Jennifer Brea: I have craniocervical and atlantoaxial instability

[Sushi]

My road to diagnosis is a story unto itself. I won’t share it here but suffice it to say that I was eventually diagnosed with craniocervical instability and atlantoaxial instability (CCI/AAI). My craniocervical junction, that is, the region where the skull connects to the upper cervical spine, is hypermobile due to “lax” ligaments.

See also: https://forums.phoenixrising.me/ind...-cause-of-your-cfs.56908/page-16#post-1011234

 

[Diwi9]

Also see @jeff_w website: https://www.mechanicalbasis.org/

 

[Murph]

Amazing. I was shocked to hear she had got sick again and extremely pleased the community was able to spit out a possible explanation!

In a way I'm cross we have yet more hypotheses to add to the enormous pile of possible causes of ME/CFS but if it could help I'm glad.

 

[Diwi9]

Amazing. I was shocked to hear she had got sick again and extremely pleased the community was able to spit out a possible explanation!

In a way I'm cross we have yet more hypotheses to add to the enormous pile of possible causes of ME/CFS but it seems it helps so I'm glad.

It makes me wonder about how neuroinflammation, perhaps in the brain stem, may explain some of the dysautonomia many ME/CFS patients experience.

 

[dreampop]

Amazing. I was shocked to hear she had got sick again and extremely pleased the community was able to spit out a possible explanation!

In a way I'm cross we have yet more hypotheses to add to the enormous pile of possible causes of ME/CFS but it seems it helps so I'm glad.

I'm shocked to hear she got better? Did she fully recover?

 

[Murph]

I'm shocked to hear she got better? Did she fully recover?

She got some treatment that made her well enough to do the tour for Unrest. Then a bit later she couldn't breathe.

details here: https://medium.com/@jenbrea/a-new-d...tDEyi9zycSUVU18yiqICw6TbCfkhwsdRKan8YIlXyun7M

 

[pibee]

but if CCI is cause of her condition, how would that be linked to mold intolerance and immunological or infectious issues she has (based on response to Valcyte )?
Could CCI make one more sensitive to mold? :-/

 

[jeff_w]

but if CCI is cause of her condition, how would that be linked to mold intolerance and immunological or infectious issues she has (based on response to Valcyte )?

They're related. Infectious diseases can degrade collagen. EBV, Bartonella, and other infections are known do this, as demonstrated by peer-reviewed research. This could explain the viral onset of CCI and/or ME. CCI literally happens when the skull and spine ligaments, which are made of collagen, fail.

Here are some articles about collagen being degraded by EBV, Bartonella, and other infections:

Cross reaction of antibodies to a glycine/alanine repeat sequence of Epstein-Barr virus nuclear antigen-i with collagen, cytokeratin, and actin

Herpes-simplex virus encephalitis is characterized by an early MMP-9 increase and collagen type IV degradation

Rheumatological presentation of Bartonella koehlerae and Bartonella henselae bacteremias: A case report

Could CCI make one more sensitive to mold? :-/

Yes. It did in my case. After my surgery to fix CCI, my MCAS went away. It seems my MCAS was neurologically-based. I no longer react to dust, cats, mold, etc.

 

[Kenshin]

How would I get tested for this in UK?
I have most of the classic M.E symptoms and I notice some loose joints, thumbs bend more than usual,
knee caps wobble etc.

 

[Gingergrrl]

@Forçe e Honra Tagging you in case you had not seen this thread yet (which we were discussing in another thread )

 

[Hip]

After reading @jeff_w's amazing story of his recovery from ME/CFS symptoms and POTS after addressing his craniocervical instability and the brainstem compression this instability causes, I have been grouping together as many conditions as I could find which cause either compression of the brainstem or compression of the cervical spinal cord.

There are actually a number of these conditions:

• cervical spinal stenosis — spinal canal becomes too narrow, which can put pressure on the nerves
• syringomyelia — fluid-filled cyst in the spinal cord which compresses the spinal nerves
• Chiari malformation — where brain tissue is pushed into the spinal canal due to a skull which is too small
• tethered cord — where spinal cord is "stuck" to a structure within the spine such as scar tissue
• craniocervical instability — instability of head & neck bones compressing the brainstem or upper spinal cord

All of these conditions cause compression of the brainstem, or compression of the cervical spinal cord which joins the brainstem. And all these conditions can cause ME/CFS-like symptoms.

