Exquisite Goods

Category: Syringomyelia

A chronic and often progressive neurological condition in which a cyst (syrinx) fills with cerebrospinal fluid (CSF) inside the spinal cord, often enlarging and further compromising the spinal cord. The extent of damage done by a syrinx often depends on the size in diameter and location of the syrinx (as it tends to affect any areas at or below the syrinx).

 

  • Spine Pulled Tight – A Guide to Understanding Tethered Cord Syndrome

    Spine Pulled Tight – A Guide to Understanding Tethered Cord Syndrome

    TETHERED CORD SYNDROME (TCS) INVOLVES A STRETCHING OF THE SPINAL CORD, AND OFTEN YOUR MEDULLA OBLONGATA
    AS WELL, WHICH LEADS TO A HOST OF NEUROLOGICAL PROBLEMS.

     

    Before we talk about Tethered Cord Syndrome, let’s first talk about the anatomy associated with the spinal column (in layman’s terms).

    •  The role of the vertebral column is to hold the spine strong (so it can be upright) and protect the spinal cord from injury. In a normal vertebral column, there are thirty-three vertebrae on each side (seven cervical vertebrae, twelve thoracics, five lumbar, five fused vertebrae in the sacrum and another four fused vertebrae in the coccyx).

    •  Each vertebra in the upper twenty-four vertebrae is separated by intravertebral discs largely composed of the fibrous protein, collagen. The main role of these discs is to allow the vertebral column to move and flex.

    •  The role of the spinal canal is to hold cerebrospinal fluid around the spinal cord, which not only cushions the cord against injury, but it also lubricates the cord, cleanses the cord, and brings essential nutrients that the spinal cord needs. The spinal canal is made up of several layers that form the meninges. These layers are also composed of high concentrations of collagen. The outermost layer of the meninges is the dura mater. The dura mater should be dense and strong, so cerebrospinal fluid cannot leak from it.

    •  The spinal cord relays messages from the brain to the nerves that allow the body to function. When part of the spinal cord is compromised, it can inhibit signals from getting to the nerves from that point downward. The brainstem (midbrain, pons, and medulla oblongata) is attached to the spinal cord at the top (the medulla and spinal cord meet at what is called the cervicomedullary junction) and the spinal cord continues down to the mid/lower back. From there it becomes a delicate elastic band of fibrous collagen-based tissue called the filum terminale that extends from the conus medullaris (the lowest point of the spinal cord before it becomes the filum terminale) to the dural sac at the S2 level.1

    Chiari Malformation has many conditions that can be associated with it (comorbid conditions) and sometimes those comorbid conditions can be at the root cause (etiological cofactor) or one of the causes along the way (pathological cofactor) to the tonsils being as low as they are (making the Chiari “secondary” to one or more “other” conditions). Tethered Cord Syndrome (TCS) is one of those pathological conditions.2 Like Chiari, it is a neurological disorder; however, it is one of the spinal cord.3

    Tethered Cord happens when the sticky fibrous tissue of the filum adheres to fatty/scar tissue or the dura lining of the spinal canal.1 While this tethering can happen anywhere in the spinal canal, it is most common at the lumbosacral level.4 When the tethered filum pulls the spinal cord tightly enough that it causes neurological problems, it becomes known as Tethered Cord Syndrome (TCS). Tethered Cord is most common in patients with Spina Bifida (myelomeningocele, meningocele), Spina Bifida Occulta (lipomeningomyelocele, lipomyelocele) and patients with Ehlers-Danlos Syndromes (EDS), a Hereditary Disorder of Connective Tissue (HDCT) where one or more of the types of collagen (the most abundant protein in the human body) is mutated at a cellular level. Tethered cord can be congenital or acquired. It can be obvious in childhood or symptoms may not present themselves until adulthood. Some children may develop minor signs that are overlooked by untrained medical professionals and can progress slowly or rapidly over time.

