Notes for new zebras
I've written enough emails to the newly diagnosed (or self-suspecting, soon-to-be diagnosed), that I decided I should post the info here!
Here’s what’s important to know:
Your body has different types of tissues -- muscle tissue, neural tissue, etc. Connective tissues are the fibers that hold together all the other tissues. It’s the glue in your body. It needs to be stretchy enough that you can bend and stretch, but tight enough that you don’t become a floppy mess. Connective tissue disorders can be caused by blips and mutations in the genes that encode collagen and other building blocks of connective tissue. Think of it as the blueprints or the computer code getting altered, so that every building constructed by the blueprints, or every file created by the computer code, is flawed. Your genes have the recipe or code for tissue production, so once mutated, all of the tissues created by that gene will be faulty. Now, this could be a huge issue, like if the blueprints of a building were altered so that the entire foundation was a mess, the building would not be functional. More likely, though, it’s a small enough flaw that it went unnoticed for a long time. But when trying to build an addition to the building, or when hit by a storm, suddenly that flaw becomes a problem.
The same is true for connective tissue disorders. You may have had it your entire life, but were able to work around it without quality of life being impacted too much. But when you get a bad illness, have a trauma (physical or emotional), or have a hormonal change (puberty, pregnancy, menopause, etc), sometimes it gets worse until you have to face that something’s wrong.
The good news is that there are some non-medical interventions that can make a big difference, and there are many of us out there, so there are plenty of opportunities for building community and crowd-sourcing for tips!
Some labels to know
Hypermobility is the term used for joints that stretch too far. It can also be called joint laxity or hyper-flexibility. 10-20% of the population is hypermobile, but many do not have any symptoms. In fact, likely many professional dancers, yogis, etc, have hypermobility, but no health problems! Know that many hypermobile people are actually not flexible! Our ligaments are too loose, so our muscles take over and tighten up, leading to stiff, inflexible joints. Repeated stretching or minor injuries can also cause arthritis, which makes joints even stiffer. Many patients and doctors dismiss hypermobility as an option because when asked “are you flexible?” the patient laughs and says “no, I’m horribly inflexible!”
The most common connective tissue disorder is hypermobility spectrum disorder (HSD). To diagnose this, you simply need a qualifying Beighton Score and consistent symptoms. If you don’t have a high Beighton score, consider your age/historical questions (e.g. if you are no longer able to touch your toes, but could until you were 20…), as well as any other examples of hypermobility, like is your skin very stretchy? Do your shoulders and hips pop out a lot? Does your spine get all wonky sometimes? Do your ankles overpronate? The outdated Brighton Criteria can also help with this. Most doctors right now are not well-versed in diagnosing HSD, so feel free to walk in with a Beighton and Brighton printout and any other research you’ve found helpful. Ask them to look up the UpToDate article about Joint Hypermobility Syndrome (JHS), or just bring a copy of it into the room.
HSD is a spectrum, and can look very different from person to person. There are likely several different genes that could be causing it -- we just haven’t identified them yet. The Ehlers-Danlos Society is working hard to fix this though! Part of the HSD spectrum is hypermobility-type Ehlers-Danlos Syndrome (hEDS). Symptoms and treatment are basically the same as other patients with HSD, but the EDS society has separated out this smaller group of people into their own category in their efforts to isolate the gene.
There are also other types of EDS, that you can find in this chart. The important thing to know is that one type, vascular Ehlers-Danlos (vEDS) can be much more severe than the others, so if you have a family history of unexplained bleeding, vascular collapse, or sudden death, you should get tested for the vEDS gene, which has been identified. Don’t freak out though -- this type is very rare! And if you had it, you would know already that something scary is in your family.
Other connective tissue disorders do exist, like Stickler syndrome, Osteogenesis Imperfecta, Marfan’s Syndrome, etc. Ask your doctor if they think you should see a geneticist to rule these out. If you have a history of heart problems and “marfanoid habitus” (the body type of Marfans, including exceptionally long limbs), you should check out Marfans.
A note on genetics
Most connective tissue disorders are genetic. This means that likely someone else in your family has it to some degree. As mentioned earlier, though, most people have mild symptoms and may not realize something’s wrong until an event causes it to worsen. My parents both have some symptoms, as do many members of my extended family, but I, somehow, was the only one in my family who was really seen as “sick.” My symptoms seemed to worsen after having Lyme disease and a series of significant stressors. As other family members experience high stress, pregnancy, etc, some of them have fallen into similar issues. But without my diagnosis, we likely wouldn't have identified any of my relatives as having HSD.
There is also the possibility of spontaneous generation, meaning no one in your family has this genetic issue -- you had a random mutation happen in your genes, that wasn’t passed down from either parent. Your children, should you have any, would be likely to inherit it from you, however.
And finally, sometimes hypermobility issues can develop from other issues, like a prolonged illness or exposure to mold. The theory here is that the inflammation in your body can damage the connective tissues in parts of your body.
