After Diagnosis: hEDS and HSD

A diagnosis of hEDS or HSD isn’t the end of the road

If you’ve just received confirmation of your HSD or hEDS diagnosis, you may be wondering what comes next, what needs to change, what the solutions are, or even whether your current state is “as good as it gets”.Depending on your symptoms, you may have been referred to specialists in Immunology, Cardiology, Gastroenterology, Psychology, Orthopaedics or Physiotherapy, all of which will likely involve more days or months of waiting.

Many people who are diagnosed feel relieved and validated that their life experiences to date and their body’s “weird” idiosyncrasies have a defined cause. But right alongside a new diagnosis comes the inevitable “what now” and, if you run right to Google (or have already done so in your process towards a diagnosis), a quick search might send you grieving that life as you know it is over and you’re on an accelerated decline in function from wherever you currently stand (or sit or lie).

Medical Labels

Before going any further, it is important to understand what a medical label is for: Labels are intended to provide a category or categories within which your phenotype and symptoms exist. Labels such as hEDS and HSD are not intended to be predictive of the trajectory a person’s life and function will take. When the label used to explain symptoms is not correct, the categorization of the person’s experience is also wrong and this can result in the incorrect treatments and/or management protocols being applied; something most people with hEDS or HSD are already familiar with.

However, even when the label is correct and the root cause is identified, there is still a question of “what next”. A label alone does not provide a concise road map of steps to take towards improvement and this is even more true with a multi-systemic syndrome such as hEDS or HSD.

First and foremost, the potential fear associated with knowing the label needs to be addressed.

Here is what the hEDS and HSD labels do mean:

You have a root-cause explanation for your human experience to date.
You now have an idea of how your body’s tissues are assembled and can begin to search for tools to manage it with that filter in mind. This has the potential to dramatically improve your quality of life because methods applied until now may have been for the “collagen-typical” human.
You are part of a population that has increased risks of adverse reactions to medications, treatments, and surgery alike and knowing this can help you make future medical decisions with better clarity of risk vs reward.
You have a label with which to communicate your situation with medical professionals whether or not they have prior experience with the syndrome.

Here is what the hEDS and HSD labels do not mean:

You are going to decline from where you currently are.
You are pre-determined to a life of increased pain and dysfunction.
You will have a shorter lifespan than your peers.

The hEDS/HSD labels identify the classification, that is all: They are categorical and not predictive of outcomes. Medical practitioners require labels to explore, understand, communicate about and manage pathologies: It is a tool that helps them make decisions for better patient care. The hEDS or HSD label will provide insight into function (brought on by porous tissues), without predicting how your experience will go or providing strict one-size-fits-all guidelines on how to manage it. While this statement may elicit frustration, the lack of specific guidelines is because your life to date, your current circumstances, your environment, your genetic potential, your experiences and so on, are as unique as every other human on this planet.

No Two Zebras are Alike

A Zebra is used as a symbol for the hEDS and HSD communities because they sound like horses (i.e appear healthy and symptoms may initially sound like common ailments), but are not. Much in the same way that zebras all have variations in their stripes, no two hypermobile people are alike nor should they be directly compared. When it comes to learning more about hEDS or HSD, there are a couple of important terms to clarify and keep in mind:

Syndrome: Simply put, it means we don’t fully know or understand what causes it. As a result, advice cannot be given in absolute terms to apply to all people with hEDS and HSD (i.e black and white). There is no identified genetic mutation (or mutations as the case may be) specific to hEDS and there is tremendous variability in the presentation of the syndrome. This means that we need to explore the possibility of creating improvements in wellbeing through the filter of health principles and connective tissue issues rather than seek a singular approach.

“A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood.”

Heterogeneous phenotype: “Hetero” vs “homo” means that there is diversity within the group of people with hEDS and HSD. “Phenotype” is simply a set of characteristics (height, hair colour, eyes, etc) resulting from a person’s genetic code (inherited) and lifelong interaction with their environment (epigenetics). Combining the two terms simply means that those with hEDS and HSD are incredibly diverse. So that scary medical story you just read from one person is true for them just as an athlete with hEDS lifting heavy things is equally true.