    More Symptoms of Tethered Cord Syndrome

    A Tethered Cord Syndrome diagnosis can be somewhat of a challenge. The signs and symptoms of the condition are not always present and when they are, they are often not recognized, so it is important to know all indicators. People with Tethered Cord (TC) can have sacral dimples, discoloration, and hairy patches on their lower back that can lead a doctor to investigate further, however, some have no external signs at all. Some have kyphosis (rounded back) and scoliosis (curved spine). Sometimes radiological criteria are not met or are ambiguous, yet an Occult Tethered Cord (characterized by the presence of symptoms with normal conus position and inconclusive findings of the filum) can still exist.5 Symptoms can be elusive as well and can happen all at once or gradually over the course of many years. Many symptoms worsen due to activity; climbing stairs has been reported as causing pain that varies from uncomfortable to excruciating.

    One of the reasons that Tethered Cord is often overlooked is that many neurosurgeons are not aware of the connection it can have with a Chiari Malformation and the medical tests used for determining if a tethered cord problem exists are not always accurate or accurately read.

     

    Magnetic Resonance Imaging (MRI)

    • A lumbar MRI is usually the first step. This gives a visualization of the spinal cord in relation to the surrounding vertebrae. The actual tethering is not always obvious on MRI, sometimes the only proof of the tethering is the pulling it creates on the spinal cord. Doctors will look for the position of the conus medullaris when looking for signs that the spinal cord is being pulled. The consensus amongst most surgeons is that a normal conus should be located from the T12 to the lower L2. There is much debate on the importance of establishing evidence of a low-lying conus.5 When conus reaches the lower L2 or below, doctors should be investigating why it’s low and consider if the cord might be tethered. When looking for the location of the conus, your position can make all the difference. MRIs are generally performed supine (lying down) and the cord is not pulled as tightly as it is when upright. For this reason, upright MRIs are becoming the method of imaging preferred by most neurosurgeons looking to confirm or deny if tethering exists in a patient showing symptoms. Other signs of tethering that might be visible in a lumbar MRI include an enlarged foramen magnum, thick or fatty filum, presence of fatty tissue inside the canal, or the filum might be pulling to one side of the canal.5

    • A prone MRI of the lumbar region can be an invaluable tool for those where other MRIs indicate that the filum might be pulling to one side (usually the back side) of the canal. With prone MRIs, imaging is done while the patient is lying face down (as opposed to facing up, like most supine MRIs). If the anteroposterior conus movement of >10% of the canal width was evident from the supine to the prone, then the likelihood of it pulling to one side do to tethering is less likely and more conservative management might be better appropriate than a surgical release.6

    • A cervical MRI can also show signs that a tethered cord might exist. The cervical spinal cord can sometimes appear narrow from it being pulled tight. The medulla oblongata can become elongated. This happens because the brainstem is attached to the top of the spinal cord and that cord is being pulled tight, essentially pulling everything down and tight. This elongation of the medulla from the tethering can cause secondary symptoms by itself, known as Dysautonomia.

    · Low/herniated cerebellar tonsils consistent with what is seen in a Chiari Malformation. When the brainstem is herniated (where part/most of the medulla is below the foramen magnum) along with the cerebellar tonsils, it is considered a Chiari 1.5 (which should be a good indicator that you might be dealing with an Acquired Chiari Malformation, where the herniated tonsils are secondary to another condition). One study quoted that out of 2,987 patients with a tonsillar herniation of 5mm or greater, 14% met the diagnostic criteria (based on “generally accepted clinical and radiographic criteria”) and 63% of the 289 patients with tonsillar herniations of < 5mm.5

    · A syrinx is common with Tethered Cord, as it causes a blockage of fluid at the foramen magnum. A syrinx can develop anywhere in the spine, usually in the lower cord, but with Tethered Cord Syndrome it can develop in the lower medulla (Syringobulbia) as well because of the low brainstem is at the point of the blockage of fluid from the Chiari Malformation.

    Even with an upright MRI and every symptom listed, patients are often told they do not have Tethered Cord. This is simply due to a lack of education on the subject and medical bias between doctors. It is important to make sure that you have the images viewed by a neurosurgeon that is familiar not only with Tethered Cord but Chiari and Comorbids as well. (Nearly half of the large study quoted above were referred following a failed Chiari Decompression.5) The combination of the images and the patient’s symptoms should tell the neurosurgeon if surgical intervention is required. Patients often require several consultations before they can find a knowledgeable enough physician.

