Tess the Mess, Healing a Bendy Body with HEDS

1st session of PT down!
What should you expect for your first PT appointment when you're a freshly diagnosed zebra like myself?
The first appointment is a lot of questions, and assessments. They'll do the beighton scale again, have you walk, and assess your range of motion and strength in your joints.
Then they'll start you off with a couple easy exercises to work on and set up a care plan.
For this plan, we're shooting for a 9-12 week course 1x a week to work on stabilizing my joints, strengthening, and proper body mechanics to assist with the hypermobile joints.
It was difficult to find a PT that both worked with my insurance and specialized in hEDS, and the closest one we could find taking new patients is an hour drive one way from home. But it's very worth having someone who knows exactly what I need and is knowledgeable about EDS.

Life sure can throw us for a loop! I thought I'd be just working on PT type of healing, but I am in the middle of a big hEDS flare up, stress induced, so my entire self needs healing, not just physically, but emotionally and mentally as well.
HEDS flares CAN affect the nervous system and symptoms can vary from person to person, but this time of year is particularly hard for those of us with hEDS. Emotional dysregulation, hormonal imbalances, the shift in the seasons, usual holiday stress, this time of year is rough on us.
Remember to be gentle with yourself. Allow yourself more time for self care, reach out, keep yourself from falling, it ain't easy, but you aren't alone if you're struggling, we all are, keep your head up. This won't last forever.

While I'm prepping to make the videos, here's a PT diagram about the things we'll be learning.

