December and January Updates

I know I have been missing for quite a while so I decided to give some December and January updates. I have been super busy, mostly with family. December 13th, my 87 year old mom fell and fractured her hip. She was shoveling snow, yes shoveling! She is a feisty, headstrong woman who is totally independent. She was cleaning the snow off the top of her car (yes, she still drives) and didn’t want to leave the snow that she removed from her car onto the parking lot for someone else to fall. So she took a foldable shovel that we did not know she had and started shoveling it out of the way and slipped.

She required surgery and subacute rehab. As many of you know, I have not been able to drive in over a year due to cardiac issues but luckily, my husband was on vacation for two weeks, so he drove me back and forth, first to Albany Medical Center, only 20-25 minutes away each day, then to her rehab that is 50-60 minutes away, depending on traffic. She is doing amazingly well. I don’t know why I’m surprised. She’s a tough cookie! Here she is practicing getting in and out of a car in rehab. Mom in car in rehab

Now that Brian is back to work, my twin sister is doing all of the daily visits, since I can only get down there on weekends when Brian returns from his business trips. Soon, she’ll be going home because she is making remarkable progress.

Then I had several medical appointments in Boston at Brigham and Women’s. I will update about those appointments in an upcoming post because I will discuss information I learned from some testing done. The trek to Boston is always an all day deal, a three to three and a half hour drive each way, several hours at the appointment and a few stops on the Mass Pike. I’m always wiped out when we get home.

The very exciting update that I have is the new addition to our family. Since our beloved dog, Buddy died 7 months ago, I have been greatly missing him, his calming dog energy and the unconditional love only a dog can provide. I am in the process of attempting to get a balance service dog but the application process is difficult and the wait is long. A 2-3 year wait is typical for balance dogs.

So with the advice and help of a friend, Justine Blair Carroll, who owns Dharma of Dog, a dog training and behavior service in Saratoga, NY, we contacted Perfect Pets Rescue, Inc. There we found our sweet Twinkle, a senior dog who had been in a kill shelter and scheduled to be killed that day until someone saw the twinkle in her eye and took her out for foster care until she could be adopted.

I knew as soon as I saw her on the website that she was ours. I saw the twinkle in her eyes too! I had no intention of getting a senior dog with the pain of losing Buddy so fresh. But there was something so special about Twinkle. And she is!!!

We picked her up Friday night and it’s only Tuesday and she has acclimated into our lifestyle so well. It’s as though she has always been here. We are smitten with her. Love at first site for us and her.

Even if you are not a dog person, it’s tough not to smile at these pics.Twinkle

Twinkle sleeping
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Making Homemade Yogurt

As I was reading about the Special Carbohydrate Diet (SCD), one of the most essential things that Elaine Gottschall discussed was the importance of homemade yogurt. Initially, that concerned me because I have been dairy free for over 2 years. I only allowed myself occasional fresh mozzarella, which is the one cheese my mast cell specialist okayed. But I noticed a rash when I ate it more than once every couple of weeks, so I stayed away from all other dairy.

I couldn’t decide how the homemade yogurt was going to fit in to my dairy free life, but I was determined to at least try it. Since I had previously had the least trouble with goat’s cheese, I decided to try it with goat’s milk. Elaine’s book, Breaking the Vicious Cycle, has detailed instructions on making the homemade yogurt because her process is different than typical yogurt making. The yogurt has to be fermented at least 24 hours so the lactose becomes galactose which is a monosaccharide. As I mentioned in the previous post, all of the carbohydrates must be monosaccharides.

So I decided to make it easy on myself and ordered the Yogourmet electric yogurt maker. I did not like the plastic container it came with to hold the yogurt, so I also ordered Wellbee’s 64 ounce Glass Jar that fits into the Yogourmet. Yogourmet comes with the freeze-dried yogurt starter and the thermometer. Getting the milk to the correct temperature and cooling it to there correct temperature before adding the starter are important.

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Wellbee's jar

The first time I made the yogurt, I enlisted the help of my hubby. I wish I had a video recording because it was kind of funny. Even though I had read through the directions, it was a new process and we were running back and forth from the stove to the sink to the counter.  I’ve now made it many times and it’s easy.

I also make fruit compote using just frozen organic fruit, a little water and honey. I add a couple of spoonfuls of this to the homemade yogurt each day and it is delicious! This one is mango but I have made mixed berry, blueberry and peach.fruit compote
I’m even happier to report than I have had ZERO reaction to the yogurt. This was a huge surprise to me. I did start out with just a few spoonfuls the first time and then a tiny bowl. Now I have a small bowl each day. The SCD also has several recipes with homemade yogurt as one of the ingredients.homemade yogurt

It’s important  to add here that there are several SCD recipes on the internet that are NOT really SCD legal according to the original SCD as written by Elaine Gottschall. I am strictly following the original diet initially to allow ample time to assess whether it is effective for my mast cells.homemade yogurt

So far, so good… Continue to follow to see more meals, foods and reactions.

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