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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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Chiari Malformation: What You Need to Know

Chiari Malformation: What You Need to Know

Part I of our Chiari Malformation Awareness Month Series

It’s Chiari Malformation Awareness Month and time to put this important neurological condition in the spotlight. It’s a subject near and dear to many EDS zebras, as it is a common comorbid condition to the Ehlers-Danlos Syndromes.  Chiari Malformation can also be congenital and is believed to be the widest known cause of CM today, however it is possible this may be a misconception due to the failure of many to recognize the role that hypermobility and craniocervical instability may well play in the development of Chiari later in life.

There are also a number of socio-political factors that block the treatment and discovery of Chiari, which will be explored in the second part of this two part series. Part two will also include the firsthand perspectives and experiences of people who have a confirmed Chiari Malformation (CM) diagnosis so we can get an intimate picture of what it’s like to live with the condition, though it’s important to understand that like most chronic illnesses, no two people seem to experience CM quite the same. In this first post, we will walk through the basics of CM, learning what Chiari Malformation is, the four known types and how they are classified. Of course no informational post on a condition would be complete without exploring the known causes, symptoms, and treatments.  

What is a Chiari Malformation?

It is said that the Chiari Malformation affects 1 in 1,000 people: However, the increased use of diagnostic imaging has shown that Chiari malformation may be much more common(1). Chiari Malformations are structural defects located at the in the base of the skull where the spine meets it. These structural defects can cause the brain to sag into the spinal canal, causing herniation of a portion of the cerebellum, cerebellar tonsils and/or the fourth ventricle. Depending on the severity, there are a variety of symptoms and complications that come with Chiari Malformation.

The cerebellum is the part of the brain that controls balance, memory, cognition and motor skills.  Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it. This is called the foramen magnum.  In CM, part of the cerebellum extends below the foramen magnum and into the upper spinal canal, causing pressure on the cerebellum and brain stem that may affect functions controlled by the cerebellum and block the flow of cerebrospinal fluid (CSF).

Learn about Cerebrospinal Fluid and Lumbar Puncture: here.

There are four types of chiari malformation. According to the American Association of Neurological Surgeons, they are classified in the following ways:

 Type I occurs during fetal development and is characterized by downward displacement by more than four millimeters, of the cerebellar tonsils beneath the foramen magnum into the cervical spinal canal. Anomalies of the base of the skull and spine are seen in 30-50 percent of patients with Chiari I malformation.

Type I is also believed to include the formation of Chiari Malformation through Craniocervical Instability, where CM often meets with EDS or another Hypermobility Spectrum Disorder (HSD), such as JHS, Marfan Syndrome, or Loey-Dietz Syndrome. According to the Pain Relief Foundation, “Craniocervical Instability (CCI), also known as the Syndrome of Occipitoatlantialaxial Hypermobility, is a structural instability of the craniocervical junction which may lead to a pathological deformation of the brainstem, upper spinal cord, and cerebellum. It primarily occurs in patients with Ehlers-Danlos Syndrome and other hereditary disorders of connective tissue (4).”

The Ehlers-Danlos Society notes that we need to develop a better understanding of the prevalence and variance of CM in EDS/HSD, along with educating neurosurgeons on the role of hypermobility may play in chiari malformations (5).

Diagram compare a human head absent Chiair Malformation in comparison to diagram's depicting Types I and II. Image property of the Zebra Pit.

Type II is characterized by downward displacement of the medulla, fourth ventricle and cerebellum into the cervical spinal canal, as well as elongation of the pons and fourth ventricle. This type occurs almost exclusively in patients with myelomeningocele, a congenital condition in which the spinal cord and column do not close properly during fetal development.

Type III includes a form of dysraphism (a spectrum of congenital anomalies resulting from incomplete or aberrant neural tube fusion, 3.) with a portion of the cerebellum and/or brainstem pushing out through a defect in the back of the head or neck. These malformations are very rare and are associated with a high early mortality rate or severe neurological deficits in patients that survive.

Type IV is the most severe form and the rarest. The cerebellum fails to develop normally. There may be other associated malformations of the brain and brainstem. Most babies born with this malformation do not survive infancy (2).

Symptoms Associated with Chiari Malformation

According to the NIH’s Chiari malformation Fact List, the hallmark sign of Chiari malformation is headache, especially after sudden coughing, sneezing, or straining.  Other symptoms may vary among individuals:

  • neck pain
  • hearing or balance problems
  • muscle weakness or numbness
  • dizziness
  • difficulty swallowing or speaking
  • vomiting
  • ringing or buzzing in the ears (tinnitus)
  • curvature of the spine (scoliosis)
  • insomnia
  • depression
  • problems with hand coordination and fine motor skills 

Some individuals with CM may not show any symptoms and symptoms may change or fluctuate, depending on personal physiology, the compression of the tissue and nerves and on the buildup of CSF pressure. 

