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The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability

*The names of some subjects interviewed for the post have been changed to protect their privacy. These changes are denoted by an asterisk (*).

Chiari Malformation Awareness Ribbon displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.
September is Chiari Awareness Month

In my first post on Chiari malformation, I outlined the standard procedures for the treatment and diagnosis of craniocervical junction disorders, primarily Chiari malformation, though also touching briefly on Craniocervical Instability. I also highlighted a few of the issues with getting a proper diagnosis, due to the improper use of traditional horizontal (supine) imaging techniques as the standard of diagnosis, which is propelled by a lack of knowledge, training and availability, even in some teaching hospitals and medical centers that tout their use of cutting edge technology.

While my focus in this series is on Chiari malformation and craniocervical instability because these are the two most commons forms of craniocervical junction disorders associated with Ehlers-Danlos Syndrome, it’s important to understand that there are many forms of craniocervical junction disorders and that diagnosis and treatment of all of these conditions are problematic. At times, I will discuss CJD as a whole, because there is research which impacts them all and I feel they’re all interrelated, as are many of the secondary conditions that tend to develop with CJD.

I do this also in part because, as one researcher noted in the literature I reviewed for this series, there is little consensus on the diagnosis and treatment of these disorders, even their classification. For example, while some experts consider craniocervical instability as part of Chiari type I while others have labeled it Chiari 0 and others insist it is an entirely separate entity and shouldn’t be categorized as a Chiari malformation at all. These discrepancies aside, all of these disorders can exist alone or in unison and whether wholly congenital, caused by illness, injury or hypermobility, every patient with CJD deserves a thorough workup with the use of proper imaging to ensure the most successful procedures possible.

The underdiagnosis and mistreatment of Craniocervical junction disorders are experienced worldwide, in both private and public healthcare systems today. We will explore this phenomenon through the use of two primary sources; a review of current literature available on the subject and direct patient feedback I collected through interviews conducted in writing with people who have been diagnosed with Chiari and craniocervical instability (CCI), also known as Occipitoatlantialaxial Hypermobility.

While I am happy to be able to share a few success stories, my review was rather disheartening. Information on the subject of the proper treatment and management of craniocervical junction disorders is readily available, yet it is not being utilized by the people making decisions about the processes and procedures necessary to come to or rule out a diagnosis of a craniocervical junction disorder (CJD), let alone how to treat it with precision for better surgical outcomes for patients, with the exception of a select few “Chiari experts” worldwide. These doctors are few and far between and are often difficult for patients to connect with due to issues of location, socio-economic status (including insurance coverage, if any is even accepted by these doctors).

Poor Training and Availability of Testing Persist in the World’s Richest Countries, Regardless of the Healthcare System’s Structure

The best information I found was out of India, where the prevalence of CJD is higher than anywhere else. Given the range of techniques performed to gain accurate measurements based on positioning (the use of Upright [functional] MRI, flexion and extension positioning in MR imaging) and investigation of CSF flow and movement through the use of dynamic cine MRI, one must ask themselves if perhaps the higher number in cases in India can be partially accounted for by their use of advanced techniques. They have taken the time to carefully investigate the most useful and varied methods of diagnosis, therefore uncovering the actual variety of these disorders that do not show up with the supine positioning of the patient in traditional MRI.

In many cases, available options for patients in publicly funded healthcare settings are even worse than those living in countries with privatized healthcare, where patients with rare disease requiring specialized care are often left to fend for themselves. Privatized healthcare systems can’t attract top experts and are unwilling to pay premium pricing to help what they consider to be a small portion of the population. In Canada and the UK both, patients are forced to seek care in foreign countries, as their own privatized healthcare systems refuse to diagnose these conditions or honor cross-border diagnoses.

Take for example, the case of Marjorie*, a UK resident aged 21. Marjorie had to go to France for evaluation and diagnosis of her symptoms. When the doctor diagnosed her with CCI, she felt utterly triumphant, but the realization that she couldn’t get treatment for her condition, a much needed spinal fusion, in the UK. In order to be treated, Marjorie and her parents have been forced to turn to fundraising, so they can return to France for the needed operation. The price tag for her surgery is estimated to be $60-80K.

While in the US, Gina* aged 38, traveled from Kansas City, MO to a doctor in Florida for diagnosis and treatment of her Chiari Malformation and craniocervical instability, a process which took her over 5 years to complete because she had to crowd source donations to meet the cost of treatment, as well. Even after everything Gina went through to achieve treatment, she continues to live with the same debilitating symptoms as before; her surgery a complete failure.   

While these problems have differing sources, it’s the same for patients in both settings; the rarer the condition, the more expensive the doctors and treatments. Both situations leave treatment attainable only to those who can afford travel expenses and exorbitant charges for their healthcare needs.

Poor Surgical Outcomes Due to Inadequate Testing

A comprehensive investigation on why many patients with CCI, Chiari Malformation and other CJDs are being left with no where to turn.

Even when you do luck out enough to gain access to medical intervention, these surgeries are only successful for some. In the course of my research, I came to understand this was largely due to the outdated use of imaging techniques which provides a lack of clarity in both the severity and variety of issues faced in this population. It is my feeling that many patients are undergoing these surgeries without successful outcomes because surgeon are effectively going in blind, or with only a partial view and understanding of the full problem. Because of this, many patients are no better off post-operatively than they were before or experience only mild improvements.

Atul Goel, department head of neurosurgery at K.E.M. Hospital and Seth G.S. Medical College in Mumbai states

The treatment of basilar invagination [a form of craniocervical junction disorder in which a vertebra at the top of the spine moves up and back, toward the base of the skull (3)] must be based on the understanding of its pathogenesis. As complications related to an inappropriate treatment can be devastating in nature, exact anatomical and biomechanical evaluation and precise surgical treatment is mandatory in these patients.

(1)

How does Goel recommend this investigation take place for basilar invagination and other conditions within CJD? Through the extensive use of modern day MR imaging techniques, including those mentioned earlier, dynamic MRI, upright (functional) MRI, and MRIs performed in the flexion and extension positions. In addition to MRI, Goel recommends the use of CT (over that of x-ray) to get accurate measurements of the size and bony features and protrusions of the neck, foramen magnum and posterior fossa, which could further complicate treatment or need to be addressed through the use of additional surgical techniques.

His argument that the origin of CJD is necessary to treatment plans are best explained in his own words:

In our recent study, we identified patients in whom there was ‘vertical mobile and reducible’, wherein there was basilar invagination when the neck was flexed, and the alignment was normal when the head was in extended position. Although such mobility is only rarely identified, it does indicate the need for dynamic flexion-extension studies to preoperatively assess the craniovertebral instability. In Group B the alignment of the odontoid process with the anterior arch of the atlas and with the inferior aspect of the clivus remains normal and there is no instability in these patients.

Majority of patients (58%) with Group A basilar invagination had a history of minor to major head injury prior to the onset of the symptoms. The pyramidal symptoms formed a dominant component. Kinesthetic sensations were affected in 55% of patients. Spinothalamic dysfunction was less frequent (36%). Neck pain was a major presenting symptom in 77% of patients. Torticollis was present in 41% of patients. The analysis of radiological and clinical features suggests that the symptoms and signs were a result of brainstem compression by the odontoid process.

(1)

This view is quite a bit different from doctors in the US who often seem to believe Chiari and similar malformations of the foramen magnum are always congenital in nature. It could also explain why some surgeries are much more successful than others.

Traditional MRI may be the least helpful type in diagnosing CJD, while uprightand dynamic MRIs are the preferred methods of imaging among top experts.

