Tag: genetics

on being a zebra (unicorn)

May is EDS & HSD Awareness Month. EDS stands for Ehlers-Danlos Syndrome and HSD for Hypermobility Spectrum Disorder. They are a group of inherited connective tissue disorders that remain under-diagnosed and under-treated. Case in point: I was diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS) in January at the age of 65, making sense of decades-worth of unexplained symptoms.

The Ehlers-Danlos Society uses the zebra as a symbol of the EDS/HSD community because there is a saying among the medical community that “when you hear hoofbeats, think horses, not zebras” but, sometimes, there really are zebras. Zebras also each have their unique stripe pattern, in the same way that people with EDS/HSD have their own unique presentation, depending on how their collagen and connective tissue is impacted across different body systems at that particular time in their life. The medical system in the United States and in many other countries tends to divvy medical care to specialists who only look at one body system but connective tissue disorders are easier to recognize if one takes a more integrative approach.

And a fun zebra fact: A group of zebras is called a dazzle, which leads to the Ehlers-Danlos Society saying, “Together, we dazzle!”

As I’ve continued to research hEDS, I’ve been engaging in personal forensic diagnostics. So many things I have experienced in my life make sense now that I know of my genetic inheritence of hEDS. For example, I developed tendon problems in my elbow as a young teen which impacted my abilities as a pianist and organist. When I eventually had to resort to surgery in my thirties, the outcome wasn’t as expected and I had to give up playing. I now understand that this was due to my hEDS inherited collagen defects.

My IBS, IC, endometriosis, vulvodynia, pre-term labor, allergies, mast cell activation disorder, cervical instability, near-sightedness, depression/anxiety, cerebellar ectopia, sleep apnea, early gall bladder disease, hiatal hernia, acid reflux, chronic fatigue, diverticulosis, chronic kidney disease, sensitive skin, joints that bend more than expected, and more all have a connective tissue component and are more likely in people with EDS/HSD.

Daughter T gave me the zebra unicorn pin as a gift. While the zebra is the symbol of EDS/HSD, adding the unicorn element helps to play up the uniqueness of each individual.

And it’s super cute!

The point is that another person with hEDS could exhibit a totally different set of symptoms from mine or we could share some symptoms and not others. It just depends on which connective tissues are compromised and how much at that particular time. Other factors are involved, too, like age, activity level, hormone and endocrine function, etc. It adds to the zebra-unicorn element and takes a thoughtful and informed practitioner to pick up on the possibility of an underlying connective disorder behind all the symptoms of different body parts.

In December, there will be an update to the EDS/HSD diagnostic guidelines. My hope is that the medical community will use these and the best practices guidelines that will follow in spring 2027 to finally look more comprehensively at their patients and diagnose and help them at much younger ages than currently.

Some people are also under the mistaken impression that it doesn’t do any good to give a diagnosis when you can’t cure the disorder. While it’s true that we can’t current treat the genetic cause, there are treatments to help alleviate many of the symptoms. It’s also imperative for practitioners to know the EDS/HSD status for anyone who is contemplating surgery. Surgeons need to know about connective tissue differences so that they can compensate for that during the procedure and the recovery protocols or, perhaps, decide that surgery is not appropriate. Many EDS/HSD patients also need long-term physical therapy to help them function; it makes a huge difference if physical therapists are knowledgeable about connective tissue disorders so that they help rather than hurt.

As I continue my journey with hEDS, I will keep you posted here at Top of JC’s Mind. If we are super-lucky and we find effective treatment for my brain fog and fatigue, I may even post more regularly.

I will, though, always remain my unique, zebra-unicorn self.

EDS/HSD Primer

May is EDS & HSD Awareness Month and I promised to do some posts on it. I had hoped to get this first post out earlier in the month but I’m having some difficulties with an hEDS flare, which has slowed me down a bit.

Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD) are heritable connective tissue disorders. There are 13 types of EDS. In 12 of those types, the exact genetic cause has been identified. Some of these types are very rare, affecting less than one in a million people. The most common form of EDS is hypermobile (hEDS), which is known to be inherited in an autosomal dominant pattern but appears to have a more complex genetic profile. The prevalence of hEDS is unknown because it is very often missed diagnostically. Case in point, I was diagnosed at age 65.