I was wondering whether there might be a reason for this; and certainly this area seems important in ME/CFS, as two brain autopsies of ME/CFS patients have found enterovirus infection in the brainstem. And dysfunction of the brainstem has been implicated in ME/CFS, most recently in this 2018 study.

 

[Hip]

From Jeff's website:

As of October of 2018, six people on Phoenix Rising, all with a hallmark ME presentation, have been diagnosed with CCI/AAI after reading my story. Many, many more on Phoenix Rising have contacted me, saying they’re trying to be evaluated but are unable to access the necessary resources to do so. This is a significant barrier for many.

It makes you wonder what percentage of ME/CFS patients might have craniocervical or atlantoaxial instability.

 

[rel8ted]

I no longer react to dust, cats, mold, etc.

I am in awe that is even possible. I have been adding to the list of things I react to for the last several years, including foods.
How in the world did you even find a doctor to diagnose that????

 

[jeff_w]

I am in awe that is even possible. I have been adding to the list of things I react to for the last several years, including foods.
How in the world did you even find a doctor to diagnose that????

This is the story of how I got diagnosed with CCI. There's also a page about how to get evaluated and a page about which neurosurgeons to see.

www.MEchanicalbasis.org

 

[Hip]

@jeff_w, to your knowledge, do people with craniocervical instability or atlantoaxial instability generally display a change in symptoms according to the position that hold their head or neck in?

From your fascinating website, you say that:

And, when I would turn my head to the right, I would nearly lose consciousness. I also began having difficulty breathing. It seemed that my body was somehow “forgetting” to breathe.

And in @JenB's remarkable article she mentions that the positioning of her head seemed to affect breathing:

One night, as I laid down to go to sleep, I stopped breathing. To be clear, I was fully awake. I lay there, mostly aware of my surroundings, but I couldn’t move and I couldn’t speak and when I tried to breathe, nothing happened. I tried again and again. If I tried really hard, sometimes I could make my diaphragm quiver. But I could never will myself to breathe. After about 15–45 seconds, the automatic breathing response that should have been there would kick in. I’d gasp for air and as soon as I’d gotten some, I’d stop breathing again.

For 45 minutes I did this. Breathe, not breathe, breathe, not breathe. We had no idea what was happening (this had never happened before). Finally, we realized that if you rolled me onto my side, I could breathe normally. So that’s what we did: I stopped sleeping on my back and haven’t laid on the back of my head since July.

Then one day I realized, if I turned my head too far to the left, it would immediately triggger my symptoms: I would not only stop breathing, I would start listing leftward, unable to move or speak.

So that's two craniocervical instability cases where head position has affected symptoms, and has also severely hampered the normal breathing mechanism facilitated by the nervous systems (presumably the nerve signals were not getting through to the diaphragm/thorax muscles due to nerve or neuron compression).


I am sure there will be many ME/CFS patients reading yours and @JenB's stories and questioning whether they might also have craniocervical or atlantoaxial instability. So I am wondering if patients with these instabilities often find that head position greatly alters their symptoms. If so, then that could be a vital diagnostic clue.

It seems that in both your cases, you were alerted to the possibility of craniocervical or atlantoaxial instability as a result of experiencing greatly altered symptom severity, especially in breathing ability, according to head and neck position.

 

[JenB]

Hi @Hip. I believe I had a mild case of this for a very long time (perhaps since my onset or at latest, 14-18 months later), but never associated my symptoms with my neck or my head position. It was only after the thyroidectomy that the positional nature of the symptoms (that turning my head or laying on it made everything worse) became clear. There are several papers re: general anesthesia in rheumatoid arthritis and Down Syndrome and their relationship to CCI/AAI (two communities in which this is common). Surgery is a common trigger that can make everything worse.