In “Image Based Planning for Spine Surgery,” Elsig and Kaech note

“The planning of decompressive and reconstructive spine surgery is based on clinical findings and diagnostic imaging. The evaluation of segmental instability, but also of the risk of destabilization following a needed decompression of the spinal canal and/or neural foramina make complex spine surgery a challenge, bearing in mind the risk of failures in case of an inadequate operation. The insufficient correlation between imaging and clinical symptoms originating from the spine and its nerve roots has been frustrating for some decades.”

(2)

They list several of the same problems with relying on traditional horizontal MRI and note the need for the use of the same modern imaging techniques to ensure successful outcomes for more patients overall. Problems which are only present in load bearing positions can easily be hidden in a patient laying on their back (2). Positioning can have dramatic outcomes on diagnosis.

Another study by Elsig and Kaech notes some of the differences seen in patients in the horizontal position versus dynamic upright MRI throughout the spine, noting an increase in positive outcomes for surgeons who have this information prior to intervention:

A Postion-dependent appearance or increase of posterior disc protrusions, a varying degree of central canal and foraminal stenosis, and of mobile spinal instability was demonstrated in cases with preceding less remarkable or even negative recumbent MRI examinations.

A Type I Chiari Malformation, with positional increase of cerebellar tonsils downward herniation and brainstem compression was identified in a patient studied for a c5/6 degenerative disc disease. At this level an increased disc protrusion and segmental kyphosis was seen during upright imaging.

(4)

Other Issues Barring Positive Outcomes for CJD

Of course the failure to thrive post-operatively can’t always be blamed on outdated imaging or surgical techniques. In the case of Chiari I, researchers found “that abnormal changes in the DTI metrics in patients with Chiari I malformation indicate microstructural abnormalities in different brain regions that may be associated with neurocognitive abnormalities (5).” In other words, in some cases, Chiari 1 malformation may drive the development of microstructural abnormalities throughout the brain that could be affecting patient symptoms.

Dr. Pellay notes in another study that “the presence of syringomyelia implies a less favorable response to surgical intervention,” with only 9 of 20 syringomyelia patients seeing significant post operative improvements versus 13 out of 15 patients without syrinogomyelia seeing significant improvement (6).

According to research, age can also have an effect on outcomes, which also seemed to hold true in my interviews. In the case of Graeson, whose Chiari I malformation wasn’t addressed until age 2 and a half due to one surgeon deciding his problems weren’t pronounced enough despite his CSF flow being completely blocked. Once the surgery was completed after his mother, Angela sought a second opinion. For Graeson, the outcome was good despite the delay. Now a year older, Graeson’s speech and swallowing problems have all disappeared. Angela’s advice to other mothers and patient who suspect chiari is to keep pushing to find a doctor who is truly knowledgeable of the condition.

Unfortunately, not all young Chiari patients see the same results. In the case of Tom*, a young man with chiari in the US, developed a CSF leak after his decompression surgery and contracted meningitis during a lumbar puncture. He must now undergo spinal taps every 6 months to relieve ongoing intracranial hypertension. A year after surgery, Tom describes a surreal feeling, as if waking from a fuzzy dream. His headaches remain and he is under pain management to try to keep them under control.

Conclusions and Further Considerations

Craniocervical Instability Awareness Image displayed on "The Issues of Diagnosis and Treatement of Chiari and Craniocervical Instability, an investigation in the barriers of access for patients.

There are many reasons which affect the level of access to the diagnosis and treatment of this condition, from proper training of the doctors doing these procedures, to the processes and standards set forth by the healthcare organization, to standards and regulations which bar the use of non-native diagnosis and testing. In addition, not all of the imaging techniques mentioned are widely available, which can create further barriers.

All of these obstacles to proper treatment affect the lives of people with CJD, from diagnosis to treatment, to overall successful outcomes after treatment. I continue this discussion in the final portion of this series in which I present information about several people with CJD in the United States and UK. That post is now available here: 7 People with Chiari and CCI Share Their Stories

Resources and Related materials

  1. Goel, Atul, et al. “Basilar invagination, Chiari malformation, syringomyelia: A review.” Neurology India.
  2. Elsig, Jean Pierre and Denis Kaech. “Imaging Based Planning for Spine Surgery.” Taylor & Francis Online.
  3. “Basal Invagination.” The Spine Hospital at the Neurological Institute of New York, Columbia Spine.
  4.  Elsig, Jean Pierre and Denis Kaech. “Dynamic Imaging of the Spine with an Open Upright MRI: Present Results and Future Perspectives of FMRI.”
  5. Kumar, Manoj, et al. “Correlation of Diffusion Tensor Imaging Metrics with Neurocognitive Function in Chiari I Malformation.” Science Direct.
  6. Pellay, Prem K, et al. “Symptomatic Chiari Malformation in Adults: A New Classification Based on Magnetic Resonance Imaging with Clinical and Prognostic Significance.” Neurosurgery; Congress of Neurological Surgeons.
  7. Mossman, SS, et al. “Convergence Nystigmus Associated with Arnold-Chiari Malformation.” JAMA Neurology.
  8. Furtado, Sunhil. “Correlation of Functional Outcome and Natural History with Clinicoradiological Factors in Surgically Managed Pediatric Chiari I Malformation.Neurosurgery; Congress of Neurological Surgeons.
  9. All interviews were conducted through internet correspondence from September 5-11, 2019.

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An exploration of the barriers to the diagnosis and treatment of craniocervical junction disorders such as chiari malformation  and craniocervical instability (CCI) for patients worldwide in both public and private healthcare systems in the US, Canada and the UK. Includes a review of current literature on treatment & dx, plus patient interviews in this awareness month investigation.
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What is Ehlers-Danlos Syndrome (EDS)

An Albino Zebra representing Ehlers-Danlos Syndrome

Please note this post contains affiliate links. Thank you.


It’s Ehlers-Danlos Syndrome Awareness Month and time for an updated post which describes the symptoms and attributes of EDS. Ehlers-Danlos Syndrome is a group of genetic connective tissue disorders that affects the body’s ability to produce strong, healthy collagen. As a result, people with EDS usually have hypermobile joints and some types include hyper-extensible skin, but these are only a couple of the most easily recognized symptoms of Ehlers-Danlos Syndrome. The reality is that EDS has the ability to affect any and all parts of the body in a wide variety of ways that often seem strange and enigmatic to those ignorant of the condition.

EDS’s 13 Subtypes and Their Symptoms

 In 2017, the Ehlers-Danlos Society worked with an international panel of experts to update EDS classification and better define the criteria for diagnosis. As of the 2017 diagnostic criteria changes, there are now 13 distinct subtypes of Ehlers-Danlos Syndrome:

  1. Classical EDS (cEDS)
  2. Classical-like EDS (clEDS)
  3. Cardiac-valvular EDS (cvEDS)
  4. Vascular EDS (vEDS)
  5. Hypermobile EDS
  6. Arthrochalasia EDS (aEDS)
  7. Dermatosparaxis EDS (dEDS)
  8. Kyphoscoliotic EDS (kEDS)
  9. Brittle Cornea Syndrome (BCS)
  10. Spondylodysplastic EDS (spEDS)
  11. Musculocontractural EDS (mcEDS)
  12. Myopathic EDS (mEDS)
  13. Periodontal EDS (pEDS)

Update: Recently, a 14th type was discovered, however it has yet to be classified. On last report, only 4 people had been identified with what may be an extremely rare autosomal recessive type involving the AEBP1 gene.

The most common forms of EDS include Classical, Vascular and Hypermobile EDS. Hypermobile EDS is by far the most commonly diagnosed and is the only form of EDS for which the genetic marker has not yet been discovered. While each of these conditions have features that are specific to that type alone, there are some things which are fairly universal about Ehlers-Danlos Syndrome, such as our hypermobile joints. Hypermobile joints are loose and to dislocate or subluxate (a quick dislocation which pops back in on its own) easily. This has a tendency to cause recurrent soft tissue damage, the formation of osteoarthritis and other joint issues. Many people with EDS need multiple joint rehabilitation, replacements and surgeries throughout their lifetimes.

