EDS Awareness Month: Answering Your Questions! PART ONE

Last month I asked people to send me their questions about EDS and related conditions...you asked some really great questions! 

Due to the number of questions and length of some answers, I have separated the questions into 2 posts. Below are the answers to part one!

General EDS Questions

What is EDS? 

The Ehlers-Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Connective tissue is found in about 80% of the human body and is made up of proteins that support skin, bones, blood vessels, and other organs. EDS is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There are currently 13 subtypes. The specific gene mutations are known for all but one subtype- hypermobile EDS (hEDS). The genetic cause varies depending on the particular subtype, but EDS often involves a defect in the protein collagen. Collagen is the glue that holds the body together. 

People with EDS present with joint, skin, and systemic problems. The hypermobile joints are unstable and prone to frequent dislocations and subluxations (partial dislocations). This leads to widespread musculoskeletal pain and early onset of osteoarthritis. People with EDS often have very soft velvety-like skin that is hyperextensible and fragile. The skin may tear or bruise easily, resulting in severe scarring, and slow and poor wound healing. 

Depending on the subtype, people with EDS are also more prone to arterial, intestinal, and uterine fragility or rupture, scoliosis, poor muscle tone, and mitral valve prolapse. 

EDS is a spectrum disorder. The severity varies from person to person. Some are only mildly affected, while others are completely disabled.  No two people with EDS present in exactly the same way, making it incredibly difficult to diagnose and manage. For some, EDS is progressive, with symptoms worsening over time. 

What is the treatment for EDS? Is there a treatment? 

Treatment plans are individualized and focus on managing symptoms, which are widespread and varied. Treatment for EDS may consist of surgery, physical therapy, and bracing or splinting. Making treatment and management of EDS complicated are the comorbid conditions. I will cover questions related to the associated conditions in part two.

Surgery may involve a particular joint with the goal of stabilizing it as best as possible. This often requires creative thinking from the surgical team and the use of allografts (a tissue graft from a donor of the same species as the recipient but not genetically identical.) Joint fusions may be necessary as a last resort. There are a number of non-orthopedic surgeries that are sometimes required as well due to the comorbid/associated conditions (neurosurgery, cardiovascular surgery, GI surgery, etc.).

PT is incredibly important in EDS, but it is also crucial to find a physical therapist that understands EDS. Often times traditional exercises are not effective or safe. Many with EDS also have comorbid conditions that need to be considered as part of the PT treatment plan as well. The goal of PT is to increase muscle strength to better stabilize joints, address muscular imbalances, and improve proprioception.

Bracing and splinting provides additional support and stability to unstable joints. However, the downside to braces/splints is that it can also lead to muscle atrophy, which leads to more instability.

Is there a cure (or one currently being worked on)?

Unfortunately, to date, there is no cure for any of the 13 subtypes of EDS. One of the reasons I am so passionate about raising awareness and helping people better understand EDS and related conditions is awareness leads to more funding and research. Without research, there will be no cure.

What are the differences between the 13 subtypes?

Each subtype has its own set of clinical criteria; however, there are similarities between the different types. Similarities include joint, skin, and systemic manifestations consistent with connective tissue disorders. To learn more about the differences click here!

Is EDS painful?

Yes, for me it is! I deal with anywhere from 1 to 20+ joint dislocations/subluxations every day. Dislocations and subluxations lead to significant joint pain as a result of micro and macro trauma to the surrounding nerves, soft tissue, and bone structures. I experience pain every minute of every day.

What is the difference between dislocations and subluxations?

A dislocation is a "displacement of a bone from its natural position in the joint." This occurs when the two bones that form a joint fully separate from each other. It requires reduction, or manipulation to relocate the bones back to their proper position.

Anterior shoulder dislocation

A subluxation is a partial dislocation in which the bones begin to separate, though not completely. A subluxation can be just as painful as a dislocation and can even be more difficult to address due to widespread muscular imbalances as the body tries to compensate.

 

Medial kneecap subluxation

I know someone who is "double jointed." Is that the same thing as EDS?