Infants with Chiari malformation may experience the following:

  • difficulty swallowing
  • irritability when being fed
  • excessive drooling
  • a weak cry
  • gagging or vomiting
  • arm weakness
  • a stiff neck
  • breathing problems
  • developmental delays
  • inability to gain weight (1).

Of course, this is just a basic list of the most common symptoms of CM. As mentioned, it is possible for a Chiari malformation to be present, but completely asymptomatic (free of any noticeable symptoms). In these patients, the condition is usually discovered through MRI taken for unrelated reasons. However, patients may experience symptoms in the future. It has also been known for symptoms to fluctuate over time.

 As the condition progresses, there are many comorbid conditions that can develop with CM and different types have different symptoms. According to the NIH, common comorbid conditions include:

Hydrocephalus is an excessive buildup of CSF in the brain.  A CM can block the normal flow of this fluid and cause pressure within the head that can result in mental defects and/or an enlarged or misshapen skull.  Severe hydrocephalus, if left untreated, can be fatal.  The disorder can occur with any type of Chiari malformation, but is most commonly associated with Type II. 

Spina bifida is the incomplete closing of the backbone and membranes around the spinal cord.  In babies with spina bifida, the bones around the spinal cord do not form properly, causing defects in the lower spine.  While most children with this birth defect have such a mild form that they have no neurological problems, individuals with Type II Chiari malformation usually have myelomeningocele, and a baby’s spinal cord remains open in one area of the back and lower spine.  The membranes and spinal cord protrude through the opening in the spine, creating a sac on the baby’s back.  This can cause a number of neurological impairments such as muscle weakness, paralysis, and scoliosis. 

Syringomyelia is a disorder in which a CSF-filled tubular cyst, or syrinx, forms within the spinal cord’s central canal.  The growing syrinx destroys the center of the spinal cord, resulting in pain, weakness, and stiffness in the back, shoulders, arms, or legs.  Other symptoms may include a loss of the ability to feel extremes of hot or cold, especially in the hands.  Some individuals also have severe arm and neck pain. 

Tethered cord syndrome occurs when a child’s spinal cord abnormally attaches to the tissues around the bottom of the spine. This means the spinal cord cannot move freely within the spinal canal. As a child grows, the disorder worsens, and can result in permanent damage to the nerves that control the muscles in the lower body and legs.  Children who have a myelomeningocele have an increased risk of developing a tethered cord later in life.

Spinal curvature is common among individuals with syringomyelia or CM Type I.  The spine either may bend to the left or right (scoliosis) or may bend forward (kyphosis).

(1)

Diagnosis of Chiari Malformation

CM is typically diagnosed by a neurologist, preferrably one with an expertise in treating CM.  The doctor will perform a physical exam and check the person’s memory, cognition, balance (functions controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled by the spinal cord).  The physician may also order an MRI, X-ray or CT. The most common imaging used is MRI. There are problems with diagnosing Chiari through the use of traditional supine positioning: However, this will be covered in our next post in this series.

Other tests the doctor might order, according to the AANS, include sleep or swallowing studies, a BAER test, myleogram, or SSEP (2).

Chiari Malformation Treatment

Left – Pre-operative. Right – Post-Operative. Image property of Mayo Clinic.

In the case of asymptomatic patients, no intervention is needed. However, monitoring of the patient, including regular check-ups, is usually recommended. In many cases, Chiari Malformation symptoms and disease progress may only be relieved or halted through surgical intervention. According to the NIH, these procedures are as follows:

The most common surgery to treat Chiari malformation is posterior fossa decompression (PFD). In the case of type II CM, a PFD is usually followed by a spinal fusion, where hardware is placed to create a supportive structure for the head and neck. This creates more space for the cerebellum and relieves pressure on the spinal cord. 

The surgery involves making an incision at the back of the head and removing a small portion of the bone at the bottom of the skull. This procedure is known as a craniectomy.  In some cases the arched, bony roof of the spinal canal, called the lamina, may also be removed to create sufficient space for the cerebellum. This procedure is referred to as a spinal laminectomy. The surgery should help restore the normal flow of CSF, and in some cases it may be enough to relieve symptoms while other patients show no improvement or even a worsening of post-operative symptoms.

Next, the surgeon may make an incision in the dura, the protective covering of the brain and spinal cord.  Some surgeons perform a Doppler ultrasound test during surgery to determine if opening the dura is even necessary.  If the brain and spinal cord area is still crowded, the surgeon may use a procedure called electrocautery to remove the cerebellar tonsils, allowing for more free space.  These tonsils do not have a recognized function and can be removed without causing any known neurological problems.

The final step is to sew a dura patch to expand the space around the tonsils, similar to letting out the waistband on a pair of pants.  This patch can be made of artificial material or tissue harvested from another part of an individual’s body.

