This page was updated in April of 2005. If you have visited before and would simply like to see how Paige is doing now, please scroll down to the "update" icon and read about how well she is growing.
In addition to Down Syndrome, Paige was also born with VACTERL Association. The two are not usually connected, Paige just got 'lucky' enough to be born with
both.
The following is a factual account of Paige's medical problems. I've added a journal of her first month of life, recounting the emotions and triumps we endured.
VACTERL is a group
of anomalies that occur at around the same time in fetal development, sometime
around 30-40 days gestation.
Some of the characteristics
of Down Syndrome and VACTERL Association are quite similar, so with Paige,
its hard to pinpoint exactly which syndrome caused which problem.
And it really doesn't matter--she has both, so the need to distinguish
is not relevant.
Each letter of VACTERL
Association stands for a particular defect, and if a child has 3 or more
associations, he will be diagnosed with it.
Paige was affected
in the following ways:
V - (vertebrae)
-- She has an extra rib on each side
A - (anal) -- No
anomalies
C - (cardiac) --
She had a small ASD and a PDA, which are two holes in her heart.
The ASD closed by itself. The PDA remains, but poses no problems
at all for her.
T - (trachea)
-- see below
E - (esophageal)
-- see below
R - (renal) --
She had no kidney problems at all
L - (limb deformities)
-- Paige was born with an extra thumb on her right hand. Her hand was perfectly
formed except for that, and it was removed by day surgery. Her hand looks
completely normal now.
The most serious
of her defects from VACTERL Association is called Esophageal Atresia/Tracheo
Esophageal Fistula (EA/TEF for short). To read all about EA/TEF, click
here.
We knew that there
was some kind of digestive problems with Paige, because I retained almost
all of the amniotic fluid that my body produced. I was HUGE.
Even though I gained only 13 lbs during my pregnancy, my OB was worried
about my uterus bursting during the last days I carried Paige.
Paige was born by
c-section, and the pressure of the amniotic fluid was so great that I literally
spouted like a whale as soon as they cut into my uterus. There was
amnio fluid everywhere. Paige never processed any of it through her
body.
Basically, EA/TEF
means that her esophagus was not attached from her throat to her stomach
as it should be (the EA part). Both ends of Paige's esophagus were connected
directly to her trachea, instead of to one another (the TEF part).
In Paige's case,
she had "Type D" EA/TEF--only about .7% of all children born with this
defect have this type. It is the rarest form of this defect.
Of course, lol, Paige would never do anything just because the rest of
the crowd does...
She had surgery
when she was 3 days old called anastomosis, which is the joining of the
two ends of her esophagus. Because they did not quite reach the surgeon
had to do a circular myotomy which is like making rings in her esophagus
and stretching it so that he could join them.
Her surgery was
tremendously successful. Her esophagus was able to be attached and
stayed that way, with no leaking. A good majority of children who
have EA/TEF have to wait for their esophagus' to grow, or have leaking
and other tracheal problems that make connection impossible at birth.
I remember vividly
when the surgeon walked into the room to talk about her surgery with me.
He came over to me, shook my hand, and said, "My name is Dr. Bass, and
you and I are going to become best friends in the next 5 or 6 years."
All most all doctors
who perform this surgery do a gastrostomy at the same time. This is the
placing of a tube (g-tube) through baby's belly so that feeding can be
done that way.
Our surgeon is one
of the few who take a very conservative approach to G-tubes, and so far,
Paige has not required one at all. She had a nasal tube surgically
implanted for feeding, but pulled it out two days after surgery.
It was quite a scare, and we thought we were going to have to go back in
and operate again.
But Paige was fed
through TPN feeds, getting her nutrients through I.V's.
She has a terrible
time with I.V.'s, they are impossible to get in, and they blow almost immediately
after they are inserted. I remember holding Paige for 2.5 hours one
day, while nurses tried over and over again to get a line in her scalp.
Today, she has a
lot of scaring on her wrists, ankles, inside her elbows, and her head from
so many attempts at I.V's. When she requires them now, we have to
request an I.V. Team to come and do it for us. Its always a struggle.
Thankfully, she
was feeding orally about 3 weeks after birth, and came home at 28 days,
completely feeding on breastmilk.
She had lots of
swallow tests and associated reflux tests after that.
When she was about
9 months old, she started experiencing feeding problems. She wasn't able
to digest anything other than pureed foods and formula, and she had repeated,
continuous bouts of unexplained pneumonia.
At 14 months, a
swallow test showed that her esophagus had strictured to an opening about
half the size of a straw at the bottom. This stricturing also caused esophagitis
(inflammation of the esophagus), and aspiration pneumonia.
This was caused
by severe reflux (where stomach fluids and acids come up and down like
baby heartburn).
Paige's reflux was
'silent'--in that she never vomited because her esophagus was so severely
closed; it was impossible for her to. And she exhibited no pain indicators.
The surgeon's theory
was that the pain was so constant, and so intense, that Paige did not realize
that she could be 'pain free.' It was simply how she lived.
So, our next treatment
was another anastomosis, this time to the bottom of her esophagus, where
a small part that was badly damaged was removed and reconnected, and then
she had a Nissen Fundoplication, which is basically taking her stomach
and wrapping it up around her esophagus, in hopes that stomach acids will
not back up and cause reflux.
She did pretty well
through her surgery, although coming out of anesthesia took a long time.
After that, Paige
had to have her esophagus dialated twice more in the next three weeks to
keep it open.
