I'M THE QUEEN OF ENGLAND

I just wanted to quickly note something about my very unscientific poll.

As of today- I asked our readers how many people in their family had ACM and/or its sister conditions. 22 people (including myself) voted.

Most of us have been told that there's either no familial incidence of ACM or it's very low (10-12%) among patient populations. This never made sense to me because most everyone I know with ACM (on the blogs, ASAP.org, CCI) has at least 1 other family member with it.

As of today- 22 people voted. Of them, 11 people had no familial incidence (that they're aware of).... The other 11 people had AT LEAST one other family member.

I may have flunked math, but I still know that's (at least) a 50% familial incidence (here on my blog anyway)!!! One would have to ask themselves... if this isn't indicitive of the real ACM population, why am I attracting so many families with ACM?? I would tell you but the black helicopters over my house are distracting me :)

I would love to see the day that someone would look closer at this. I'm SURE that the number is even much higher than 50%. Specialists don't look closely enough at families. I understand that they don't want to put family members through testing unless they are very symptomatic, but at the same time- I believe there would be a huge benefit to knowing the true statistics (symptomatic or not). It's also beneficial to know if you or your child's brain is hanging out (symptomatic or not)- because hey, it may make you think twice about your next triple backflip off your neighbor's trampoline!

Myself and my 3 children have ACM and its sister syndromes. My mother has occipitalization of the atlas (a common bony anomally with ACM).
Recently, my (maternal) first cousin and her family spent a few days visiting our family. She is my age and has 3 children of identical age to mine. They ALL had signs and symptoms of ACM, TCS and EDS. 2 of the 3 children had Beighton scores of 9!

10-12%?? Right. And I'm the Queen of England.

PRINCESS GRACE

The story of a beautiful little girl named Grace.
As I mentioned in earlier posts, I was concerned for my children after my ACM diagnosis in 2004. I was told that there was only a very slim chance of them also having it. My doctors told me to only have them tested if they showed very apparent signs of Chiari. All 3 kids had vague symptoms over the years, but nothing debilitating. Grace would have an occasional headache and complain of strange pains here and there, but nothing very worrisome.

Grace successfully potty trained at age 2. 6 months later, she began having accidents at night. I assume that this just happens now and then, but it would go away. After it went on for months, I was told that it could be behavioral.
This went on (and off) until she was 4. At age 4 she began getting UTIs and kidney infections. She was hospitalized twice in a short period of time. During her hospitalizations they did ultrasounds, which always came back normal.
A few months later, her infection recurred and she was put on prophylactic anti-biotics for 6 months.

After my decompression surgery in 2005, I would float in and out of Chiari support forums and I'd try to stay updated with the latest findings in the Chiari world.
One day in 2006, I read about a new theory regarding Chiari and Tethered Cord Syndrome. Initially, I blew it off because I was never told I had Tethered Cord.
A short time later, I read up on tethered cord and was astonished by its signs and symptoms. My son Mike and daughter Grace had many overt symptoms of TCS. I went on to read about how it can cause many bladder and kidney issues. The bells in my head starting going off.

After Grace completed her 6 month round of antibiotics, she was scheduled for a repeat ultrasound of the kidneys and bladder. This was done a year after her last.
This time, the ultrasound showed startling results. Over the year, Grace's bladder became enormously dilated. Her bladder was holding over twice (300+ cc) what it should at her age and she didn't even feel it. After she voided, they repeated the ultrasound and she maintained 100+cc residual urine in her bladder- this was even after I went into the bathroom with her and told her to make sure she pee'd every last drop out that she could feel. The ultrasound also showed right-sided hydronephrosis.

So, in the course of a single year, Gracie ended up with a neurogenic, dilated bladder and hydronephrosis. It was at this point I told our pediatrician that she needed to be scanned for Chiari and tethered cord. The doctor looked at me like I was NUTS. After many months of discussing this with family (who'd been through a lot that year thanks to a car accident I had and subsequent cervical fusion surgery)- it was decided that we'd have her scanned after the new year (2008). I will bite my tongue (or I should say tie my fingers) about how I felt about that ridiculous decision to wait- It's moot now, because the wait occurred.

