A Broken Heart

Incidence:
35,000 children are born with heart defects every year (American Heart Association)
Only 1% of those children have truncus arteriosus (many sources, including the Herma Heart Center where Turnip may be treated)
That means about 350 babies are born in the U.S. with the same condition as Turnip every year. (330 according to the Morbidity and Mortality Weekly Report from jan 6, 2006)
Treatment:
Surgery usually happens at 6-12 weeks (EPA, page 4)
15-50% of children require another surgery within the next five years (i.b.i.d.)
All heart valves are replaced after 12 years(i.b.i.d.)
Newborns with truncus arteriosus stayed in the hospital for an average of 30 days during 2003 (CDC, table 2)
The hospital charges for this stay (not including lab tests and doctor fees) ran to $200,000 (CDC, table 2)
Mortality:
In a small study published in 1996, 6% of infants died before surgery and 10% died during surgery (EPA, page 4)
In a national survey, 20% of newborns with truncus arteriosus died in the hospital in 2003 (CDC, table 1)

Sunday, August 31, 2008

my very bad day

Thursday, I joined "Alexander and [His] Terrible, Horrible, No Good, Very Bad Day." It started with the realization that, if my last pregnancy had gone to term, I would be meeting my baby right about now. I never really recovered from that realization.

Later, I called the genetic counselor and the insurance company. During each call, I learned unexpected bits of information about Turnip's treatment options.

Finally, I called my husband, Kevin, and vented my frustration. I yelled and cried and made irrational and unkind threats. He listened and said, "I love you."

Friday was much better.

size matters

According to our doctor, the surgeon in Milwaukee prefers to wait to do the surgery until the baby weighs at least 10 pounds. Some babies with TA don't feed well and require a feeding tube to make it up to that weight. I don't want Turnip to have a feeding tube.

We'll just hope he takes after his older sister. She weighed in at 8#2oz at birth and was into size 3-6 mo. clothes one month after she was born.

I've been told that women's babies tend to get larger over time. For example, my grandma's first weighed in around 6 #. Her third (my dad) topped the scale at 10#. I'm hoping Turnip follows this trend. I want him at least 9# at birth.

Anyone have any sure-fire tricks for growing a big baby????

Friday, August 29, 2008

meta-analysis

I know that there is a connection between some genetic defects and truncus arteriosus (TA). I haven't gotten a consistent answer on the strength of that connection.

Using a medical research search engine, I found six papers that addressed the co-incidence of TA and 22q11 (one genetic disorder associated with TA). The abstracts from five of the papers included the number of TA babies studied AND either the number or percentage of babies with 22q11.

I combined the numbers from all five of those papers. According to my calculations, 48/134 (36%) of babies with TA also have 22q11. So, there is a 36% chance that Turnip will have 22q11.

However, some research seemed to suggest that 22q11 shows up more frequently in certain sub-types of TA (Type A3 with major aortopulmonary collateral arteries and pulmonary ostial stenosis and Type A1 with pulmonary artery stenosis) and in connection with certain other complications (abnormal sidedness or branching of the aortic arch) Turnip does not have a sub-type of TA that carries the highest risk. He also does not have the other complications.

pieces of the puzzle

Today, Kevin talked to the pediatric cardiologist. We had an extensive list of questions. Each time I learn more, I feel like another one of the 1000 pieces of this puzzle falls into place. As the picture becomes clearer, I feel more confident in our ability to make the best possible decisions in the coming months.

Our doctor has worked on cases where the pulmonary arteries did not continue to develop and the baby's growth slowed. He said, in those cases, intra-uterine surgery is an option. He also said, in those cases surgery becomes much more risky.

I oppose intra-uterine surgery--not in general and not for everyone--but for me and for Turnip. Kevin agrees. Every choice has costs and benefits. In this case, the potential risks and certain pain for the baby and me outweigh the possible benefits.

So far Turnip is on track growth-wise. The pulmonary arteries looked good at the last exam and the ultrasound tech estimated he weighed 13 ozs--right on schedule for a 20/21 week fetus.

Thursday, August 28, 2008

confused

In some ways, my background makes it easier to understand Turnip's problems. I've dissected hearts and taught anatomy and physiology. My background even makes it easier to explain Turnip's problems to other people. I've practiced using plain English to explain science concepts. Once I get going on the technical aspects, I enter the zone and stop feeling so sad--after all it's just biology...and I love helping people understand how life works.

We go back to the perinatal clinic for another echocardiogram and ultrasound on September 19. The doctor wants to make sure Turnip is growing and that his blood vessels are developing. I understand what grow means. I understand what develop means. I don't understand what it would mean if Turnip stopped growing or his blood vessels didn't continue to develop correctly. Would that mean he would need to be delivered early? Would that mean he would no longer qualify for the corrective surgery and would instead need a heart transplant? Or would it just mean that his case was hopeless? There are so many unknowns. I have a call out to the doctor to ask some of those questions.

Wednesday, August 27, 2008

the ache in our souls

"The ache in our souls is almost too much to bear." -Kofi Annan , 2003

Last Wednesday, we learned that Turnip is a boy. We also learned that he has a heart defect. On Friday, a pediatric cardiologist confirmed that Turnip's heart did not form completely.

Saturday, I sent an email to some of my family to explain the problem. Here's part of that email.

Turnip has truncus arteriosus, type 1. This website has a good picture of a normal heart and turnip's heart.

He has a hole in his heart, is missing one heart valve, has another abnormal heart valve, and only has one blood vessel coming out of his heart where he should have two. If he survives to birth, doctors will crack his breast-bone, take out his heart and repair as many of the defects as they can.

I was really scared about what the scars from open-heart surgery look would look like. Today I did a google search. They're not nearly as bad as I imagined.

The survival rate for this surgery is around 80% and we'd have to travel to get it done as it's not performed in Madison.

Unfortunately, his first open-heart surgery will not be his last. Our pediatric cardiologist said he'll need another one around 1 year, a third around 6 or 7, and then every ten years after that.

The heart defect is only the beginning. Apparently, in some babies born with truncus, the defect is only one symptom of a larger problem. There are several syndromes that could have caused this defect including some that are fatal (trisomy 18, trisomy 13) and some that include retardation and failure of other organs (diGeorge syndrome, Down's Syndrome, VCFS, 22q11.2). So far there are no indications that Turnip has any of these problems, but I don't think we'll know for sure until he is born as I'm leaning away from having an amniocentesis.

One of the worst parts of this discovery was the wait between the first scan on Wednesday and the second scan on Friday. As the doctor checked the images on Wednesday, I compared them to normal heart anatomy. I could see the problems, myself. Between Wednesday and Friday, I did some research. I figured Turnip could have one of two problems. I hoped it was the other one. The other one would have required only one open-heart surgery.