Sarah's Son Sam
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This Story was written in 2000 for a Hirschsprungs Newsletter
SAM’S STORY
Sam is our second child born on 23rd April 1993. He has an older brother Tom and
younger sister Sally who both enjoy good health. The pregnancy with Sam was
difficult. At the first ultrasound a suspected kidney problem was seen, but
after four more ultrasounds we were told everything was fine and that the first
ultrasound was wrong. I went into labor feeling something was very wrong.
Unfortunately it was.
When Sam’s cord was cut after delivery it was found that instead of the normal 3
vessels his cord only had 2. The mid-wife told us this could mean Sam had
problems with his kidney or heart and of course we thought it must be his
kidneys due to the first ultrasound. As it turned out his kidneys were
relatively OK but his heart was not. His color at birth was a deep crimson and
he screamed non-stop and would not feed. During his first few weeks on three
separate consultations with pediatricians we were told Sam was OK and was a
healthy baby.
At six weeks of age, we took Sam to the Baby Health Clinic and the nurse advised
us to take him straight to Hornsby Hospital due to his poor color. He then
became gravely ill and was transferred to Kids’ Hospital with very low oxygen
levels in his blood. Later that day he was transferred to intensive care
although the hospital was still unsure what was wrong. At 3 a.m. he had a heart
scan and was found to have major complicated heart disease.
Sam’s heart defect is Pulmonary Artesia with VSD and Mitral Valve Stenosis. We
were advised at this time, Sam would need a lot of surgery and medications for
life. After a week or so we took him home on medication as his first cardiac
procedure could not be performed until he was three months old. When we returned
home however, Sam continued to deteriorate in all areas - he would not feed,
screamed continuously, had offensive wind and up to 20-30 dirty nappies per day.
Life was hell.
Nothing we did could soothe Sam — he continued to scream day and night. He would
not feed and as a consequence failed to thrive. By the age of two months he was
being fed through a NG tube.
Sam was in and out of hospital continuously for the next three & a half years
for surgeries, infections and procedures. The following describes Sam’s many
additional conditions as they were detected.
Microcephaly (small head)
Global severe developmental delay
Severe gastric reflux requiring gastrostomy and Nissen fundoplication
Kidney reflux grade 2
Immune deficiency
Severe epilepsy
Chronic glue ear
Hearing and vision problems
Undescended testes
During these years constipation and severe wind had been an enormous problem for
Sam. Years of laxatives, enemas and suppositories had failed to ease his pain
and suffering. We had also tried many medications to try to help Sam digest his
food and gain weight, all to no avail.
We also sought opinion and advice from many doctors and specialists to find out
why Sam screamed and was in constant pain. Despite all our efforts nobody could
give us an answer except that it was probably due to his “developmental delay”.
We knew this could not be the case.
When Sam was about 3-1/2 years he had acute abdominal pain and distention and as
his usual pediatrician was on holidays, we were referred to a new pediatrician.
This doctor then took more bowel x-rays and felt there was indeed a problem and
phoned Sam’s surgeon. The surgeon then ordered a barium study and while awaiting
these results the barium caused a large bowel obstruction. Sam then had to go to
theatre to have the barium surgically removed. While in theatre the surgeon took
biopsies of Sam’s bowel and after a few more days he came to the ward and told
us Sam has Hirschsprung’s disease.
Our first reaction was relief to know the cause of Sam’s pain all these years
and we began to hope that Sam may be “pain free” in the near future.
Anger soon followed that Sam had been left with this condition untreated for so
many years when we had asked, even begged for someone to help him. In hindsight,
Sam has had all the symptoms of Hirschsprung’s since birth but these had been
overlooked. Had a thorough examination been carried out early in Sam’s life he
and our family would have been spared a lot of pain and suffering.
Soon after diagnosis Sam had a temporary colostomy made, followed by a Duhamil’s
pull-through and about three months later the colostomy was closed. His
surgeries had to be close together as his main cardiac surgery had been
cancelled due to the diagnosis of Hirschsprung’s. The cardiac surgeon would not
do heart surgery whilst Sam had the colostomy as he has a poor immune system and
had suffered many episodes of septicemia and the surgery would have put Sam at
great risk of further infection.
The first six months after closure were the happiest Sam had been. Although he
was having up to 20 motions each day he seemed comfortable and was eating more
than at any time in his life. This did not last and after a while Sam’s bowels
started to slow down and he began to have acute and sub-acute obstructions. His
weight fell and once again his pain became unbearable. We began to look for new
answers.
Unfortunately a problem with Sam’s treatment has been his inability to
communicate through speech as to where his pain is and whether he is nauseous
etc.
So many things happened over the next year or so with doctors and treatments it
is difficult to remember the exact sequence of events. It was finally decided
that Sam should have a permanent colostomy which was made in 1999. Once again
this seemed to be the answer for another six months, but Sam has since had
continual problems with obstructions and severe pain and gastric stasis. The
last surgery he had for obstruction caused by adhesions was about two years ago.
Sam’s health has been up and down with various illnesses since then.
Sam is a long way from being a healthy boy but at nearly nine years of age his
health is probably the best it has ever been. He is still being fed via
gastrostomy tube although he will eat some foods orally but not consistently.
Favorite foods being McDonalds fries and Freddo Frogs and he can drink apple
juice from a popper bottle.
We enrolled Sam in our local school last year and he is supported by a teacher’s
aide. When he is well, he attends three to four days per week from 9am-lpm and
loves it!
Sam is very affectionate and although he still cannot speak he understands
simple instructions and enjoys playing on his computer, watching his favorite
videos, looking at books and listening to music. Sam is also very happy in our
pool and would stay there all day if allowed.
Sam has seen geneticists throughout his life and until discovery of his
Hirschsprung’s they were unable to classify him into a syndrome. Now however
they have published a group of children (including Sam) who have similar
features and illnesses and although research is still continuing a gene has now
been identified and this syndrome should have a name in the near future.
Sarah & Chris Fitzsimons
Follow up. This story was written in 2000, Sam has since been diagnosed with
Mowat-Wilson Syndrome.
Mowat-Wilson Syndrome