Grace and Mike both underwent complete brain and spinal MRI scans including x-rays under IV sedation (propofol -great stuff!) on 2/6/08. Grace went first and I stayed by her side for the whole thing. Once it was over, she recovered in a small room off to the side. While I sat with her, I was handed the films they just completed and her CD-rom. Being the NEED-TO-KNOW-NOW type of person that I am- I looked right away.
My heart sank to my feet and I'm pretty sure that some invisible man snap-kicked me in the gut. Grace had a very apparent Chiari malformation, which was no surprise to me. What did surprise me?........ The GINORMOUS syringes in her cervical and thoracic cord! The syrinx in her cervical cord was actually bulging it was so wide. I cried my eyes out. The dumbass MRI techs came in to see why I was crying. I showed one of them the syrinx and he just shrugged and said he didn't think it was a big deal. I'm used to Chiari being dismissed by the ignorant, but a professional minimizing the seriousness of THE HOLE in my daughter's spinal cord made me spit fire. How can people be so &^%$ing stupid!? I mean, really!?? Syringomyelia is degenerative, progressive and without halting it, can ultimately paralyze or kill her. If left, will cause permanent spinal cord damage. I really hate stupid people.
I shot the tech a look that could kill and he got the point and backed off quickly.

Michael's MRIs showed no surprises (thank God) as far as I could see. Once they were both fully recovered and awake, we went home and sat in strange silence.
They were both scheduled to go to the Chiari Institute a few days later.

Grace saw Dr.Kula and Dr.Bolognese that day. I can't say that I was surprised by what their findings were, but I was surprised by how quickly surgery was scheduled.
Grace had tethered cord, spina bifida occulta and Ehlers Danlos Syndrome along with her Chiari and Syringomyelia diagnoses. She needed decompression surgery and section filum terminal surgery. There was a few days of discussion about which should happen first. it was decided that she'd have the SFT first, in the hopes that her cerebellar tonsils would ascend once she was no longer tethered.

On February 21, 2008 Grace had her surgery. I cannot tell you how frightened everyone was. She was given Versed (REALLY GOOD STUFF!) before surgery to help ease her anxieties about the IV. I was allowed to go into the O.R. with her, which was comforting for both of us- until-... she entered the second stage of anesthesia. I was warned about it beforehand, but I guess I ignored them because I was not prepared for what happened. Her eyes rolled into the back of her head and her body shook like she was convulsing. 4 of us had to hold her down. I don't think I've ever lived through anything worse than that, particularly since it was then that I was escorted out.

Her surgery was 4 hours long- the longest 4 hours of my life. Dr.Milhorat finally emerged with excellent news. All went perfectly. I was finally able to breathe again.

Mike's surgery was the following day. I'll write about the details of his story on another day. He and Grace shared the same ICU room. their beds were foot to foot.
As crazy as it must sound to have both surgeries done at the same time, it really wasn't. It made it easier on everyone (especially the kids). They supported one another and competed in who would get up first, eat first etc..
The hardest part of it was having one child in ICU while another was being rolled into the O.R.. I'm pretty sure that I aged 10 years on that day.

Grace healed well, but continued to have symptoms. She had headaches, foot drag, continued (almost nightly) incontinence, chronic tummy aches, dysautonomia, sweating and chronic nausea. 2 months post-op she had repeat MRIs. The good news was that her cerebellar tonsils ascended (a lot.. almost 6mm) but she was still blocked because she was originally herniated over 10mm- If you do the math, you'll see that 6mm wouldn't cut it, but it was a nice try. She needed decompression surgery.

We waited until the 6 month post-op mark to do the decompression surgery in hope that her tonsils would continue to ascend. No such luck.
On August 6th Grace had her decompression surgery. The summer leading up to it was awful. It was just weeks worth of torturous anxiety. I wish I didn't know it was coming for all that time. We told her a few days before the surgery at the advise of the wonderful people at Child Life at North Shore University hospital. She took the news well because she felt so awful. She was he bravest little girl I ever saw. The morning of her surgery (at 4:30 am) she woke up with a smile- no tears whatsoever.