Because spines are a string of small bones and joints separated by thick discs comprised of collagen, zebras are also prone toward scoliosis, degenerative disc disease at young ages, spinal stenosis, ankylosing spondilitis, craniocervical instability and chiari malformations, among many other spinal conditions. I had my first herniated disc at 19 and was refused imaging for over 10 years because the doctors insisted I was “too young to have that problem.”

Our joints are only a small part of the picture when it comes to EDS. Because the body is comprised of more than 80% collagen, EDS can strike anywhere in the body. There is collagen in our blood, our bones, our hair, skin, muscles, organs, and other connective tissues. It is often described as the glue which holds our bodies together, but it’s really so much more. Here’s a list of the many symptoms and comorbid conditions known to occur as part of Ehlers-Danlos Syndrome:  fb_img_1470755630970.jpgfb_img_1470755778226.jpgfb_img_1470755915319.jpgfb_img_1470755925911.jpg

As you can see from this vast list of common symptoms and complications, it is easy for an EDS zebra to be diagnosed with dozens of conditions, disorders and syndromes throughout their lifetime. Currently, I have nearly twenty diagnoses and I am still working on finding doctors capable of diagnosing and treating other existing problems.

The Issues of Diagnosis of Ehlers-Danlos Syndrome

As I stated earlier, the most common forms include Classical, Vascular and Hypermobile Ehlers-Danlos Syndrome. hEDS is by far the most diagnosed, but this may be due in part to the fact that it is often diagnosed clinically (without genetic testing) and is the most well-known form. Since the genetic marker for hEDS has not yet been discovered (unlike other forms) and genetic testing can be expensive and difficult to obtain in both public and private healthcare systems, these issues may also play a factor in the prevalence of this diagnosis compared to other subtypes. When it comes to the diagnosis of any form of EDS, it is understood among patients and EDS specialitss alike that EDS is massively underdiagnosed and/or misdiagnosed.

While I became symptomatic as a teen, I was not diagnosed until the age of 44, despite having Hypermobility and many other clear cut signs. I wasn’t shy about going to specialists and seeking answers, either. Time to diagnosis often ranges from 7-14 years after the onset of symptoms. This is the reason zebras are used as a symbol for EDS and other rare diseases; to encourage doctors to sometimes think zebras instead of horses when “hearing the hoof beats” of connective tissue and autoimmune disease. In medical school, doctors are encouraged to do the opposite and assume every patient has something common and easier to address.

Lack of knowledge on the part of the physician is also highly problematic. While I live in a fairly large American metropolitan city and saw dozens of doctors, none of them could tell me what I was suffering from. I actually had to discover the diagnosis for myself, judge myself against the criterion and spend over a year trying to find a doctor with enough experience to diagnose me. Cincinnati has a geneticist who can diagnose EDS, but they don’t take adults and I know for a fact his waiting list is a year long. Ultimately, I was diagnosed by a rheumatologist who did a fantastic evaluation, but refused to take me on as a patient due to the complexity of the condition. I am by no means alone in this.

In Canada, I hear frequent stories of possible EDSers being turned away from the only places that can diagnose them because they’re simply overwhelmed with patients and choosing not to help those whose care may not seem as critical to their survival. What that means is that millions of us go undiagnosed, untreated and suffer needlessly for years on end without assistance or hope of intervention.

While EDS is more prevalent in women than men, it is a genetic disorder that anyone can get, regardless of sex, ethnicity or race. Just as fickle as its lack of discrimination is how it affects the individual. How I experience EDS is even different than how it affected my own mother. While some of this is dependent on the development of comorbidities, even when those match, ability levels and complications can be vastly different. If you have a loved one with EDS it’s very important to understand this and not expect them to be like Mary who happens to have the same condition.  Understanding this makes organizations which deny patients aid based on subtype rather than individual need seem pretty ridiculous and downright cruel.

How Diagnosis is Made

For those who do find a doctor qualified to diagnose their condition, there are clear-cut criteria one must meet for diagnosis. These parameter changed in 2017 along with the condition types. Of all 13 subtypes, only one cannot be confirmed via genetic testing. While genetic testing is the preferred method of diagnosis, there simply aren’t enough geneticists to handle current needs in any country, so it is sometimes left to a strictly clinical diagnosis using the international criteria and the Beighton Score.

“For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered.” (The Ehlers-Danlos Society)

The international criterion differ based on subtype, but there are many similarities. To get an idea of what’s required, the criteria for hEDS is as follows:

The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no molecular, genetic cause yet identified, so there is no test available for almost all with hEDS.

There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS.

A diagnosis of hEDS should be assigned only in those who meet all of the criteria, which should help research efforts to discover the underlying genetic cause(s) which, in turn, may help clinical management. As this is a clinical diagnosis, it’s important to be relatively confident that the diagnosis is not instead one of the many other disorders of connective tissue. Hypermobile EDS is inherited in the autosomal dominant pattern.

The clinical diagnosis of hEDS needs the simultaneous presence of criteria 1 and 2 and 3. This is a complex set of criteria, and there is much more detail than presented in this overview; please see the page for hypermobile EDS.

  1. Generalized joint hypermobility (GJH); and
  2. Two or more of the following features must be present (A & B, A & C, B & C, or A & B & C):

            Feature A—systemic manifestations of a more generalized connective tissue disorder (a total of five out of twelve must be present)

            Feature B—positive family history, with one or more first degree relatives independently meeting the current diagnostic criteria for hEDS

            Feature C—musculoskeletal complications (must have at least one of three); and

  1. All these prerequisites must be met: absence of unusual skin fragility, exclusion of other heritable and acquired connective tissue disorders including autoimmune rheumatologic conditions, and exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity.

There is a range of conditions which can accompany hEDS, although there is not enough data for them to become diagnostic criteria. While they’re associated with hEDS, they’re not proven to be the result of hEDS and they’re not specific enough to be criteria for diagnosis. Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These conditions may be more debilitating the joint symptoms; they often impair daily life, and they should be considered and treated (The Ehlers-Danlos Society).

For the full criterion for all 13 subtypes, visit the Ehlers-Danlos Society

To better understand these criterion, here are the criteria broken down by section:

hEDS Criterion 1 for DiagnosishEDS criterion 2 for diagnosishEDS criterion 3 for diagnosis

The graphic below explains which joints are checked for Hypermobility during examination. Note that the Beighton is based ONLY on the joints shown. In order to meet the criteria, children need 6 or greater, adults under 50 need 5 or greater, and anyone over 50 must have 4 or more, as we lose our Hypermobility to arthritis and other conditions along the way. 

fb_img_1471135396519.jpg

It’s important to understand that while we’re flexible, hyperextending our joints can have disastrous results. Please do not try these outside of being examined!

If you suspect you may have EDS, it’s important to get diagnosed, even if you haven’t started experiencing symptoms until later in life. Hormonal changes, such as puberty and menopause, often trigger symptoms, as does illness, injury or physical or emotional trauma, creating wild fluctuations in the typical age of onset. EDS zebras need to protect their joints by modifying exercise and other activities, eat whole organic foods and care for their bodies in special ways.

To find out more about how to care for your Ehlers-Danlos body, a good place to start is our Health & Wellness Section!

References and Additional Reading Materials:


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Am I Autistic? Women, Autism and the Issues of Diagnosis


Meme which shows an infinity symbol in rainbow colors. The text says "Acceptance. Love. Neurodiversity. It's as simple as that. Join the movement."

Near the end of 2018, I began to suspect I might be autistic. The suspected link between autism and Ehlers-Danlos Syndrome got me thinking about how certain symptoms, characteristics and personality traits of mine line up with an autism diagnosis. I was suspicious enough to take an online test which led to a bit of research and an evaluation with a psychiatrist in January.

