I’m getting out of the house! More about that in after I tell you why it’s so thrilling to me.

For the past two years, I have been mostly housebound. I have not been able to drive and only go out when my husband, Brian, or one of my adult kids take me somewhere. But even that is always a gamble, because if I am exposed to an odor or perfume, it may cause my throat to close. The Mastocytosis Society has an informative pamphlet for patients to hand out to family, friends or health care professionals not familiar with mast cell disorders.

The following comes directly from the Emergency Care for Patients With Mast Cell Disorders pamphlet:

“COMMON TRIGGERS OF MAST CELL REACTIONS AND ANAPHYLAXIS

Triggers are unique to each patient. If a patient tells you that a certain drug, substance or environmental factor is a mast cell trigger for them, believe the patient even if it does not seem plausible. Triggers can include, but are not limited to:

> Unknown trigger- Idiopathic anaphylaxis

> Hymenoptera venom and other venoms such as ant, snake, jellyfish and insect

> Medications including, but not limited to morphine and derivatives, IV Vancomycin, aspirin, NSAIDS; can be tolerated in some patients. Proceed with caution.

> Anesthesia drugs (succinylcholine, D-tubocurarine, gallamine, decamethonium) and radiocontrast dyes

> Food or beverage, including alcohol

> Emotional stress, anxiety and fatigue

> Physical stress, e.g., heat, cold, change in temperature

> Friction of skin lesions or vibration

> Exercise

> Latex, odors/perfumes”

Besides the issue with triggers, I have been struggling with cardiac problems, most likely from my Dysautonomia. I am blessed to have some of the best specialists at Brigham and Women’s in Boston. Even though I live near Albany, NY, I don’t mind the trek to Boston (I should say my husband doesn’t mind taking me) to see what I believe are some of the country’s best. My heart rate has been in the 30’s and 40’s and my blood pressure in the 80’s and low 90’s. Not when I’m reactive, but all the time. Standing for any length of time is tough and walking is tougher yet.

So here comes my trip… The Mastocytosis Society was holding it’s conference in Orlando, Florida. I am one of 3 RNs that volunteer our time helping patients by answering questions online, by phone and coordinating care. One of us was too sick to go, so I was asked to help. How could I say no?

Typically, Brian travels with me but he had his work conference in another part of the country. So I put a plan in place to be successful. I can’t say I wasn’t a little apprehensive, but I was determined.

  1. Anytime I had to be around other non-mast cell people, I would wear my N-95 mask. I dislike wearing it, but it is protective. Mast cell peeps know not to wear any fragrances at all.
  2. I utilized the wheelchair service at the airport because I knew I could not stand for any length of time. I had to let go of the “gee, you don’t look sick” concern.
  3. I packed my multitude of medications in my backpack with my ER Protocol signed by my physician. No issues going through security.
  4. I packed my “safe food” in my checked luggage.
  5. I premeditated an hour before flight and meditated right before we boarded.

During the conference, that was packed full of amazing information from physicians and other professionals, I had to remember to rest. The days were long and I am not used to going non-stop for 14 hours. I did fit in meditation throughout.

It was a fabulous experience, meeting other mast cell warriors, sharing knowledge and just getting out of the house! Never give up and think this is all it will ever be.

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