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

Mast Cell Disorders, Ehlers-Danlos Syndrome and Dysautonomia

I’m making a change on my website. The focus of emotional eating and Mindful Eating has been changed to Mast Cell Disorders, Ehlers-Danlos Syndrome and Dysautonomia. BUT, first, let me reassure all of my present clients that I will continue to coach them. I absolutely believe Mindful Eating is the way to take charge of emotional eating, I’ve just decided to write about things I personally know, live and share with family members and many online friends. I will still write about healthy eating, stress and emotional eating within the new structure.

Ehlers-Danlos Syndrome (EDS) is a genetic connective tissue disorder causing joint dislocations and subluxations, tissue fragility and pain. The collagen or “glue” that holds us together is faulty. As it continues to breakdown, more body systems are affected; internal organs, muscles, tendons, skin and blood vessels, but this is not inclusive of all. People can be affected on a spectrum, so some of my family members are more severely affected and some are less so.

Dysautonomia is dysfunction of the autonomic nervous system that often co-exists with EDS. Since the autonomic nervous system controls all involuntary body functions such as breathing, heart rate, digestion, temperature, etc. when it malfunctions, symptoms can be significant. My blood pressure drops so low (70’s/40’s) that I take two medications to keep it normal. My heart rate rarely makes it out of the 50’s and has dropped into the 30’s. Others have the opposite with heart rate and blood pressue going quite high.

Mast Cell Disorders are very complicated and encompasses several different forms. I have Mast Cell Activation Syndrome (MCAS). Everyone has mast cells and they are typically beneficial but in mast cell disorders, we either have too many or they are “misbehaving” releasing mediators. This can cause allergic-type symptoms in every body system and the worst is anaphylaxis.

I have always said that self-care is so important to maintain good physical and emotional health. It is crucial when you have any one of these disorders or the “triad” which is all three together. I am in an NIH study with Dr. Joshua Milner who is researching the genetic connection between EDS and mast cells. So are many of my family members. With their permission, I will occasionally discuss issues my kids (29 and 35) deal with too (pictured below). They have inherited the “triad”.

So, I will still be writing about health, stress, self-care and many of the things you are used to from my blog, but now it will have a different focus. Join me on my journey…Carrie and Christopher

You Have Ehlers-Danlos Syndrome

I have occasionally been “missing in action” for periods of time and decided  to share my story with you for two reasons.

One, I believe that my lifestyle of healthy, mindful eating and living in the present with joy and peace has made this medical challenge so much more manageable and…

Two, if I can help even one person by sharing my story, I have honored my purpose here on earth.

You Have a Connective Tissue Disease…

 

I knew for a long time that I had something funky going on with my body. I was athletic, a runner, ate fanatically healthy and yet I had constant pain. The doctors who had already performed several orthopedic procedures to “fix” the “problems” with my feet explained my concerns simply… loose ligaments. Really??

 

So when my beautiful little 2-year son continuously dislocated his elbows and patellas (knee caps), my astute pediatrician sent him for an orthopedic evaluation. Luckily for me, this orthopod was quickly able to identify the true source of our “problems” and sent us down to the Joint Disease Hospital in Manhattan.

 

This was in 1988, when I was 32, my son was 2 and my daughter was 8. A panel of physicians evaluated us all: a rheumatologist, orthopedic surgeon and geneticist. Finally, we had a diagnosis- Ehlers-Danlos Syndrome- a connective tissue disorder that affects the collagen or glue that holds us together. It’s an inherited disorder that causes multiple symptoms, including joint instability, dislocations, pain, fragile skin and tissue, easy bleeding and bruising as well as a host of other symptoms.

 

Now I get it!! Everything makes sense! Instead of being upset and afraid, I am excited. There is a name for what we are all experiencing. Dr. Grant, the orthopedic surgeon, advises that there is no cure, it is rare and progressive, but much research is being done.

 

Okay… I’m an optimist. It has a name! They are doing research. It will be fine. I reassure myself and come home to share the news with my family. After all, it’s hereditary, so they need to know.

And so begins my story…EDNF