Again, she was given Versed (did I mention how awesome that stuff is?). I walked her into the OR again, and thankfully she didn't have the same reaction to the anesthesia she did the last time. I was told the surgery would be 6-8 hours and that we wouldn't be getting any updates until it was over, which is why what happened next scared me to death.
I spent a good hour+ crying my eyes out. And when i say crying, I mean crying from my gut. i was so scared. I finally surrendered and took 2 Xanax that my PCP gave me for this ugly day. it helped and I finally calmed down. About 20 minutes later, i was sitting there and heard my family's name being discussed behind me. I turned around to see a nurse coming toward me with a grim look on her face. My heart almost stopped. She saw my fear and said that everything was okay, then took her hand out from behind her back. She handed me a gallon sized baggie FULL of Gracie's beautiful golden hair. I threw-up in my mouth. That threw me into another hour of tears and fears. The hours went by like days. Her surgery was 6 1/2 hours long but it felt like eternity.

Post-op-
She looked fantastic in PACU. It was amazing how good she looked. She was smiling and happy and had complete pain control. She was quickly moved to PICU where she spent the remainder of the day dozing off. She woke up the next morning and literally hopped out of bed. we were all amazed. She was 18 hours post-op and she was bouncing around like nothing happened. She ate a huge breakfast, took a walk... then reality set in.. The next for days were nothing like the first. She was grumpy, pukey and downright mean. I never saw her like that in her entire life.

She was discharged on day 5 and has recovered beautifully since.
She still suffers from dizziness, nighttime incontinence and nausea, but we're hoping that time will heal those pains.

Grace and Michael were each granted a wish through the Make-A-Wish Foundation. Now that the surgeries are finally over, she can set her sights on something fun.
Something tells me that she'll be looking to meet Cinderella :)

MRIS MRIS MRIS and a CHIARI WALK weeeeeeee

I've tried so many times these past few days to write, but my brain just isn't working well lately.
Brainfarts happen and they happen BAD. I think my Potassium is very low from the Diamox coupled with being a non-compliant Micro-K taker. My legs are cramping and I have had very severe episodes of confusion...followed up by less severe confusion!!
Today has been awful.. I can't talk...Hell, my spellchecker can't even figure me out, so I'm keeping this short.

This week is jammed up with testing for my daughter Katie (9). She's scheduled for , brain MRI, cine MRI, cervical, thoracic and lumbar MRIs, multiple x-rays of the spine (looking for bony malformations- like scoliosis and spina bifida) and 3d-CT of the head.

They'll be dividing these up between 2 days and attempting them without sedation. Katie is terrified of needles/IVs so I try (whenever I can) to give her options that exclude them.

We see the neurologists and neurosurgeons at The Chiari Institute on Friday (9/19)

I need this all to be over soon. My worst nighmare will be if she has syringomyelia too.
Her brain MRI shows the lower portion of the cervical cord and there is some suspicious looking dark areas that have me very worried. We already know that she has 7-10mm cerebellar tonsil herniation. It looks like retroflexed odontoid too, but, hey, what do I know? I've only been staring at Chiari related MRIS online for 4 years now, which, by the way, is probably 3 years, 11 months and 29 days longer than our pediatrician.

Anyway- we'll see what this week brings.
Please excuse my possible absence... I'm not sure how much time this week will afford me.

Also- There is a National Chiari Awareness Walk this Saturday 9/20.
If you'd like to walk or sponsor me, please visit ConquerChiari.com . There is an online form in the upper right where you can register in your city as a walker.

If you'd like to sponsor me... This is the link


I will be at the LI Patchogue event.

WALKER: Jen Kelly
PLACE: Patchogue, Long Island NY

Thank you for your prayers for my Katie. I know I don't even have to ask for them.

LIPSTICK

Validation is hard to find when it comes to Chiari- and for the life of me, I'll never understand why, when considering that the most fine-tuned organ in the body is being compromised. One would think that compression of the cerebellar tonsils and brainstem, coupled with adhesions from a lifetime of friction between the two and the restriction of cerebral spinal fluid flow would cause some very serious neurological problems and dysautonomia. Pardon the pun, but this seems a no brainer to me. How, and why, do doctors dismiss this? I believe a large part of it comes from their egos protecting their ignorance. If they dismiss what they do not know or understand, they won't look foolish when having to admit they're unsure. Rather, they pretend to know all about it and feign expertise by confidently proclaiming that they would surely recognize Chiari -and of course, none of us have it.
Such games are dangerous and perpetuate our suffering. Sometimes forever.

