Bowel function is
2-fold: 1) Nutrients are extracted from digesting
food and sent throughout the body; 2)
Remaining waste is collected and eliminated. When this function fails, toxins can build up
and quickly spread throughout the body.
This poisoning is a major danger of HD, especially in babies.
It’s rare when
it’s not. Breastfeeding is natural and
passes immunity for some diseases. But
it was not going well for us. When I
gave up breastfeeding so soon, I felt tremendously inadequate as a mother and
guilty for not persevering. I came to
terms with it and now understand that - in our case - the baby’s disinterest in
nursing was one of the early symptoms.
If she would have fed properly and digested the breastmilk
with ease, then the HD could have been masked.
The disinterest was telling us something was wrong and should have been
taken more seriously by the doctor overseeing her in the early weeks of
life.
WHAT IS AN OSTOMY? An ostomy is a surgical opening that permits waste elimination
to a pouch outside the body. A colostomy
involves the colon (large intestine); an ileostomy
involves the ileum (small intestine).
Ostomies are used in the treatment of HD to cut off the aganglionic (without nerves) segment so a baby can maintain
growth while the lower intestinal tract heals in preparation for repair. This is done by removal of the aganglionic segment, mending and “pull-through” of existing
nerve-populated intestine. The result is
a surgically corrected intestinal tract.
The stoma is the exposed intestine on the
abdomen at the opening of a bowel ostomy. Its appearance should be bright red, which denotes
good blood supply. If purplish or darkness, seek immediate medical attention.
The good news is
that HD is surgically correctable. But I
was terribly scared of putting my baby through surgery, including the aftermath
of handling an ileostomy. However, I was convinced she couldn’t live
without it. I must say that ileostomy made a world of difference – positively. I looked at that bag with the attitude that
it saved her life. I got use to it, and
it wasn’t so bad. (It definitely stank!
but it wasn’t so bad.) It improved
function and overall general good health.
The peace of mind that the baby was now thriving was worth all the
bother of cleaning and caring for the ostomy.
One of the most
gruesome experiences we had with the ileostomy was prolapse – when inches of the intestine would “pop
out”. Her insides would literally come
out through the stoma (opening). We
would need to “roll back” intestine through the opening into the abdomen.
A major problem
with an ostomy is the strong body acids present in
the constantly flowing output. Since
complete digestion does not take place, corrosive digestive enzymes often
deteriorate the plastic ostomy pouch and burn the
skin upon contact. On a small baby, this
means constant care to prevent an open wound susceptible to bacteria and
infection (see “stoma” picture above).
Even after ostomy closure, the “pull-through” rash is a daunting
problem since the skin on the buttock is not conditioned to the digestive
enzymes present in stool. A normal dirty
diaper produces extreme discomfort.
WHY WAS MY
DAUGHTER THE UNLUCKY 1 FEMALE IN 25,000 TO BE BORN WITH HD??
Prior to her
birth in '86, we had friends whose 3-yr. old son was diagnosed with HD, so when
the word "Hirschsprung's" was mentioned to us, it was not totally
foreign. Some time after diagnosis, we
found also that there is a 2nd cousin to my husband who had HD (had not
previously personally known the people of this extended branch of his family
tree). In discussion with them, we
learned that the mother of this boy was coincidentally from my family tree, my
2nd cousin. So, here were 2 kids with HD
who had dads with the same surname and moms with the same maiden name. This intrigued me so I looked into our
genealogy and found that our friend's 3-yr. old son (mentioned above) also
linked into both of these (unrelated) families.
The connection has a twist but it is definitely there: In the 1800’s, a woman from my family tree married
a man and had a son, this son then married a woman from my husband's family
tree and had a son in 1891, and 3 generations later, a great-great-grandson was
born in 1983 with HD! Additionally,
another boy born into a completely different family in 1988 had HD and is also
in my husband's family tree and in my maternal family branch. All 4 of these HD kids, born between 1970 & 1988, live within a 10-mile radius.
I have not heard of another infancy case since '88 in our small town
(nearby
So, Alexis is
genetically connected to 3 other HD kids (in not 1 but 2 ways each), yet has a
biological sister (Emily) 5 years younger who does not have HD. Alexis and the other HD kids and some family
members have submitted blood samples to an HD study. Unfortunately, the cause and pattern of
occurrence remain a mystery at the turn of the 21st century.
HD is such an
unpleasant condition. Its embarrassing
nature makes it difficult to discuss – it is not polite conversation. You’ll just have to get past that –
Embarrassment is secondary. A sense of
humor helps (poop jokes are usually a hit!).
As crusaders
of this cause, we must promote awareness for early detection and diagnosis so
that senseless suffering will be avoided, and proper treatment can ensue.
Disclaimer: For
Informational Purposes Only. Check with
Medical Professionals for Advice.
Dec. 2001
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