HSD is related to hEDS, usually involving fewer hypermobile joints than most people with hEDS. While some clinicians and researchers look at HSD and hEDS as separate disroders, others look at hEDS as occupying a certain segment of the hypermobile spectrum. In December, 2026, updated diagnostic criteria will be published, with best practices to follow in spring ’27. It will be interesting to see if hEDS and HSD will be merged into a single diagnosis.

One of the difficulties with obtaining a diagnosis with EDS or HSD is that they present in different ways in different individuals and can vary with age. All forms of EDS/HSD affect connective tissue, making it stretchier than is typical, often due to genetic impacts on the proteins involved in collagen production. Symptoms appear throughout the body and in different body systems. The charts at the top gives you some idea of how wide-ranging the symptoms can be. Thankfully, no one has all the symptoms but when tends to happen in the medical systems in most countries is that you see separate specialists for different body systems and there is no one with enough knowledge to integrate all the information and realize that connective tissue is the common denominator underlying it all.

Because EDS/HSD are genetic in origin, treatment revolves around symptoms. Physical therapy is often a big part of the treatment plan. There are medications, vitamins, and supplements to help certain aspects of the disorder, too. For example, I have a mast cell activation disorder as part of my hEDS and take several medications to help relieve respiratory and gastrointestinal symptoms.

Having an EDS/HSD diagnosis also allows your care team to keep an eye out for conditions that may develop, such as heart valve problems. It’s very important for surgeons to know if your connective tissues are not typical, as this may impact how a procedure is done or if it should be done at all. How well medications work and the dosages required can also differ. For example, my hEDS diagnosis explained why topical anethetics, like lidocaine, don’t work well for me.

I am hoping that, when the new diagnostic criteria are published, there will be increased awareness of inherited connective tissue disorders among both the medical community and the general public. For too long, symptoms have been dismissed as unrelated, idiopathic, stress-induced, hormonal, anxety-induced, unimportant, or imaginary. Like autoimmune diseases, these disorders are more prevalent in females than males, adding to the burden of being taken seriously and the dearth of studies.

The Ehlers-Danlos Society is an important organization spearheading study, training, education, and treatment of EDS/HSD internationally. Their website is a great source of information for patients and their families, as well as for clinicians and researchers. This month, as we raise awareness, my hope is that more people will learn about EDS/HSD and help those affected get the diagnosis, treatment, and validation they deserve.

a diagnosis (finally)

While I would usually be posting on the Stream of Consciousness Saturday prompt today, I’m opting instead for doing an edited Just Jot It January post.

Okay, this is going to be more than a “jot” but will be something that I feel compelled to give an update to the usual crowd of SoCS participants.

Since March, 2024, I’ve been having a growing array of odd symptoms – I won’t bore you with the whole list – that have been interfering with my ability to function. The brain fog and fatigue have been especially problematic.

I’ve posted variously about these symptoms and their impact on my life. Along the way, I’ve been diagnosed with a number of conditions that affect a certain body part or system but have always felt that these different symptoms were related.

This week, I finally have an answer. I’ve been diagnosed with hypermobile Ehlers-Danlos Syndrome (hEDS). hEDS is an inherited connective tissue disorder. Because we have connective tissues throughout our bodies, it impacts many different parts and systems of the body. Each individual with hEDS has their own unique combination of symptoms which may change over time. While hEDS follows an autosomal dominant inheritance pattern, the specific genes underlying it have not yet been identified. Because there is currently no test that detects hEDS, it tends to be missed, especially because there is no medical specialty dedicated to connective tissues.

Just in case you were wondering how a 65-year-old gets an initial diagnois of a genetic disorder. My (embarrassingly large) number of medical practitioners have spent the last almost two years ruling out various diagnoses or diagnosing component parties of hEDS without putting all the pieces together. I’ve learned from patient advocacy groups that there are other people who were not diagnosed until their fifties, sixties, or even older.

