This post was last updated on November 27, 2023.
In the years since I sustained my spinal CSF leak, I’ve seen my health devolve and new conditions and symptoms crop up. Since 2017, I’ve been able to see specialists via the kind of scrappy advocacy we unfortunately have to avail ourselves of when falling between the cracks medically. In the process, I’ve learned more about my body, enough that that information sheds a very different light on the many years of chronic pain I endured prior to my CSF leak.
So what are those dots that have connected?
1. Spinal CSF Leak
As I mentioned, my spinal CSF leak is still active.
By January 2022, my leak improved enough that I could be upright 7-8 hours a day, non-consecutively. Many breaks in between to lay down. Unfortunately, at that time I slipped, and my leak fully reopened again. 2023 has been a time of slowly trying to gain back the uptime I lost.
A percentage of that uptime goes toward the necessities of life, since I’m living alone. Doing my own dishes, preparing my own food—it all takes time and effort, and pain. I do have home care that comes in twice a week, thankfully supported by my business income which lets me afford to do so. It’s a tiny life, but it is fulfilling as I do feel like sharing these experiences helps people feel less alone.
My life does remain very small, and an “exciting” day for me is when I go for a slightly longer walk than usual, or make some progress in other ways.
The little things are what I now celebrate. And I am lucky to have others here to celebrate with me.
2. Angry Mast Cells
I recently finished a very long mast cell activation disorder page. Well, for now it’s finished! I update it when new studies or research comes out.
Many of you know how tough the last years have been in terms of reactivity to food, environments, and other strange new triggers—like sunlight. Some of these issues started after I got sick in 2013, but I actually had many years as a child where I would cough and itch while trying to sleep. This went away when I hit puberty, and remained mostly in repose until 2013. Then, when a lumbar puncture gave me a CSF leak, the sleeplessness, itchiness, tickling in my throat and more came back, in addition to many new issues. This culminated in my going into anaphylaxis on the table during my final round of blood patching.
Ever since, I’ve been struggling to stabilize and calm my immune system. I started learning about mast cells because other CSF leak patients with complex cases also seemed to have this issue. It was a fellow leak patient who suggested I look into it initially.
From the page I wrote:
Mast cells are “sentinels” of the immune system, a type of white blood cell that helps control the immune processes in the body. They are called resident immune cells because they reside in tissues and not in our bloodstream. And they reside in tissues all over the body, from the connective tissue, to the endothelial cells, to the epithelial cells, and even in the brain.
Over time, I kept a huge folder of notes, studies, and protocols and whittled down my own self-experimentation to something that has worked. I was able to self-refer to a specialist outside of Canada (thankfully my global travel insurance covered the lab work needed to test for it, but not the specialist appointments themselves), and travel to the United States to do the required testing.
Testing confirmed that I do, in fact, have this inflammatory immune disorder. It’s a doozy, and it affects every aspect of my day-to-day life, in addition to the leak. I went from eating tons of street food and traveling the world, to going into anaphylaxis with certain smells, foods, or insect stings.
Given how many people have written me over the years with strange reactions, hives, thick sticky blood, bone pain, rashes, itching, headaches, and much more, I wanted to share the resources page because it goes into symptoms caused by each of the systems affected by mast cells when they are dysfunctional.
In addition, the prevalence of long-Covid during the pandemic is relevant. Anecdotally, many of you wrote in to say that you’ve been diagnosed with a mast cell disorder following a COVID-19 infection. This matches some of the literature, but research is ongoing in this area. At least one mast cell specialist agrees. It’s also similar to what happened after I got sick in 2013.
Given those numbers, I wanted to make sure I had a resource page for those of you with long Covid, too. It has felt so bewildering to manage and tackle this very erratic condition and I know how exhausting it can be to look at the scads of very contradictory information online and try to make sense of it.
While I am obviously not a medical doctor, nor do I play one on TV, I hope my research notes will help patients navigate this complicated disease. It’s also worth noting that chronic mast cell dysfunction can weaken connective tissue and also delay wound healing.
3. ‘Wonky’ Connective Tissue (EDS)
Another mystery solved. It turns out that I also have a genetic condition that affects my connective tissue. It’s called Ehlers-Danlos Syndrome (EDS), of which there are different subtypes. According to the geneticist I saw, I have the hypermobile type (called hEDS), the subtype where the gene has not yet been found. Diagnosis is thus made based on clinical findings.