If doctors took the time to understand chiari malformations, they would learn that there are a HUGE array of symptoms associated with it, for fairly simple reasons. We are, after all, all built slightly different. While human anatomy is mainly the same, we come in different shapes and sizes. If one person with a large foramen magnum has a large, thin chiari, he will likely be less symptomatic than someone who has a smaller foramen magnum with any degree of tonsillar herniation. Blocked space is blocked space! The size of what is plugging up the hole matters NOT. What matters is that there's blockage and brainstem compression. This is simple stuff, people.

For some reason, it would seem that the majority of physicians (of all specialties) were taught the very basic symptoms of chiari at one time or another (during residencies or in med school). Those signs and symptoms seem to consist of "crushing sub-occipital headaches, nystagmus and dizziness". Most of the time, chiari is not considered even when a patient presents with those maladies- which is sad in and of itself, but what is sadder still is that those symptoms are but a fraction of reality.

I've heard specialists say that they've had patients who present with "temporal lobe seizure like episodes, migraine headaches and vision complaints" whom these docs claim have "incidental, asymptomatic Chiari Malformation". Excuse me??? Am I the only one who sees the stupidity in that? Why woudn't a neurosurgeon attribute those complaints to a symptomatic chiari malformation!? They don't because the patient doesn't have nystagmus or the "classic sub-occiptal headaches"?? Morons.
If a patient has an "asymptomatic chiari", they should be symptom free- maintaining the same happy-homeostasis of "normal" people!!!!!!!!!!!
Good gawwwwd, I hate dismissive, egotistical, arrogant, ignorant doctors!

I watched a patient with "asymptomatic chiari" present with sudden heart palpitations and the inability to walk without falling down. I'm no neurosurgeon but wouldn't you think her BRAINSTEM COMPRESSION may be the culprit?? MAYBE!!??? Nah.. she was a rule-out acute heart attack and sent on her merry way- sideways.

Now, I'm not a chiari freak who attributes every hangnail to ACM. I actually have no use for people like that, but let's be smart. If your BRAIN is hanging out of your SKULL (that happy protective place), something is WRONG. Hello!? It's your BRAIN. Sometimes I'm pretty sure our doctors forget that we don't have a spare one. Your brain is supposed to be INSIDE your skull- that's the point of your skull. There is a HOLE at the base of your skull so that your spinal cord and cerebral spinal fluid can have a nice pathway to your brain. If you plug-up that hole- problems are sure to follow.

Am I nuts? Yes, but that's beside the point. This is very simple stuff. If any other body part or organ was displaced, not a soul would dismiss it. If you walked around with your tongue hanging out of your face since birth, surely someone would say.. "hey, that thing belongs in your mouth" and a doctor would eventually fix it and attribute your social alienation to the obvious. We're talking about our BRAIN, damnit. Give messing with it, the credit it deserves!!

Let's talk about another thing... I look completely normal (or so people tell me). This does my condition no justice. Why is it that I must skip the shower and wear no make-up to my appointments before doctors will believe that I feel like CRAP? Why must I look like shit if my neurological system is fubared? Don't dismiss me anymore because of my lipstick, pal!
Do NOT judge how people feel based on how they look - It's childish, dismissive and unprofessional.

Now let's talk about radiologists..
I have had dozens of MRIS. My children have had dozens of MRIs. As you can see by our films, our Chiaris are hardly subtle (note the part of the brain that NOT IN THE SKULL WHERE IT SHOULD BE). We've all had at least one report say "normal MRI of the brain" and/or "incidental chiari". Oh , really? I bet their radiologist brains are on the inside! (then again, maybe not).

I would like to ask them to define "incidental" for me. If you do not know my symptoms and you've never examined me, who are you to tell me that your findings are incidental? If you found a malignant tumor in my head when my chief complaint was headache, would you call it "incidental"? If you're reading a chest xray to rule out pneumonia and find a massive tumor, do you call that incidental? With each MRI I fill out a questionaire with what my complaints are. Guess what? If I write visual disturbances and headaches and you find a chiari malformation while ruling out MS or a mass... GUESS WHAT? If I don't have a mass or MS, my chiari is no longer "incidental". It's a clinical finding. Say "eureka!!!" and pat yourself on the back.
Attaboy.