Because connective tissues are in virtually every part of your body, it can affect any organ system. That being said, the most common issues are:
Joint laxity, subluxations, injuries, pain, popping/clicking joints
Soft, stretchy or fragile skin, easy bruising, abnormal scarring, slow/poor healing
GI symptoms including abdominal pain, GERD, nausea, vomiting, constipation, diarrhea
Pelvic and bladder dysfunction, organ prolapse
Dizziness, palpitations, tachycardia
Anxiety (not sure if it’s a physiological thing, or if being told you’re crazy/making it up by doctors, not to mention feeling sick all the time and being afraid of injury, causes psychological anxiety)
Connective tissue disorders are, for reasons that are not yet fully understood, associated with other conditions, or comorbidities. There are also many well-explained complications that can arise from having flawed connective tissues. If you have symptoms that aren’t on the above list, consider getting checked out for the following:
(it’s good to rule these out just in case, since they can get pretty bad if not caught early!)
Pelvic prolapse, vulvodynia
**POTS and MCAS are especially common comorbidities of HSD.
Check for POTS if you have headrushes, get short of breath or lightheaded, have trouble standing still without wiggling or getting dizzy, feel the need to sit/lay down a lot, frequent fainting, vomiting, fatigue, or other symptoms associated with tachycardia (fast heart rate). **Doctors may not know how to test for POTS. I have been tested incorrectly by doctors. Learn more here.
Consider MCAS if you have many or weird allergies, IBS, migraines, palpitations (heart pounding), fibromyalgia, asthma, hot flashes/chills/flushing, especially if any of these symptoms are triggered by foods, alcohol, temperature, smells, exercise, or emotions. Testing for MCAS is very complicated. I myself have never actually gotten positive test results. Consider seeing an MCAS specialist, or just try taking Benadryl (**dye-free! Pink Benadryl may not help if your mast cells react to red dye) during a migraine or IBS event, and see if it helps. This may indicate that mast cells are at the root of the issue. Consider tracking your foods and symptoms or asking your doctor to try a mast cell stabilizer like Cromolyn Sodium to see if it helps.
Improvement for HSD can mostly be found from exercise and listening to your body. Strengthening your muscles will help tighten up your joints and help avoid doing permanent damage to your ligaments. It is crucial to find a physical therapist who is well-versed in hypermobility, though -- I did some damage trying to exercise more without the awareness of what would make it worse. The Muldowney physical therapists in RI are some of the best HSD specialists around. Consider seeing them once and then buying the Muldowney protocol book to work on with a local PT. The book has helpful info about what might be causing issues for you, and clear step-by-step exercises that you can easily do from home once you’ve gotten some basic guidance from a PT.
Listening to your body is also crucial. If you need to sit in a weird position, do it. If you feel the need to lie down, give yourself permission. Learn to tell what makes you worse, and avoid those activities. But also, what makes you better? I realized my hip stopped popping out for a week or so after a good hike, so now I’ve added that to my “treatment” toolbox! If your joint is protesting, stop what you’re doing. If your muscle feels tired and sore, that probably means you’re doing productive strengthening, but sharp pains or the feeling of pulling/stretching/straining your joints is not productive. In general, avoid stretching altogether. It feels really good for stiff, sore muscles to stretch them out, but in hypermobile people, this can actually stretch the ligaments as well, which are not like muscles -- once they stretch out, they can’t tighten up again.
On that note, pay attention to different types of pain! You may be able to figure out your own treatments by figuring out what kind of pain it is, and tracking what helps. For example, here are my types of pains, and what works for me:
Treatment for POTS is typically: increase salt intake (in food, salt water, or salt sticks), drink tons of water, wear compression socks, lie down/put your feet up when you feel you need to, and exercise as much as you can -- cardio is best. Keep in mind, however, that rest is important and exercise may exacerbate MCAS or ME symptoms, so listen to your body. (If you have high blood pressure typically, don’t increase salt without talking it over with your doctor. In fact, you should obviously be talking to your doctor about all of this)
Treatment for MCAS -- REST, learn your triggers and avoid them! You can also talk to your doctor about histamine blockers and/or mast cell stabilizers. During bad flare ups, try Benadryl.
Sleeping and meditating can help with all of these illnesses. Some form of therapy is also important! It is hard work to be sick and still function in daily life. It is also anxiety-inducing to never know what your body will do next, and can cause depression in moments when you can’t live the life you wanted. Having a therapist means you get to let all that out, which makes inflammation go down (helping your hypermobility), helps your autonomic nervous system regulate (helping POTS), and lets your mast cells chill out (helping MCAS). It also just feels good to be happier and a better communicator :-)
That was a LOT of info. Here’s where to start:
Talk to your doctor about all of this. See what they think. Feel free to bring research in with you, since they may not actually know about this stuff.
Find a hypermobility-aware physical therapist and start exercising!
Pay attention to what you eat. Try to cut down on junky, processed foods, and pay attention to what makes you feel better/worse.
Prioritize your life -- it’s going to take work to let your body heal! Are there any people/activities/stressors in your life that aren’t helpful right now? Consider weeding down to things that will make you feel comfortable and happy. And don’t forget to set aside self-care time, just for you, and rest!
If you want to find community support, find a group of hypermobile people to connect with! There are plenty of EDS, POTS, and MCAS support groups online and some in person.