     

    What We Recommend BEFORE DECOMPRESSION is considered:
    If you have symptoms of TCS, especially if accompanied by any of the MRI indicators mentioned above, it is both reasonable and prudent to ask your neurosurgeon to investigate further before decompression is considered. A Tethered Cord Release Surgery prior to decompression may relieve the tension that is pulling the brainstem and cerebral tonsils downwards reducing the risk of a failed decompression. There is a chance with small tonsillar herniations that the Tethered Cord Release might allow the cerebellar tonsils to rise enough to the point that cerebrospinal fluid flow is reestablished to where decompression is no longer needed. However, failure to release a tethered cord prior to decompression surgery increases the likelihood of a failed decompression. (In fact, in the study quoted above, out of the 3,276 patients with herniated tonsils, 46% of them were referred for evaluation after a failed decompression surgery.5) An MRI of all three levels of the spine should be done to rule out other possible causes for leg/back symptoms along with urodynamic testing, an Electromyogram (EMG) Test and Nerve Conduction Study (NCS) of the lower limbs is also suggested.

     

    TREATMENT OPTIONS:
    For some, physical therapy can help with symptoms for a while. However, ultimately it will likely need to be surgically treated with a Tethered Cord Release.

    Tethered Cord Release (TCR) Surgery involves the untethering of the spinal cord. An incision is made in the lumbar area, the filum terminale is separated and the factors that are tethering the spinal cord to the vertebrae are severed. Surgical treatment is not without risk and does not guarantee relief of symptoms. However, in a large study, up to 83% of adult patients report relief, 16% unchanged, and 1% report feeling worse.5 In children, the numbers are even better with 93% obtaining improved symptoms and 7% unchanged.5 Most patients describe the surgery as extremely painful for the first two weeks and “better than they ever remember feeling” (often because they have been tethered for much of their lives) after two weeks. The most common complication involves retethering (often from the scar tissue from the release) and multiple surgeries may be required over a lifetime. Finding a neurosurgeon experienced with TCRs and the surgical treatment of Ehlers-Danlos patients can sometimes help reduce the risks associated with scar tissue formation, but scar tissue can happen with even the best of neurosurgeons.

    For the TCS patient, herniated tonsils really should be assumed an Acquired Chiari Malformation (even if a small posterior fossa is evident), and by correcting the tethered cord before decompression the decompression will be less likely to fail.

     

    Special Note: There are other conditions that can present with similar symptoms. Diastasis Recti is a type of abdominal hernia common to pregnant women, those with obesity, and EDS patients. This separation in the abdominal muscles is known to sometimes cause lower back pain and many of the same pelvic floor problems seen with Tethered Cord Syndrome (TCS). Unlike TCS however, it does not usually require surgical treatment. If you suspect Diastasis Recti, we recommend that you talk to your Primary Care Physician about referring you to physical therapy to bring your abdominal muscles back together before considering Tethered Cord Release (TCR).7

     

     

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    References: 

    1 Henderson, Fraser C., et al. “Neurological and Spinal Manifestations of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 21 Feb. 2017, <www.onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full>.

    2 “Section of the Filum Terminale Surgery for Tethered Spinal Cord Syndrome in Patients with Chiari Malformation and Syringomyelia.” North Shore-Long Island Jewish Health System The Chiari Institute, Chiari Connection International, 02 Oct. 2006, <http://www.chiariconnectioninternational.com/docs/TCS_SFT_Explained.pdf>.

    3 Quake. “Overview: Chiari Comorbidities & Etiological/Pathological Cofactors [Revised].” Chiari Bridges, 16 Nov. 2019, <http://chiaribridges.org/overview-chiari-comorbidities-etiological-pathological-cofactors/>.

    4 Arslanoglu, A., et al. “Multidisciplinary Combined Approach for Tethered Spinal Cord Syndrome: Radiology, Surgery and Physical Therapy.” Balkan Military Medical Review, 2006, <https://pdfs.semanticscholar.org/8c30/18bf5bfbd6f3e7e5e9c3559bbbfdcac82e04.pdf>.