Hello all! I’m Tess. My nickname since I was a tiny tot was Tess The Mess… I didn’t realize how fitting that was till now.
To start off, I’m going to tell you my story, how I came to a diagnosis with a genetic disorder I was born with… yet not diagnosed till age 45. Let my story be a lesson for Dr’s as well, I was missed for so long when really didn’t need to suffer this way. My story I hope will also give those currently going through something similar to what I have some hope. I will heal. I’m a stubborn stinker, determined, and I will get there. It just might be slow going. I have a lot of healing to do.
In the fall of 2024, I started feeling crummy. I learned later what I was experiencing was what they refer to as the “October Slide” when people with chronic illnesses and autoimmune disorders symptoms flare up related to the change in the seasons. I had remembered my Dr from years ago telling me “I know you have a connective tissue disorder, I just don’t know which one,” and it got me thinking about that… I had a change in my insurance back then and was no longer able to see him and so we never looked into it.
I’m a medical sciences nerd, and extremely anxious when it comes to getting my own health taken care of. So I drown myself in medical knowledge to chill out my own anxieties. This I used to my advantage, and made a career in the medical field where I get to see people heal daily. Lots of different fun things to learn about constantly in my career field.
So what do you think a highly anxious medical nerd is going to do even before looking at my Dr’s schedule? Yup, that’s right, research it to death.
Upon my research, I learned that connective tissue disorders are genetic. So then either of my parents could have or carry it. Ok. And then I looked at their parents, I grew up with them, I looked at my aunts, my cousins, my children, and extended cousins even, further back down the family line because my great grandparents are all gone now so that cousin branch also gives clues. I looked at everybody I was blood to I knew was still alive that I could find. A bigger picture with genetic disorders is easier to find the answers with. When you’re analyzing the tiny details like genes, you gotta look at a much wider view than you think you do. Especially something so vague and reportedly rare as a connective tissue disorder.
I wrote my Dr an email asking her if what was plaguing my family for generations was some type of EDS. It seemed to check all the boxes in my larger view better than all the others did. My grandmother’s uterus ruptured with my youngest uncle. I have a pectus excavatum that my dad’s brother also has. Mine is considered mild and only a cosmetic issue, but it does have some right ventricle involvement. My sternum caves in and pushes in my right ventricle. They have never been able to visualize my right ventricle in echocardiograms, but everything appears as though it functions just fine despite it. That uncle, his son passed in his sleep at age 37, seemingly healthy, he was a firefighter, and his autopsy remains inconclusive. I have another cousin who had a chairi malformation and had to have brain surgery just a few years ago. I have another cousin who developed primary pulmonary hypertension that nearly killed her at one time but she’s thriving despite it.
My Dr replied, “Come see me, make an appointment” so I did. When I came in, she had done some research already and I knew all this was new information for her, because she did have questions as well and some of my questions she couldn’t answer, like “what subtype, is it type 4?” We learned that day that my insurance would not approve genetic testing for EDS due to the fact that I had all of the clinical criteria in her office at that time already for a clinical diagnosis. I had already been tested for just about every autoimmune disorder and had my thyroid and all the regular things checked and everything was always negative. As EDS won’t show in those tests. I had a 9/9 on the beighton score, the teeth crowding, papules in my heels, soft stretchy skin, weird wound healing, translucent skin, my hands appear aged far more than my face, all the obvious things were there. So I got my daignosis that day of hyper mobility spectrum disorder. No idea what subtype, though, and I was very curious, and so we researched a little how to find a way to pay out of pocket and found a few options. She did tell me, “You can do one of these if you want, they might have an answer but they also might not, but if you can, why not?” So I chose sequencing and did my entire genome, it didn’t really cost much more to do my entire genome vs just a connective tissue panel, so why not just get all the info vs just the tip of the iceberg. What a tip of the iceberg EDS ended up being for me.
I had my results in November. My results were strange, though, very confusing, and it took me a while to learn how to read the results. I spent about a month straight learning how to read them, what each thing meant, what each column was for, how it was organized, also was important to figure out. Upon all this, a few genes caught my attention I didn’t expect to see at all. I had genes that were supposed to cause XY reversal, CAH, and other intersex type disorders.
This really caught me off guard because I am female. I had kids starting at age 19 without issues conceiving them. No need for fertility treatment at all. As far as I knew, intersex people were not able to reproduce. So of course this got me digging into research about all this, what is XY reversal, what is CAH, what are intersex conditions, what are my genes trying to tell me here? What does this mean?
I realized I needed more testing to confirm. I sent another message to my Dr, asked her to take a peek at my results with her. She saw me, saw them. Said, “Oh, that is weird, Let’s order a karotype.” I remember when I finally got the test drawn, we had to get the insurance to approve it first and then it gets flown out to a genetics lab out of state. I told her when I had it done that my prediction was mosaic turner syndrome or something along those lines because mosaic turner syndrome is one of the only types that could reproduce naturally and is often asymptomatic and unknown to the person with it. It’s rarely found and diagnosed, however I had a lot of genes that were pointing that way across all my chromosomes. The gene that caught my attention was the BUB1B gene, that one regulates the chromosomes and I had several double allele and triple allele mutations in that one that would have allowed for a chromosomal error or variation.
Results took about 2 weeks. My karotype was 70%46XX/20%45X/10%47 # # #.
My prediction for diagnosis was correct. Only a bit more rare that I expected. I was a triple cell line! I expected 2, not 3! How does that happen, though?
I had to research for months to understand that. Cross referencing and checking with my Dr friends I’ve met over the course of my career as a nurse, bugging a few of them little bits at a time, asking “Is this right?” “Am I looking at this correctly?”
There are a couple different ways that could happen. The most likely way was early in my development my BUB1B gene allowed my X to misbehave and it didn’t go where it was supposed to during cell division, leaving half with one X (monosomy X) and one with 3 (trisomy X) this error almost always causes a zygotes development to halt, however, I had just the right mix of repair genes to fix the mistake. Those got to work. They began rearranging my genetics back into the normal line it was supposed to be in the first place, and having to undo the damage from the mistake and repair it all in time to develop and still thrive. My timing for my genetics to get this done, the genes that are responsible for that were also mutated and so they all worked together the best that they could to pull off a normal and functional female human being despite the inability to complete the normal cell line and needed to blend the totaling 3 cell lines in a functional way so that the body would survive despite it.
Another way, but results would be the same, is that I was a failing twin that perhaps was on the way towards death and my genetics rescued the surviving organism and blended them together like a calico cat, I would be more than one zygote in this scenario and the only way to tell if chimerism was how I resulted with 3 cell lines or just my BUB1B alone started the cascade of mutations that followed.
This would have been deadly for most organisms unless their connective tissues could hold up during the extreme salt wasting and chemical and hormonal imbalances during the chaotic time everything is trying to repair itself, and develop, the connective tissue disorder genetics that run in my family actually played a major role in how I survived this. They sensed their need and bulked up, mutated and turned my connective tissues into a different type of connective tissue, a different structure, and it acted more like duct tape and super glue and held my organs and blood vessels, everything together as it developed. Though problematic now, the EDS genes are why I lived at all. My Dr referred me to a genetics Dr to make sure we weren’t missing anything important because she had no experience with a mosaic turner syndrome person with a connective tissue disorder like me. Not many Dr’s do know what to do with me. I’m not common.
By the time I got to my genetics Dr, I already knew my diagnosis, I just didn’t know what to do with that information. What’s next?
November 14th, I got my wake up call. My care plan. This is what’s next.
Healing. Learning how to listen to my body. Learning how to move my body correctly so I don’t further damage it. Learning how to take care of it better and build my strength up and live a heathy life. Finally.
One year later, I finally have answers and a plan. Now it’s time to put it in place.

As I am learning how to correctly take care of this hypermobile body now that it's 45 and spent my entire life so far doing everything wrong, I've decided to make some videos to help me actually see if I'm doing these exercises correctly. So this will be where I share and post my videos as I make them. I will be using other physical therapists training and suggestions and copy them to see if I can get stronger this way. Because I'm lazy with PDA and getting myself motivated to actually do this stuff is hard so... I'm trying this out, see where it gets me.