The surgery seemed
to successfully conquer her pneumonia and control her reflux much better,
but it caused all kinds of eating difficulties.
We struggled all
summer long trying to get Paige to eat enough to survive. Her weight
plummeted from around 21 lbs to 16, and it took almost a full year to get back to her starting weight of 21 lbs.
Its very hard to
describe to someone who has never had a child with feeding difficulties
what it means when you say your child simply will not eat.
I can't begin to
tell you how many suggestions I received on what to feed her. Even
seeing dieticians, who would give me a million ways to increase the calories
in her food, could not understand. Its so frustrating to not be heard to
try and say, 'it doesn't matter how many calories are in that bowl, she
will NOT eat it.'
Paige simply refused
food. Would not open her mouth for it. And when she did, she
would spit it out. Eating was a painful, frustrating experience for her.
She basically survived
for 5 months after her surgery on Pediasure. And thank God for that
For her first two or three years of life, got a great deal of her calories through Pediasure, though her eating progressed pretty well albeit very slowly.
She have
cyclical reflux...it will be great for a few weeks, then we will have a
bout with it. When that happens, we spend a lot of time sleeping with Paige
sitting up, it helps keep things from flowing backward for her.
She takes Prolupsid
and Zantac for motility and acid control, and when her reflux flares up,
she has albuterol and flow vent inhalers that she uses. But she has
been without them for months now.
As far as EA/TEF
cases go, Paige has done incredibly well. She will never have a 'normal'
esophagus, but hopefully, with proper attention, her esophagus will last
a lifetime.
Paige's esophagus strictured again in May, and she had to have surgical dilatation of it. She did really well, spending only two days in the hospital, and *thankfully* this time, she went back to eating right away.
October, 2000--Paige has been displaying signs of gastric discomfort once again--this time quite differently than when she normally strictures.
She will be fine, and then within a couple of hours, she will become quite sick, wanting to be held, whimpering, regressing in her skills.
Paige is admitted to hospital for another dilation. The stricturing is quite small, but we are hopeful that this was the cause of her discomfort.
December, 2000--For the third time in as many months, Paige had a very bad bout of complete refusal to eat or drink anything, she lost skills, refused to sit up, wouldn't play, wanted to be held constantly, and would whimper for hours at a time. This episode happened quickly--within a few hours from being a happy, active little girl.
We had to admit her to CHEO, where our surgeon went in and looked at her esophagus and stomach to see what the problem was. After surgery, he says that there is nothing structurally he can do for her--she has lots of scarring, lots of 'sore spots' on her stomach, but no strictures.
During surgery, they place an i.v. in order to feed her. The i.v. blows before she gets out of recovery.
We are forced to place an ng tube down Paige's nose, in order to give her some nutrition. Our pediatrician recommends a g-tube, a tube placed directly into her stomach, where we can feed her as needed.
The surgeon disagrees, says that there is 'too much going on' in Paige's stomach, and that she is not a good candidate for g-tube placement.
We are sent home on the ng tube, basically being told that there was nothing more that could be done for Paige, and that she would *hopefully* start eating on her own soon.
Our pediatrician enrolls us in a Motility study at another hospital to see if we can find what is causing the problems for Paige.
In February, 2001, during the initial exam for the Motility study, the GI thinks she feels a blockage in Paige's intestines and sends us for an abdominal ultrasound.
It turns out that there is not a blockage, however Paige's gallbladder is found to be more than twice its normal size, filled with gallstones.
Our doctors are reeling, its very unusual that a child of three have such bad gallstones. They are all surprised and shocked, and sorry they missed it.
Paige underwent surgery to remove her gallbladder in late February, just before her 4th birthday. The surgery went really, really well, and the surgeon was able to remove it laprascopically--something he was not sure he could do.
We are very hopeful that we will see some good results from this surgery, and that Paige will start eating again, gaining weight, and thriving.
April 2005: Although Paige is still itty bitty for her age, at just over 40 lbs, the esophageal problems that so plagued her earlier life seem to be behind us. Since having her gallbladder out in 2001, Paige has had no complications due to her EA/TEF. She has not required any further dilatations or other related surgery. She is completely off all medications for reflux, and seems to be "reflux free."
We continue to be very careful about what Paige is eating, as we are ever watchful of those dangerous chokes that so often happen to kids with EA/TEF. Paige feeds herself with some assistance, but her food is always carefully prepared, and cut into tiny pieces. She still drinks pediasure to keep her caloric and nutritional needs met.
She has become a better eater, although she never asks for food. Perhaps she is just more tolerant of the fact that she's just gotta eat!
Recently, Paige was diagnosed with hip dysplasia, probably a condition as a result of both VATERL Association and the loose joints the come with having Down Syndrome. Her hips are very loose, and slip in and out of place constantly. Paige will require surgery, probably in the next year or so, to try and fix this problem.
She will probably be casted for about 6-8 weeks, and will have to learn to walk all over again. There is some concern about her ability to understand the things she will need to do for physiotherapy, but are hopeful that she will be more driven to learn to walk this time, as she knows how much fun it is!
A
Special Thank You....
To
Dr. Juan Bass, Paige's surgeon. Dr. Bass has always spent lots of time
with us when Paige had surgery. He always explained procedures thoroughly,
answered endless "mommy" questions, and took such great care of Paige.
And
to all the nurses in the NICU, who made Paige a person, who always remembered
to call her by name, to rock her, to bathe her, and dress her in her finest.
Thank
you for giving us our family...
