The Curious Case of Bendy Betty

The Time Betty Outdid a Yogi

Once upon a time, there was a girl named Betty. She was your average, everyday girl, but with a twist: she was unusually flexible! One day, Betty found herself in a yoga class. As she mindfully stretched into positions that made her classmates gawk, she couldn't help but wonder if there was more to her bendiness than met the eye.

Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect the connective tissues in the body. These tissues are like the glue that holds everything together - from your skin and joints to your blood vessels. When you have EDS, your body's connective tissue is weaker, making you more susceptible to injury and causing a range of symptoms.

Living with EDS can be challenging, but by staying informed, proactive, and advocating for oneself, it's possible to lead a fulfilling life.

There are 13 subtypes of EDS, each with its unique set of symptoms and severity. The most common type, hypermobile EDS, is characterized by joint hypermobility (like our bendy friend Betty), skin that's soft and easily bruised, and chronic pain.

Many Shapes of the Devil

There are 13 subtypes of EDS, each with distinct genetic causes and clinical features. Here is a list of the 13 types:

1. Classical EDS (cEDS): This subtype is characterized by hyper-elastic skin, atrophic scarring, and joint hypermobility. It is caused by mutations in the COL5A1 or COL5A2 genes.

2. Classical-like EDS (clEDS): Similar to cEDS, clEDS involves skin hyperextensibility and joint hypermobility but has fewer scars. It is caused by mutations in the TNXB gene.

3. Cardiac-valvular EDS (cvEDS): This rare subtype is associated with severe cardiac-valvular problems, joint hypermobility, and skin changes. It is caused by mutations in the COL1A2 gene.

4. Vascular EDS (vEDS): This subtype is characterized by thin, translucent skin, easy bruising, and a high risk of arterial, intestinal, and uterine rupture. It is caused by mutations in the COL3A1 gene.

5. Hypermobile EDS (hEDS): The most common subtype, hEDS is characterized by generalized joint hypermobility, chronic pain, and skin involvement. The genetic cause of hEDS is not well understood, and diagnosis is based on clinical criteria.

6. Arthrochalasia EDS (aEDS): This subtype is characterized by severe joint hypermobility, dislocations, and skin involvement. It is caused by mutations in the COL1A1 or COL1A2 genes.

7. Dermatosparaxis EDS (dEDS): This subtype involves extremely fragile skin, sagging, and easy bruising. It is caused by mutations in the ADAMTS2 gene.

8. Kyphoscoliotic EDS (kEDS): This subtype is associated with progressive scoliosis, joint hypermobility, and muscle hypotonia. It is caused by mutations in the PLOD1 or FKBP14 genes.

9. Brittle cornea syndrome (BCS): This subtype is characterized by extreme corneal thinning and fragility, leading to a high risk of corneal rupture. It is caused by mutations in the ZNF469 or PRDM5 genes.

10. Spondylodysplastic EDS (spEDS): This subtype involves short stature, muscle hypotonia, joint hypermobility, and skin changes. It is caused by mutations in the B4GALT7, B3GALT6, or SLC39A13 genes.

11. Musculocontractural EDS (mcEDS): This subtype is characterized by multiple congenital contractures, joint hypermobility, and skin involvement. It is caused by mutations in the CHST14 or DSE genes.

12. Myopathic EDS (mEDS): This rare subtype is characterized by muscle hypotonia, joint hypermobility, and skin changes. It is caused by mutations in the COL12A1 gene.

13. Periodontal EDS (pEDS): This subtype involves severe periodontal disease, leading to early tooth loss, joint hypermobility, and skin changes. It is caused by mutations in the C1R or C1S genes.

Don't forget that research on EDS is ongoing, and classifications and understanding of the various subtypes may change over time!!! If you suspect you or someone you know may have EDS, consult a healthcare professional for a comprehensive evaluation and appropriate guidance.

The Great Paper Cut Debacle of '22

One day, Betty was opening a letter when she accidentally gave herself a paper cut. "Ouch!" she exclaimed, expecting a little blood and a bit of pain. To her surprise, her small wound bled more than she thought it would, and the healing process seemed to take forever.

As it turns out, people with EDS often experience easy bruising and poor wound healing. This is because the connective tissue in their blood vessels is also affected, making them more fragile and prone to injury. Additionally, EDS can cause a slower healing process due to the body's inability to produce strong, stable scar tissue.

If you find yourself sporting more bruises than a peach in a grocery store, or if your cuts and scrapes take their sweet time healing, you might want to consider the possibility of EDS. It's always better to know what you're dealing with, so you can take the necessary precautions to protect yourself.

Betty's Trampoline Adventure

One sunny day, Betty and her friends decided to go trampoline jumping. After a few minutes of bouncing, Betty landed awkwardly and heard a "pop" in her knee. She winced, thinking she'd be fine in a few days. But weeks later, her knee was still swollen and painful.