Way back when I started writing about this spinal tap and what happened thereafter, I said that anecdotally the patients that had connective tissue problems seemed to be the ones who seemed to have the worst outcomes.
Sadly I am in that boat.
The geneticist confirmed that disparate issues I never would have thought to connect all lead back to my collagen synthesis. And that the worsening expression of this condition also explains the years of chronic pain since I got sick in 2013. (Apparently it’s also why I look so young, though the rest of my body feels like it’s 90 years old.)
My appointment with the geneticist was an overwhelming one. For starters, she was taken aback by the force of what I put my body through during my many years of travel. She told me she was surprised it took so long for everything to really collapse. She confirmed that in some of her patients, getting a bad virus can worsen the underlying collagen issues, which dovetails with the changes in my body and skin after I got sick in 2013.
But even before then, there were so many strange quirks that ran in parts of my family but did not seem to affect my friends. Those included how my ligaments easily tore, how I had delayed wound healing, how my skin was soft and velvety and thin, how flexible I was, the fact that local anaesthetics don’t work for me—and more.
This last factor was also why my spinal tap was so excruciatingly painful.
Prior to the lumbar puncture, any concerns I raised to doctors about my rising pain levels or easily-obtained injuries were simply dismissed as “stress.” This minimization or ignoring of symptoms isn’t new, but is common. Says geneticist Dr. Clair Francomano,
“A lot of people hear that it’s all in their head, and that there is no physiologic basis for their symptoms,” Francomano said. “Particularly if they’re healthy-looking young women, unfortunately there is a tendency to dismiss their experience.”Via STAT Magazine, “Everyday bumps injured her joints, but finding the reason took half a century“
For me, the diagnosis was validating. The stretchy skin and painful joints and so much more made sense. As does celiac disease and the mast cell issues. A 2021 case control report found that celiac disease was one of the most common gastrointestinal conditions associated with EDS, and the association was much stronger than in controls. And a different 2021 analysis found that in hospitalized patients with MCAS, 1 in 3 had a comorbid diagnosis of hEDS.
But it was also deflating.
Like I said, connective tissue disorder patients seem to be the ones where the leak repairs don’t hold. In my years in the spinal CSF leak groups, those of us with these wonky tissues are the ones who open new leaks and/or have their old ones re-open again, even with surgery. This information is part of why I’ve been so conservative about pursuing further procedures.
The diagnosis also hit me hard for another reason: throughout my life, I joked that I was scrappy “even though my body hated me”. I’d say things like, “oh I was built from the defective parts of other people!” My ex used to say I was built with no warranties (yes, as lawyers we thought this was funny).
But the truth was the opposite.
Not knowing I was a canary in a coal mine, I put my body through so much. I pushed myself to the brink many times. I stubbornly kept traveling even when I got frequently sick. Even when I dealt with years of chronic pain.
And throughout I was mad.
Mad at my body, mad at my exhaustion, mad that I couldn’t be “normal” like everyone else.
Why did I always get hurt? Or sick? Or exhausted?
Now I have my answer. All those years when I was mad at my body, I should have been proud of it. Despite these underlying things I didn’t know, it allowed me to see the world intensely for a decade.
Edited to add: I received a few messages saying I’m lucky to live in Canada because I could easily see specialists. Yes, I love Canada, but that is not what happened. Canada’s system is great when you have a common, expensive disease. You will not go bankrupt due to medical care when getting treatment for cancer, for example. But access to specialist care, especially for rare diseases, is very difficult. I was in Quebec from 2017-2022, and still did not have a primary care physician, because the waits are so long. Therefore, no specialist referrals.
In order to see these specialists, including during my time at Duke, I had to fight hard to get care. I think some of the skills you learn traveling long term apply here, too; when a path to getting from A to B is no longer possible, you start to look for other, creative connections between them.
For me, this meant self-referring to the mast cell specialist and to the geneticist, but it took a long time to make it happen. Concurrently, I kept trying to go via the conventional route here in Canada. I am privileged that my global medical plan I used on my travels covered some of these appointments.
The medical systems in both countries have their problems, and their benefits. I found it difficult to navigate as I sought out these answers, but it took my figuring out that these conditions matched what was going on, then getting to specialists to see if those theories were correct. I otherwise would not have gotten care.