Heterotaxy Syndrome Awareness Day
May 4th is Heterotaxy Syndrome Awareness Day. According to the Heterotaxy Connection, a non-profit organization dedicated to to supporting, educating, and empowering families affected by Heterotaxy Syndrome: “Heterotaxy syndrome is a congenital condition that disrupts the normal left-right asymmetry of the body. This can result in any of the internal organs being misplaced, malformed, multiplied, or missing entirely. This disruption in asymmetry ensures that no two cases of heterotaxy are exactly alike. The cause of heterotaxy syndrome is not fully understood; some genetic links are being explored, but not all cases have been found to have a genetic cause, so research is still needed.”
Sowmya, a local South Bay mom wanted to share her story with our community!
“Our second kid was due on September 16, 2017. My 20 week anatomy scan was due on April 28th. Although I was initially skeptical about taking our 4 year old along with us, I did want us the three of us to be in the room when we found out the gender of the baby. The scan started off normally with the ultrasound tech making the usual comments and showing us baby’s toes, head position etc. but eventually she fell silent with a look of concern on her face. She wouldn’t give us any more information except that the doctor will come in to talk to us, which was my first sign that something was terribly wrong. The doctor told us that our daughter(it was a girl!) had a rare condition called Heterotaxy, which causes organs to be formed differently than they would in normal babies. In our baby’s case, her stomach was on the right side, there was no spleen and her Inferior Vena Cava (IVC) was formed differently. This was the beginning of our journey with Heterotaxy.
In the next 6 weeks, we had at least 11 appointments with Fetal Maternal Specialists, Pediatric Cardiologists and Pediatricians. Our amniocentesis did not show any genetic abnormalities but we quickly understood how rare this syndrome was when we had to start spelling out Heterotaxy when we called a doctor’s office for an appointment. I was getting used to being in a room full of residents who wanted to learn about the baby’s condition. Eventually, the appointments got repetitive and we heard different variations of “we won’t know what other conditions the baby has until she’s born”. We started to educate ourselves about the different complications due to Heterotaxy and do our best to be prepared.
Anika Krishna was born on September 20, 2017. She was in the NICU for 5 days during which they performed tests to check brain development, upper and lower GI issues, ultrasounds and X-rays to check the position of her organs. They confirmed the findings of the fetal ultrasounds and told us that we had to watch for Biliary Atresia, which is liver failure and had to be addressed within 48 hours of seeing symptoms. We were given a list of specialists for us to follow up with. Her official list of conditions were asplenia, lack of spleen function – she takes daily prophylactic antibiotics, intestinal malrotation – addressing this is tricky so we have to watch for symptoms, Interrupted IVC – which could lead to potential heart block, so she sees her pediatrician every 6 months. Outside of these, we have to constantly watch for issues that are common in Heterotaxy kids, like PCD. We are thankful that she chose to be a part of our family and for medical advancements that allowed us to bring her home with minimal intervention.
At the beginning of our journey, we were fortunate to find a non-profit organization, Heterotaxy Connection, that brings together families affected by Heterotaxy. Their objective is to provide the support families like ours need and arm us with the knowledge we need to advocate for our kids. Because this condition is so ill-researched, we find ourselves scrambling for answers and pushing our doctors to look in places where they usually might not. This is why Heterotaxy Connection is actively trying to fund researches conducted across the country. This will enable us to find genetic causes, provide a better understanding of the conditions we notice in our kids (For ex: a research conducted few year ago found that kids with Interrupted IVC sometimes had severe lower extremity pains) and in general, demystify Heterotaxy. I’m very grateful for the support group and their depth of knowledge that has helped us navigate this condition so far. We would appreciate your help in any form, spreading word about Heterotaxy, making a donation or buy a T-shirt“
Sowmya and Krishna live in Torrance with their 2 kids. They enjoy going to the beach and on hikes with the kids and exploring all the cuisines South Bay has to offer.
Learn more about Heterotaxy Syndrom here: heterotaxyconnection.org
