Samuel's Page
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This is my story about my
beautiful son Samuel, born 10-19-2004, who has Mowat-Wilson Syndrome.
My pregnancy with Sam was the easiest pregnancy that I had out of my three
children (Sam has a sister, Heather who is 12 years older than he is and a
brother, Austin who is 4 and a half years older) hardly any sickness, no signs
of probable miscarriage, no severe headaches and so on. We went in to have an
ultrasound at 22 weeks pregnant, to check Sam’s feet (our other son had club
feet) and his overall health, I remember before that appointment I kept praying
that his feet were ok, at that point that was the hardest thing I had to watch
one of my children go through. We were very happy when we heard they looked
great but knew something was being looked at too long. At the end of that
appointment we were told our son had a VSD, borderline nuchal thickening and
marked right pelviectasis (enlarged kidney) these were some soft markers for
Down syndrome. We started having regular fetal echos and regular ultrasounds
and always walked away hearing even worse news every time. We decided not to
have an amnio; we felt it was not worth the risk. As we got closer to delivery
we had to change plans from a birth center (comfortable, very little medical
intrusions friends and family close by) to a very closely watched extremely
medically involved delivery thinking we probably would not even get to hold our
son when he was born. Delivery day came with just under 12 hours of induced
labor (fast for me) and we were scared when he was born. Sam was extremely blue
and would not cry or breathe for a few and the NICU team had to work with him
aggressively. They finally got our Sam to cry and let me hold him for just a
moment (thanks to his dad, he felt it was important that we get a sec) before
they took him in an incubator to the NICU. He was the biggest baby there at 8lbs
13ozs.
The days following Sam’s birth
were so intense, there was Dr. after Dr., people I had never met telling me
horrible things. Sam went from the NICU to the PICU then was able to come home
when he was 9 days old. At that point we knew our son did not have Downs nor did
he have the hydrocephalus they suspected. We also knew Sam had a muscular VSD,
pulmonary valvular stenosis, pulmonary artery sling, complete agenesis of the
corpus callosum, he did not appear to be able to see, slightly enlarged right
kidney with a right renal collecting system, a very pronounced pectus excavatum,
a large hemangioma on his sack as well as undescended testes, and finally low
muscle tone and strength. I was so thankful for the wonderful nurses that gave
us comfort and helped us so much, and for the most part some of the Drs. knew
they were giving us bad news and were very kind about it. For some though it
seemed we just had an interesting baby. I have learned it is not always good to
be interesting, especially when it comes to Drs.
In November we had an eye Drs. appt and had to once again try to accept that our
son could not see, and had septo-optic dysplasia. That same night at home Sam
had his first episode of fighting to try and breathe and unfortunately his
sister was the one holding him when it happened. I don’t think she will ever
forget it. We rushed to the ER where unfortunately we had our first experience
with Drs. that had no clue about our son and thought we were over reactive
nervous parents and at least had put him on a monitor and oxygen. Until I stood
in front of him and called Sam’s cardiologist on call and told him what was
happening. He then asked me to put the ER Dr. on the phone and was promptly
told what was up and that he needed to transfer Sam to Seattle by an ambulance
that is capable of handling the issues at hand. We did not know at that time
that there were different types of ambulances. It was a scary ride because Sam
kept having moments that his airway suddenly seemed to get cut off. It was so
distressing watching him fight for air. Over the next couple days in the PICU we
learned Sam would need to have surgery to repair his sling before it did
permanent damage to his airway or else we would need to do reconstructive
surgery on that as well. Surgery was set for less than a month later and we were
able to go home with a sat monitor and oxygen and a prescription of caffeine.
Surgery day came and we checked in, about 15 minutes or so after they took him
from us we got a page to check in at the surgery waiting desk, we were met by a
child life specialist and told they decided not to do the surgery that day and
she took us to the PICU to wait for the surgeon. We knew something went wrong.
