Anencephaly

1. Anencephaly Laci Bodin

2. 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.

3. 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.

4. 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)

5. 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.

6. 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.

7. 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.

8. 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.

9. 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.

10. 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