For months I’ve been trying to unlock my thoughts and feelings about my autism evaluation so I could share it with my readers and the people in my life. Now that it’s Autism Awareness Month, I’m forcing myself to unclench these jaws and speak about it (metaphorically, as it were). I’ve had difficulty sorting my thoughts and feelings because neither the evaluation nor its conclusion were anything like what I hoped and everything like what I anticipated and yet, I am still somehow at a loss as to how to proceed.

After testing fairly high on the online test I took, the psychiatrist told me I’m not on the  spectrum at all, but have similar traits that are more likely caused by attachment disorder. He added that I do hold a lot of similarities: However, it was his opinion after his 15 minute conversation with me that I don’t have it.

Why would he come to this conclusion and possibly be wrong? First, He tested me as if I was a male child, failing to recognize there is a distinct difference between the sexes in autism. While my score on the questionnaire was sufficient for diagnosis, because the doctor didn’t know what to look for in a female with autism. I know this to be true because when I questioned it after the fact, he told me no such differences exist. He instead diagnosed me with an attachment disorder, a diagnosis I already had. According to Kim Wutkiewicz writing for AANE:

Women with Asperger profiles are less likely to be diagnosed and more likely to be misdiagnosed for a number of reasons. Additionally, many professionals have been trained to recognize typical Asperger/autism spectrum expression more easily in males than in females. While many professionals and advocates are working hard to change this reality, there is still a long way to go in terms of universal understanding and recognition of the unique gifts and challenges of Asperger women. While the core characteristics of an Asperger profile does not differ between genders, girls and women might demonstrate different outward reactions to the profile. While every girl and women [sic] with an Asperger profile is unique, many share certain experiences.

pale woman with turquiose hair and peach and turquiose swim suit lays by a pool wearing sunglasses.

While I hate to argue with yet another diagnosis (or lack thereof), it’s hard to ignore all the evidence screaming to me that I am autistic and hear once again, from yet another doctor, “Sorry. You’re wrong.”

If my only symptom were sensory overload, I’d concede the root cause of this problem is several fold and definitely doesn’t mean I have autism. After all, the fibromyalgia, migraines, or POTS alone would be enough to explain it, if it had been sudden onset with these illnesses, but it was not. I have struggled with sensory overload my entire life, but had no language to articulate it had anyone listened to my complaints. My father thought my extreme sensitivity was hilarious and would tickle me until I turned blue. Maybe he thought I was laughing. My sister thought my sensitivity was so funny, she used to say I was ticklish through airwaves. My mother, who experienced the same things and had much the same disposition would become livid about this when she rarely ever defended me when it came to anything else.

If crippling shyness were my only issue, I’d be all too happy to say that it’s all about the lack of nurturing and care in my early life. Torture tickling was the least of my early childhood nightmares. But this list, compiled from several sources on women with autism, could easily be speaking about me specifically:

Autism Expression in Women and Girls

A pale woman with long blond hair and glasses in a white sweater types on a keyboard before a large computer monitor.
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  1. As a young girl, she may know that she is different, noticing that her interests veer away from those of her peers. She may prefer having only one or two friends, or to play in solitude, having an appreciation of and focus on specific interests.
  2. She might demonstrate an aversion to what is popular, what is feminine, or what is fashionable. Sensitive to textures, she might prefer to wear comfortable, practical clothing.
  3. She might appear naive or immature, as she is out of sync with the trends or the social norms.
  4. She might work very hard to “camouflage” her social confusion and/or anxiety through strategic imitation, by escaping into nature or fantasy, or by staying on the periphery of social activity.
  5. She might show different sides of her personality in different settings. “A girl with Asperger’s syndrome may suffer social confusion in silence and isolation in the classroom or playground but she may be a different character at home, the ‘mask’ is removed.” (Tony Attwood). At home, she might be more prone to releasing her bottled up emotions through meltdowns.
  6. She might be exhausted from the work of deciphering social rules or of imitating those around her to hide her differences.
  7. She might be anxious in settings where she is asked to perform in social situations. This could lead to mutism, escapism, or a focus on routines and rituals.
  8. Frequently, women with Asperger profiles, like neurodiverse men, have intense special interests; however, these special interests can follow different sets of themes. Historically, women have been less likely than men to be interested in transportation, computers, or astronomy, and more likely to be passionate about literature, the arts, animals, environmental activism, and other topics with relational themes. That said, when it comes to special interests, anything goes for both genders.
  9. Females with ASD’s often develop “coping mechanisms” that can cover up the intrinsic difficulties they experience. They may mimic their peers, watch from the sidelines, use their intellect to figure out the best ways to remain undetected, and they will study, practice, and learn appropriate approaches to social situations.
  10. Difficulty with social communication increases with age for autistic females.
  11. She may rely heavily on other children to guide and speak for her, suffering more social issues as she gets older and this behavior becomes less tolerated by peers.
  12. She may have issues with anxiety, depression or moodiness and seem unpredictable.

Why Women Are Underdiagnosed

Misdiagnosis is only a small part of the problem. Many girls on the spectrum are missed entirely and there are a number of reasons why this may be. It was once thought that autism and aspergers were conditions that only affected men, an idea born thanks to Hans Asperger himself, according to Grant Satchell. For this reason, it’s only just come to light in the last decade that the true gender statistics could be as high as 1 girl to every 3 boys who have autism.

While Hans Asperger eventually came to his senses, much of the damage was already done. How autism spectrum disorders presents in women would not be examined for many decades to come, leaving many girls and women who mask well (typically better than men do) to fend for themselves.

Even though we now have this information, these changes can be slow to disseminate or even be included in the DSM and autistic girls and women are still being missed in doctor and psychiatry offices around the world. Lisa Jo Rudy notes:

Girls who have overt symptoms such as obvious self-stimulating behaviors (stims), extreme difficulties with speech and language, severe difficulties with social communication, or significant cognitive challenges, are usually referred for evaluation and diagnosed at a young age. But girls whose symptoms are subtle, or whose intelligence level allows them to mask symptoms, may only be diagnosed as pre-teens or teens.

Being in this latter category, I worked very hard to cover my differences my entire life and only rarely succeeded. I always had a best friend who took care of all of my social needs, spoke for me and helped me obtain what I was too afraid to do for myself. Thinking back now to how these people functioned as the touchstone of my universe and often became one of my intense interests, I feel shocked and embarrassed by everything I put them through. 

acceptance goes beyond awareness

I spent countless hours playing pretend and trying to figure out how better to fit in. I did have some terrible stims, for which I was castigated frequently, but it was certainly never treated as anything that could indicate a problem. My nail biting was simply a “nasty habit” that I had to stop… “and why must your leg always bounce like that, a mile a minute? Just relax!” I also practiced self-harm as a teenager, a fact that I’ve revealed to no one but my husband until now.

Despite how well I seem to hide, I do have my cognitive issues and deficits, things that I’ve been dealing with my whole life, as well as things that have become a problem since the surge in my chronic illness the last 10-15 years. It’s difficult to tell if I had learning delays because I was moved around a lot and every time I got into a new school, there were always deficits to contend with. I did poorly in most subjects except English. Yet, despite my love of language, I’m a slow reader. It takes extra time for things to sink in for me.

All of my thought processes are rather slow. This is especially true if I’m anxious and so when I’m talking to someone I don’t know well or there is a group of people, sometimes thought seems impossible and I have a much harder time forming coherent sentences and recalling information. This began long before my PTSD symptoms ever started. I remember vividly how a boyfriend contended that I appeared “unreliable” because it took me so long to respond to questions. These things catch in my anxious brain and become part of the loop of negative self talk I become stuck in when I begin a PTSD cycle.