    5 Milhorat, Thomas H., et al. “Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale.” Surgical Neurology, Elsevier, July 2009. <https://www.sciencedirect.com/science/article/abs/pii/S0090301909002572>.

    6 Aoun, Salah G., et al. “The Use of Prone Magnetic Resonance Imaging to Rule Out Tethered Cord in Patients With Structural Spine Anomalies: A Diagnostic Technical Note for Surgical Decision-making.” Cureus vol. 11,3 e4221. 11 Mar. 2019, doi:10.7759/cureus.4221. <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510567/>.

    7 “A Complete Guide to Diastasis Recti: Truths on Abdominal Muscle Separation.” Braceability, 05 June, 2018. <https://www.braceability.com/blogs/info/diastasis-recti>.

  • Overview: Chiari Comorbidities & Etiological/Pathological Cofactors [Revised]

    Overview: Chiari Comorbidities & Etiological/Pathological Cofactors [Revised]

    When you start to educate yourself on a condition like Chiari, your vocabulary will be challenged. Most of us study with a medical journal article opened in one tab and medical dictionary in the next. Amongst all the medical terminology you will tackle, there are probably a few terms as important to your understanding of Chiari than comorbidities and pathological/etiological cofactors. When two or more conditions tend to co-occur, they are said to be comorbid with one another. It makes no inferences of a causal relationship between the conditions, only that they co-occur. This co-occurrence deduces that a correlation exists, but when the nature of that correlation is not known, they are just said to be comorbidities. When a “causal relationship” is known or suspected, the conditions start being discussed in terms of pathology or etiology, which are similar, but not exactly the same thing.

    An etiological cofactor exists when the “root cause” of a condition is known or believed to be known. That “root cause” is the etiological cofactor. When an etiological cofactor can cause a series of events or conditions that can become “direct causes” for other conditions, that series of events creates a pathology. Conditions along the path are called pathological cofactors. Understanding these cofactors is imperative in understanding Chiari and all of the comorbid conditions that accompany it.

    ETIOLOGICAL COFACTOR:

    Chiari Malformation often seems like a beast that wreaks havoc on our bodies on every level. Indeed it is, but as you can see from the diagram above, it really is not the “root” of everything that is going wrong. There is a bigger beast at work in so many of us, and its name is Ehlers-Danlos. It is not by chance that so many of us with Chiari have so many other conditions in common (especially conditions like Degenerative Disc Disease, arthritis and other connective tissue problems). It is not by chance that so many of us have a history of miscarriage and similar familial histories. It is not by chance that Chiari is more prevalent in females than males. And it is definitely not by chance that Chiari is running in families and they cannot find a definitive genetic link. They cannot find it because they are not looking at the beast hiding in the background.

    Ehlers-Danlos Syndromes are a group of inherited disorders involving a genetic mutation in one or more of our bodies’ collagen. Collagen is the most abundant protein, making up 1/3 of the proteins in the human body, affecting our bones, skin, muscles, and connective tissue[1]. Collagen is often described as a “cellular glue” that helps hold the body together. When that glue fails to hold, everything seems to go awry; before and after birth: skulls can under-develop in utero, organs tend to prolapse, and bones begin to shift as joint laxity increases (including the bones/vertebrae at the craniocervical junction). Ehlers-Danlos is a primary “root cause” of Chiari Malformations and a majority of the other problems we have. The list in blue is far from being a complete list of conditions caused by EDS. They are commonly accompanied with Chiari because they can cause or attribute to a Chiari malformation (pathological cofactors).[2]

    PATHOLOGICAL COFACTORS:

    Cranial Settling occurs when the skull has dropped and the odontoid (C2/axis) enters into the foramen magnum (Basilar Invagination). This drop can further compromise the craniocervical junction and as it pushes everything down, it increases the likelihood of an Acquired Chiari Malformation.

    Craniocervical Instability (CCI) & Atlantoaxial Instability (AAI) usually occurs with cranial settling and Basilar Invagination (BI). The settling and/or softening of tissue can cause a shifting of the C2 (resulting in CCI or AAI) and the cerebellar tonsils (which are already inclined to prolapse) simply drop down with each shift affecting ones ability to tilt/rotate their head.[3]

    Intracranial Hypertension (IH – High Intracranial Pressure) occurs when your intracranial pressure (ICP) becomes elevated. This elevation can happen for a variety of reasons.

