CHIARI MALFORMATION.

WHY THESE 2 WORDS ARE LIFE CHANGING NOT JUST FOR THE PATIENT BUT THE WHOLE FAMILY..

IN 2018 OUR LIFE WAS AS NORMAL AS A FAMILY WITH 6 KIDS, PREGNANT MOTHER, FATHER WHO WORKED ON THE LOCAL NEWS, 4 DOGS, 5 (ISH?) CATS AND A FISH COULD BE. UNTIL THE CALL IN APRIL... 

He always had little quirks about him- he was super flexible like a Gumby doll, he had headaches, but he was a typical kid- played sports year round - pretty much every waking moment was soccer, hockey, basketball, lacrosse.. School, rec, travel teams and it was his life.  He always had headaches and backaches and even strange reflexes but nothing that anyone seemed to be concerned about.   He wasn’t one to complain much anyway, it was all more of a minor annoyance to him and he never let it stop him. However,  as he started growing around the end of 2017 he appeared to be growing kind of crooked... something was off and with the continued headaches (and someone with scoliosis) I made an appointment to have him checked.  His doctor agreed and sent him to sports medicine.  The doctor there had concerns about his lack of reflexes along with the other symptoms and sent him for an MRI which was pretty immediate.  The MRI was on a Friday evening and by Monday morning shortly after 8 am she had already called twice... She almost immediately got to the point.  The MRI showed that he had a cyst inside his entire spinal cord.  You could not even see the actual spinal cord.   Just the top where it almost split and where it forked off at the end. I had to stop her.  I was getting ready to take our daughter to elementary school so I was in my room getting dressed.  I could tell this was going to be a lot of information and I knew I would not remember totally accurately.  This was like tunnel vision.  I found a sharpie and a receipt and started writing. This was something called Syringomyelia (a disorder in which a fluid-filled cyst (called a syrinx) forms within the spinal cord. This syrinx can get bigger and wider and elongate over time, damaging the spinal cord and compressing and injuring the nerve fibers that carry information to the brain and from the brain to the rest of the body.)  His case was incredible.  It was not just an inch or 2, it was the worst the doctors had seen.  Beyond that he also was diagnosed with Chiari Malformation.  This is when the cerebellum extends out of the brain and into the spinal cord often limiting the flow of spinal fluid.  It causes debilitating headaches and other issues.  It also turns out that his 4th ventricle wasn’t working properly and if we looked like he did we would be paralyzed. It still amazes me to this day when I stop and think about it.  His body actually made due with what it was given and adapted.  How amazing is that?  Basically something that naturally happens when an embryo is developing did not.  His body compensated for that.  They could not believe he was playing sports or even functioning at the level he was.  His headaches became far worse and his eyesight was affected as well (he’s in progressives and his sight changes more often than a typical persons might).We were then told we would be meeting with the top pediatric neurosurgeon in Maine and his condition was not something that does not go away but it could be managed by Chiari surgery. We met with the Neuro team and about two weeks later (that is two weeks of actual sleepless nights and feeling scared and helpless) he had a “decompressive suboccipital craniectomy and cervical laminectomy” This  is a surgical procedure performed to remove the bone at the back of the skull and spine. The dura overlying the cerebellum is opened and a patch is sewn in to expand the space and then correct the route of his spinal fluid and hopefully that, in time maybe some of the Syringomyelia’s syrinx would lessen.  They essentially gave him a stroke at the base of the cerebellum so that that part of the brain would die and he would have the room he needed.  Honestly I could not remember from Biology class what the Cerebellum controlled.  So here is a very quick lesson.  In the layer connecting the cerebellum to the rest of the brain there are lots of neurons.  An information superhighway.  The cerebellum has a direct role in motor control.  It not only helps us balance and have smooth motor coordination but it processes pain to help us react quickly to removing ourselves from it. In his case the fact that his head could not contain his brain resulted in pressure on his brainstem and caused dysfunction in his autonomic system.     There are also many comorbidities that are often seen with Chiari.  Connective tissue disorders like Ehlers Danlos Syndrome cause complications. 

• Other disorders of cerebral spinal fluid flow and disorders of the cranio-cervical junction
• Syringomyelia
• Connective tissue and hyper mobility 
• Ehlers Danlos Syndrome
• Arachnoiditis
• Basilar Invagination
• Hydrocephalus
• Neuropathic Pain Syndrome
• Pseudo Tumor Cerebri
• Scoliosis (Spinal Curvature)
• Spina Bifida
• Tethered Cord Syndrome 
• Mast Cell Activation Syndrome

