Caleb's Heart Story: Our Genetic Testing Conclusion

Wednesday, December 8, 2010

Our Genetic Testing Conclusion

Well, Genetics called me this afternoon. Right as we were pulling into the parking lot of Cincinnati Children's, actually. Kind of ironic. We learned that my chromosomes are normal. Besides the small duplication, everything is fine, and I'm not affected by it. They do not believe that the duplication that Caleb also had, has anything to do with his heart defects. That is a good thing. :) They don't see any reason, genetically, for why it happened. We should be reassured they said. I have mixed feelings right now, but it IS good. There is nothing they found that is saying that we would have another heart baby in the future.

2 comments:

scrapangelDecember 8, 2010 at 12:02 PM
I hope that having some answers is a help to you guys.
- Melissa
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ShellyDecember 8, 2010 at 12:26 PM
That is excellent news for the future! I know it doesn't give you any answers or that any other babies would ever take Caleb's place. But knowledge is good!!!
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CHD Facts

What is a congenital heart defect? A congenital heart defect is an abnormality in any part of the heart that is present at birth. Heart defects originate in the early weeks of pregnancy when the heart is forming. About 35,000 infants (1 out of every 125) are born with heart defects each year in the United States (1). The defect may be so slight that the baby appears healthy for many years after birth, or so severe that his life is in immediate danger.

Heart defects are among the most common birth defects and are the leading cause of birth defect-related deaths (2). However, advances in diagnosis and surgical treatment have led to dramatic increases in survival for children with serious heart defects. In the United States, about 1.4 million children and adults live with congenital heart defects today (3). Almost all are able to lead active, productive lives (1).

The American Heart Association directs only $0.30 of every dollar donated toward research. The remainder goes toward administration, education and fundraising efforts. Of the $0.30 that goes toward research only $0.01 goes toward pediatric cardiology for CHD.

Did You Know? Nearly twice as many children die from Congenital Heart Defects in the United States each year as from all forms of childhood cancers combined.

Hypoplastic Left Heart Syndrome (HLHS) is a condition in which the left side of the heart is underdeveloped. Usually, the left ventricle, the left atrium, the mitral valve and the aorta are affected. It is called a syndrome because it can encompass several different variations and varying degrees of development of these parts of the heart.

Babies with HLHS do not have problems while in the womb - it is only after birth that the heart fails to work properly. This is because all babies receive oxygen from the placenta while in the womb, so blood does not need to go to the lungs. In addition, there is an opening between the pulmonary artery and the aorta, called the patent ductus arteriosus (PDA) that is present in all babies. It allows the blood to go from the right ventricle out to the body, bypassing the left side of the heart.

Ventricular Septal Defects (VSD)
It is a hole in the wall separating the two lower chambers of the heart.

Coarctation of the Aorta (COA) It is a narrowing of the major artery (the aorta) that carries blood to the body.
Coarctation of the aorta occurs in about 6 to 8 percent of all children with congenital heart disease. Boys have the defect twice as often as girls do.

Large Patent Ductus Arteriosus Patent ductus arteriosus (PDA) is a condition in which a blood vessel called the ductus arteriosus fails to close normally in an infant soon after birth. (The word "patent" means open.) The condition leads to abnormal blood flow between the aorta and pulmonary artery, two major blood vessels surrounding the heart.

ASD-PFO
A patent foramen ovale (PFO) is a defect in the septum (wall) between the two upper (atrial) chambers of the heart. Specifically, the defect is an incomplete closure of the atrial septum that results in the creation of a flap or a valve-like opening in the atrial septal wall.

Arrhythmia
An arrhythmia is an abnormal heart rhythm. There are many different types of arrhythmias that range from harmless to life threatening. An arrhythmia can be regular, meaning it occurs at evenly spaced intervals, or irregular, meaning it has no pattern.

Second Degree- Heart Block
only some electrical impulses reach the ventricles. The heart may beat slowly, irregularly, or both.
On an EKG, the pattern of QRS waves doesn't follow each P wave as it normally would.

All About Caleb Thomas

*Your feet were ticklish :)

*You didn't like when the nurses changed your diaper.

*You always had your head layed to the right side.

*You made the cutest little snorting noises.

*You loved your froggie soothie buddy.

*You always tried to pull out your oxygen- and succeeded numerous times. :)

*You had the softest skin.

*Your smell is still with me- I remember it exactly.

*You had the most adorable hair... with a reddish tint.

*While in the hospital, you shared a few toots with me... I won't tell :)

*You were the strongest person I have ever met. You are my hero.

*You were PERFECT.