Finally we saw the team go by with our son unconscious with a lot of monitors
and Drs. watching everything. The surgeon came in and told us that Sam had gone
into cardiac arrest immediately upon being sedated, that they had to perform CPR
for approx. 2 min. and we were now waiting to find out if there was any brain
damage. Fortunately there were no signs of damage. The surgery was moved to
another hospital that had a piece of equipment that they thought would be
necessary if we had the same thing happen. This time though surgery took a long
time, everything went well, thank you to God and wonderful Drs., and we were
able to take him home three days later.
Sam finally started to put on weight and he did not have to work so hard at
eating. Due to Sam’s other heart problems most colds sent him back to the PICU
with either respiratory distress or dehydration, other than that things were
stable for a bit. We had already been to see the geneticist and knew they felt
Sam had Mowat-Wilson Syndrome but they also felt he fit in to other syndromes
somewhat. We sent off blood samples and everything came back negative. It was
not until three tests and three years later, 12-2007, that we received a
positive result for MWS using MPLA analysis that identified a deletion in the
ZEB2 gene. He also has microcephaly, development delay and some of the facial
and physical features common to MWS.
Sam had surgery for his testicles 03-06 and cardiac catheterization with
pulmonic valve balloon dilation in the spring of 06, I believe that was his
second one, had to remove tonsils in 11-06 and in 01-07 he had VSD repair and
also repair of his pulmonary valve using a donor patch. He had some difficulty
after that surgery and had to remain on a breathing tube and intubated for just
over a week, as things tried to stabilize. Once again though he pulled through
after a few scares and two weeks later we got to go home. Recently Sam had
casting done of his left ankle and will eventually have to have surgery on that
but for now he continues to wear braces and does just fine.
Sam has frequent sudden bloody noses and it is scary when he has them while
sleeping, we did not think it was possible to bleed that much. Sam started
having seizures just before the age of two, some have been really bad. Up until
the last six months they were able to be controlled by medication but now it
seems we cannot get it back under control. Some days he can easily have over 30.
We are never without Diastat or Lorazepam.
Now, about Sam the child. He is a very happy boy 90 percent of the time, can
make anyone smile no matter what kind of a mood they are in. Sam gained vision
at 3 months and though it was not good vision it was something and it continued
to get better. Sam is delayed significantly, started rolling over at 13 months,
hated being on his tummy, really did good babbling and sat by himself about 18
months if placed in the sitting position, and army crawled at about two years.
He could sit himself up around 3, about 3 and a half Sam started crawling, he
can now also pull himself to stand and do some walking with a lot of assistance.
Sam is unable to feed himself or hold his bottle. He has severe food allergies
which include dairy, soy, wheat, gluten and bananas and needs his food pureed to
a soft consistency. Samuel loves to throw anything he can and enjoys turning
pages in books, looking at pictures, (not animated) is also a favorite. He has
some words and we also work on picture choices and signing. He loves to play
with our dogs and his siblings and some favorite people, it can be hard though
because Samuel hits and head bangs a lot. We do not believe he understands
exactly what he is doing but that does not change the fact that it hurts. He
also hits himself and will slam his head into hard objects. He does wear a
helmet at times to protect him. We have a special bed for Sam now. He had
broken his arm twice in his crib due to banging we think and fell out head
first, so the insurance company finally said ok. I swear if Sam wants something,
especially at the dinner table, his arms just stretch about 6 inches it is
amazing. He has been in therapies since about 6 months old and is now in
preschool. All his therapists and teachers have been incredible and Sam easily
becomes a favorite to those he sees often. We are fortunate that he only had
severe constipation but not Hirschsprung's disease and that we also have
insurance that although slow at times has provided some very important equipment
that has helped him, and therapists that know what he needs and have always been
willing to go the extra mile. Drs. that look out for his best interest and
family that adores him. His dad and I separated when he was 6 months, and I met
someone who loves Sam as does his children and Sam’s dad married someone who
adores Sam also as does her children. I do think Sam’s favorite people are
Heather and Austin though. He has extended friends and family that adore him
and he loves also. No one walks away from him untouched, I don’t mean only from
him hitting, everyone loves Sam....did I already mention that.....
We thank God for Sam and for the people He has put in his life to help
him all the time. We do know that without all the prayer and love Sam would not
be where he is today.