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When Stacey was 18 months old, she went from being
nursed to being bottle fed. It was around this same time that we
began to notice some unusual things about her. She seemed to trip
and fall a lot - not that 18 month old children don't - she just
seemed to be "more clumsy" than others her age. She had "Jell-O"
for arms and legs - no real muscle tone to speak of. She had very
low physical endurance. She also suffered from what we described
as "full body muscle tremors." She would simply stop what she was
doing, sit down, stare off "into space", and her arms and legs would
stiffen and tremble.
The first neurologist we visited "observed" her for
no more than 20 minutes and diagnosed her as a "migraine" baby.
She said that what we had seen was a result of dizzy spells brought
on by the headaches. The basis for her diagnosis was that Stacey
had a "gray pallor" and ate a lot of bananas - food known to induce
headaches.
We were young and inexperienced parents, so we initially
went along with this. Stacey was placed on Phenobarbital - a controlled
substance - with no blood or urine tests or any further investigation
into the diagnosis. This went on for about 9 months before we were
able to convince the doctor to do further testing.
When the blood and urine tests for finally done, it
was discovered that Stacey was severely carnitine deficient. The
doctor told us, "we don't know what Stacey's disorder is, in fact
we may never know. Carnitine deficiency is almost always a secondary
problem and we won't ever know the primary problem." She went on
to say that we could have Stacey admitted for a muscle biopsy, but
that it would be traumatic for Stacey, and there really wasn't any
reason to put her through it sense we couldn't "solve the problem"
anyhow. Further, we would be "bad parents" for inflicting pain on
our daughter that wasn't necessary.
Needless to say, we were devastated. What could have
gone wrong with our little angel? But even more upsetting - why
were we being told by a doctor not proceed any further?? Surely
there must be something we could do. So we went back to our pediatrician
and were referred to a second neurologist and an enzymologist who
specialized in carnitine deficiency, both at Children's Hospital
Medical Center in Cincinnati.
One of the first things we learned was that Phenobarbital
is a known carnitine depletion agent in the body. Without having
"before" blood and urine levels, we had no way of knowing how low
her carnitine levels were to begin with. We immediately began carnitine
replacement therapy. She was pulled off of the Phenobarbital and
started on Tegratol. The Tegratol was used because the neurologist
felt that her "full body muscle tremors" were in fact some form
of seizure disorder. Stacey was 2 at this time.
Her carnitine levels were monitored very closely -
every 3 months she had blood and urine samples evaluated. Another
odd thing began to happen. The carnitine levels rose as expected,
but as the dosage of Tegratol increased; her body began to reject
it. In a "normal" situation, one should be able to increase the
Tegratol from the initial dosage up to the "therapeutic" level.
Stacey's body would not allow this. The Tegratol also had the side
affect of making her groggy and lethargic - the more we increased
the medication levels, the more tired and depressed she became.
She went in for EEG's - 15 minute ones while she was
awake. They tried to induce a seizure - strobe lights, etc. No seizures
and no "abnormal" brain activity were detected. Next they tried
a "sleeping" EEG. We noticed that she most often had "shakies",
Stacey's term for them, while she was sleeping, or immediately after
being awakened. Again, the EEG was unable to prove anything. But
the episodes continued at home.
On a "good" night, Stacey might have 2-3 shakies.
On a "bad" night, she might have as many as 15-20. Her worst night
was almost 40. It seemed that when things happened that altered
her metabolism, things would get worse. For example, if she was
sick and running a fever, she would have more shakies. If she fasted,
or had too much fat in her diet, she would have more. It was incredibly
hard to get her to eat and/or drink when she was sick. She would
end up in the ER just about every time she got sick for her glucose
"drink in her hand."
In the midst of the EEG's, we decided to have a muscle
biopsy done. Stacey was admitted to the hospital for the procedure.
It was done outpatient, and despite the comments of the first neurologist,
she did well and is not scarred for life! In fact - she looks at
her scar on her leg today and simply says, "That's where the doctors
took my muscles out."
