Transcript Genetic Counseling

Genetic Counseling
(Down Syndrome)
From: Shelby Finnie
It’s not a burden,
it’s a gift!
Today, I have to tell a couple that their unborn child
had positive test results for Down Syndrome. They
are coming in to meet with me soon and I have
prepared a list of things I need to go over with them
as well as some helpful websites and groups they
can join for extra support. I will also make sure to
tell them right away that I am here to help them
overcome the fear or doubts they have about having
a baby that has Down Syndrome. Most importantly I
need to make sure they know that this child is a gift
not a burden and they will find that raising a child
with Down Syndrome is a very awarding experience.
This is how your baby inherited down
Syndrome
First I would start by explaining that even though their tests came in positive for
having a child with Down Syndrome, there are many false positives and
negatives. So until their child is born nothing is definite. Then I would start
informing them about the technicalities of down syndrome:
Down syndrome is the most common mental disability in the US and affects 1 in 800
babies.
Usually a child inherits 23 pairs of chromosomes, half from the father and half from
the mother. A healthy baby will end up with 46 chromosomes in all.
If something goes wrong before fertilization, one of the parents egg or sperm cell may
have an extra chromosome 21 resulting in the fetus having 47 chromosomes
rather than 46. This is called Down Syndrome or Trisomy 21.
This is a picture of all the chromosomes your baby will have if they
have Trisomy 21.
As you can see the chromosome pair 21 is the pair that has 3
chromosomes instead of 2.
About Down Syndrome
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A child with Down Syndrome is at risk for things like heart
defects, intestinal defects, vision problems, hearing loss,
infections, thyroid problems, leukemia and memory loss. These
sicknesses are curable so your child will most likely lead a healthy
life.
Although your baby will still look like you and your partner there
are some physical traits that babies with Down Syndrome share
like, eyes that slant upward, small ears that may fold over a little
at the top, a small mouth, making the tongue appear large, a
small nose with a flattened nasal bridge, a short neck, small
hands and feet, low muscle tone, and short stature in childhood
and adulthood.
Although Down Syndrome is considered a mental disability your
child will still be able to do most things that unaffected children
can such as walking, talking, and getting potty trained. The
seriousness of the intellectual disability is usually within the
moderate range.
Your child will still be able to go to school and could even
graduate from high school and go on to other collegiate
programs. Once they get older it is within reach for them to have
normal jobs and support themselves, although it will be difficult
and they most likely will need outside help.
Another important thing that these parents need to understand is that a child with
down syndrome can still learn and go to school, they just learn a little slower and
usually end up in a special class by about 2nd grade. It is completely in their child's
reach to end up graduating from high school and maybe even going on to college.
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Although Down Syndrome is considered a mental disability your child will still be able to do
most things that unaffected children can such as walking, talking, and getting potty trained.
The seriousness of the intellectual disability is usually within the moderate range.
Your child will still be able to go to school and could even graduate from high school and go
on to other collegiate programs. Once they get older it is within reach for them to have
normal jobs and support themselves, although it will be difficult and they most likely will
need outside help.
What would life be like with a child
that has Down Syndrome?
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There are no treatments for children that have
Down Syndrome but that doesn’t mean your
life or their life will be ruined. There will be
some obstacles that you wouldn’t have to go
through if your child didn’t have Down
Syndrome, however. These include extra
medical attention, since children with Down
Syndrome have increased risks for certain
illnesses, spending extra time with them to
make sure they are progressing academically,
emotionally, and socially, seeking out different
outreach programs and groups for support,
and dealing with how to divide time between
your child with Down Syndrome and your
normal child if you have one. I will give you
some links to websites and groups that help
give parenting advice as well as extra support
from real people that are dealing with exactly
what you are .
Lastly,
• I will make sure that while I am providing the parents with
this information about Trisomy 21 that I say frequently that
down syndrome is a genetic disease that isn’t a burden. In
fact, most families I talk to that have raised a child with
down syndrome have said it has been a gift and that their
child has taught them so much more than they would have
ever imagined. Children with Down Syndrome are usually
very sweet and loving and that is a gift in itself.
Links that will help you,
• http://downsyndrome.com/what-causes-down-syndrome/: Down
Syndrome.com gives insight and advice on things like how to raise a child
with Down Syndrome and what to expect from a child with Down
Syndrome.
• http://www.ndss.org/index.php?option=com_content&view=article&id=5
9&Itemid=76 National Down Syndrome Society
• http://www.familiesexploringdownsyndrome.org/ Families Exploring
Down Syndrome
Bibliography
• http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html:
• http://www.ndss.org/index.php?option=com_content&view=article&id=5
9&Itemid=76:
• http://www.ucsfhealth.org/education/down_syndrome/:
• http://downsyndrome.com/what-causes-down-syndrome/: Down
Syndrome.com
• Teresa Brady from National Genetics Counselors Society.