Joint instability is a common symptom of EDS, especially in the hypermobile subtype. This can lead to frequent dislocations or subluxations (partial dislocations), chronic pain, and early-onset osteoarthritis. To minimize the risk of injury, it's essential for people with EDS to be mindful of their activities and choose exercises that won't put too much strain on their joints.

Physical therapy can be incredibly helpful for those with EDS, as it can help strengthen the muscles around the joints and increase stability. Betty learned the hard way that trampoline jumping might not be the best activity for her, but that doesn't mean she can't enjoy other forms of exercise that are safer for her joints.

The Day Betty Became a Human Slinky

During a family game night, Betty's cousin challenged her to a flexibility contest. Betty, ever the competitive spirit, eagerly accepted. As they contorted their bodies into pretzel-like shapes, everyone gathered around to watch in awe.

While extreme flexibility can be a neat party trick, it's not always a sign of good health. In fact, for people with EDS, it can be a red flag. Joint hypermobility, or the ability to move joints beyond the normal range of motion, is one of the hallmark symptoms of EDS, particularly the hypermobile subtype.

The Beighton Score is a quick and easy test used to assess joint hypermobility. It looks at the flexibility of your knees, elbows, thumbs, little fingers, and spine. A high score on the Beighton test, along with other symptoms, might indicate the need for further evaluation for EDS.

Betty's Brush with the "Zebra"

Halloween was Betty's favorite holiday, and she always went all out with her costume. One year, she dressed as a zebra, and her friends jokingly called her "EDS Betty." Little did they know, the zebra is actually the mascot for EDS!

In the medical world, there's a saying: "When you hear hoofbeats, think horses, not zebras." This means that doctors should look for the most common explanation for a patient's symptoms, rather than a rare one. However, people with EDS are often referred to as "medical zebras" because their condition is rare and can be difficult to diagnose.

The zebra has become a symbol of hope and unity for those with EDS, reminding them that they are not alone in their struggles. Sometimes, it's important to remember that zebras do exist, and their stripes are just as beautiful and unique as anyone else's.

The Chronicles of Betty's Tummy Troubles

Betty's stomach always seemed to have a mind of its own. One day it was happy as a clam, the next it was staging a full-blown rebellion. She'd tried every diet under the sun, but nothing seemed to help.

Digestive issues are common in people with EDS due to the connective tissue's involvement in the gastrointestinal tract. Symptoms can include abdominal pain, bloating, constipation, diarrhea, and even gastroparesis (delayed stomach emptying). To manage these issues, a well-balanced diet, proper hydration, and consultation with a medical professional are essential.

Betty may not have found the magic cure for her tummy troubles, but by staying proactive and working with her healthcare team, she can make her life more comfortable and enjoyable.

Betty and the Unfortunate Insomnia Incident

Sleep was never Betty's strong suit. She'd toss and turn, count sheep, and even tried the whole "warm milk before bed" thing. But nothing seemed to work. Betty was a full-fledged insomniac, and she needed answers.

Sleep disturbances are common in people with EDS, often due to chronic pain, anxiety, or a coexisting condition called Postural Orthostatic Tachycardia Syndrome (POTS). To improve sleep quality, establishing good sleep hygiene, seeking medical advice, and addressing any underlying issues can be beneficial.

Betty might not be a champion sleeper just yet, but she's got the tools to work towards a more restful night and a brighter tomorrow.

The Mystery of the Vanishing Jaw

One day, while chatting with her friends, Betty's jaw suddenly locked up, leaving her speechless (literally). After a few minutes, it went back to normal, but the experience left her puzzled.

Temporomandibular Joint Dysfunction (TMJ) is a common issue in people with EDS, causing jaw pain, difficulty chewing, and even lockjaw. Treatment options can include dental appliances, pain management, and physical therapy to improve jaw function.

Betty's jaw might have tried to vanish on her, but with proper care, she's learned how to keep it in check and carry on with her social butterfly ways.

The Great Posture Pursuit

Betty was always getting nagged about her posture. "Sit up straight!" her mom would chide. But it seemed like no matter how hard she tried, her spine had a mind of its own.

Scoliosis, or an abnormal curvature of the spine, can be more common in people with EDS due to the connective tissue's role in supporting the spine. Treatment options can include bracing, physical therapy, and in severe cases, surgery.

Betty might never have the perfect posture, but she knows the importance of staying proactive in her spinal health to prevent further complications.

The Day Betty Became Her Own Advocate

After a long journey of discovery, Betty finally received a diagnosis of Ehlers-Danlos Syndrome. It wasn't an easy road, but she became her own advocate, researching her symptoms, connecting with others, and pushing for answers.

Final Words

Living with Ehlers-Danlos Syndrome can be challenging, but with education, awareness, and a strong support system, individuals with EDS can thrive. By understanding the causes and symptoms of the condition, implementing effective management strategies, and addressing mental health challenges, those with EDS can lead fulfilling lives. Let's continue to raise awareness, share our stories, and support one another on this journey.