Heterotaxy...sometimes, it just works.

My son, Cal, is nearly 2 and a half.  He has heterotaxy, but he has had no major medical problems related to his heterotaxy diagnosis.  We know we are very lucky.

Cal’s specific diagnosis currently includes: left-atrial isomerism with an interrupted inferior vena cava with hemiazygois continuation, stomach on right side, large midline liver, polysplenia (at least 5), intestinal malrotation (specifically, non-rotation).  He has also had malformations noted with his gallbladder and kidneys.

We discovered Cal was different at his 20 week ultrasound scan, you know, the ‘gender-reveal’ scan.   I was thrilled to be having a little boy, and the tech was bubbly and talkative until she wasn’t.  At the end of the scan, she brought in a doctor and another tech to look at the images and they told me my son’s stomach was on the wrong side.   The doctor said she had never seen it before and didn’t know what it meant. 

We eventually got referred to a pediatric cardiologist where I had a fetal echo and we got the diagnosis of heterotaxy.  The cardiologist assured us that Cal’s case was very positive compared to many heterotaxy cases.  She said that there were no guarantees, but a likely worst-case scenario for him heart-wise would be that he would need surgery to close any potential atrial septal defects, or he might require a pacemaker.   She also warned us, however, that other systems were affected with heterotaxy and we would need other consultations.

Getting the diagnosis of heterotaxy changed things for me.  I am a geophysics professor, and though I am not medically trained, I am scientifically trained and I also have access to virtually all medical journals.  This is, perhaps, both a blessing and a curse for me.  I began voraciously reading about heterotaxy, both online blogs and medical journal articles.  I read the harrowing stories of parents that had fought for their children to the end of their short lives and I also read the medical journal statistics showing the multitude of potential problems and high mortality rates for heterotaxy.   I made lists of possible issues Cal could have, and filled a manila folder with journal articles on heterotaxy.  My MFM doctor and I made a plan for his birth that included having a Level 3 NICU team in the delivery room to evaluate him right after birth.

Cal was born on a Friday evening after only two hours of labor.  I was thrilled when the NICU team said that they saw no reason to take him and that Cal could stay with me or in the well-baby nursery (well baby!), and that he would just have a few extra tests.   He looked like the perfect little baby.

Cal being the perfect heterotaxy case, however, was broken the day after his birth when we were told that he had no visible spleen on an ultrasound; I contested this finding since his particular heterotaxy characteristics fit so well with left-atrial isomerism, also frequently called polysplenia because the features usually occur together.  A few months later an ultrasound tech identified 3 round spleens and later an abdominal scope to look at his intestines found 2 more spleens. 

Cal (3 months), big sister Eva and Mommy celebrating ‘Spleens Day’ the day that 3 small spleens were found on Cal’s ultrasound scan.  Some spleens must be better than no spleen right?!

We currently treat Cal as functionally asplenic with a very low dose of daily antibiotics, since polysplenics may or may not have fully functioning spleens.    I was very nervous about this particular diagnosis when he was a baby because functional asplenia makes Cal very vulnerable to sepsis, which can occur incredibly rapidly in babies and small children.  Alex (my husband) and I were constantly checking his forehead for fever, or any other signs that he might be sick.  You know how some women wake up at night to check if their new baby is breathing?  I was checking to see if Cal was feverish.

Two years later, I am much, much less worried about Cal’s heterotaxy.    Cal does all of things two year olds do.  He loves watching Elmo and splashing in mud puddles. He goes to the gym kid care and throws magnificent bedtime tantrums. Aside from the daily antibiotics (which we struggle to remember) very little reminds me that Cal has heterotaxy.  Instead we worry about his speech progression (he is a bit delayed, but he is catching up rapidly), his frequent falls while running (his is pretty klutzy, like his mama) and trying to get him to go to sleep at night.

Cal, 2.5 years, at the Columbus science center COSI. 

I am not a really open person on social media. But I am so grateful to all of the women and men who have shared and are sharing their stories about heterotaxy.  They helped me to understand what I might be dealing with after Cal was born, when I was preparing for this unique, complicated baby.  I honestly don’t remember reading a story about a baby or young child that was as positive as Cal’s story.  So I am adding this out into the internet as another heterotaxy experience.  Yes, many times heterotaxy is difficult and dangerous, but sometimes, it just works.

Ann Yockey, mom to Cal