First, there is no such thing as being "double jointed." The proper term is joint hypermobility (joints that move beyond normal/expected range). Joint hypermobility is a characteristic of EDS; however, just because someone is hypermobile, does not mean that they have EDS. Additional clinical criteria must be met before a diagnosis of EDS can be made. EDS is much more than just hypermobile joints. Many people with EDS live with a number of different chronic illnesses that affect multiple systems (all due to faulty connective tissue).

EDS Research and Awareness

How has the general awareness of EDS changed since you were first diagnosed? Has it gotten better or worse?

Great question! Awareness of EDS has certainly improved since my initial diagnosis in 2010. When I was diagnosed at 19 years old, hardly anyone knew what EDS was (including healthcare providers).  I often had to spell it out for my doctors just so that they could "Google it." This made it even more difficult to be accurately diagnosed, much less to find a team that understood how best to manage the many manifestations and widespread systemic problems. While it is still not widely known or understood, it is slightly more recognizable in healthcare; that is my experience at least. However, we are nowhere near where we need to be in regards to awareness. There is not enough research. There is not enough expertise. This needs to change.

In 2017, the clinical criteria were updated and new research/literature was released. This also led to new educational resources for healthcare providers and the general public. My hope is that awareness of EDS continues to improve. Increased awareness leads to more research. Without research, we have no hope for a cure.

Life with EDS

When and how were you diagnosed?

I was diagnosed in 2010 at 19 years old (just before turning 20). I was recovering from major reconstructive hip surgery (as a result of hip dysplasia) and due to immobility from the surgery (being unable to weight bear through my leg), my quad muscles atrophied. This led to spontaneous kneecap dislocations every day. I also struggled with near fainting episodes during that time frame as well. Ultimately, my surgeons referred me to genetics due to the spontaneous kneecap dislocations as well as my past history of gymnastics injuries. I was diagnosed based on clinical examination with hypermobile EDS; however, it is now suspected that I have classical EDS (cEDS). 

How do you manage dislocations and EDS?

EDS: First and foremost, physical therapy. I have been in physical therapy for the last 10+ years. The treatment plan and techniques used depend on the particular area we are working on. The goals, as stated above, are to increase strength and stability, improve proprioception, and manage muscular imbalances and dislocations/subluxations. I also utilize braces/splints to provide additional support, and use mobility aids regularly (wheelchair and/or crutches). Though there is no perfect solution and surgery is not a cure, sometimes we reach a point where my quality of life and function with a particular joint is severely impacted and surgery is the best option.

 

Dislocations: For me, the first step in managing a dislocation is to reduce it (or relocate the joint back to its "normal" position). Sometimes this is easy, and other times it just does not seem to go back in correctly. Depending on the severity of the joint dislocation, I either do nothing (after it is relocated), or I brace/splint/immobilize the joint until the surrounding soft tissue has a chance to settle down. Occasionally I require assistance from my PT to address muscular imbalances that occur as a result of a dislocation/subluxation.

How will EDS affect you in the future?

It is difficult to predict how EDS will affect my future as both EDS and chronic illness are truly unpredictable. I can't predict what my body is going to do 10 minutes from now, so how can I predict my future? With that said, EDS can be progressive. It has been for me. I have watched my health decline over the last 4-5 years and I have not been able to regain any sense of stability. So while I would welcome any improvement, realistically, with a chronic and progressive disorder, it is unlikely that my health improves significantly. This reality is stressful and overwhelming at times because it makes planning my future even more challenging. I want to be able to support myself and be independent. I want to be able to contribute to society in a meaningful way. Unfortunately, with no ability to plan, I do not know what my future will hold.

What is one thing you want someone without EDS to know about EDS or how it impacts your life?

In a perfect world, friends and family (and the general public) would understand everything. But that’s unrealistic. I think the ONE thing I want someone without EDS to know about EDS/how it impacts my life is that it's lifelong. EDS is a genetic condition. I was born with it. It is chronic and progressive. It is not going away. I won’t wake up tomorrow and be better. Surgery isn’t a cure. Physical therapy isn’t a cure. Bracing and splinting is really just a band-aid. There is no medication that will fix this. There is NO cure. The concept of chronic and progressive illnesses seems to baffle people. They really struggle with the idea that there are health conditions that exist without a starting point and an end.

