Organization: Heterotaxy Connection

May 4, 2015 will mark the second annual Heterotaxy Syndrome Awareness Day. Heterotaxy Syndrome or Ivemark Syndrome, as it was once called, was first documented in 1955 by Swiss doctor Bjorn Ivemark. In the 1980’s it was suggested that Heterotaxy only affects four million live births, but today’s diagnoses appear to be climbing as high as 1/10,000 due in part to advances in prenatal imaging and better prenatal care.

However, the exact numbers aren’t fully known and there are still some cases that go undetected until birth or even until after adulthood.

Maria’s Story

My baby’s case was one of those that went completely undetected until after she was born. I had a “picture perfect” pregnancy with my second child, I had no morning sickness, only gained 14lbs., and all of the ultrasounds looked good. But when she was born, it was all too apparent that something was terribly wrong. Layla had to be immediately intubated and the x-Ray revealed that her entire right side of her chest was “whited out.”

We both ended up getting transferred to a larger hospital, as the hospital I delivered her at didn’t even have a NICU. Further scans there showed Heterotaxy, Dextrocardia, an an almost completely absent right lung. Within a couple of hours she was airlifted to a hospital almost two hundred miles away from home. More tests there revealed a further diagnosis- Heterotaxy, Dextrocardia, AVSD, CoA, Hypoplastic right Lung and right Pulmonary Artery, and an enlarged Liver that took up her entire right lung cavity. Layla had open heart surgery at ten days old for her CoA and to place a PA band around her left pulmonary artery. While she was there, it was a roller coaster.

She would remain in the hospital for the next three months and sadly she passed away at exactly 3 months old from an infection that got in her bloodstream and went to her heart.

Heterotaxy literally means “different arrangement.” It causes defects in the body’s organs by causing them to be malformed, missing, in the wrong places, or you can have multiple organs as well, such as having multiple spleens. Heterotaxy Syndrome also varies in severity from mild to severe. It is mostly known to effect the development of placement of the heart, lungs, liver, and intestines but other organs can be effected as well such as the kidneys and spleen.

The exact cause of Heterotaxy is not known but the symptoms result from the way that the internal organs turn into position during fetal development. Genetics, infection, and exposure to certain chemicals are just a few things that are known to effect this rotation. Not all cases have been proven to have a genetic link but there are families that have several members with Heterotaxy.

Most children will need surgery within the first year of life whether it be on the heart, intestines, or another organ just to be able to survive. Many people with Heterotaxy are diagnosed prenatally, or shortly after birth. But there are some that are completely unaware that they have it until adulthood.

Heterotaxy Syndrome requires a team of doctors/specialists, medicine, and life long care, as a result, many parents and adults with the syndrome, find that treating it is a complete balancing act. Shifting treatment in one area, may cause a domino effect in another. Many medical specialisties are unaccustomed to looking at a patients entire health situation, but Heterotaxy patients are the most stable when they are looked at as a whole, or an all-encompassing condition.

An awareness day gives our families time to celebrate our Heterotaxy warriors, remember those angels that are no longer with us, and honor the doctors, researchers, and community members that have dedicated their lives and work to our cause.

If you or someone that you know, has Heterotaxy and would like to be involved or is in need of support, please come to our Facebook page, Heterotaxy Connection and join our support group.

 

2 thoughts on “Heterotaxy Syndrome Awareness Day, May 4th”

  1. Thank you for sharing your insights on this subject, this is very inspiring am however sorry Maria for what you had to go through with your daughter. The positive thing however will be that this story will encourage another person going through the same problem.

  2. Joseph Sprague says:

    My beautiful daughter Courtney also passed away from Heterotaxy Syndrome complications at 3 months old. I am truly sorry for your loss and wish you peace in this world and the same wonderful reunion with your child that I know awaits me many years from now.

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