Speaking of “unreliable,” part of why it takes me so long to respond is because I know I have to contemplate the meaning behind words a bit, because yes, sometimes double-speak like “You seem unreliable” instead of “I think you’re lying” often fly right by me. I don’t always get what’s being inferred and much prefer direct communication styles, something I’m told I am a lot; direct. And while I love metaphor, simile and language play, I sometime take things too literally, or oddly, very metaphorically, when it was never intended that way. And when someone laughs in my face for it? IT STINGS. I am a crafter of words. I fear I’ll be viewed as an imposter when my language deficits are uncovered.

This is how I came to writing. I love that I have the opportunity to tweak and edit and make things perfect so that the world can understand and see me clearly; without the physical awkwardness, the shy tics or the occasional inability to meet another human gaze. It was through my writing that I ever felt fully understood for the first time and I wouldn’t doubt that’s why I worked so hard to turn it into a career; so I could capture that feeling often and share of myself the things I’ve always wanted to as much as to escape the real world.

Am I Autistic?

Until writing this, it’s been difficult to articulate my thoughts on this experience, so I’ve found myself instead in a cone of silence about the whole thing with strangers and friends alike. Am I autistic? I certainly see myself in so much of the work I’ve been reading by autistic writers, their own experiences mirroring my own in so many ways, it feels like coming home, like knowing myself fully for the first time and that I am in no way alone in the way I experience the world and am treated as a result. I feel like I’ve found the pieces to adequately explain why other people have also insisted that I am “quite unique” to downright “bizarre.”

The psychiatrist who half-heartedly attempted to diagnose me does have a valid point about the similarities between attachment disorder and Autism, though. What he seems to fail to recognize, in addition to the fact that he tested me as if I were a male child, is that the DSM-V states attachment disorder as being strongly linked to or a possible cause for autism. In a way, he’s making my case for me.

The problem with diagnoses based on symptoms, which is what the DSM is almost entirely comprised of given that there are few mental health conditions that can be seen on a blood test or scan, is that it’s all very much left open to interpretation and the diagnosticians own point of view. My therapist even pointed out when I brought my concerns to her that many practitioners have their “rote diagnoses,” and one therapist she knows diagnoses every patient he sees with Tourette’s! It doesn’t surprise me that a doctor completely unfamiliar with autism in women couldn’t see it in me, but he was quite happy to give me one of his favorite diagnoses instead.

In the end, I believe he got the diagnosis wrong, which I feared might happen, solely because I was a 46 year old female. The question is, should I continue to pursue diagnosis or let it go and if I don’t do that, do I have a right to refer to myself as autistic? In a way, I really want to put down the fight, feeling that I’ve satisfied my own curiosity and can act on this information on my own to try to help improve the things I am struggling with. I don’t need a certificate, I need the information so I take the right approach to resolving some of my issues.

A black meme with bright yellow border and writing that says "Autism is not a mental disorder: Autism is a neuro-developmental disorder. Do not judge, educate. Dealing with Autism Spectrum Disorder."

Of course the problem with this is that if I don’t have a diagnosis, then it’s not on my chart and there are many health concerns specific to an autism diagnosis, especially as one ages. The other concern is that while I’m probably stuck working from home for the rest of my life, I may still benefit from specific accommodations due to my autism and it certainly would make things easier to have a documented diagnosis.

Maybe I don’t need a diagnosis to prove anything. In some respects proof of any mental health diagnosis can have its drawbacks—the fact that autism is even in the mental health realm seems inaccurate and highly problematic to me. After 15 years as the friend and stepmother of an autistic male and much study, I firmly believe it is a health condition with common comorbid mental health conditions and not the other way around. That aside, I certainly could benefit from a diagnosis for treatment. I personally don’t think it’s ever too late to get a diagnosis of any type, especially one that’s suspected to be a genetic disorder or mutation, such as autism. I put just a few ideas why in the graphic to the left.

Overlay graphic shows an image of a pale woman with blue hair and sundglasses. The text reads: "Autism: Why Get Diagnosed? To gain access to resources and treatment, for self-insight, to find & establish a place of belonging & community, to learn about & address potential health concerns (autistic burnout, MTHFR mutations, etc.), to arrange any necessary accomodations for work or school, for peace of mind.

These questions are important to me and I’d love your input on it, most especially if you’re on the spectrum yourself. I certainly don’t have all the answers. Some people I’ve talked to seem to take the attitude that I’m wasting my time; that it’s something you shouldn’t worry with beyond childhood, but I think that simply points to the ignorance surrounding the diagnosis. It’s not a learning disability. It’s not something you grow out of, though autistics certainly do grow and change. Whatever the mechanism driving it, Autistic brains work a bit differently. The behaviors some see as strange are how autistics accommodate those differences. That’s why autism is considered neurodivergence; because it covers a whole range of disorders that cause diversity in the way autistics receive, process and respond to the world.

Despite my own place on the Autism spectrum still being up for question, I’ve decided ASD is something I would very much like to cover at the Zebra Pit, at least current news, studies, etc. It has a high comorbidity rate with EDS, it is a rare condition that’s largely thought to be genetic in nature, it’s neurological and as an autism mom, it’s something near and dear to me.

Resources:

  1. Asperger and Autism Spectrum: Women and Girls
  2. Symptoms of Autism in Girls
  3. Autism in Women Significantly Underdiagnosed
  4. What is Autism?
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My Ehlers-Danlos Story

An Albino Zebra representing Ehlers-Danlos Syndrome

img_20160808_210746.jpg

Now that I finally have a diagnosis of Ehlers-Danlos Syndrome (EDS) and have a complete picture of my health, what I believe went wrong to make me so sick and the ways I’ve worked to combat many of those problems, I felt it might be constructive for myself and others if I took the time to examine my personal history. EDS is not something that “just happens suddenly” for most of us. There are many signs and clues along the way and if you take heed and learn early how to care for an Ehlers-Danlos body, the odds of living a longer, more healthful life with full mobility are much more likely. It is said that EDS is not a degenerative disorder, however it is a disorder that can bring about loss of function due to mechanical failure, and those failures can never be fully overcome. That’s why early diagnosis and active protection in the form of prevention are vital for zebras.

Unfortunately, I didn’t have the benefit of knowing early. Though I felt from a very early age that there was something wrong, my family had a long standard of denying our pain, not going to doctors unless something seemed serious and life-threatening and encouraging each other to just suck it up, because “that’s life; just deal with it.”

When I spent my childhood catching every flu and virus rampant in our public school system and developed bronchitis and sinusitis four to six times a year, no one questioned it. When I constantly sprained my ankles and complained of leg pain, I was told to suck it up. Any link between frequent bouts of tendonitis and our strange hypermobility was never questioned. When my gymnastics coach got a load of my flexibility, she was thrilled to have me join the team, only to tell my stepmother at the end of the year that my poor proprioception and motor skills made me terrible gymnast material and I wouldn’t be invited back. When I complained that standing in one spot or working on my feet for longer than an hour brought me severe pain, I was being a drama queen, but these were all early signs that I had the same incurable genetic disorder that many of my family members had, only it wouldn’t come to affect them in any noticeable way until they were much older, or at least if it had, they didn’t feel it was enough to bother with or were told the same things I had been told; that what they were feeling was nothing unusual and nobody cared.

These were just a few of the signs of EDS in my early life. Other things are more obscure, but just as important. For instance, I was always dropping things, running into doorways and tables and tripping on perfectly flat ground. I was a real klutz. This is due to joint laxity and poor proprioception. When your joints are loose, your brain can’t properly place or guide your body.

I also suffered from a wide variety of allergies from an early age and they have only continued to grow throughout my adulthood. I started out with allergies to certain soaps and cleaning products and my allergies grew to include most common outdoor allergies, all synthetic dyes and perfumes, some nuts and fruits. Now I have a wide range of allergies and intolerances that range in severity from anaphalactic reactions to headaches and nausea and I  strongly suspect I have the common comorbid condition of a mast cell activation disorder and am seeking the help of a specialist in that area. This is likely what caused all of my respiratory infections, combining inflammation and congestion with a weakened immune system.