There are so many things I wish people understood. It is not possible to cover them all. It is also not realistic for me to expect people to understand what it is like to live with chronic, unpredictable, progressive illnesses. That is something that you only truly understand when you are living it. I am blessed with family and friends who want to understand and for that, I am forever grateful. Not everyone is as lucky to be surrounded by a wonderful support system. 

What is the hardest/worst part about having EDS?

I think the unpredictability of EDS and chronic illness is the hardest part. Every day is different. I have very little control over what my body does on any given day and that makes it very difficult to plan too far in advance. I often feel guilty canceling plans last minute, and sometimes push myself more than I should because of this guilt. For someone who likes to be in control of situations, I have very little control.

What is the biggest lesson you have learned from EDS?

EDS has taught me so much. It has taught me how to adapt and how to live despite my illness and altered reality. It has taught me to persevere and to trust my instincts and fight for what I believe in. Everyday with EDS I learn. I learn more about myself, my abilities, and my strengths.

My life with EDS and chronic illness is not the one I had envisioned for myself. I had envisioned a life in Boston, working as a nurse at my favorite hospital (the hospital that has done so much for me). I envisioned pursuing a Master's in Case Management and/or Genetics to help others like myself navigate a complicated system. I had hoped to make a positive difference in people's lives. That is not my reality though. So the biggest lesson I have learned is how to adapt to life's circumstances to redefine myself, my goals, and my dreams.

How does EDS effect people with respect to their work life? Are people with EDS able to manage to have jobs/careers?

EDS is a spectrum disorder. Some are only mildly affected, while others are completely disabled. Some are able to work full-time with very little difficulty. Others are able to work part-time. Yet,  some may not be able to work at all. 

I am a Registered Nurse. I worked incredibly hard for my license; however, unfortunately, I am unable to work at this time. I do volunteer as a nurse at a barn that provides programs for special needs children. This allows me to feel purposeful.

My health changes constantly. I live with unrelenting pain and fatigue. In addition to EDS, I also have Chiari Malformation, craniocervical instability, neurocardiogenic syncope and POTS (autonomic dysfunction), gastroparesis and delayed intestinal motility, Hashimoto's, Graves', autoimmune neutropenia, and complex regional pain syndrome (CRPS). With the unpredictability of having so many chronic illnesses, I never know how I am going to feel on a given day or week. It is a frustrating reality, as I want nothing more than to be able to support myself and contribute to society.

What aids do you use regularly? Do you need to use mobility aids and braces consistently?

Due to joint dislocations, joint pain, fatigue, and autonomic dysfunction (POTS) I use a variety of different mobility aids depending on my situation. Sometimes I require a wheelchair for longer outings or circumstances that would require me being on my feet for too long. Due to POTS, I cannot stand for extended periods of time without pre-syncopal/syncopal (fainting) episodes. I am also struggling with right hip dislocations/instability that make weight bearing through my leg very difficult. I am a high fall risk as a result, and a fall leads to other dislocations and injuries. 

For shorter outings, I use forearm crutches. The challenge with crutches, however, is that my right shoulder is incredibly unstable and often dislocates when I apply too much weight through my arm. This can also lead to falls, and with joints that don't stay in place, falls are less than ideal.  

My wheelchair allows me to do fun things with family and friends!

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Flares with Chronic Illness

Different problems flare in different ways.

A flare with EDS typically involves an increase in pain (and instability) in specific joints. For example, a bad dislocation of my shoulder can lead to severe pain (and bruising) for days and the need to immobilize for a period of time to allow the shoulder (and all of the supporting tissue) to calm down. The same applies to all of my joints.