I actually was pretty sure I had either hEDS or the related condition, hypermobility spectrum disorder (HSD), 19 months ago. A close family member was facing an unusual medical condition that required surgery and her doctor realized that her connective tissues were not responding in a typical way. She suggested that there might be a connective tissue disorder present and advised seeing a geneticist physician. In assembling a full family history and researching hEDS/HSD with my family member, I felt that my body made sense for the first time.

I was excited and told my primary care doctor, but she felt we had to rule out every other possible cause of my symptoms first. Even when my family member was diagnosed with hEDS last June and the genetic connection was clear, my medical team was still not making the diagnosis.

That changed when I was finally able to see a nurse-practitioner who specializes in integrative/supportive medicine. With my records, family history, symptoms, and physical exam, she was able to diagnose me with hEDS and, importantly, to order additional tests to help pinpoint the cause of my current symptoms. She also knows where to send me for treatment, which will be especially important if I need to have surgery.

hEDS affects more women than men, so, no surprise, the symptoms tend to be written off as stress- or hormone-induced. I particularly remember having to explain to a doctor that I could tell the difference between brain fog and writer’s block. I also faced skepticism that I could be this old without any medical professionals realizing I have a genetic disorder, but, as others have pointed out, that should be a reflection on them, not me. Education about inherited connective tissue disorders has been lacking in medical education but I am hopeful that new research will break through and raise awareness so that it’s easier for people with hEDS/HSD to be diagnosed and treated appropriately much earlier in their lives.

I am trying to do my part by sharing my story and accurate information. As my treatment plan develops, I’ll post about it.

I must say, though, that the people who have been most helpful to me have been my physical therapists. Although my lead therapist realized that I have a connective tissue disorder and has been helping me to strengthen muscles and improve my posture, along with heat, massage, and stretching, she isn’t allowed to make medical diagnoses. She is also happy that I finally have an official hEDS diagnosis. The hope is that the additional tests I will now have will give us more data on how best to address my symptoms.

Obviously, a genetic disorder like this can’t be cured, but we should be able to improve at least some of my symptoms. For now, it feels good to have validation that there are reasons why my body reacts as it does. No more doctors implying that it’s all in my head or that I just need to reduce stress. Maybe some of them will even be moved to learn more about inherited connective tissue disorders.

They may even find that there are a lot more of us than they realized…
*****
For more information on joining in with Stream of Consciousness Saturday and/or Just Jot It January, please visit Linda’s blog here: https://lindaghill.com/2026/01/16/the-friday-reminder-for-socs-jusjojan-2026-daily-prompt-for-jan-17th/

EDS/HSD Awareness Month

May is Ehler-Danlos Syndrome/Hypermobility Spectrum Disorder Awareness Month, begun by the Ehlers-Danlos Society to bring attention to this family of connective tissue disorders which affect millions of people around the world, many of whom will take decades to be diagnosed while others will never know for sure what causes their bodies to exhibit an unusual constellation of symptoms. I apologize for being late to the effort, although I did do one awareness post here for One-Liner Wednesday and shared some informative posts via Facebook. It’s been a bit of a rough month for me.

I am one of those people who is yet to be officially diagnosed, despite decades of symptoms, though I will spare you the details of my specific case.

The Ehlers-Danlos Society is a great resource for information about both Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD), both for individuals and for clinicians and researchers. It also plays a role in funding research around the world for these connective tissue disorders. There is a lot to know but I will just give a broad outline here.

EDS is a group of inherited connective tissue disorders, currently classified into 13 types. Twelve of the types have a known genetic cause, where a chromosome affects a particular protein, and can be identified with testing. Some of these affect less than one in a million people.

The largest group of people with EDS, though, have hypermobile EDS (hEDS), estimated to affect 3,100-5,000 people per million. While it is known to have a dominant genetic inheritance pattern, the genes or groups of genes responsible have not yet been identified. There is some question among researchers and clinicians if hEDS should remain classified as a form of EDS or if it should be considered as part of Hypermobility Spectrum Disorder in which the hypermobility is more widespread and severe than in most people with HSD.