I also suffered from a lot of gastric problems. I often overate because my stomach felt unsatisfied after eating. I don’t know if it’s because of the bendy nature of our soft tissue, a lack of proper signaling in my nervous system or because of acid reflux issues, but my stomach often insisted I was starving and I had a great deal of difficulty denying it. My hormones also fluctuate quite wildly, which is also common in EDS and could have been a contributing factor. Whatever the cause, weight gain and obesity are fairly common in EDS and is a family-wide issue for mine.

My first taste of serious joint injury came after my first year as a certified nurse’s aide at nineteen. According to the doctor who treated me, I damaged every muscle in my lower back and it was over two weeks before I could stand without excruciating pain. I have a feeling I herniated both my L4-L5 and L5-S1 that day, but it would take me another decade to convince a doctor to do an MRI or CT to check, despite putting my back out at least yearly thereafter.

In my teens and twenties, I often missed work or school because I was plagued by chronic infections and periods that were extremely heavy and brought intense cramping that I simply couldn’t bear on top of 8 hours of excruciating foot and leg pain that would leave me nauseous, shaking and sweating. In desperation or emotional outbursts fueled by pain, I’d quit jobs, sometimes walking out without notice, convinced I just couldn’t survive another day. My mother told me I was incapable of controlling my emotions and too stupid to recognize the value of a paycheck. I felt worthless and stupid and became stuck in a cycle of failure because manual labor or customer service jobs that would only bring more pain and end in yet more failure were all I could get hired to do.

I began experiencing odd dental problems. Because the women on my mother’s side of the family had this uncanny history of losing their teeth after giving birth to their first child, I was downright fanatical about my dental care. Still, I was amassing cavities at an insane rate and had developed gum disease at a very early age. My teeth would even crack and splinter. I broke a tooth on a piece of candy and had a tooth disintegrate around a filling. Worse, my pallet was so narrow that when my wisdom teeth started to come in, they threatened to oust my molars, because they wanted to grow in right on top of them. At the dentist, it would take three times as much Novocain to numb me and I would have to wait twice as long for it to take effect. Then it would take all day for it to wear off. My teeth have been so sensitive for decades now that despite using the best sensitive toothpastes and soft electric brushes on the market, simply breathing through my mouth is painful. Eating is at times utterly intolerable and sometimes they ache for seemingly no reason at all. I think all the time about removing those I have left and just being done with it, though I have only lost 3 to date.

By the time I made it through my first degree—an attempt to escape manual labor and a hope to do something more personally and socially meaningful—my fatigue and pain were to the level that even working a desk job was a great challenge. The physical portions of my administrative job was becoming more and more difficult for me to perform and I worried constantly that people thought me lazy or uninterested in doing my best, though that’s always been contrary to my very nature. In college, I tore my Achilles tendon making the usual hike up two stories of stairs in a building that was constructed long before there were elevators or laws about them and the pain of that injury never subsided completely, nor any other, just as it had been with every torn tendon or ligament. In the course of trying to stay healthy and active, I suffered tendonitis in so many parts of my body, I’m no longer sure I have any tendons I haven’t injured.

In college, I began to push a bit about whether there might be something more wrong with me. I remember having a couple of doctors run panels on me for connective tissues disorders, but none of the usual suspects appeared. Still, I had felt something was wrong for years and I was beginning to suspect I was right. In 2001, at the age of 29, I developed focal segmental glomerulosclerosis, a rare kidney disease that was even more rare for my particular demographic. It moved rapidly, killing 10% of my kidney function in less than 6 months. I was certain it was going to end in kidney failure, but miraculously, it reversed in less than a year and I made a complete recovery. I now believe that it was caused by the pesticide laden well water I was drinking in our farmhouse and am not surprised at all that this time brought about my first fight with fatigue, achy joints and irritable bowel syndrome, as well.

Still, it wasn’t until almost my mid-thirties that I began to insist to my doctors that there was something seriously wrong. I’d begun working out regularly and eating healthy. I lost sixty pounds and lived a healthier lifestyle than ever, but still the pain and fatigue could not be subdued and my back was becoming a near daily problem, shooting pain from my lower spine and spilling down my right leg. I related my ever growing fatigue with the pain I lived with daily that was sometimes completely crippling and at others a dull ache. A CT revealed that my two lowest discs were herniated, along with one in the thoracic region and two in my cervical spine. Eventually the pain turned from occasional to relentless and severe, forcing me to leave my job, a third of the duties beyond my ability to handle. When I finally gave in and accepted a surgical option to repair the discs, I thought I’d be home-free from that terrible tiredness, able to work and function normally again.

The first surgeon I saw wanted to do a spinal fusion, but I wasn’t comfortable with having hardware put in, especially since I already had so much deterioration in my back, so I went to another surgeon. The second surgeon agreed. He felt a discectomy/lamenectomy would be appropriate. In September of 2009, I came out of back surgery with raging nausea and a right leg that buzzed like an angry beehive of numbness, but the unending severe pain I’d become accustomed to had vanished and has remained a rare visitor ever since. Only on special occasions does my back pain return, but that angry beehive fell to a dull buzz and with fascia therapy, I’ve managed to work the numbness down to a couple of spots on my right foot. Hopefully with time, I won’t have any left.

A few weeks out of surgery and I was bound for physical therapy. The only problem; I was still in pain in many other parts of my body and the fatigue I had associated with living in that level of constant pain never subsided. If I look back at my history it makes perfect sense, but at the time, I was flabbergasted. I couldn’t walk a mile without being wiped out for the remainder of the day and so complained to my General Practitioner (GP) at the time, a newbie in the residency program at the local hospital.

“So, I’m through the surgery and my back feels worlds better, but I don’t feel better. I’ve got no energy to do anything and no matter how hard I try to build up stamina, I only seem to have less energy instead of more. I ache all the time, all over my body, my joints all hurt something awful and I can’t seem to get back to where I was before the surgery.” This was all the description she needed to perform the tender point test for Fibromyalgia. She would press in a spot and get a rise out of me. “Ow!”

After six or so of these ow’s, she stopped, explaining to me that she was only applying the minutest of pressures to these tender points. Did it really hurt so bad, she inquired? It did. After apologizing, she went on to test the remaining tender points, excitement becoming a mixture with the keen intelligence that showed on her face. By the time she finished, she had confirmed pain in 14 of the 18 spots she knew to test.

It felt like déjà vu, this test. Barely a decade earlier I’d seen it given to my ex partner. Even then I wondered if I too should be tested, but fear of stigma forced my silence.

“Do you know what this means?”

“I have a feeling you’re going to tell me I have Fibromyalgia.”

“That’s right; undeniably so. This is the cause of your pain, your fatigue, your sleeplessness. I’m going to write you a prescription for a drug that usually helps quite a lot with the sleeplessness, which should also decrease your pain and of course the fatigue. It was once used as an anti-depressant, but it’s been found to be much more helpful for FM.” She handed me the prescription that read; Amitriptyline, 50mg. “Take one of these every night before bed and let me know how it does.” She wrote me an additional script for pain medication, making me sign a contract that stated I wouldn’t accept pain medication from any other doctor.

I’ve never been so thrilled and petrified at the same time. Finally, a doctor who validated what I’d been feeling for years, an actual diagnosis, which meant something could be done about it. Boy was I naïve. The wonderful resident who diagnosed me graduated and moved on to a shared practice, one that didn’t accept my insurance. Her former Resident Supervisor was not of the same opinion as to the nature or truth of an FM diagnosis and when I went in to ask for additional treatment, I faced my first instance of prejudice about my illness. I wasn’t sick, she told me, I just needed to exercise and lose weight. For two years this woman tormented me every time I came in, regardless of what resident I was assigned to, with lectures about my diet and my physical fitness. Of course through all this she could have at least attempted to be helpful in that regard and given me some meaningful information or written a script for physical therapy, or anything of the kind. Instead, she’d deny me any and all treatments and refused to give me any more pain reliever, intimating that I was a drug addict seeking a fix.