When my neck "flares" I am typically dealing with several cervical rotations that lead to unpleasant neurological symptoms. Fortunately, we are pretty good at figuring out the cause of the problem based on the specific set of symptoms I am experiencing. To manage I receive manual therapy weekly to work through the cervical rotations and muscle tension. I  also wear a cervical collar when the neck pain and instability are unmanageable (I try to avoid the cervical collar as much as possible as my neck muscles tend to “forget” to hold my head up after wearing the collar for extended periods of time).

A flare for POTS usually involves several days or weeks with a lower blood pressure than my normal baseline, tachycardia at rest and with standing, difficulty tolerating being upright for more than a few minutes, more pre-syncopal and syncopal episodes, and usually the need to increase IV fluids and blood pressure medications for a period of time. A POTS flare can be caused by a number of different factors--dehydration, heat intolerance, too much exertion (such as with travel), illness, cervical rotations (a flare in my neck can lead to a flare in POTS---the body is connected).

A flare with MCAS involves allergic reactions (primarily rashes) to unknown allergens/triggers more regularly. Sometimes a MCAS flare leads to an asthma flare (as I have allergic asthma). I wear a mask for precautionary reasons and always in the presence of grass (as that triggers an asthma attack almost instantly).

CRPS flares often bring the most panic because I have no medication options anymore with the exception of Ketamine. I try my best to avoid tiggers and until recently CRPS had been in remission. Unfortunately, my body decided to react to the hardware in my leg and that has led to a flare of CRPS. With a flare, I get severe pain in my legs. They feel like they are on fire and even the breeze blowing against my legs is excruciatingly painful. Hopefully, having just removed the hardware, this particular flare will subside and I’ll return to baseline shortly. In the meantime I will work on desensitization techniques by using different textures to rub on the problematic area(a).

For GI issues (gastroparesis), I am not sure what a flare is at this point as I haven’t tolerated food in a very long time. If not tolerating food is a flare then I have been stuck in this flare for 2 years.

Flares are frustrating but inevitable. Sometimes they occur with no known trigger or reason. Other times they occur as a result of pushing yourself. Often times, multiple problems are flaring at the same time. It is exhausting and just adds to my baseline fatigue. But you can’t stop living your life just to avoid the repercussions. It’s important to find a balance.

It is important to remember that there are many faces to chronic illness and everyone experiences flares and symptoms differently. 

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My "Normal" with EDS

I often hear comments such as "get well soon," "that must be rough to have all of that in the summer," and "hope your recovery goes smoothly" from people when I am out somewhere. One time a lady even approached my mom to tell her she was thankful I survived whatever it was that happened to me.

I realize their intentions are good, but the funny thing is....the braces, the crutches/wheelchair, the mask, the port...that's part of my normal...everyday.


So what is my normal really like?

This is a difficult question (at least lately) because my “normal” or baseline changes weekly.

For me, my “normal” involves multiple joint dislocations everyday (most notably my kneecap, shoulder, ribs, and right hip--but this too can change on any given day), an average pain score of 6/10, daily headaches and neurological symptoms from craniocervical instability, allergic reactions to God only knows what, random POTS episodes with pre-syncope and/or syncope, difficulty tolerating food, weekly IV infusions for blood pressure and heart rate, and unrelenting fatigue/exhaustion.

Everyday I wear a knee brace to hopefully decrease the number of dislocations and subluxations I experience (it still doesn’t stay in place). I wear an ankle brace (or walking boot when I break my foot) to prevent my ankle from rolling out (inversion). I sometimes wear a hip brace to limit extension and hopefully prevent my hip from sliding out the front. With bad shoulder dislocations I often need to spend a few days in a pillow sling. When headaches and neuro symptoms (from neck instability) are really bad I use a cervical collar until my neck can be assessed by my physical therapist.

I use either crutches or a wheelchair everyday due to pain, fatigue, joint instability, and POTS.

My week consists of physical therapy 2-3x and multiple appointments. Unfortunately I am unable to work at this time but hope to contribute in a meaningful way one day.

Life with EDS is frustrating and unpredictable. But with every curveball I just try to keep swinging.