He had his initial surgery done in May of 2018 and as crazy as it sounds not, hoped to be out on the soccer field by fall and on the freshman team.  The doctor said he was confident he could correct it and that surgery in May meant soccer in August! After surgery though, life didn’t improve the way we had expected.  Not even close.  He became more and more unstable and appointment after appointment no one in Maine could figure out why.  He had sometimes 4 appointments a day.  He missed the end of 8th grade and as we went into the summer of incoming freshman year he fought so hard to get back to normal but something wasn’t right.  We began to seek other opinions as things continued downhill.  He was almost bed bound at this point.  As a 14 year old boy he lost the majority of his friends, they just went on with their lives and he could not participate in any activities and at 14 no boy really thinks about that.  Even walking was hard for him.  The debilitating condition was causing so many issues and his life had literally done a 180.  We promised that no matter what it took we would get to the bottom of this.  He was an outwardly normal child before surgery- now he couldn’t sleep at night, slept all day, was losing weight, choking on food and drinks, horrible headaches, couldn’t hold his head up, his jaw was now completely dislocated and caused his face to change shape, his feet would turn blue and purple, his circulation was completely effected, very low blood pressure, his mood was affected and his memory as well.  His TOTAL health took a dive.  The syrinx had tinned some so it was confusing for everyone.   I don’t think I personally slept for months ... Researching everything I could and it seemed he was likely suffering from craniocervical instability. No one in our state specialized in this.  We found an expert in New York City and made an appointment to see him. The condensed (yes this is actually condensed version) more testing was done to get ready for this appointment- sleep studies, swallow studies, MRIs, CT scans, x rays, and finally we were able to see the doctor.  Immediately he indicated craniocervical instability and that Connor had a connective tissue disorder and hyper mobility. It was obvious now that his brain stem was at a 120 degree angle before the original surgery.  This told us that  prior to the original surgery there was an underlying issue and that by removing his c1 he essentially became a bobble head. this was crushing his brain stem.  He wore a hard collar for a 2 month trial to put his head back into the right spot and hold it there.  This did make improvements.  Not sure he saw them right away but us around him did. It also caused people to make fun of him.  Why anyone would make fun of someone who had been through what he had I will never understand.  He continued with daily appointments- Physical Therapy, visits with his Sports Medicine DO (Who I consider a hero).   He couldn’t be in school like a normal freshman.  He was trying to just function and keep living until we figured out a plan.  During a follow up appointment in NYC he had a CT scan done and it showed bony erosion where the c1 vertebrae was along with retrolisthesis in 2 of the neck vertebrae.  They said it was time to schedule his second decompression (revision) and he needed to be fused from his skull to c-3 at 15.  You can imagine this was upsetting news but he knew that he couldn’t live the way he was and had to take the chance that putting his head back on properly would help him continue to live.  At the time of surgery his brain stem was at just above a 90degree angle at this point.  Normal is 150 degrees.  His autonomic system was a mess and one cannot physically live like this. April 28 of 2019 Connor, Finn (who has been with Connor through everything and we sweetly call his emotional support baby) and I flew to NYC for a couple of weeks for his surgery.  The next day he had the surgery and they confirmed to me that he was very hyper mobile and the first surgeon had been generous in his removal of the skull.  They had to place the fusion plate a bit higher up but it went well.  Recovery was hard but instantly we could tell that by putting his head back in the correct spot he could eat without choking all the time.  Immediately his jaw was back in place!  (He was made fun of for how his jaw looked during the time between surgeries to add to all of this and the plan had been to break his jaw and wire it back in place had this not worked).  We came back to Maine and he’s been recovering since.  All of the hard work in PT had to be restarted (he has awful balance, fine motor skill issues, visual perceptual motor issues, executive functioning issues) along with OT.  All he wanted to do was play sports again.  After 6 more months in a hard collar (and being made fun of at school) they took it off and then in August he was cleared to play sports… WHAT?  Most people with Chiari do not go back to sports.  While I do not know what the diagnosis has planned for the future, I do know that he is one of the most resilient people I have ever met.  There are continued headaches and a sleep disorder that makes it impossible to have a normal schedule. There is still pain.  Kyphosis and Scoliosis along with the Syringomyelia, Complex Chiari and Elhers Danlos Syndrome will always be a part of his life.   According to his top neurosurgeon who is considered an expert worldwide, many people who are treated for a Chiari malformation experience some degree of emotional difficulties and/or cognitive changes.   Not to mention having the medical professionals overlook the fact he was unstable in his head/neck/ brain before his original surgery.  There are many pills and supplements to take daily and other strange side effects like “pathological urticaria.There’s a high chance that more procedures will happen at some point but we are truly trying to live in the moment.  He will continue to be seen by his doctors in Maine, Boston and NYC but this is the most “normal” he’s been since this all started.Even if he downplays how amazing it is, he played in his first soccer game in almost 3 years.  If that is not some kind of miracle, I am not sure what is. Chiari does not just affect the person diagnosed, as you can imagine as a family of 9 life is crazy as it is.  Everyone was impacted by this.   My advice to anyone diagnosed with this is PLEASE research this.  Join facebook groups, reach out.  DO NOT just go with the flow and assume if a doctor says they are an expert in this particular field that they are with each and every different possible diagnosis.   Sometimes you have to look at the whole person diagnosed and go from there.  Chiari is never usually alone. I have designed and arranged a couple of Chiari Awareness shirts and a portion of those sales will go to research and awareness.   ALSO there is a specific gift card that is a Chiari designed one.   