In HSD, people exhibit joint hypermobility/instability in at least one joint, which may suffer frequent sprains, pain, subluxation/dislocation, joint or soft tissue damage, and/or early arthritis. They may also have poor proprioception, which means they can have difficulty with awareness of their bodies’ position or movement, for example, being clumsy.

They may also have symptoms over many parts/systems of their body. Fatigue, headaches, gastrointestinal problems, autonomic dysfunction, and anxiety are some of the kinds of symptoms that can be part of HSD, with each person exhibiting a different constellation of symptoms which may shift over time. This makes sense in that we have connective tissue throughout our bodies, so symptoms as diverse as unusually stretchy or delicate skin, a frequently sprained ankle, irritable bowel syndrome, and blood vessel problems can all be related through differences in the way connective tissues behave in the body. We don’t know how prevalent HSD is, because the current classification system dates from only 2017, our current medical system tends to silo various body systems into separate specialties – without there being any specialists in connective tissues – and most primary care providers haven’t been taught to recognize it. This often leaves patients in the uncomfortable position of having pieced together their own diagnosis but not being able to find a doctor willing to consider it.

I feel that it is important to be properly diagnosed, even though, as inherited conditions, EDS/HSD cannot be “cured.” It helps to know about the underlying cause in order to treat symptoms more effectively. For example, physical therapy may need to be prescribed for a longer period of time with more gentle techniques to avoid further tissue damage. Surgeries may need to be modified to better support lax connective tissue. Knowing what other symptoms may arise that are connected to EDS/HSD is also helpful, along with awareness that connective tissue disorders can help explain some disorders, such as irritable bowel syndrome, that have often been written off as idiopathic.

As EDS/HSD Awareness Month draws to a close, I’d like to thank the Ehlers-Danlos Society for their valuable work in raising awareness of these conditions, advocating for patients, disseminating information, and spearheading research into these connective tissue disorders. Maybe, as more people and, critically, more health care providers learn more about these disorders, patients will be diagnosed and treated more quickly and effectively.

I hope.

(About the photo: Doctors are taught in med school that “when you hear hoofbeats, think horses, not zebras.” However, sometimes, it is actually zebras! Zebras have come to signify EDS/HSD. My daughter T gave me this zebra unicorn pin in that spirit.)

Songbird smarts

Thanks again to Steph of Partial Ellipsis of the Sun for another fascinating post! Here she writes and posts lovely and informative pictures on songbirds, their songs, and the brains behind it all:
https://wordwomanpartialellipsisofthesun.blogspot.com/2017/05/birdsong-and-creativity-songbirds-name.html
At the moment, we have a robin’s nest resting in the crook of the downspout near our back door. No eggs yet, but we’ll see.

Discovering Dyslexia

This is my comment on this post:  https://beyondtheflow.wordpress.com/2015/08/05/the-journey-of-a-thousand-books-sets-sail/ from Rowena of Beyond the Flow. I thought readers here would appreciate it, too.

The most compelling reading story in my family is my niece Skye. She was struggling with reading and her school was not being very helpful. My sister finally took her to a specialist for evaluation and they discovered that she had a form of inherited dyslexia. My sister was perplexed, as she didn’t know of anyone in our family who was affected. When she told my parents about the diagnosis, my father recognized that Skye had the same problems that he did. At the age of 80, he discovered that the reading difficulties that he had worked around his whole life, without telling anyone about it, were caused by dyslexia! Skye’s older brother with the help of his parents started raising funds for the organization that was aiding Skye to help her access the world of books and Skye took on the project when she was older. It became known as The Paco Project. There is a video on the site telling the story of Skye and her grandfather, whom we call Paco.

As Skye was in her high school years, she became an advocate for dyslexic students in New York City, where she lives, and for other kids who were being marginalized for other reasons. As its final project, The Paco Project raised $25,000 to help NYC kids who needed help with reading. In a few weeks, Skye will start college. She will be studying Early Childhood Education, with an eye to spotting potential reading problems in pre-schoolers, so that they always have the tools they need to succeed. We are all so proud of her and my dad for what they have done to help others.