Please be advised that I am not a doctor, I am a Mommy. This is Kaylees story and our experiences that I would like to share in hopes of maybe someday helping another Mommy ;)
What is Chiari Malformation I?
I like this definition and it’s simple to understand without
having a neurology degree.
Chiari malformations (CMs) are structural defects in the cerebellum,
the part of the brain that controls balance. Normally the cerebellum and parts
of the brain stem sit in an indented space at the lower rear of the skull,
above the foramen magnum (a funnel-like opening to the spinal canal). When part
of the cerebellum is located below the foramen magnum, it is called a Chiari
malformation.
CMs may develop when the bony space is smaller than normal, causing the
cerebellum and brain stem to be pushed downward into the foramen magnum and
into the upper spinal canal. The resulting pressure on the cerebellum and brain
stem may affect functions controlled by these areas and block the flow of
cerebrospinal fluid (CSF)— the clear liquid that surrounds and cushions the
brain and spinal cord—to and from the brain.
As far as the causes, there are many opinions however I won’t
say the cause because it’s just that a matter of opinion. I can tell you this.
I never did drugs in my life leading up to the moment of Kaylees birth or
thereafter. Her father was not a drug user. Drug users were actually never
allowed near my children, but that’s another story. I didn’t take Motrin for a headache, I drank
tea with honey or I lay in a dark room. Yes I had an epidural at child birth but
that was the extent of my drug taking. Not even marijuana and I mean that,
never. I did not drink alcohol during pregnancy with Kaylee. I never was one to
drink a lot anyway when I wasn’t pregnant but for the occasional game night we
had or wedding, party or holiday. So I guess I’d be what they call a “social drinker”
but I didn’t drink around my kids and so it limited my alcohol use lol. In the
beginning of my pregnancy I was at risk of miscarrying due to low progesterone.
I took progesterone suppositories and these were said to be the reason why I
was able to continue with my pregnancy. I have my own opinions about that as
well but yes one of the doctors tried to link the progesterone to the Chiari.
Who knows? Will we ever? Who cares what caused it? It was here to stay. So yes,
there are some sites that say it 's caused by genetic mutations (lovely) and others say that it "can be" caused by drug/alcohol abuse and that’s
hurtful to read for Mom’s like me. It takes away the fact that there are many cases
that were not caused by such things and weakens awareness. That being said, it
is the last time I will defend that.
Anyway, here's her story:
Anyway, here's her story:
From the day that I brought Kaylee home I was concerned
about her. If I even expressed concern I was accused of “comparing her to the
other kids”, which was never the case. I have always seen my children as their
own separate person, with separate strengths and weaknesses (Brian is my
favorite, did I say that out loud lol?). But that’s the thing, my children are
each individually my favorite people on this earth, for different reasons. They
each have this beautiful light in them that shines brightly, they are so much
fun, so very smart about things way beyond their years. But Kaylee, she had
this sweetness, this softness to her the day that she was born. I don’t know
why but the first moment that I had her alone, I held her cradled in my hands,
she was so tiny, and the room was dimly lit. I looked at her and my first
thought was “she’s looks like a wounded bird”. I don’t know why, I’m a little
wacky, but I felt that.
She was born with a
dislocated hip which luckily did not need surgery, her first few weeks were
spent at Orthopedic doctors in the city and X-rays but it just healed it self
with the help of double diapers for a while. They wrote it off as I had a lot of
amniotic fluid and she floated around so much at the end and dislocated it. Funny
enough, Meghan was born with the same thing; all my kids are double jointed. I
am double jointed and spent a lot of my first year in a cast on my leg and hip
issues happen to run in the family. They saw no correlation. I would later find out that Kay also has
Ehlers Danlos Syndrome. We will talk about that in that awareness month lol but
more and more I am reading about links to EDS and Chiari which 10 years ago the
doctors refused to link it. In the
months that followed her birth my main concerns were that she only woke up to
eat and then she would fall back asleep.
She was a very slow eater. One
hour feedings were not uncommon. I would
constantly have to undress her just to make her too uncomfortable to
sleep. She never cried. Never.
At times her skin would appear to be the color blue. Many visits to the doctor were made for this
reason. There was always some
explanation that would settle my mind for a time.
My instincts said that something wasn’t right. She was very
weak and listless as a baby. Blood test
were always done and always fine.