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Chiari, Craniocervical Instability, and Headaches

As has been mentioned in the past on this blog, I was diagnosed with Chiari Malformation (8.5mm herniation) and Craniocervical Instability (C1-C2) in 2011. Chiari and craniocervical instability are both seen in EDS patients, though the connection between EDS and Chiari is not fully understood.

Chiari Malformation is a neurological disorder where part of the brain (the cerebellar tonsils) herniates or descends out of the skull into the spinal canal. This results in compression of the spinal cord and brain stem. As a result, this compression disrupts the normal flow of cerebrospinal fluid (CSF) leading to disabling neurological symptoms (headaches, occipital neuralgia, numbness and tingling in hands and feet, weakness, nausea/vomiting, dizziness, low blood pressure, and many more).

In December 2014, I underwent a posterior fossa decompression with C1 laminectomy and partial duraplasty in order to relieve the compression on my brain, brain stem, and spinal cord. We had hoped that this procedure would improve my quality of life greatly by decreasing or eliminating my headaches and other neurological symptoms. Unfortunately, that is not what happened.

I am not going to review all of the details of recovery as that can be seen here (update 1, update 2, update 3, update 4, update 5), but it became clear that there were multiple factors contributing to my headaches (something I did not want to consider prior to the decompression). Brain surgery addressed the brain stem compression, and while that didn't eliminate my headaches entirely, it was still necessary. However, what was not addressed in that surgery was craniocervical instability or an unstable cervical spine.

Craniocervical instability (CCI) is a structural instability of the craniocervical junction (where the skull and neck meet), which can lead to deformation of the brain stem, upper spinal cord, and cerebellum (lower part of the brain). It is primarily seen in patients with EDS and other hereditary disorders of connective tissue. In severe cases a cranoicervical or cervical fusion may be necessary.

Symptoms of Craniocervical Instability include (but are not limited to):

• Headaches
• Often pressure-like--typically the result of impaired CSF flow
• Occipital neuralgia 
• Sharp, knife-stabbing, shooting pain often one sided (can be bilateral) that travels from the base up the skull up to behind the eye
• Neck pain
• Difficulty holding one's head up (bobble-head)
• Vision changes 
• Dysautonomia
• Facial pain/numbness
• Sleep apnea
• Nausea/vomiting 
• Nystagmus 
• Difficulty swallowing
• Balance problems 
• Hearing loss/tinnitus/auditory changes
• Impaired coordination 
• Brain fog and cognitive challenges

Not every individual with craniocervical instability (CCI) experiences all of the above symptoms (and some may experience symptoms not listed). Symptoms may be constant or intermittent depending on the position of the cervical spine.

I know patients with CCI (myself included) that have a few symptoms that almost always mean there is a rotation and many individuals can tell you where that rotation is. For example, when I have left sided vision changes and occipital neuralgia we typically find that C2 is rotated. Of course I also usually have a headache and other symptoms but those 2 in combination usually leads us to believe there is a rotation that needs to be addressed.

I have been in physical therapy for craniocervical instability for nearly two years. PT consists of manual therapy to reduce the muscle tension and spasms in the upper back, scapula, shoulder, and neck in order to allow the vertebrae to sit in a better position. Because of EDS and my weak connective tissue, the muscles in my neck and upper back are forced to work extremely hard in order to stabilize the c-spine. This causes severe muscle tension which pulls on the vertebrae and can lead to rotations, subluxations, and imbalances. Cervical spine PT can be very frustrating. Progress is slow and seemingly overnight any progress we do make can be undone. We may take a step forward, only to take 5 steps back on any given week. However, without PT my neck pain, headaches and other neurological symptoms would be significantly worse.  When my symptoms are unmanageable I use a cervical collar (Miami J) to prevent any more subluxations/rotations and to reduce worsening muscle tension until I can be assessed by my physical therapist. I try to avoid the cervical collar as much as possible because my neck muscles tend to "forget" to hold my head up when I use the cervical collar, which makes weaning out of it very difficult.

Headaches and other neurological symptoms are a constant in my life and management is difficult, but as of now my goal is to avoid a cervical fusion and continue with physical therapy and my cervical collar as needed.

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