In addition to understanding the label a bit, it is worth acknowledging the timeline within which this syndrome has been explored and to keep this top of mind as you move forward with your next steps plan. The Ehlers-Danlos Syndromes were first described a few hundred years ago but were not classified by name until the early 1900s, did not have a defined nosology until the late 1980s and have had the diagnostic criteria reviewed and changed as recently as 2017.

The International Consortium on EDS and HSD was only just created in 2014 and charitable organizations such as EDS-UK and HMSA have been leading the way in the last decade to push for more research and awareness. All of the EDS were thought to be quite rare but current estimates of the combined population proportion of hEDS and HSD place their occurrence at 20/1000 people. In short, this genetic makeup has been around a long time but a depth of understanding of the syndromes is in its infancy.

5 Considerations for Your Next Steps

Whether you are waiting for referrals or not, here are a few themes to guide your personal next steps in managing a lifelong syndrome:

1. Observe Your Beliefs

Beliefs shape outcomes, improvements, and the recovery from injuries or illness for any individual whether hypermobile or not. This article cannot encompass the myriad of impacts that beliefs can create but they can and do have the potential to influence behaviours for better or worse. In the hEDS and HSD population, it is all too common to see that people have adopted the belief that they are without options to improve, they’re destined to decline, and that movement is particularly dangerous or doesn’t play a role in pain management: A lack of movement makes it difficult for the body to produce new tissues and nerve cells which are the very building blocks that allow us to handle stress and pain, retain quality of life and create resilience.

The coding for connective tissue formation may be permanent but how it (i.e our bodies) interacts with the environment and the subsequent adaptation to stressors (such as activities of daily life and more), is something every person can influence positively with their chosen behaviours. Rather than seeking a permanent fix or a cure for how you’re built, it is helpful to adopt a pain-management and “cumulative improvement” approach as this leads to positive lifelong self-led strategies.

Ask: Now that you have a new filter to apply to understanding your body, how will that change your behaviours? What beliefs do you have about the label? If you intentionally adjust to live for a body with a connective tissue issue rather than trying to fit the mould of a collagen-typical one, things can get better.

2. Learn About The Body

Learning how bodily systems work instead of only learning about pathologies is crucial to building both understanding and confidence with your choices. All too often, individuals are able to list off their pathologies and medications but somewhere along the way, they were never taught how that joint, tissue, or system is supposed to operate when well and healthy or which active treatments create improvement (in a collagen-typical body or not).If you are searching for answers online, focus on what the structure is, what it is supposed to do, and what actions optimize its function.Searching for the pathology alone can lead you into all of the worst-case-scenario articles; these can perpetuate catastrophizing and fear avoidance behaviours which are more damaging than they are protective.

Ask: What do you know of your body’s joints and how they’re built? What do you know of pain science and do you have an understanding of how to manage it without heavy-hitting medications? What is your current knowledge of the digestive tract and immune system?

3. Track Your Function

Many clinics have pain apps and will ask patients to track or report their pain with a Visual Analogue Scale but what this can do is hard-wire us to become hyper-focused on the negative (brains are already hard-wired to the negative for survival purposes). Pain is a very very common symptom in hEDS and HSD and is often what leads people to seek out professional help. Not all pain is the same and we spoke about the complexity of it in our Pain 101 article. Regardless of whether the pain you’re experiencing is tissue harm or not (because hurt does not equal harm but all pain is real), it is important to take stock of “the good” and to track your function.

Ask: Are you tracking your function and finding what feels good on a regular basis? Have you set function-based goals to direct your movement and recovery choices?

4. Adjust Your Timeline & Tools

If you have become deconditioned, understand that regaining capacity can take months or years to achieve the function you are aiming for but it is work worth doing. As a whole, sedentary living will harm every single human no matter their genetic makeup; those with hEDS or HSD will simply be subject to the pains that come with that sooner.