All of her milestones were later than normal, she never
crawled but instead scooted like a caterpillar dragging her body. Everything
she did looked painful and slow. She didn’t walk until 14 months old. Her lower
lip was always drooping and she drooled a lot! Everything other than physical
was on target or above, she was very smart.
I must stress that while my other children had reoccurring
ear infections until they were five, as well as huge tonsils, strep throat,
quite often it seemed they were always on some antibiotic. However, Kaylee is my healthiest child. I would have to say that maybe she has been
on antibiotics 6 times in her life. About five were due to staph infections on
her skin (that’s another story LOL). She has always had a great immune
system.
By her second year, I was fine with it all and I had no
worries except that she would choke on everything. I’d have to dice everything up that she ate. I just shrugged it off as she shoves it all
in at once and of course she’s going to choke. But when she spoke it was very
soft, if she coughed it was very light and unproductive if she was sick. All of
her movements were gentle and deliberate. We joked that she always sounded like
Marge Simpson or like a smoker for 30 years lol. She had a very raspy voice.
Raspy voices aren’t a normal thing as cute as they are.
Not until she was 4 years old did I truly feel that
something is wrong. She got tired so
easily and yet never seemed to put enough effort into anything that she should
be so tired. She was slow with walking,
running, she couldn’t push the wheels on any bicycle. Then she had a horrible
virus in May of that year. She had
diarrhea for seven days, uncontrollable.
Nothing was stopping it, and all she did was sleep. I treated it as the doctor said and when I
took her to the emergency room they just dismissed it as a horrible virus and
gave me instructions on how to treat it.
I didn’t understand how this child who never caught anything to date
from her sister and brother, could have such a bad virus. We were a family of five and not one other
person in our house got any sign of any virus.
All of a sudden Kaylee would have these episodes where she would have a
glassy eye look, almost like she was daydreaming and this was always followed
by a headache that would make her very dizzy (she’d say her head was tickly) and she would lay down wherever we were and
fall asleep. At a wedding she would put two chairs together and go to sleep
during the YMCA. At any party, she’d be on the stairs asleep. If we went
anywhere, she’d cry if she had to walk so I would put her in a stroller, where
she’d sleep. I heard “she’s just lazy”, “she’s just the baby”. But I knew, this
wasn’t normal and I did not baby her or enable this behavior. This set my wheels in motion.
When she went for her well visit I expressed my concerns to
my pediatrician who knew my children like the back of his hand. The headaches were the biggest concern because
what four year old has headaches like that? So painful that you can visibly see
how bad they are? When he noticed that Kaylee had poor muscle tone and I spoke
of my other concerns he sent me to have tests done. I gave him a list of all of
my concerns since birth and I said humor me, check her for anything that fits.
He was awesome and he did just that without question!
First we did the SWEAT test. This was a scary test for us
and the results seemed to take the longest. She showed signs of cystic fibrosis
and as much as I told myself not to google it, I couldn’t stop. That came back
fine. All of her blood was fine however;
they suggested that we give her vitamins with IRON. She went for the SLEEP EEG and that came back
fine. She was evaluated by TIPSE, who
evaluates children’s milestones for the board of education in NY, in all
areas. They did Psychological,
Educational, Occupational, Physical, as well as Speech. She was one year ahead in all areas with
exception of parts of the physical and occupational where they found her to be
nine months behind. The neurologists
suggested that Kaylee have Occupational and Physical therapy as soon as
possible and TIPSE didn’t feel that she was behind enough to give it to
her. It’s not like I had a name of an
illness that they can compare it to or understand why she needed this, mainly
for preventive reasons. The neurologist then did an OPEN MRI on Kaylee and
called us when he found the Chiari Malformation. We have never heard of this in
our life. The neurologist didn’t say
much more than the basics (I am not fond of this doctor but I will not go into
detail on how terrible his bedside manner was or how he thought it’d be
perfectly fine to leave on an answering machine message, after six months of
testing and so many questions, that our daughter had brain damage NO BIG DEAL,
many people live their lives with little or no complications, seriously???) and
that I shouldn’t research it on the internet because it would just look like
some big bad ugly thing and I would get nervous. He’d see her in six months and do more tests
depending on her “symptoms”. To say I was a raging lunatic at 9:00pm that
Friday night, is an understatement. I called my doctor immediately; he was
truly my best friend that year.
That did not settle right with my pediatrician or myself and
my doctor tried to calm me down by putting what Chiari was in the simplest
terms:
Kaylee was born with an extra piece of skull. That extra
piece is causing her brain and her cerebellum to sag downward into her spine.