The Zebra Pit provides everything you need to know about Chiari Malformation in this post, from the different types, to common comorbid factors and symptoms, to diagnosis, treatment and outcomes.

Infants and children with myelomeningocele may require surgery to reposition the spinal cord and close the opening in the back.  Findings from the National Institutes of Health (NIH) show that this surgery is most effective when it is done prenatally (while the baby is still in the womb) instead of after birth. The prenatal surgery reduces the occurrence of hydrocephalus and restores the cerebellum and brain stem to a more normal alignment.

Hydrocephalus may be treated with a shunt or tube that drains excess fluid and relieves pressure inside the head.  These tubes drain the excess fluid into either the chest cavity or the abdomen so it can be absorbed and disposed of by the body. 

An alternative surgical treatment in some individuals with hydrocephalus is third ventriculostomy, a procedure used to improve the flow of CSF.  A small hole is made at the bottom of the brain cavity, diverting the CSF flow to relieve pressure.  In cases where surgery was not effective, doctors may open the spinal cord and insert a shunt to drain a syringomyelia or hydromyelia, which is increased fluid in the central canal of the spinal cord (1).

What’s Next?

Today, we learned about what Chiari malformation is, the four types and their symptoms, diagnosis and surgical interventions. The next post in this series on CM will explore the outcomes for patients with Chiari Malformation, along with the socio-economic impacts that affect receiving treatment of this complex disorder in both private and public healthcare settings. It’s now available here: The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability

Then our final post will include interviews by people who have either received, or are awaiting treatment along with information about another group of patients, who strongly suspect CM, but cannot even get the proper the imaging for confirmation due to the strictures these socio-economic factors create. It’s now available here: 7 People with Chiari and CCI Share Their Stories

Let’s start the conversation early! Are you one of the suspected undiagnosed? Have you been diagnosed and/or treated? Let us know your story in the comments! And as always, thanks for joining us for this educational post about Chiari malformation.

Resources and Related Reading:

  1. National Institute of Health. Chiari Malformation Fact Sheet.
  2. AANS. Chiari Malformation.
  3. Science Direct. Learn more about Spinal Dysraphism.
  4. The Pain Relief Foundation. What is Craniocervical Instability?
  5. The Ehlers-Danlos Society. Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes (for Non-experts).
  6. NORD. Chiari Malformations.
  7. Conquer Chiari Website
  8. Piper, RJ, et al. The BMJ. Chiari malformations: principles of diagnosis and management

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Chiari Malformation may be one of the most underdiagnosed conditions for spoonies and zebras with chronic head pain and other neurological symptoms. If you have EDS, HSD, JHS, GHS, Marfan Syndrome, Loey-Dietz, ME/CFS, Fibromyalgia or a similar condition, you need to know about Chiari Malformation symptoms, along with how its diagnosed and treated.
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Mast Cell Disease Day and Resources for Sharing

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The New Awareness Ribbon

Today is the first ever worldwide Annual Mastocytosis and Mast Cell Diseases Awareness Day. For the Occasion, a new website has been started to support awareness efforts around the world http://mastocytosis-mcas.org/. The site offers links to mast cell disease information in many languages and connects people with support organizations available in their country.

I don’t have anything new prepared to celebrate the day. To be honest, I wasn’t aware it was awareness day until I checked twitter this morning (oops!) so instead I wanted to share with you a few valuable resources you can share to raise awareness online and in person throughout your day, including the website above.

Did you know The Mastocytosis Society has a number of great, easy to print infographics in PDF to help you explain what these rare and complex disorders are to others?

TMSprint
Get them here; tmsforacure.org

On the same page, you can also find brochures to give to EMERGENCY ROOM staff when seeking emergency treatment along with brochures about Mastocytosis and MCAS. They also have a guide called “Emergency Room Protocols: A Handy reference guide to provide everything you need for emergency room visits as a patient with a Mast Cell Disorder,” and is available here.

Also, don’t forget about the great educational opportunities available at TMS. They have webinars, annual conferences and even one day regional conferences for patients and care providers.

They also offer a listing of support group meetings submitted from around the U.S.

The Mastocytosis Society Canada also offers some great resources including this general information brochure. You can also test your knowledge about Mastocytosis and MCAS with their Awareness Quiz in addition to accessing a plethora of knowledge about the condition much like TMS has.

Keep in mind that there are MCAD societies in the UK, Australia and several other countries as well that may have great resources for English speakers and things can easily be translated these days. There are studies done around the world along with differing medical practices and we can learn from them all.

Finally, here are a couple of my own favorite memes I’ve used here and across social media to help spread awareness and understanding of my condition:

MCADsymptoms

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I hope this helps everyone achieve their goals of spreading awareness today and keeps everyone a bit safer in doctor’s offices and emergency rooms.