A Guide to Ehlers-Danlos Syndrome
My daughter had left for school only a few minutes earlier when my cell phone rang.
“I think I just dislocated my shoulder,” she said.
“WHAT???” I responded.
“It popped out when I closed the car door, and now it hurts,” she said. Of course, she went right into the school and pushed through the day like nothing was wrong. And in a a few days, her pain resolved.
Cut to a month or so later, when she said she sprained her ankles after wearing high heels. My mom mind was thinking “what is going on?” but we had been around the block with doctors enough to know that they were not going to help. Several of these perplexing incidents occurred until we finally, unexpectedly got an answer from our physical therapist. He had run a series of tests on her and believed she had Ehlers-Danlos Syndrome.
Most people hear the term “Ehlers-Danlos Syndrome” and have no idea what it means…and that included us. While online research indicated that this was likely Grace’s diagnosis, her doctors literally looked like deer in the headlights when I brought it up. While it is increasingly common, there is still little acknowledgement of it by the medical community or the general public. This makes it very difficult for sufferers to get a diagnosis, information or help for their condition. After years of doing our own research, I have put together a guide.
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos is a set of connective tissue disorders affecting different parts of the body. Connective tissues include collagen and elastic fibers, cells, and the extracellular matrix. Tendons and ligaments are made of dense connective tissue. People who have Ehlers-Danlos often have genetic mutations that affect how collagen is synthesized.
Symptoms of classic Ehlers-Danlos:
Joint hypermobility
Skin hyperextendibility
Scarring from poor wound healing
Muscle fatigue and cramps
Mild scoliosis
Delayed motor development
Blood vessel fragility
Variations may include the above symptoms and others more specific to the type:
Vascular:
Fragile, thin skin
Fragile blood vessels
Translucent skin
Ruptures in blood vessels, uterus, and intestines
Dermatosparaxis:
Extremely fragile and lax skin
Periodontal:
Periodontitis and tooth root absorption
Hypermobile:
Joint weakness and pain: dislocations
Nerve pain
Muscle pain
This is currently the only type that is diagnosed by symptoms and not genes. Symptoms usually appear in childhood. This may also be diagnosed as Hypermobility Spectrum Disorder.
Other conditions that may accompany an EDS/HSD diagnosis:
POTS (Postural Orthostatic Tachycardia Syndrome), which causes heart rate variations when standing up or sitting down
MCAS (Mast Cell Activation Syndrome), an overactive immune system response
Fibromyalgia, a chronic nerve pain condition
TREATMENTS:
Supplements:
Vitamin C: helps collagen synthesis and joint stability
Vitamin D: helps with bone health and muscle strength
Zinc: helps develop connective tissue
MSM: supports bone and collagen function; maintains joint and artery flexibility
PQQ and CoQ-10: improves mitochondrial function, which enhances energy production and reduces fatigue and muscle weakness
Glucosamine: supports and repairs joints and connective tissue
Magnesium: helps relieve muscle aches and supports joint stability
Collagen supplements DO NOT help people with EDS because they are broken down in digestion with the intent that they will help re-build collagen in the body: people with EDS have impairments with collagen synthesis which renders the collagen ineffective.
Nutrition:
Avoiding gluten, maintaining a healthy gut and eating a clean diet reduces inflammation
A high-protein diet can help build muscle
Physical Supports:
Proprioceptive braces: proprioception is the ability to sense the body’s position and movement. These braces help support awareness through pressure on the skin.
Functional non-immobilizing splints and braces: these are used to allow movement through a controlled range of motion. These may include ring splints for the fingers when writing; or the Richie ankle brace for walking.
Resting splints and braces: these are inflexible (rigid) and may be worn for injury prevention and pain reduction, particularly when there is significant joint instability and pain.
Physical therapy and muscle strengthening are likely the best treatment for EDS. Physical therapists can identify which joints need support and what exercises will strengthen the muscles surrounding them. Stronger muscles help support the lax joints and keep them in place. It is extremely important to find a physical therapist who understands Ehlers-Danlos so that they can maximize benefits without causing injuries.
As of right now, finding a doctor who can diagnose and advise you can be nearly impossible. (Most doctors do not even know what type of specialist to refer to for this.) The Ehlers-Danlos Society website (ehlers-danlos.com) is probably the best source of information. For hypermobile EDS, or HSD, a good physical therapist will be your best bet for getting stronger while avoiding injuries. I cannot stress enough, it can be VERY DANGEROUS to take matters into your own hands with physical activity…it is important to be conservative and safe unless under the watchful eye of a knowledgeable physical therapist. With cases on the uptick, hopefully more solutions (or at least support) for Ehlers-Danlos will be available in the near future.