    1. Space Occupying Masses (cysts, tumors or hydrocephalus) take up space inside the skull causing a “mass effect.”
    2. When no mass effect exists, many doctors look no further and give the diagnosis of Idiopathic Intracranial Hypertension.

    Because the area of the skull is fixed in an adult cranium and partially fixed in that of a child, the elements inside the fixed space (CSF, blood volume and brain matter) tend to get pushed out wherever they can (the only place that they can escape without breaking through the dura is through the foramen magnum and the brain matter that’s closest to the foramen magnum is the cerebellar tonsils).[4]

    Tethered Cord Syndrome occurs when the tissue inside the epidermis adheres to the spinal cord or filum terminale. While this tethering can happen anywhere along the spinal canal, it is most common in the lower lumbar and/or sacral spine. When this adhesion happens it creates a pulling down of the spinal cord and consequently, the brainstem located at the top of the spinal cord and the cerebellar tonsils just get pulled down with it.[5]

    Intracranial Hypotension (Low Intracranial Pressure, often involving a CSF Leak) usually involves a cerebrospinal fluid leak or an over-draining shunt, we will highlight the former. Ehlers-Danlos patients tend to have weak dura matter. Tears/holes in the dura can happen anywhere in the dura surrounding the brain or spinal canal and they can happen completely spontaneously (without a known cause). When the leak occurs in the spinal canal, they can create a suctioning effect where cerebrospinal fluid (CSF) is being pulled down and out, causing the intracranial pressure (ICP) to drop. The cerebellar tonsils that are already prone to prolapse (due to EDS) end up getting suctioned downward with the CSF.[6] Cranial leaks often happen when high pressure is left untreated until the high pressure causes a leak in the dura mater. In cranial leaks, fluid usually leaks through the nose or ears (less common), and you can often taste the metallic taste of the cerebrospinal fluid in the back of your throat. While both spinal leaks and cranial leaks can cause low pressure and low-pressure symptoms, and while both can start, stop, and start again spontaneously, there is an increased risk whenever there is an opening where cerebrospinal fluid leaks outside of the human body (if cerebrospinal fluid can make it out of the body, microscopic bacteria can make it inside the same opening where it can enter in the meninges).[7]

    Posterior Cranial Fossa Hypoplasia (PCFH) is the only etiological cofactor listed above that is definitely congenital. The role of collagen in bone development has been long-standing, especially its known contribution to certain conditions like Osteogenesis Imperfecta. However, more recent studies are discovering the role collagen plays in congenital posterior fossa anomalies. Posterior Cranial Fossa Hypoplasia is the most commonly “acclaimed” cause of Chiari malformations, but studies show, that even when all of the other causes above are factored out, only approximately 52% of those left (that fail to meet “the diagnosis criteria” for any of the above), have a small posterior fossa.[8]

    COMORBIDITIES: 

    While all of the conditions listed in the diagram are comorbidities, some are etiological/pathological of an Acquired Chiari (even though nearly 100% of us are told that our Chiari Malformation is congenital) and others have Chiari Malformation as their etiological/pathological cofactor:

    Syringomyelia occurs when cerebrospinal fluid (CSF) is obstructed and a CSF filled cyst/cavity forms inside the spinal cord. This cyst is directly related to the obstruction of cerebrospinal fluid that can be caused by Chiari Malformation, Spinal Stenosis (a narrowing of the spinal canal, spinal cyst/tumor, a herniated disc), or irregular curvature of the spine (scoliosis). When that cyst/cavity extends into the medulla oblongata (the lowest part of the brainstem), it is called Syringobulbia, and it comes with a new set of symptoms consistent with the damage being done to the brainstem. So when Chiari Malformation exists with a syrinx, and there is no stenosis or disc problem in close proximity below it, the Chiari Malformation should be listed as the etiological condition of the syrinx. If more than just the Chiari Malformation is believed to be causing the syrinx, each would be more accurately described as pathological.

    Dysautonomia occurs when damage has been done to the brainstem or Vagus nerve. Whenever either of these is damaged, often from compression at/near the craniocervical junction, the autonomic nervous system can begin to dysfunction.