When you send your "incidental" reports to PCPs, the PCPs incidentally dismiss the significance...............in spite of their patient's brain falling down! no big whoop, right? Until it's their daughter's/wife's/mother's droopy brain.. I bet *then* that little incidental finding becomes something significant.

If only some insignificant Hollyweirdo would find out they have Chiari.. Maybe *THEN* these silly little incidental findings will finally matter.


/rant off

*edited 9/18*

My odd ACM complaints-

• Visual Disturbances- blurred, peripheral vision loss and multiple vision with photophobia
• Episodes of upper body skin feeling severely sunburnt
• Sharp, shooting pain in face
• Numb fingertips
• pins/needles in arms and hands
• Severe brain fog/cognitive dysfunction
• Drop attacks
• galactorrhia
• decreased feeling/sensation throughout body
• neck pain
• neck "clicking" and "crunching"
• Eye pressure/pain
• Headaches
• hypotension 80s/40s
• peripheral cyanosis
• fatigue
• Joint pain
• Muscle weakness
• Shortness of breath -feeling like lungs will not inflate completely...while lungs always "sound clear".
• gamut of hormonal dysfunction
• low body temp
• low back pain
• numb perineum
• chronic sinus troubles

SOME PORK FOR ME

We need Federal Grant money to supplement the generous private donations to ASAP.org.

In 2008, our Congress authorized $17.2 billion in Federal Grant appropriations. It’s time they share the pork with the zipper heads.

Please contact me if you're willing to help me lobby. I have no experience, but I'm willing to learn.

We need research!!!!!!!!!!!! Last week!

MY 3 BEAUTIFUL CHILDREN

I had 3 children during my pre-diagnosis days.
My youngest (Grace) was 4 when I had my surgery. Upon my diagnosis, I became very concerned about whether Chiari is genetic. I was told that there is only a very small percentage of familial incidence; less than 12%, with a then 50% chance of that gene ever becoming functional. I was told that there was no need to test my children unless they showed very obvious signs of ACM.

They were wrong. I should have had them tested sooner. All 3 of my children have varying degrees of Arnold Chiari Malformation, Syringomyelia, retroflexed odontoid, basilar invagination, Spina Bifida Oocculta and Ehlers Danlos Syndrome.

I will tell each of their stories during the next week.

Too little is understood about the genetics behind these conditions. The 8-12% familial incident rate needs to be looked at more closely. I would bet my titanium cranial plate that this number is hugely underestimated. While I know 8-12% is the actual percentage found among patient populations, I challenge how hard they’re actually looking at their patient’s families. All too often I hear symptomatic patients referred to as having “incidental asymptomatic Chiari” simply because doctors don’t understand the wide array of symptoms associated with Chiari.

AN INTRODUCTION TO MY DROOPY BRAINS

My diagnosis of Arnold Chiari Malformation during the fall of 2004 was both a nightmare and a blessing. After just turning 32, my life was becoming even less manageable than before, which was a very sad feat in itself.

I'd literally spent my entire life wondering what was wrong with me. As a child I tried as hard as I could to be organized, like my friends were. Their clean, neat desks and backpacks used to amaze me. Why couldn't I do the same thing? Why was simple tasking so hard for me? Why would I read the same page 5 times before I'd even notice? Even then, the words would go in, but miss the processing needed to comprehend and retain it. I would try to speak a word, but forget it before it would hit my lips. My brain knew what I was trying to say, but my mouth just wouldn’t cooperate. It’s almost like a disconnect. I can see and hear the words in my head- they just won’t come out. I carried around enormous guilt, assuming I was simply lazier than my friends. Maybe I was just not as smart as they were? What never made sense was -why on some days I was sharp as a tack, full of wit, savvy and remarkable organization skill, while most other days I couldn‘t assemble a 10 piece puzzle if it would‘ve saved my life.

This dreaded condition named Chiari is made so much more torturous by its teasing ways- It’ll allow you to know your full potential just long enough to yank it out from under you with the blink of an eye, or a literal sneeze. My very own brain feels violated by my own brain.

