Emma Peyton...our little Miracle!

We found out at our regularly scheduled sonogram, at 21 weeks, that our baby girl had "some type" of heart defect.  Many doctors and two hospitals later we found out that she had Truncus Arteriosus.  This defect is where the two main arteries in the heart do not form (the separation to make two does not happen).  We were told that she would need to have surgery shortly after birth to repair this defect and that the surgery would save her little life.  When we were told these words, we were devastated!  I wanted to know what happened to my baby...why did it happen to her?  I had two perfectly healthy older children.  This just wasn't supposed to happen!!

Over the next few months I cried and wondered how her life would be?  How this would affect her quality of life.  Knowing that they were also going to test her for DiGeorge Syndrome after she was born scared me also.  That diagnosis would make things even more complicated.   So, I started researching as much as I could.  I just wanted to prepare myself for "whatever the outcome would be".  I was going to love her and do whatever I could for her, so I needed to know all about her condition. 

Emma was born on August 28, 2007.  She was stabilized and I finally got to hold her.  She was pink and perfect!  Then, she was whisked away to the NICU of Texas Children's Hospital.  The doctors did her repair surgery on day 18 of her little life.  The surgery was long and agonizing for our family but she came through like a trooper.  We found out the day of her surgery that she does have DiGeorge Syndrome but she has a complete thymus gland.  At that point all we could do is sit and wait to see how the syndrome would affect her.

Emma is now three years old and doing great!  She has not had any type of procedure beyond her normal 3 to 6 month echoes.  She is small for her age and underweight like most heart babies but she is a bundle of joy and energy!  She will be having her conduit replacement surgery this coming February ,so we do ask for prayers during that time.  The conduit they placed in her, that acts as her pulmonary artery, does not grow with her so it must be replaced as she grows.

If you saw Emma swinging on the playground you would not know there is a thing wrong with her!  As far as her DiGeorge Syndrome goes, she is one of the rarities.  She

has not shown any symptoms other than a small speech articulation problem.  That may change as she gets older but we will deal with that when the time comes (if it comes).  She is our little miracle and we are so blessed to have her!

You can follow Emma's story at carepages.com: EmmaLowther

Screening for CCDC40 gene mutations may help determine risk for congenital heart defect

From The Medical News

December 7, 2010

A gene that can cause congenital heart defects has been identified by a team of scientists, including a group from Princeton University. The discovery could lead to new treatments for those affected by the conditions brought on by the birth defect.

Princeton researchers focused on identifying and studying the gene in zebrafish embryos, and the team's work expanded to include collaborations with other groups studying the genetics of mice and people.

Continue reading here.

Stitch In Time: Fixing A Heart Defect Before Birth

From NPR

December 13, 2010

Kim Wells was 23 weeks pregnant when doctors told her there was a problem with her unborn daughter's heart. Two days later, the Iowa woman found herself in a Boston operating room, surrounded by doctors.

"They told me that they would go directly through my stomach with a needle into my uterine wall, directly into her heart," Wells says.

Wells is one of 200 or so women who have undergone an incredibly delicate operation that can actually prevent their babies from being born with a fatal heart defect called hypoplastic left heart syndrome, or HLHS.

Without this operation, these babies are born with half a heart. But if it works, fetal surgery enables them to develop almost normally.

Continue reading  here.

Will We Ever Know for Sure if Paxil Causes Paxil Birth Defects?

From Lawyers and Settlements.com

December 29, 2010

Toronto, Ontario: The debate over Paxil side effects as they relate to infants born with heart defects continues to be hotly contested-especially given the need for some women to remain on antidepressants on a consistent basis for depression. So do you stop an antidepressant like Paxil during pregnancy and risk harming the mother? Or do you continue and risk Paxil birth defects?

As recently as this past August, Motherisk, a department of women's health at the Hospital for Sick Children in Toronto, concluded "the evidence that paroxetine (Paxil) increases the rate of cardiac malformations above the population baseline risk of one out of 100 pregnancies just does not exist."

This, in spite of the Paxil lawsuit where Paxil manufacturer GlaxoSmithKline (Glaxo) was required to pay a $2.5 million settlement to the family of a child born with a heart defect. The child's mother took Paxil during the first trimester of her pregnancy.

There is little doubt that the issue has been well studied. However, conclusions vary. Motherisk noted a 2005 study posted by Glaxo on its Web site that suggested a two percent risk of congenital malformations, compared with one percent in the control group. A separate study in Sweden arrived at similar findings.

However, Motherisk conducted its own prospective, comparative cohort study with data from teratogen information services globally. Analyzing the outcomes of 1,170 infants from eight teratogen services found the rate of heart defects in the Paxil group and that in the control group was equal at 0.7 percent.

Motherisk also noted on its Web site, in a posting from August, that two additional studies out this year on Paxil defects both found a marginal increase in heart defects associated with paroxetine (Paxil). And yet the odds ratio was below two-which represents a marginal increase in risk at best.

Continue reading here.
 

Tradewinds Park, Coconut Creek, Florida

Register online here.

CHD Birthdays