    Confused? If you understand the causal relationships but find yourself wondering if a comorbid condition is an etiological or a pathological, think of it in terms of a domino effect. Only the first domino is etiological. All of the dominoes in between (on the path) are pathological. The important thing to remember in this array of medical terminology is that while everything is definitely not Chiari, it almost always shares a connection to it, and that is why so many of us have so many conditions and symptoms that doctors call unrelated! It is imperative in our fight that we know “what” we have and “why” it is happening. With such a broad spectrum of symptoms (like we all have), we must educate ourselves and not just believe the limited knowledge of our doctors.

    *Revised November 2019

    References: 

    1  McIntosh, James. “Collagen: What Is It and What Are Its Uses?” Medical News Today, MediLexicon International, 16 June 2017, <www.medicalnewstoday.com/articles/262881.php>.

    2 Quake. “The Chiari Malformation Ehlers-Danlos Connection (Short Version).” Chiari Bridges, 7 Dec. 2017, <www.chiaribridges.org/chiari-malformation-ehlers-danlos-connection-short-version>.

    3 Hawkeye. “Overview: Craniocervical Instability and Related Disorders.” Chiari Bridges, 6 Dec. 2017, <www.chiaribridges.org/craniocervical-instability-related-disorders>.

    4 Quake. “Brain Under Pressure – Understanding Intracranial Hypertension.” Chiari Bridges, 10 Dec. 2017, <www.chiaribridges.org/brain-pressure-understanding-intracranial-hypertension>.

    5 Storm. “The Tethered Cord – Chiari Malformation Connection!” Chiari Bridges, 15 Dec. 2017, <www.chiaribridges.org/tethered-cord-chiari-malformation-connection>.

    6 Argent. “Overview: Cerebrospinal Fluid Leaks.” Chiari Bridges, 10 Dec. 2017, <www.chiaribridges.org/cerebrospinal-fluid-leaks>.

    7 Pérez, Mario A et al. “Primary Spontaneous Cerebrospinal Fluid Leaks and Idiopathic Intracranial Hypertension” Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 33,4 (2013): 330-7. doi:10.1097/WNO.0b013e318299c292, <https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040082/>

    8 Quake. “Overview: Chiari Malformation.” Chiari Bridges, 6 Dec. 2017, <www.chiaribridges.org/chiari-malformation>.

  • A Mother’s Story

    A Mother’s Story

    Today is 11th April, 2019. Spring is in the air, yet I struggle to appreciate its presence. My daughters are at school, my son is at home in bed yet again. Like so many other days he is unable to get up. My son is 19 years old and looks just like any other 19 year old. You would never guess that this 19 year old is fighting a tremendously unfair battle every single day and has done so for several years.

    Let me rewind.

    My son was around 9 years old when he first complained of a lack of feeling on his right side and regular headaches. Doctors in Ireland, where we were living at the time, told him to drink more fluids after his daily soccer practice and put the numbness down to a trapped nerve. When he was 14 years old and living in Canada, he was told exactly the same by doctors there. However, when I finally insisted on him being referred to a neurologist, this very neurologist laughed at my son for wasting his time. He was told that it was all in his head. I vividly remember telling him off myself in the carpark on our way home.

    I also remember being disappointed about his worsening school reports, blaming the onset of teenage years for his inability to concentrate and retain information. Blurred vision was also dismissed when his eye test came back just fine. Doctors didn’t grow concerned until he was 16 years old and living in France when a routine soccer medical check-up showed a sudden scoliosis deterioration from 8 degrees to 40 degrees. Subsequent MRIs showed Chiari Malformation (CM) with extensive Syringomyelia.

    Neurosurgeons were quick to reassure him that all should be fine after a decompression surgery. Nevertheless, I spent hours researching these unknown rare conditions and found two experienced neurosurgeons, one in England and one in Belgium, for second opinions. Whereas surgeons in France took a more traditional approach and talked about inserting a shunt, both these surgeons warned strongly against this and so we made the decision to go to Belgium for the surgery. We felt well informed and were full of hope when my son embarked on his healing process 3 years ago.