The results, fibroblasts, of her biopsy were sent
to Duke University, Baylor University, Washington University in
St. Louis, and some place in Lyons, France. This process took a
long time to complete. In fact, I do not know if it will ever really
be completed. The results again - inconclusive. She was tested for
MCAD, LCAD, SCAD, LCHAD. Each time they thought they had it figured
out, they would run "one more test" to confirm their findings and
the test would not yield the "expected results". They have now run
out of "known disorders" to test for. It may be that she actually
has a "primary" carnitine deficiency. But no one has stepped up
and said that officially yet.
Back to the EEGs... When the first 2 EEGs failed to
show anything, Stacey was admitted to the hospital for a "telemetry"
EEG. She was "wired" to the machine for about 72 hours, in order
to monitor her both in waking and sleeping hours, hoping to catch
a seizure on the EEG and videotape.
While Stacey did have a couple seizures while in the
hospital, they results were determined to be "inconclusive". There
wasn't a specific location in her brain that could readily be identified
as the "source" of the seizure. In fact, the video showed that the
seizure had begun prior to the EEG recording any associated brain
activity.
Since the Tegratol was not controlling her seizures,
they switched her to Neurontin. This did not have the groggy and
lethargic side affects, but replaced those with causing Stacey to
gain weight. It altered her metabolism in such a way that our daughter,
who had consistently been on the low side of weight for her height,
gained weight at an unhealthy pace. Soon she was able to wear her
sister's clothes. Her sister is more than 2 years older! This drug
also failed to effectively control her seizures.
So... we went back to the telemetry EEG unit at Children's
Hospital. More seizures were caught on tape. Again - there wasn't
a decisive amount of brain activity to say anything new. I asked
if these could be metabolically induced seizures. I was told that
there isn't any way to test for that, so the answer is NO.
We changed medication again! This time to Lamictal,
another controlled substance. This one made Stacey hyper! No more
groggy and lethargic. No more weight gain. But we now had a child
that became very active! But we still didn't have effective seizure
control. Several months into Lamictal, we were alerted by a news
program that Lamictal should never be given to children!
Stacey is now almost 8 (her birthday is June 26).
She is classified by her doctors as "beyond research". She is on
a combination of Tegratol and Neurontin. She is at the lowest level
of medication in her life. While we were hung-up looking for the
cause of the seizures, we were also still monitoring carnitine levels.
Over time, she improved and her levels reached back into the "normal"
ranges. Her muscle tone has improved greatly, as well as her endurance
in physical activity.
Today, we continue to monitor her intake of fat, and
provide her with her medication. We also try and balance her medications
with nutritional supplementation. This works well when she will
take it. But she is still a child, and as such, there are times
when she gets tired of all these things. The medication is easy
- swallow a couple pills and be done. The nutritional supplementation
can slide - but for now the meds can not.
To look at her, she is a happy healthy kid. She loves
life more than anyone I've ever met. She is so happy doing the simplest
of things - walking in the woods, riding her bike, drawing with
sidewalk chalk, rollerblading on the driveway.
As her parents, we know and live "the rest of the
story". We are thankful for her pediatrician - who has literally
"walked through the fire" with us. He has been willing to say, "I
don't know all the answers." He has worked with us with our "hair-brained"
ideas of what might work. And he has "gone to bat" for us with other
doctors - explaining that as her parents, we are more knowledgeable
about her situation than they are, and that they should take the
time to listen to us.
Stacey is truly a treasure from to us from God. Our
lives have been blessed with her presence and her love. No disorder
is able to take that away from us. The biggest battle is knowing.
Once we know, we can adapt. We have done that in our family, and
we try to help others do the same. If anyone has any questions for
us, please do not hesitate to get in touch with us. Because of this
support group, we can reach out to others, and others can reach
out to us. We really are All In This Together.
Lisa and Jeff
lisa_d_schmidt@yahoo.com
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