PS. IF YOU FIND THE NO LOOKING BACK NOW CONNOR - THAT IS HIS ACTUAL X RAY :) (USED WITH HIS PERMISSION OF COURSE)

 

 

WHAT IS CHIARI MALFORMATION

A Chiari malformation is a structural abnormality at the back of the brain and skull. Normally, a large hole in the base of the skull accommodates the connection between the brain and spinal cord. This connection point is surrounded by fluid that can move freely between the head and spine. In someone with a Chiari malformation, the back of the brain (the cerebellum), is pushed down through this opening, creating pressure on the spinal cord and restricting that fluid movement between the head and spine. That pressure leads to a wide variety of symptoms, the most common being headache and neck pain, which typically gets worse with exertion (exercise, coughing, sneezing, and even laughing). Another frequent complaint is temporary tingling or numbness in the hands and fingers. (See Symptoms of Chiari.)

Symptoms typically appear between the ages of 10 and 20 years. Although many people with Chiari are born with the malformation, most patients don't know they have it until symptoms appear in later childhood or early adulthood, as the skull and tissues of the neck mature with skeletal growth.

Chiari malformation, which is also known as "cerebellomedullary malformation syndrome," is named for Hans Chiari, the Austrian pathologist who first described three types of brain malformations in the 19th century. (It is sometimes referred to as Arnold-Chiari malformation, recognizing the contributions of German pathologist Julius Arnold.) Today there are six recognized Chiari types, but type I (referred to as CM-I) is by far the most common.

Type I: Chiari Malformation Type I (CM-I), is by far the most common type of Chiari malformation. As described above, some of the brain tissue at the base of the skull (the cerebellar tonsils) crowd into the large skull base opening, called the foramen magnum, which is where the spinal cord attaches to the brain. Many patients with a CM-I will also develop a cyst in the spinal cord, a condition referred to as syringomyelia.

Type I.5:  Chiari Malformation Type 1.5 is an advanced form of CM-I that  is diagnosed when the entire cervicomedullary junction, and not just the cerebellum, protrudes below the skull. Not all doctors and medical centers are familiar with this sub-category of Chiari and its treatment.

Type II: This malformation is universally present in children with open neural tube defects (spina bifida aperta or myelomeningocele). This malformation is not limited to the cerebellum but also involves the brainstem and other portions of the brain; the majority of these patients also have hydrocephalus. Children with Type II Chiari malformation usually exhibit signs of breathing and eating difficulties and should be identified at birth.

Type III: This extremely rare birth defect occurs when the skull does not close completely during fetal development, causing some brain tissue to protrude outside the skull in a sac behind the head.

Type IV: This type of Chiari malformation is even more rare than Type III, and occurs when the cerebellum fails to develop completely during pregnancy.

Type 0: This has recently been recognized as a form of Chiari where the herniation doesn’t meet normal criteria but a syrinx is present and causes symptoms.

What Causes Chiari?
Although the exact cause of Chiari is unknown, it is thought to be the result of abnormal fetal brain development during pregnancy. There is thought to be some genetic component to Chiari, since the defect can (rarely) be found in family members but no specific genetic cause has ever been identified. Some rare conditions that result in abnormal bone growth (craniosynostosis, skeletal dysplasia, achnodroplasia, etc.) can also present with similar symptoms and structural abnormalities.

https://weillcornellbrainandspine.org/condition/chiari-malformation

 

WHAT ARE COMMON SYMPTOMS?

SYMPTOMS OF CHIARI MALFORMATION 

Someone may have a Type I Chiari malformation for years without knowing it — Chiari often produces no symptoms until adolescence or early adulthood. The malformation is sometimes identified when a patient has an MRI scan for another reason, but it's more typically identified after symptoms begin to appear. Those symptoms may include:

Headache that gets worse with exertion, including exercise, coughing, sneezing, or laughing. The pain may also be experienced with certain movements, such as bending forward.Neck pain, specifically at the base of the neck or between the shoulder blades.DizzinessTingling or numbness, usually in the hands (and rarely in the legs)Unsteady gaitLoss of fine motor skillsDifficulty swallowing or choking on liquidsSpine deformity (scoliosis)

Since these symptoms are commonly found in other medical conditions, Type I Chiari can be difficult to diagnose and is often misdiagnosed. (See Diagnosing and Treating Type I Chiari.)

Infants with any type of Chiari malformation may show symptoms that include:

Difficulty swallowingGagging or vomitingIrritability during feedingExcessive droolingA weak cryArm weaknessStiff neckProblems breathingDevelopmental delaysFailure to gain weight

Infants with Type II, Type III or Type IV Chiari have more obvious signs and are often diagnosed while still in utero. These types of Chiari are very rare, and can cause serious neurological issues or death.