diagnosis letter
[ TW: Sarcasm, and I am going to list some weird and occasionally TMI, medical symptoms I have, and a scary traumatic night in a hospital, but I am okay. ]
screaming to the void
Dear medical professionals,
Who wants to play medical diagnosis guess-who with me??
Oh?
Where are you all going?
Huh.
There they all went. But look! The doctors left behind some notes, let’s take a look…
“Referral to a specialist with 2 year waiting list.”
Wow!
How helpful!
It seems, if the tests say I am normal, then I must be normal.
…All of these weird symptoms I’m having? The ones I’ve had since childhood, and the ones cropping up now? Well. Must be in my head. Maybe lying for attention! Maybe dramatic. Maybe low pain tolerance.
Surely not, a diagnosable, treatable disorder, that explains everything! Ridiculous.
Would you like to hazard a guess?
A sampling of symptoms:
Lifelong inability to keep weight on!
Cutaneous Mastocytosis, diagnosed as an infant!
Intolerance to heat!
Neurodivergences!
Hypermobility! (i.e. I can do the splits without trying and scare people with my fingers)
Chronic GI issues! Constipation!
Dizzy standing up! Sometimes vision reboots when standing up!
POTS!?
Dysautonomia!?
Vasovagal syncope!
Low blood pressure!
Piezogenic papules on heels!
Weird scars!
Easy bruising, super slow healing!
Myopia! (short sighted)
Numb and tingly fingers!
Sweat dysregulation!
Frequent urination!
Nausea!
Abdominal pain!
Severe menstrual cramping!
Torn ligaments and surgeries!
Prone to injury and illness!
CHRONIC JOINT PAIN.
(if right now you're like, huh. This sounds like me, or someone you know, begin your journey now.)
why are zebras involved ?
Three years ago, after my knee blow out, my physical therapist, at my first appointment with him, took ten minutes with me, asked me a few things, had me do a few things; then said, “I think you need to be tested for hEDS.”
He had another patient who was very similar to me, and saw the signs.
I had also seen the signs; but I wrote them off. Definitely all of it could be explained by my mastocytosis diagnosis(skin disorder)? …right?
But I talked to a friend with EDS. And I did some research online.
And then… my knee just didn’t heal.
It’s been three years.
I am obsessive about doing my PT exercises, strength building, trying to get back to the athlete that I was before my injury (I tore my meniscus, ACL, FCL, MCL. basically fml. Also sprained my IT band and had bone contusions. BUT. I won the round of wrestling, so.)
But I still didn’t heal. I am in chronic daily knee pain; sometimes better, sometimes worse.
So I became more sedentary. Not by choice.
I lost a lot of muscle.
It’s gotten much worse over the last year— I’m still getting at least 5k steps a day, doing my routines, but without a constant active lifestyle like the one I had spent my life building up to— my muscles melted away.
I started 2024 at 132 pounds. Now in November, I weigh 115.
This is not from disordered eating, I am hungry, I eat, I generally eat quite healthy and diverse whole foods.
Something is going on.
But my doctors have put me off for years. Ignored some symptoms in favor of others that could be ‘tested’.
“You don’t have Celiac because the test came back negative. Hope you have a nice day.” Nevermind that the test is only accurate if you’ve been eating gluten, and you have been on a gluten free diet. No follow up until I beg for it; and then, it’s a referral for a GI with a long wait list.
“You can’t have Lupus! Oh, wait, your ANA test came back positive. You want me to do the next test to rule out Lupus? Oh. no no no. I would feel uncomfortable. How about I refer you to a rheumatologist so you can wait a year to have your symptoms looked at instead?”
My PCP has been a nightmare— but I did get to a really caring geneticist; he ruled out all the known hereditary connective tissue disorders, and is ready, standing by, to diagnose me with hEDS. But he wanted me to rule out Lupus (and rheumatoid arthritis, which, yay! I do not have!) first.
So I am stuck still waiting for the rheumatology. Due to referral errors with my PCP, it will be two years since my original rheumatology referral before I actually get seen next March.
“According to international Ehlers-Danlos support groups, the average time to diagnosis of this rare genetic condition is 10–12 years. Consequently, the journey to diagnosis can potentially be traumatic.” — National Library of Medicine.
I feel this. I knew about the “hEDS traumatic diagnosis journey” thing going in three years ago when my PT first suspected it and my friend encouraged me to get checked out. But I thought, having known all along it was likely hEDS, I would not possibly be traumatized by this journey.
…I was wrong. I am absolutely traumatized by the lack of care and curiosity in the medical field, how expensive everything is, and how difficult it is to chase after referrals and actually get seen. Meanwhile, my symptoms are worsening quickly.
my first ambulance ride!
All of this came to a head last week, for my first ever ambulance ride! Woo! The moon was full!
Previously, I have broken an arm, I have blown out a knee, I have had acute appendicitis, I was thrown out of a moving vehicle, I’ve had a total of 6 surgeries; never, not once, have I gotten to go in an ambulance.