I would have similar problems with my vision. I could and couldn’t see all at the same time. Sound crazy? I swear it’s true. I couldn’t explain it as a child (which was maddening), but all I knew was that my vision was very “wrong”. I could see, but my brain just didn’t process what it saw. I knew that my eyeballs were working, but I couldn’t explain that, and regardless, I still couldn’t see.

Of course, back then, I couldn't articulate these thoughts. I just knew something was very different about me and it hurt and scared me. Aside from these torturous cognitive problems, I was also very ill. I was the kid who never felt well as a teen. I had headaches and neck pain, that was so common I took it for “normal”. I know that sounds odd, but I just accepted that anytime I wore a necklace or halter top, I would pay for it with a headache that could kill a horse. People with congenital Arnold Chiari Malformation don’t really know “normal”. All we have are our good days, bad days and known triggers. A painless, astute and coordinated day is a trifecta akin to scoring a real unicorn from your birthday candle wish. It just doesn’t happen, no matter how hard we wish it.

I spent my late teens and twenties chronically ill with severe fatigue, generalized malaise, dizziness, headaches. I went to dozens of different doctors and specialists from age 15 on. I was told I had everything from mono, to chronic fatigue syndrome, to “you’re too tired (no kidding!) take a nap”, to the typical PMS label, and of course, the standard “you have anxiety and depression”. I don’t know a person with Chiari who hasn’t been issued a mental health diagnosis first. It’s infuriating, insulting and prophetically causes you to actually begin feeling crazy! It’s for this reason I started my story out by saying that my diagnosis was also a blessing. I finally got validation that something was indeed wrong! I wasn’t crazy.

I eventually had an MRI of my brain (thanks to a doctor who finally took the time to hear me). I had several strange symptoms that couldn’t be ignored. I was still producing milk 3 years after I stopped breast-feeding my youngest child. This is more abnormal than it sounds. Your milk should stop production shortly after you stop nursing. I was also having drop attacks, where my legs would just collapse without warning. My MRI was to rule out a pituitary tumor and/or MS. The MRI found neither. It did, however, find a venous angioma that required a consult with a neurosurgeon. To this neurosurgeon’s credit, he took a very thorough history from me and was fascinated by my symptoms. After looking at the MRI films, he concluded that the venous angioma was “nothing”, but I had something called a “Chiari Malformation”. He went on to tell me that it really wasn’t a problem because it wasn’t very long (5-6mm). He dismissed it and sent me off to a neurologist to rule-out “temporal lobe seizures’. I’d like to note that my tonsilar herniation was very apparent, yet it was never so much as mentioned by the radiologist in his report. I went home and looked up what a chiari malformation was. I was floored. They could have named this condition after me. Its symptoms included almost every complaint I’ve had for 20 years! I called the neurosurgeon and asked him why he wasn’t more impressed with his find since I had so many signs and symptoms of ACM. He told me that Chiari categorically was not my problem because I wasn’t herniated enough. The ignorance in the neurosurgical community regarding ACM is absolutely astounding. I explained that I even had (in my possession) medical records that dated back to when I was 11 years old complaining of dozens of the symptoms of ACM. He still dismissed me. I knew I needed to do more of my own research then. I also called the MRI radiologist and asked him why he ignored my brain falling out of my skull. He asked me to bring the films back in so he could look, and all he said was that it was an oversight. He then wrote an addendum to his report. How much more flip can a person be about someone’s brain!????

After countless hours scouring the Internet, I found The Chiari Institute. I was blessed to find out that this world renowned treatment center was 10 minutes away from my home.

I ultimately had a posterior fossa decompression with duraplasty 4 months after diagnosis on February 18, 2005. It took 2 months to get my family on board with the idea that I needed this surgery. I literally would have given up one of my limbs for any chance of regaining my cognitive function. I was actually herniated more than twice what the MRI showed. My vertebral arteries were imbedded and my brainstem kinked.

I’ve since had about a 60% improvement in my symptoms. I no longer have drop attacks and my eyes and brain finally work in conjunction. My cognitive function is still not what I hoped for, but I am very pleased that I tried. .I have no regrets about my surgery- other than I wish I had it 20 years sooner- Which brings me to my children…

Help is needed seeking Federal Grant money to supplement the generous private donations to ASAP.org.
In 2008, our Congress authorized $17.2 billion in Federal Grant appropriations. It’s time they share the pork with the zipper heads.