This is causing crowding and the spinal fluid isn’t passing smoothly which
causes a buildup of fluid in her brain and the pressure causes bad headaches.
There are many complications that can arise from having Chiari and while this
doctor said that Kay wasn’t showing any “symptoms” it just concerned me that
what she had was something else that came from the Chiari. Let’s back track for
a second here though.
Some of Kay symptoms:
·
Headaches
·
Poor muscle tone
·
Blue lines in her skin
·
Choking
·
Late physical milestones
·
Never cried
·
Soft spoken, gentle but raspy voice
Here are the symptoms that the Mayo clinic lists:
Chiari malformation type I
Headaches, often severe, are the classic symptom of Chiari
malformation. They generally occur after sudden coughing, sneezing or
straining. People with Chiari malformation type I can also experience:
·
Neck pain
·
Unsteady gait (problems with balance)
·
Poor hand coordination (fine motor skills)
·
Numbness and tingling of the hands and feet
·
Dizziness
·
Difficulty swallowing, sometimes accompanied
by gagging, choking and vomiting
·
Vision problems (blurred or double vision)
·
Speech problems, such as hoarseness
I know. It was funny to me too. It just showed me he wasn’t “listening”.
Which he couldn’t possibly be listening being so full of himself and his “I’m the
doctor here, I’m the one with the medical degree”. That was a direct quote. Oh
don’t even get me started!!! Breathe Suzanne, breathe. We didn’t see eye to
eye, we moved on.
We didn’t wait six months, she went for further testing. Because
when you are diagnosed with Chiari, that’s what you should do. Only an MRI is
going to detect it and only a full MRI of your cervical, thoracic and lumbar
spine can rule out Syringomyelia and other conditions that can arise from
having Chiari. This is where it gets tricky. I hear from a friend that happens
to have Chiari that she has these doctors on Long Island at “the Chiari
Institute” that are amazing. I immediately tell my doctor about it, if you want
pizza you don’t go to McDonalds right? He’s skeptical. He wants me to go to NYU
to his doctor, a top pediatric neurosurgeon, but I insist I want to try this
institute. It is not covered by my insurance at the time.
We pay a lot of money ($800.00) out of our pocket for our
visit. That wasn’t including all of the tests done, that was just for a
consultation with each specialist. The visit is a full day of testing and talking
and learning. That visit put us on the right path, we learned more in one day
than we had known before, we had answers that eased our minds and terrified us
all at once. Every piece of the puzzle fit. She was now diagnosed with Ehlers
Danlos syndrome type 3 hypermobility (a bones and joint disease) and Syringomyelia
(great another thing I have to research!!) but this was a biggie. This was
caused from the crowding in her brain blocking the passageway for the spinal
fluid to flow, she had a “slow drip” and it built up causing cyst-like fluid
balls (laments terms). One was huge, looked like it was a water balloon about
to burst, pushing her spine out way too far that was painful to look at on the
MRI. Every symptom she had had been from the Chiari, Syringomyelia or EDS which
these doctors absolutely linked together. Without even looking at Kaylee he
said “I bet she has a light birthmark on her belly”. Tears just filled my eyes,
she had. Just this light little blob right there on her belly but it all fit. He said that many Chiarians had it. She had a
group, they had a name. I felt on top of the world and strong, ready for the
battle ahead. They suggested surgery immediately and pleaded with us to not
considering putting it off at all. I explained we would get a second opinion
and then decide and he was teary eyed and even said he had a child of his own
and if this were his child he wouldn’t wait. It just wasn’t settling right with
me, too much info and a huge decision like this should not be made quickly.
Thank God I have the faith in God that I do. It was what led me because everything
was a big blur!!
When they explained that she would be the first four year
old they would do this surgery on, it didn’t settle with us right. When they explained
how invasive it was, “approximately a 6-8 inch long incision and a good portion
of her skull removed to make room which may require a neck brace for up to a
year” what the recovery time was “weeks in the hospital, months of therapy to
follow” the thousands and thousands of dollars not covered by our insurance was
(not that I cared about money but let’s face it, why wouldn’t I go to NYU and
see what they said first?). She would never ride a bike because she’d be too
unstable with the amount of skull they’d have to remove; she could never ride a
roller coaster or anything that could possibly juggle her brain”. This was too
unreal for me to absorb and I will never forget the ride home. We didn’t speak,
we just cried the whole hour, thinking the other didn’t notice......
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