Let me clarify— it is not my dream to go in an ambulance. But if I WAS to go, I’ve always wondered what it is like to ride in one. What’s in there? How’s the suspension?
Anyway. I feel that I didn't get to enjoy it or look around the inside as much as I would have wanted. Like, I don’t feel I got my money’s worth.
Anyway.
I mentioned I lost a lot of weight. It turns out, that maintaining strength and muscle is one of the most important lifestyle treatments for folks with hEDS.
Because muscle is what holds us together.
When ligaments and joints are weak and unstable, having good musculature can help prevent injury.
So if you lose all that, it really doesn’t take much for something to go very badly.
…
It was the middle of the night. I wake. I adjust my pillow, I try to put my head back down— and something goes terribly wrong in my neck.
I sit up, thinking I can fix it; I can’t. I look right, and suddenly I am in excruciating pain.
I am shaking, I throw up in my mouth, my hands are numb?? Wait, all the way up my arm??
I wake my love, and realize I can barely hear my own voice, I cannot hear him. My vision darkens, I get to the floor, I move to the bathroom to avoid wetting myself, I collapse.
I fear to move. I am screaming that I cannot feel my hands. The pain is debilitating. I am begging for pain medication.
Understandably, he calls 911.
He locks away the cats, an ambulance and a fire truck arrive insanely fast; I am the most embarrassed I can possibly be.
I am so embarrassed.
I am in so much pain.
There are way too many people in my house, and it is 3:30am. They put my neck in a brace. It’s immediately better, but still blindingly painful. I can hear them now.
I am shaking shaking shaking.
My three team ambulance folks; thank you. thank you for holding my hand while I cried on the way.
The doors shut over the full moon; I am bombarded by questions and cannot look around, only mildly aware that we are moving.
They give me Fentanyl and Tylenol. I am still in pain but refuse any more drugs because I can scarcely compute as it is and I want to be cognizant.
The hospital— Ct Scan is normal. MRI is normal. Everything takes forever, but as soon as we have the results, I’m “free to go.”
……… but what about my pain?
what about what happened to me?
why did my hands go numb? my hearing and vision gone?
Why am I still in pain now? What do I do?
I am prescribed muscle relaxants. I am crying. I am begging.
They give me no answers. “Follow up with your PCP.”
By this point, you know already, my PCP is absolutely fed up with me.
I am devastated, I cry the whole way out of the hospital, into the car, and the rest of the day. I am so embarrassed. Everything is totally normal, nothing is wrong with me.
…then why can’t I move my head? Why am I in so much pain?
moving forward
Thankfully, my love has an incredible family who are very medically knowledgable. I have been connected to an expert, a specialist tomorrow, and a diagnosis (and more importantly, a treatment plan), is hopefully on the way.
My neck? It’s been a week now. I am in crippling daily pain. I have to set timers every hour to do light movements. It’s hard to hold my head up. I need a “vertical MRI”, as apparently, normal MRIs will not show what’s going on for some connective tissue patients. Getting one is its own referral/specialist scavenger hunt.
In the mean time, I can’t take NSAIDS because of my skin disorder, the muscle relaxant does nothing but constipate me so I am not taking it (and apparently, can be problematic for hEDS folks— but hey, technically I don’t have hEDS so what’s the problem!?), and of course, my PCP has not addressed my hospital visit at all, after several messages, she has ordered some additional labs, at last, for Lupus and Celiac, to ‘cross those out’. …but what about my neck doc? what about the pain??
But I am sick and tired, literally, of crossing things out instead of treating the symptoms I have. I need a treatment plan, therapy of many kinds, and time to recover.
In the best of times, I have daily joint pain. My chronic knee pain is terrible but I can manage it.
Right now? I can scarcely function; the neck pain travels down my shoulder and arm, up into my head and eyes. It’s all tense and guarded. I’ve been in constant pain, unable to get comfortable, for a week.
And the people who care are not my doctors. But, I have hope on the horizon, a consultation with an hEDS specialist tomorrow, and I aim to get better with some focused time off. At this point, I cannot work anyway.
that was a lot
I am just. so pissed and angry and exhausted and crying all the time I CANNOT STAND IT. I just want to work and instead I can barely hold my head up, but letting it rest on a pillow also hurts. It feels like I cannot win.
Thank you for listening to more of my screams into the void. I realize this was very personal and vulnerable, and I may not leave it on the internet for long. But it is cathartic to ramble, to be sassy and humorous, and just— disgusted with the medical system. I don’t even have it that bad, I can generally advocate for myself; yet this is getting really hard.
My heart goes out to the many people who have taken this journey before me, who are taking it now with me, who will take it later. I hope we can get better. The question isn’t if hEDS folks have a shorter lifespan; it’s if we’ll want to have a long one. It’s so important to take mental health as seriously as the physical health; yes, I am going to therapy.
take care, schedule your appointments, drink water, do your pt, with love,
Aimee ♥︎
ps— …my Etsy shop is here, if you have the means and inclination.
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