Transcript Anencephaly - Kids Cruises of Savannah, GA

Anencephaly
Laci Bodin
What is Anencephaly?
 It is a defect in the closure of the neural
tube during fetal development. The neural
tube is a narrow channel that folds and
closes between the 3rd and 4th weeks of
pregnancy to form the brain and spinal cord
of the embryo.
What occurs….
 The “cephalic” or head of the neural tube fails to close, resulting in
the absence of a major portion of the brain, skull, and scalp.
 Infants with this disorder are born without a forebrain (front part of
brain) and a cerebrum (thinking and coordinating part of the brain).
 The remaining brain tissue is often exposed.
 A baby born with anencephaly is usually blind, deaf, unconscious,
and unable to feel pain. Some can be born with a rudimentary brain
with if the lack of a functioning cerebrum permanently rules out the
possibility of ever gaining consciousness but reflex actions such as
breathing may occur.
 If the infant if not stillborn, then he or she will usually die within a
few hours or days after birth.
THE CAUSE IS UNKOWN!!
 Although it is thought that a mother’s diet
and vitamin intake may play a role,
scientists believe that many other factors
are also involved.
 Recent studies show that addition of folic
acid to the diet of women of childbearing
age may significantly reduce the incidence
of neural tube defects. (0.4 mg daily)
Folic Acid



Folate and folic acid are forms of a water-soluble B vitamin. Folate occurs
naturally in food. Folate is necessary for the production and maintenance of
new cells. This is especially important during periods of rapid cell division and
growth such as infancy and pregnancy. Folate is needed to make DNA and
RNA, the building blocks of cells. It also helps prevent changes to DNA that
may lead to cancer
What foods provide folate?
Leafy greens such as spinach and turnip greens, dry beans and peas, fortified
cereals and grain products, and some fruits and vegetables are rich food
sources of folate. Some breakfast cereals (ready-to-eat and others) are fortified
with 25 percent or 100 percent of the Daily Value (DV) for folic acid.
Some situations that increase the need for folate include:
– pregnancy and lactation (breastfeeding)
– alcohol abuse
– malabsorption
– kidney dialysis
– liver disease
– certain anemias.
Suggestive screening test
 It is common to screen a woman’s blood for
alpha fetoprotein.
 A high level of AFP suggests a fetus with a
neural tube defect.
 Amniocentesis can also help detect neural
tube defects by measuring AFP.
 There is no cure or standard treatment for
this birth defect.
Prince Brandon

Prince may sound like an arrogant title for us to
use. What other name can you give to someone
who came into the world and left without ever
making a sound, but changed so many lives
forever! Brandon was a surprise to his daddy and
me. We were married for less than 5 months when
we discovered that we were going to have a baby!
Since I had been told that I was not going to be
able to conceive (due to health problems on my
part), I was worried about the health of our baby.
The technician began the ultrasound, commenting
on how tiny I was carrying. She mentioned how
she couldn't see the baby well and would have to
get the doctor. The doctor came into the room
and after only a minute, he said, "there is no good
way to say this. Do you want to talk here or in the
office, because there is something wrong with
your baby." Jeffrey started to cry and squeezed
my hand. I wanted to know immediately, while I lay
on the table with my baby on the screen. He said,
"Your baby has a birth defect like you were talking
about with the counselor. The baby has
anencephaly. There is a 100% fatality rate with this
defect." I remember those words exactly. I always
will. This is the moment my life changed forever. It
is the moment I became a mourning mommy and
the moment I discovered my anencephaly
blessing from above. By this I mean, that instead
of preparing for my son's life, I began mourning
his inevitable death.
Sunshine and Katelyn

On January 8, 2000, my husband, Josh, and I
found out that I was pregnant for the first
time. Our due date was September 15, 2000,
nine long months away. The doctor’s office
scheduled me to go in for an ultrasound first
thing Monday morning, February 14. We went in
and the ultrasound technician found that we
were having twins---WOW! It was a great
Valentine’s Day gift. We decided to have the
triple-screen pregnancy testing done, because
if they could detect problems, sometimes they
can help the babies before they are born. I got a
call from the doctor’s office that my test came
back high. They then scheduled me for a level II
ultrasound. I was 17 weeks along on April 10,
when we went to our ultrasound. Our
ultrasound technician scanned Baby B first.
Everything looked really good. She told us we
were having two girls. When she went to scan
Baby A, she talked for a little bit and then got
really quiet. She went to get the doctor, and I
became certain that something was very wrong.
The doctor proceeded to tell us news that
changed our lives forever, that our Baby A had
anencephaly. This is a fatal neural tube defect
where the brain and skull do not develop
because the neural tube failed to close 28 days
into the pregnancy. We were in total shock to
find out that nothing could be done for
her. They robbed us of all hope for her that
day. I found myself wishing that she could have
had anything except a defect that would not
allow her to live.
Are you related?....
 Couples that have had a previous child with a
neural tube have a 1 in 40 chance of recurrence.
 More distant (second degree) relatives to an
individual such as nieces or nephews would have
a 1 in 200 risk of a neural tube defect.
 Third degree relatives such as cousins have a 1 in
400 risk for a neural tube defect.
 And fourth degree would have a risk similar to
general population 1 in 670.
Support groups
 The antenatal Genetics Clinic at the Alberta
Children’s Hospital will provide counseling
and arrange prenatal testing if requested by
the family or family practitioner.
 There are many websites that give access
to support groups and other mourning
parents.
– Health.groups.yahoo.com
– www.climb-support.org