You might think that I should have stormed out of that office never to return right off the bat and maybe I should have. But to think so is to deny a serious issue with the American medical system and to ignore the history of the medical community’s denial of Fibromyalgia as an actual disease instead of a catch all for “we don’t know what’s wrong with you”. This is something I knew all along and it bred in me a certain level of doubt, despite what I was experiencing with my own senses. So I put up with it, swearing I’d find another doctor soon, but dreading that a new doctor would think the same way. It wasn’t until what little relief I’d been getting from the Amitriptyline began to fail me that I was finally forced to make a move.

When I finally did, I was sent to a rheumatologist who gave me an additional diagnosis of Chronic Fatigue Syndrome (ME/CFS), but I wasn’t satisfied with this diagnosis, as it’s a sudden onset disease and I knew whatever it was that I had I’d probably had my whole life and that what was going had been compounding over the span of my life. Still, I learned everything I could about the disease in an attempt to take the best care of myself possible. The rheumatologist tried many drugs with me, but all of them failed because they were either too much for me to bear or simply had too many side effects.

During this time, I also started experiencing dizzy spells when I was standing or would try to reach up in a cupboard for something on a high shelf. I passed out in the middle of the post office, simply crumpling to the ground like I was one of those inflatable flailing arm tube men outside a Jiffy Lube and someone cut the air off. It took five years to get diagnosed with POTS.

I also began to experience severely dry skin that only got worse with exfoliation and had to change from my usual bath products to special oil based shower gels to avoid growing great dry patches that I suspect are psoriasis, but have never been biopsied. I also have to condition my skin with coconut oil and curel daily to avoid outbreaks. As my mother suffered from psoriasis, too she taught me the dos and don’ts and so far, I’ve managed to get along.

My late thirties also brought with them scary and excruciating bowel infections such as diverticulitis and c-diff (clostridium difficile), all too frequent staph fueled boils, UTI’s and kidney infections; All this plus the amazing ability to contract any flu, virus or infection of every person who ever stood within a 10 foot radius of me or my husband who seems ever the viral incubator though he’s rarely ever sick. I was constantly on antibiotics and I began experiencing frequent subluxations and dislocations, even in my ribs. My migraines went from occasional to almost daily to where they never stopped, leaving me so sensitive to light and sound that I couldn’t leave my bedroom and would spend days vomiting. Between that and my untreated POTS, life was completely unbearable and I was bedridden for all but a few hours a day most of the time.

In 2015, constant abdominal pain, irregular periods and continued severe cramping finally drove me to seek a hysterectomy. At times, I would bleed for a month. It turned out I had endometriosis, but because I wanted to have children, no gynecologist ever felt it necessary to tell me this. I still scratch my head over this. Patients need all the information to make a decision and no decision was ever presented to me, only the question of whether or not I wanted kids. I was always honest that yes I wanted children, but it didn’t seem possible, as I had tried and been unable to conceive. Why, in all the OB/GYNs I saw over tge years did none tell me point blank that I likely had endo? I have no faith left in the medical industry. Along with endometrial tissue, there was a ton of scar tissue. From what, they couldn’t say.

Then sometime in 2016, I came across some memes during one of my brief excursions on Facebook talking about a connective tissue disease that I’d never heard of called EDS. I decided to give it a look, since I’d been through testing for literally every disease my rheumatologists, neurologists and GP’s could think to test me for. After reading extensively about EDS, I felt like I’d finally found the disease which explained not just some of what had been going on with my body for some of my life, like ME/CFS had, but what had been happening my whole life. It also explained a great deal about my family, all the way back to my great grandmother.

The only problem was, there didn’t appear to be anyone who knew how to diagnose the disease. It’s said that EDS is a rare disorder. Many of us disagree. The problem is not so much that it’s rare, but rather that it’s rarely diagnosed because it’s rarely taught in American medical schools. I’d been trying to get a diagnosis for at least 17 years, been seeing doctors for EDS related problems my whole life, and didn’t get a diagnosis until I figured it out for myself and sought out a qualified doctor who knew how to diagnose it when I was 45.

Had I known sooner, I might have joints that aren’t so severely damaged by years of abuse. Had I known sooner, I might not have such severe POTS. Had I known sooner, I might still have a fully functioning digestive system. Had I known sooner, I might still be working. Had I known sooner that endometriosis was a common comorbid condition, I might not have fought having a hysterectomy as long as I did. So many “had I known’s.”

Now that I have the proper diagnosis, my hope is that new symptoms won’t take so much time to address and treat because it’s fairly well known what comorbid conditions are common to EDS. It’s also much easier for me to get connected to the right specialists who know about my condition, now that I have the support of my local EDS group. No, EDS is no curable and there’s really very little that can be done to reverse any of the damage already done, but I can work to preserve what I have, try to prevent further damage and work with specialists to try to treat what I have as well as possible. It’s not great, but it’s certainly better than going to doctors who want to blame the consequences of my disease as the cause of my problems.

I no longer feel so alone. Though I felt certain this is the disease I had once I was finished researching it and began to enact positive changes that made a big difference in my life right away, I still felt alone and a bit helpless about the things I couldn’t change until I got that official seal of approval. I could change my diet, I could do my own fascia therapy, I could learn about safe exercise for EDS and implement it in my life. I could even research and start taking a wide variety of supplements to help myself feel better and I did. But I can’t do anything about the suspected chiari or CCI all by myself. I can’t do anything more to help my suspected gastroparesis than I already have. I can’t treat my mast cell any better than I already do. As a layperson with only so much knowledge and no medical equipment, I will always need a doctor to partner with me in my care. And let’s face it; it’s hard enough to get them to believe you’re sick in the first place. Having a primary diagnosis can be the difference between them believing you have all these strange comorbid conditions and not; a huge obstacle to getting the testing you need to find out and start getting treated for them. That’s why I’m a huge proponent of getting diagnosed, no matter how hard you have to fight and no matter how long.

There are obvious signs of EDS in most of my family members and we are probably all affected to some degree. My mother developed a lot of the same problems I had, only she was 20-30 years older than I was. My sister has a lot of symptoms, but they haven’t been disabling, thus far. My brother likely has MCAD. My grandmother and great grandmother both had a wide variety of problems that fit EDS, my grandmother spending the last 25 years of her life in a wheelchair because of spine and hip deterioration. For the most part, no one has been incapable of working throughout their adult lives except for me and it really messed with my head for a while.

So what’s different about me? First, it’s important to note that how EDD affects anyone can be drastically different from how it affects another, even in the same family. Also, environmental factors, how you take care of yourself and emotional stress can have devastating effects on a zebra. My upbringing was anything but emotionally stable and secure (you can read a bit about that here, but it’s somewhat repetitive to this) and while we all had it bad, it seems like I got the lion’s share of the abuse and neglect. I had the responsibility of raising myself and my little brother, I was looked on as the family-carer and acted as the family scapegoat after my eldest sister left. I also had to deal with being intermittently homeless as a high school student and dealt with a great deal of shame and hurt that my mother refused to protect me from her homicidal husband another way.  I also dealt with a great deal of shame surrounding my sexuality well into my twenties and a great deal of physical and emotional stress because of my weight and over sexual abuse I’d experienced as a child and a teen. My siblings all have some of these things, but not all and while my sister had gastric bypass surgery to lose her weight in her early thirties and males generally don’t see the same level or severity of symptoms as women, it’s not surprising that neither of them would be as affected.

