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The Villon Family
Andres Christopher Villon (Andy) was born on August 18, 1995, six weeks premature. He
weighed 4 lbs. 3 oz. and was 17 inches long. My pregnancy had been uneventful until I
developed polyhydrosis during the 7th month. I was later admitted to the hospital with
premature labor and treated with magnesium sulfate and steroids for 3 days. The night
before I was to go home my water broke and Andy was delivered by C-section 50 minutes
later. He had fallen on the cord and cut off his own oxygen and ended up breech much to
the doctor's surprise!! (The nurses later showed my mother where the monitor button had
been put on his bottom rather than on the top of his head!) He was floppy with low apgars
and was immediately put on the ventilator. When the nurse told my family that among other
things Andy wasn't able to cry my mother knew exactly what had happened. Unfortunately
this was not the beginning of our family's history with Myotubular Myopathy.
My little brother, Eric Pardue, was born on Dec. 11, 1965. I was only 3 yrs old and barely
remember him so I'll let my mother fill this in.
(Pat writing)
Eric Christopher was born Dec. 11, 1965 almost at full term. I had gained a tremendous
amount of weight during my pregnancy and the doctor seemed concerned, but as there were no
other problems I didn't get very concerned myself. The first thing I remember is that they
whisked him off immediately to the nursery without even letting me see him. The next
morning the doctor came to the room and explained that the baby could not cry. At that
time that was the only symptom
they were aware of. When they finally brought him to me his feet were black and blue from
being thumped in at attempt to make him cry. I wanted to nurse him, but he never got much
milk, so we gave up on that within a few days. When he was about 2 days old he had the
first of what we came to know as his 'blue spells", when he would choke on the mucus
in his throat and stop breathing. The nurses would clear him with an ear syringe to get
him breathing again. The doctors were mistified as to what was going on, and finally told
me I would have to go home and leave him in the hospital until
they figured out what to do! After 3 weeks, he came home with only an ear syringe to clear
out the mucus.
The next nine months were frightening and when I think back I don't know how my husband
and I did it! Eric's crib was beside my bed and many times I woke up to see him
trying to breathe; he could not cry out, of course, so there was no way I could know when
he had trouble. He did take formula from a bottle for a while, but finally refused to
suck, and we had to gavage feed him with through a catheter attached to a glass beaker
brought from a chemistry lab my our neighbor. We learned to do CPR, and performed it many
times. By Sept. 1996 he was starting to do a little better, he could almost sit up, though
his head would fall forward after a few minutes. We knew nothing about therapy so I just
treated him like a regular baby, holding, rocking, etc. and he probably got adequate
stimulation, though back then we didn't know much about things like that!
But, just as we were starting to enjoy Eric and be a little less frightened, Eric stopped
breathing one day while being fed and died a few hours later from aspiration. An autopsy
was done, but I was never given any information as to the results. No-one ever said
anything about a muscle biopsy, abnormal muscle tissue, etc. I sure would like to see
those autopsy results today! The closest diagnosis we ever had was amytonia congenita
(congenital muscle weakness) which of course
didn't mean a thing! Because of my experience, I agonized when Amy learned she was
carrying a baby boy, but kept telling myself it couldn't happen again. Of course, we had
no idea that Eric's condition was a genetic illness. In 1995 we found out differently!
(Back to Amy)
Because of Eric's undiagnosed condition my obstetrician sent me to a Geneticist, Dr.
Curtis Rogers, early in my pregnancy. Since so little information was available about
Eric, Dr. Rogers was only able to guess at what could have been wrong with him and it
didn't seem likely that it would affect my child. The next time we saw Dr. Rogers was at
5:00 a.m. the day that Andy was born. This time his guess was correct - XLMTM which was
confirmed a week later by muscle biopsy. We were told to expect the worst - the only other
child with MTM the staff had seen in the NICU died at the age
of 2 1/2 weeks so optimism was not rampant! The only literature we could find was genetic
in nature. Andy however surprised us all. At 2 weeks he was taken off the ventilator and
things have gone up hill ever since. He was on C-pap for about 1 1/2 weeks after going off
the vent. He hated that tube!! The day they took him off his whole personality changed for
the better. The next step was to see if he could suck and swallow which he did with little
difficulty. I had been pumping my milk to feed him through the NG tube, so it was a great
delight to be able to breast feed him. (We kept this up for about 7 months but Andy's suck
was weak and his weight gain was slow. I had to supplement and although I tried all the
tricks of breastfeeding he finally lost interest. But I feel it was worth it to give him
the best start possible with breast milk.)
Andy left the NICU when he was 6 weeks old. We went home with just an apnea monitor due to
his prematurity. Actually he didn't have problems with apnea or bradycardia. Since it was
winter we kept him very protected and seldom took him out. He got his first cold at 6
months but got over it easily. He didn't have any serious illnesses until he was nearly 3
yrs. old when he had pneumonia. We were able to treat it at home with abuterol treatments
and chest PT. However in Dec. 1998 he was very ill with RSV/pneumonia and was hospitalized
for 3 days. The doctors were just sure that he would end up in the ICU and possibly need
to be put on the vent. As usual Andy bounced back
quicker than anyone expected and went home in 3 days, this time with a suction machine.
Andy's motor development has been delayed but steady. He has received physical therapy
since he was 4 days old, first in the NICU and then at home. He was able to sit
unassisted at 9 months and rolled over at 10 months. We were thrilled whed he began
walking at 18 months. At 3 1/2 he walks with much confidence and seldom falls unless
tripped or bumped. He can't run or jump. He gets up off the floor using the Gower maneuver
or holding furniture. He is still very unsure of himself around other children since they
tend to be "rough and tumble." He knows his limits and prefers to socialize with
older children and adults.
Andy is currently attending a preschool for children with special needs. He goes 3 days
per week and receives PT, OT and speech therapy while there. It is a wonderful program
that we are very thankful to have. They have excellent equipment for the children to
"play" on during therapy. Andy's
favorite is an upper extremity tricycle which he in now able to pedal all through the
halls. When he started he could barely make it go!! He has tested within normal range in
cognitive tests. As Dr. Rogers told us at the beginning: "The brain is not a
muscle."
Before Andy was born people told us that having a baby would change our lives. It has in
ways we could never imagine. In addition to the challenges of raising a child with special
needs my husband has had to adjust to living in a different country and learning a new
language. He is from Ecuador, South America and I had lived there for 6 years before Andy
was born. We are so glad that we were in the US when he was born!! For Andy's sake we have
stayed here but we have been able to return to our home in Ecuador yearly so that Andy can
get to know his other family. (So far his health has been excellent while traveling!) We
are very thankful to all of the doctors and therapists who have worked with Andy and for
our supportive friends. We especially thank my parents for opening their home to us and
sharing the challenge and joy of raising a very special little boy!!
Amy Villon, Greenville, SC
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