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My husband and I have been blessed with three wonderful
boys. My oldest child, Matthew, was very healthy and met all developmental
milestones early. My middle child, Kyle has been diagnosed with
SCAD. Kyle was born November 22, 1993 by cesarean section at
38 weeks gestation due to my gestational diabetes. Kyle was 7lb
6 oz and appeared to be a healthy newborn. He was a poor eater in
the hospital but the nursing staff and doctors just felt that he
was off to a slow start. From the time we brought him home from
the hospital, Kyle was very fussy. He cried inconsolably several
times a day.
Within 3-4 weeks of life, he began the "projectile
vomiting." It seemed that it would come up by the bucket full. Soon
I learned that Kyle could not be laid flat on the floor or in bed
because it would cause him to cry and vomit. His Pediatrician gave
him medication for Reflux. Kyle spent the first year of his life
sleeping half the night in a car seat and the other half of the
night in an infant swing. Sometimes, he would cry all through the
night. It was obvious that he was having pain because he would
pull his legs as close to his chest as he could. The Pediatrician
wasn't concerned. In fact, she told me that Kyle was a "high needs
child" and that I should wait 4 years before I had another baby.
Kyle had his first seizure at 9 months of age. I walked
in the kitchen to find him blue and limp on my floor. The Pediatrician
told me that it was breath holding. It was apparent that Kyle was
lagging on his developmental milestones. When he was 12 months old,
his pediatrician referred us to an early childhood intervention
program. Kyle did not walk until 18 months old. His speech was seriously
delayed. Kyle began receiving speech therapy at 2 years of age and
continues to receive this service. The "breath holding" continued
and worsened. He was having "episodes" several times a week. It
got to the point where he would turn blue, fall to the ground, make
a funny noise while having a wide-open dead stare. Finally, when
Kyle was 2 1/2 years of age, a new Pediatrician referred us to a
neurologist. As we suspected, the diagnosis was seizure disorder.
The EEG showed definite seizure activity. Kyle was immediately
put on Depakote, which did control the seizures.
Doctors told us that the developmental delays,
hypotonia and seizures were not in any way related to the other.
He was diagnosed as having idiopathic developmental delay and seizure
disorder. We continued to ask questions and press physicians.
It didn't add up that his problems were not related and we were
not going to accept it as an answer. After all, there was not
a history of developmental delay or seizure disorder in either of
our families and how could a child have so many problems, none of
which were related.
We noticed that Kyle fatigued very easily. He was
our "couch potato." When Kyle was 4, we went to a developmental
physician for a second opinion. By this time Kyle had developed
a very noticeable tremor. As a result of seeking the second opinion,
Kyle's neurologist told us about metabolic testing. Immediately,
we said we wanted it. The neurologist told us that he was certain
that Kyle did not have a metabolic disorder, as they are so rare
and that the testing would be very expensive. We went ahead with
the testing and one month later, on my birthday, the neurologist
called to say the tests indeed indicated a metabolic problem.
Kyle's alanine level was very elevated. As a result,
the doctors believed that he had a mitrochondrial disorder possibly
involving the respiratory chain. When we finally found out that
Kyle had a metabolic problem, we were 3 months pregnant with our
third son so we were also very worried about whether or not he would
be affected. Kyle had an open muscle biopsy and skin biopsy at Oregon
Health Sciences University. Approximately one year later, we
found out the diagnosis ~ SCAD. Kyle's skin cells had been sent
to Denmark, Amsterdam and Ontario and the diagnosis was confirmed.
Normal childhood illness such as colds and flu would
last for weeks and leave Kyle with no energy. His tremors were more
noticeable, and we would see an increase in seizure activity. School
would report during these times that Kyle couldn't function at school.
Kyle has always suffered from stomach problems. He
was weaned off his reflux medicine when he was a year old. We thought
the problem had resolved. Last summer at age 6 we had a pH probe
done (insert probe down nose to tip of stomach) and found out that
Kyle continued to suffer from severe gastrointestinal reflux. Because
he was eating solids, which were heavier, he wasn't throwing up
like he did as a baby. Kyle had a Nissen procedure done and a
gastrostomy tube placed in August of 2000.
Out of concern for Kyle's declining health, I looked
for other options. I found Dr. Roe's study at Baylor University.
Kyle began participating on my birthday in August of 2000. Upon
admission, Dr. Roe found Kyle's liver to be enlarged, his muscles
weak, his eye movement abnormal and his body fat percentage to be
abnormally high. Since initiation of the treatment, we have seen
an increase in Kyle's energy, and he is better able to fight infection.
Kyle continues to suffer developmental delays. He is in regular
education but receives special education services to help with academic
tasks and he receives speech, occupational and physical therapy.
Kyle is learning to read and enjoys playing with his friends. Kyle
continues to suffer from occasional seizures, tremor, hypotonia
and stomach pain.
I believe with all my heart that if Kyle's
disorder were detected earlier, through expanded NBS, Kyle would
not have the severity of the symptoms that he has now. I am a strong
advocate of NBS. In fact, the hospital in the town in which we live
has agreed to pay for every baby born in that hospital (at no charge
to the family) during the next year, to receive newborn screening,
to be conducted by Baylor. This is a step in the right direction.
I know we are truly blessed when I say that my other two children
are without symptoms of the disorder. Because the phenotypes for
SCAD are not known, we are not able to determine if the other two
children are carriers or unaffected. Hopefully in the future we
will have that valuable information.
Michelle Miller
jeffreymiller@aol.com
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