Also, with my immune system being so poor (partially contributed to by diet, I’m sure) and having so many infections, the antibiotics probably contributed a great deal to the damage of my mitochondria, accelerating the damage to my soft tissues and neurological cells. I’m also certain that all those manual labor jobs, my love to go club hopping and dancing, hiking and generally being constantly on the go did nothing good to help my joints. From what I know now about how to protect the joints, I was doing everything wrong.

In addition to this, nutrition is extremely important with EDS and what our government recommends isn’t really healthy because it’s been motivated by what our most plentiful crops are here in the US rather than what’s most nutritious for our bodies and it took me a long time to realize that. Not only do we need to be very aware of what foods we’re putting in our bodies, but we need to be aware of the chemicals that come with them, avoiding exposure to pesticides, preservatives and non-food addatives that can make us very sick and compound our already complex problems. I talk about this in depth here and here. We need to be aware that we often develop conditions that cause malabsorption and cause malnutrition. We need to supplement what we lack to prevent many of our symptoms, as they can sometimes be signs of vitamin and mineral deficiencies.

It could have been any or all of these things. It could have been none. Likely, it lies somewhere in the middle. Whatever the case, I no longer feel guilty about my illness in whole or part. It simply does me no good. All I can do is to try my best now and in the future to take care of myself the best way I know how to try to achieve the best outcomes and future that I may. That’s all any can ask of ourselves.

In my next article, I’m going to cover everything I’ve done over the last year (since I suspected EDS was the right diagnosis) to start getting my health turned around, including links to articles I’ve written that offer a step by step approach to how you can, too.

 

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Being Diagnosed with #EDS

zebrachampagneCrack open the champagne, my #spoonie friends. The day many of us dream about for years has finally come upon me. I’m happy to announce after 17 years of desperately seeking answers to my myriad strange health problems, I finally have a definitive diagnosis that not only fits my entire health history, but that of my family for many generations. I indeed have Ehlers-Danlos Syndrome(EDS).

For those of you who read my blog and understand how well I’ve researched this illness and understand the problems I have, this probably comes as no surprise to you and you probably understand how elated I am. To those who have EDS and been through the experience of finding out what EDS is long before finding someone who was qualified to diagnose it, you probably understand perfectly well the bullets I sweated prior to my appointment. To be denied a diagnosis as your body literally falls apart and you collect one comorbidity after another like it’s some kind of “gotta catch ‘em all” game, is to be denied proper care, validation of your condition and your feelings, and one of the loneliest feelings in the world.

lonelyzebra

Until you’ve been through it, it’s hard to understand how being diagnosed with an incurable genetic disease is cause for celebration. What I’m celebrating is not the disease. It’s the validation. It’s the access to care. It’s having a name for what I have that I can use with absolute confidence. It’s about no longer having any doubts or getting pushed around by anymore doctors who tell me I just need to “lose some weight” (more on that later). It’s about having a community of other people who have the same diagnosis. Most importantly, it’s about knowing the right measures to take to care for myself properly, preserve what mobility I still have for old age and try to make the best of the life I’ve been given. I am Zebra Strong.

How to Find a Specialist

For all of you still seeking diagnosis, don’t give up! Keep searching for a qualified specialist. It may be easier than you think and YOU ARE WORTH IT. Don’t let all the doctors who have put you off due to their own lack of initiative put you off. Ask your GP. Contact the Ehlers-Danlos Society to see if they have a listing of any doctors in your area. If not, search for a list of rheumatologists and geneticists start making calls. Ask if a doctor in the group knows how to diagnose EDS, whether they take adults and if you need your GP to refer you. Call your local hospitals. Call the hospitals and doctors in the closest major metropolitan area. Join Facebook support groups for EDS (such as EDS Today, EDS-Zebras Need Zebras) and ask for doctor recommendations in your area or if anyone knows of a support group in your area. That’s what I did and eventually found out that there’s actually a local zebra group that maintains a great doctor’s list! My local group was very hard to find. The doctor I saw was 15 minutes away, but it took me a year to find her. I wasn’t looking hard enough.

For my diagnosis, I saw a rheumatologist qualified to diagnose EDS. Unfortunately, there are still a lot of rheumatologists who aren’t trained, but luckily she and everyone in her practice is. I still need to go through the genetic testing, but unfortunately geneticists are in short supply in this country and those who work with adults are even rarer than the diseases they work on. The doctor who diagnosed me and I disagree a bit on the state of my loose skin and she has diagnosed me with Hypermobile EDS (hEDS), so I want to complete the genetic testing to be sure. Personally, I feel it’s best for everyone with EDS to be armed with all the information they need and that means getting the testing done to know your type and genetic mutations and what they mean.

Preparing for an Appointment

Once you have an appointment, it’s very important to be prepared. Arrive with a full personal health history and as much of a complete family history as possible, making sure that you cover as much of the EDS criteria as possible. I printed everything up using bulleted lists and gave it to the doctor’s assistant so she could review it along with my paperwork. Be sure to include everything from comorbid conditions, to stretchy skin and early hypermobility to poor proprioception to frequent colds or infections. Anything and everything matters, no matter how small you might think it is. Start on it weeks ahead of time and go back to it every time you think of something new to add. Mine was three pages long and I didn’t even include any information that was outside of EDS diagnosis since she was part of my regular healthcare system had access to the typical information provided to doctors in network.

If they send you paperwork ahead of time, be sure to fill it out. If not, be sure to take a list of all your CURRENT AND FORMER medications, have the names of all the doctors you’ve seen previously (huge, I know) and be prepared to answer questions about your worst pain, daily pain, when it occurs and how often, along with your current strategies of care. Also be prepared with a list of things you want help with, questions and next steps.

Finally, do your best to leave your past grudges behind. Usually by the time we get to the right specialist for diagnosis, we have been beaten, battered and abused by the system, but remember this is a brand new doctor who has never met you and never done you any wrong. Having suffered enough abuse of my own to have some white coat syndrome. If this is the case, try some of these tactics:

In the weeks leading up to your appt:

  • Ask a friend or relative to join you for moral support and to act as your liaison, preferably someone who is calm and well organized. Discuss with them your concerns and list of questions so they can help you stay on track and make sure everything important gets covered
  • Begin gathering any paperwork, tests, imaging and gathering information you will need for your visit

The day before:

  • Review your list of questions and goals for the appointment and review your paperwork.
  • Put all your paperwork, medications and/or anything else you need to take with you in one easy location by the door to prevent any last minute hunting.
  • Bathe and choose your outfit. Make sure everything you want to wear is clean and ready to go.
  • Take time to meditate, exercise or do deep breathing exercises, whatever you do to try to keep your anxiety under control.
  • Get a good night’s sleep, ensuring you treat your pain properly and taking whatever you need to ensure a good night’s rest (sometimes a benedryl does the trick).
  • Even if your appointment is in the afternoon, set your alarm. Don’t leave appointment day open to surprises.

The day of:

  • Give yourself extra time to get ready. Look presentable and let the doctor know you care about this appointment. It’s okay if you’re too sick to do much, but make what effort you can for your level of ability. Wear clean clothes.
  • Arrive early, even if you don’t have any paperwork to fill out. If traffic is bad, the prospect of arriving late an missing your appointment will only increase your anxiety. If it’s good, this will give you a little time to hang out in the parking lot and meditate or do some breathing exercises, it’s all a win. Don’t like those ideas? Sit in the waiting room and read a magazine or look at your favorite cat videos on your smart phone, but don’t get involved in FB drama or interact with anything that could be detrimental to your mood. This is your time to RELAX.
  • Even if you’re nervous and shaking, remember to smile at EVERYONE. We react to what we see and if you smile at someone, they’re going to smile back at you. A smiling face can be really reassuring!

Questions or Comments? Don’t hesitate to ask and be sure to join me on Facebook or Twitter!