CCI/AAI is also *very* common in the Ehlers-Danlos Syndrome community and you'll see many cases similar to mine and Jeff's. Although, I do think the difficulty breathing is a less common symptom and is associated with more severe cases of CCI as I believe you need to have significant cranial settling to cause that particular symptom. The other diagnoses you mention that cause compression (excluding the stenosis) are also common in EDS and are all associated with faulty connective tissue: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31549

Here are some pages you might add all this new wisdom

https://www.me-pedia.org/wiki/Brainstem (would be good to have both the inflammation studies and the discussion of brainstem deformation on the same page).

https://www.me-pedia.org/wiki/Collagen (bonus if you can find any papers on enteroviruses and collagen. I could not, but haven't looked very hard).

 

[Judee]

Yes. It did in my case. After my surgery to fix CCI, my MCAS went away. It seems my MCAS was neurologically-based. I no longer react to dust, cats, mold, etc

I've noticed that my chemical sensitives are worse when my neck is getting to the point that I need a chiropractic adjustment.

@JenB, I read some of what you've gone though on your website yesterday. Have you had the surgery yet? Also with the correction of either the brace and/or the surgery (if you've had it), has your fatigue improved any?

 

[JenB]

Hi @Judee. No, I haven't had the surgery yet. Cervical collar hasn't improved my ME at all but does prevent nearly all the post-thyroidectomy symptoms. But cervical collar /= surgery. It's immobilization but it's not really traction. Traction does make me feel amazing but it's hard to tell what real benefit will be as it's temporary and not like I can walk around and do things while doing traction.

 

[perrier]

In simple terms, which symptoms ought one to look out for. Thank you.

 

[Hip]

The other diagnoses you mention that cause compression (excluding the stenosis) are also common in EDS and are all associated with faulty connective tissue: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31549

One possible link between weakened connective tissues and the viruses in ME/CFS that infection can up-regulate production of connective-tissue degrading enzymes. Coxsackievirus B for example ramps up production of various matrix metalloproteinases (MMPs), which is a whole family of enzymes that destroy connective tissue proteins like collagen, elastin and gelatin.

Coxsackievirus B infection increases the enzymes MMP-2, MMP-3, MMP-8, MMP-9 and MMP-12. These enzymes are secreted as part of the immune response.


I had my own experience of probable increases in connective-tissue degrading enzymes after catching my virus: about 12 to 18 months after I caught the Coxsackie B4 virus which triggered my ME/CFS, I developed a sudden-onset crêpe paper-like wrinkling of the skin all over my body, but most prominently on the top of my hand. Here is a picture I took years ago of these sudden-onset fine wrinkles on my hand:

Sudden-onset crêpe paper-like fine wrinkling on my hand,
caused by my CVB4 viral infection

Some friends and family who caught the same virus as me also developed these crêpe paper wrinkles (except those under 30). The wrinkles look very similar to a disease called mid-dermal elastolysis, which is caused by loss of elastin in the mid-dermis layer of the skin. So my hunch is that elastin is being degraded in my skin as a result of MMP enzymes induced by the virus.

I also developed sudden-onset receding gums (periodontitis) within just months of catching this virus. Periodontitis in part is caused by MMP enzymes eroding gum connective tissue.

My rapid-onset receding gums from viral infection

Periodontitis is treated with low-dose doxycycline 20 mg daily, which inhibits various MMPs.

I have also heard occasional stories of ME/CFS patients losing their fingerprints; possibly that is also due to connective-tissue degradation. And in Dr Ritchie Shoemaker's chronic inflammatory response syndrome(CIRS), MMP-9 is often high (he treats high MMP-9 with a low amylose diet and high dose fish oil).

I've detailed some MMP inhibitors in this post.



Another way that a virus might cause connective tissue dysfunction or degradation is through infecting fibroblast cells. Fibroblast cells play a primary role the manufacture and maintenance of connective tissue: these cells secrete the basic ingredients like elastin and collagen needed to build and repair connective tissue.

Coxsackievirus B is able to form persistent infections in fibroblast cells (and in the Richardson 2001 ME/CFS brain autopsy, he actually found brain fibroblasts were infected with enterovirus). Thus if that persistent infection alters the functioning of the fibroblasts, it may also explain why CCI/AAI may appear in ME/CFS patients with coxsackievirus B infection.

So it seems to me there may be two ways a chronic infection can lead to connective tissue dysfunction: via up-regulation of MMPs, and/or by persistent infection of fibroblasts.