Impact Statement from Carrie Ouellette - Life
Without Comprehensive Newborn Screening
Our son Andrew Ouellette was born on March 5, 2001 six weeks premature.
As most, we were two extremely happy and proud parents. Little did
we know, our little Andrew was suffering from a very serious, but
silent disease.
In his first few months, Andrew experienced below average and very
little weight gain. We thought we were the luckiest parents in the
world to have such a good baby. We literally had to wake him for most
of his feeds. Andrew was such a sleepy baby. He had some developmental
delay when we realized he could not hold his head up straight when
he was three months old. At this point, he was vomiting at least five
times daily, especially after his formula. This was not just a baby
spitting up, the vomit covered him from head to toe. Due to Andrew
being born prematurely, we were already seeing our family doctor every
six weeks. My husband and I would continue to bring up these symptoms
at every visit until he was four months old and voice them as concerns.
These symptoms were routinely excused due to his premature birth and
that a lot of babies before the age of one were "pukey"
babies. We took the doctor's advice and changed Andrew's formula just
in case he was intolerant to milk based formulas.
During Andrew's fourth month of life, we noticed he was slowly getting
weaker. He was sleeping a lot and his vomiting was progressing. The
only thing he could keep down was his morning and nightly feeding
of Pablum mixed with water. Andrew eventually got to the point where
he was vomiting after every feed. Then we ended up feeding him with
a small syringe because he was too weak to suck on a bottle. We had
a referral to see a pediatrician because his family doctor had noticed
his low muscle tone. His pediatrician had told us that he believed
that Andrew was categorized as failure to thrive. Andrew was to go
to the Hospital for Sick Children for testing for cystic fibrosis.
This appointment, which included an ultrasound, a sweat test and a
blood test was a mere two weeks away. These would be the longest two
weeks of our little family's lives. Andrew was slowly slipping away
from us and nobody was doing anything to stop him.
Just days before the scheduled tests, my husband and I felt there
was no choice but to bring Andrew to our local hospital because he
wasn't eating anything. We knew he was becoming dehydrated and that
he needed medical attention from a pediatrician who had probably seen
children in the same state Andrew was in. We were confident they would
be able to fix our son. Sadly, this was not the case. They simply
admitted him, hooked him up with an IV (which in fact was the only
thing that saved him) and left him in a private room for three days
because they didn't have a clue what was wrong with our beautiful
baby. They had noticed through X-rays that his liver was enlarged,
but offered no explanation as to why. We were told that Andrew had
a virus and that it would have to work its way through our baby's
tiny, cold, limp body.
Finally, the day had come to go to Sick Kids for the testing previously
scheduled. Andrew was not given any feeds through the night because
he had to fast for his ultrasound the next morning. I thought we would
be brought down by ambulance because Andrew was not getting better
and he was still hooked up to an IV. Instead, I was told that my husband
and I could take Andrew out on a day pass, travel in our own vehicle,
and they would leave the catheter from the IV in his bruised little
hand so he could be hooked back up when we returned to the hospital.
We arrived at the Hospital for Sick Children in Toronto and registered
Andrew for his scheduled tests. He slept through most of the testing,
which took up most of the morning and never complained except for
when he had to be undressed for the ultrasound. When it came time
to have his blood drawn, Andrew didn't even flinch when the sharp
needle went into his tiny wrist. This immediately set off a red flag
to the nurse who was drawing the blood so she told us that she was
going to take us over to Emergency, just to make sure Andrew was okay.
Within ten minutes, Andrew was intubated and barely clinging to life.
Bloodwork confirmed hypoglycemia. The next hours were a total blur.
We spent every moment with our son in the ICU. We took turns sleeping,
sometimes for only minutes at a time.
Andrew needed a line put in to his main artery in his groin so that
the doctors could analyze his blood work every few hours. Andrew still
has scars to this day. This was the first of many painful procedures
Andrew had to endure. He then had a spinal tap to rule out meningitis.
My husband and I started to fear the worst. At the same time, the
anger and frustration was building up in both of us. Why didn't anybody
know what was wrong with our little boy?
Finally, an answer came one week after our terrifying ordeal in the
ER. Andrew had LCHAD deficiency. A genetic metabolic disorder that
does not allow your body to break down long-chain fats to use as a
main energy source. It is an extremely serious disease with very serious
consequences, but is very much manageable by a proper diet. We must
feed Andrew other sources of energy such as, foods with a high carbohydrate
content and a high calorie content, however, very low in fat. We must
also ensure that Andrew does not fast for any period of time greater
than six hours. This means that he must always have usable sources
of energy provided for him, even during the night.
All in all, Andrew spent six weeks at Sick Kids and slowly turned
around for the better as the treatment progressed. He remained on
a low flow of oxygen due to his low muscle tone for a period of two
months after we were discharged. Also, due to the fact that he could
not fast, Andrew required a G-tube to help sustain him with supplemental
feedings. He was still too weak to suck sufficiently out of a bottle.
He was in excruciating pain after this minor surgery. For the next
two years, he wouldn't let anyone touch the left side of his body
because he was that sensitive. To make matters worse, my husband and
I have to change his tube every four months. It pained us to see our
son in so much agony, however, we had to come to terms with this new
lifestyle.
Andrew has suffered significant developmental delay due to his trauma
and has had to overcome many obstacles most healthy children do not.
He has had to endure painful therapy to become the active little boy
he is today.
Today Andrew is doing very well, considering everything he has been
through and we are extremely thankful for that. Our son is unlucky
for what he has to live with, however, he is very lucky this disease
did not kill him. Lucky we were at Sick Kids that day and lucky the
metabolic team diagnosed him as promptly as they could.
A baby's life should not be left up to luck. Your baby's, your grandchild's
or nephew's life does not need to be left up to luck. With expanded
newborn screening in Ontario, our children can be tested for LCHAD
and 28 other metabolic diseases. These silent killers can be found
before another baby suffers severe trauma, neurological impairments, or
worse, death.
We learn from our past and our experiences make us wiser. I am asking
all of the MPP's in the Legislature to learn from our past experiences.
Expand Ontario's newborn screening program to include conditions such
as LCHAD.
Written by Allan and Carrie Ouellette of Aurora, Ontario, on May
29, 2005
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