If you’ve been deconditioned, look at the things you can do throughout your day vs trying to embark on a full exercise program. Be patient and kind to yourself as you try to regain movement capacity and, eventually, exercise tolerance. If you deliberately start adding in “movement snacks”, you will steadily improve your outcome and by the time you’re ready and able to add in some structured exercise, it will not feel as mentally or physically overwhelming.

By contrast, if you’re currently active but are frustrated with flares and setbacks, assess if you are perhaps loading in ways that do not allow for enough recovery. It is common for the hEDS and HSD athlete to try and train like their collagen-typical peers. Making adjustments for flares, menstrual cycles, and high total stress can make a world of difference in avoiding major setbacks.

Whether you are deconditioned, athletic, or anywhere in between, be flexible about incorporating variable movement and exercise methods to pre-empt the physical speed bumps that occur. All humans benefit from movement variability to keep joints healthy but our sporting culture has often emphasized that this means finding one thing you like and sticking to it or even identifying as it (“I’m a _______”). Incorporating many movement options will ensure that you can continue moving even if pain, subluxations, or otherwise create barriers towards some activities.

Ask: What movement methods do you currently know and are there others you are curious to learn about? Do you have movements that are appropriate for flare days? What expectations as far as timeline are you placing on your recovery from injuries?

5. Forgive

Forgive the professionals who didn’t recognize your symptoms. As previously noted, the EDS were once thought to be very rare and symptomatic hypermobility was largely believed to be relegated to the musculoskeletal system. It is normal to grieve, to be angry, frustrated, resentful, feel lost, and to rage (if you have the energy). Holding onto any of those long-term creates communication barriers between you and professionals or even loved ones. Creating barriers in communication can ultimately harm your health.

An ideal health professional for you may not have prior known experience with hEDS or HSD but they will be someone who is curious to learn and encourages open communication. An open-minded professional with whom you have a good connection will serve you far better than an hEDS/HSD-experienced person who does not. Recall that physicians have experience in an incredibly broad array of diseases, illnesses and pathologies and, when the label is known, may be able to start connecting the dots on who to seek referrals to or what tools may help you. Just because they haven’t known about hEDS/HSD does not mean they cannot learn and this is the entire purpose of raising awareness.

When it comes to manual practitioners, forgive the people who perhaps did not recognize your laxity in the past and treated you with methods that are contraindicated for hypermobile humans. A study in Belgium showed that less than 2% of physios had any training in hypermobility and even fewer understood that it could extend beyond the musculoskeletal system. Despite this, physiotherapy is still the primary recommendation people with hEDS and HSD receive. We’ll encourage you to look within and beyond physio and to seek out a practitioner in any discipline that understands your body, is willing to learn with you, and is able to progress you towards your goals by encouraging self-led management strategies.

It is of course very frustrating and painful (and expensive) to have treatment that winds up being incorrect for you and this is where a consultation with the professional can provide better insight and trust than immediately jumping into a hands-on treatment with them. As with all professions, there is incredible variability in skill sets and experience so it is not worth writing off an entire discipline just because one person was not the right fit. Furthermore, much of the management lies in your day to day so it is crucial to work with someone who has a long-term vision of your active management that can be done under your own steam rather than weekly treatments with no exit strategy.

Ask: Are you comfortable sharing resources such as those provided by EDS-UK with your health care professionals? Do you feel safe and open communicating with them when something doesn’t feel right? Are you holding onto anger from past experiences and bringing those forward with you?

Last but certainly not least, many people with hEDS and HSD need to extend forgiveness to themselves and their bodies. Your body is not trying to destroy you or limit you, it is always simply trying to keep you alive and is operating on the multitude of inputs it receives daily.

Summary

Although the phenotypical variability in people with hEDS and HSD necessitates an individualized approach to management, there are shared principles such as exercise, stress management, pain education, sleep and nutritional strategies that can guide practitioners and patients alike to create a framework within which to adjust based on the individual’s needs. We have found that people who embrace and adjust their daily actions to support bodily systems built with lax tissues realize their full potential for self-led management. Knowing you are in charge of actions that can improve your quality of life will ensure you do not get lost in a constellation of pathologies alongside your diagnosis.