    Let me tell you where we are now.

    Doctors in Europe tell us that my son is one of the unlucky few as his health has drastically deteriorated. Scar tissue has attached itself to his brain tonsils but that only explains part of his deteriorated health. So I embarked on a mission to get to the bottom of these problems. Surely there was hope to be found in the health system in France, one of the best in the world! After countless appointments with multiple health professionals, we were dumbfounded by the complete lack of understanding, knowledge and pure arrogance in relation to CM and its associated conditions, which resulted in my son’s mental health being questioned yet again.

    I started carrying out my own research, which clarified the distinct link between brain disorders and compromised immune/digestive systems. Whereas his doctors are reluctant to make that link, the evidence is clear. 18 months after surgery, my son got struck down by glandular fever. Again, we were hopeful that this would only be a temporary setback. Today however, my son suffers from chronic fatigue syndrome as well as dysautonomia.

    At our wits end last summer, we turned to a hospital in the United States that specialized in Chiari Malformation. Our first consultation with its Managing Director turned out to be an eye opener. This neurosurgeon could literally finish our sentences. My son was finally understood. It turns out that doctors in Europe had failed to diagnose another condition, Ehlers-Danlos Syndrome (EDS), which caused craniocervical instability. This in itself can be a debilitating condition but the combination of craniocervical instability with brain decompression surgery can be a death sentence. He further explained that such patients are deemed to benefit from Occipitocervical Fixation (OC) Fusion surgery. However, this surgery has not yet received the green light for these conditions from Health Services in Europe.

    Armed with a diagnosis of Complex Chiari, we faithfully returned to my son’s French doctors, only to be met, yet again, by a lack of understanding. My request for an upright flexion/extension MRI was seen as outlandish and peculiar. Turns out, an upright MRI is not yet available in France. Instead they still rely on flexion/extension X-ray images which fail to adequately detect craniocervical instability.

    In recent discussions, our son’s Belgian neurosurgeon cautiously recognizes the link between CM and EDS. However, as these studies are in their infancy in Europe, doctors still carry out decompression surgeries without checking for EDS. He also questions the durability of an OC Fusion but agrees that much more extensive research needs to be carried out in Europe and that my son is extremely unfortunate this hasn’t happened yet.

    So where does this leave my son? In the land of limbo. Knowing that Europe is trailing some 10 years behind the States in this field. France, with its inherent reluctance to change, probably closer to 15 years. School is no longer an option for my son as his brain fog and memory loss have become more and more of a problem, his fatigue too debilitating and his headaches too frequent.

    We are tired of fighting the system, tired from having to spell out the name of his conditions to health professionals, tired of being misunderstood. There are days I avoid going out as I don’t want to answer people’s well-meant questions. There are days I am ashamed of the anger that wells up inside me when friends air their worries about their children’s school results. There are days I feel like I am being punched in the stomach when I see his friends play a soccer match. People tell me I am strong. I don’t agree. I wish I had been strong all those years ago and believed my son over his doctors.

    My son is my hero. My son is a fighter. My son has generally done what health professionals told him to do, taken every medication health professionals told him to take, followed the advice health professionals told him to take, yet the system continues to let him down. When I look into my son’s eyes, I still see this steadfast determination but I now also see pain and disillusionment. My son believed me when I told him we would overcome this together. My son believed me when I told him the worst would be over soon. My son doesn’t believe me anymore. I feel that I have failed him.

    Complex Chiari diagnosed so late is a life sentence. It has brought pain, sadness and isolation, not only to my son but to my entire family. My husband and I are learning to compartmentalize, enjoy moments. We live in hope that our son’s better periods will begin to lengthen and pick ourselves up every time these come to an abrupt end. We have to. We owe it, not only to our son but to our daughters too.

    We continue our journey through the unknown, thankful for the sources of information coming from the United States, usually met with skepticism and resistance by French health professionals. However, one thing I have learned from our journey so far is that we cannot fight these conditions and health services alone. Surely there must be more people out there in Europe. Surely, as a group we can start making a difference. Let’s unite! Let’s educate! Let’s raise awareness! Our children deserve so much better! Our children deserve to be heard, supported, and at the very least, understood!