5 Things | Heterotaxy

In an attempt to explain to friends, family and followers alike, I have put this blog post together to explain the condition that Ivy was born with that has caused her heart defects.

All of Ivy's organs (except her heart) are a mirror image of that of a normal person as far as doctors can determine. However, her heart is more central and her two Atriums (top sections of the heart) both have 'Right' characteristics hence why she has been diagnosed with Heterotaxy / Right Isomerism.

Here's what you might want to know about Heterotaxy, in as little medical jargon as possible:

1. What Is Heterotaxy, Left Isomerism and Right Isomerism

"Hetero" means different, "Taxy" means arrangement 

"Heterotaxy syndrome is a disorder that results in certain organs forming on the opposite side of the body. For example, instead of the heart normally forming on the left side of the chest, it will be located on the right side" - quoted here

This happens during the first few weeks pregnancy

Heterotaxy can also be referred to as Left Isomerism or Right Isomerism. This is determined by pairs of organs that should be different but end up the same. For example, a person with Left Isomerism may have two left lungs or a person with Right Isomerism may have two right lungs.

2.  Situs Ambiguous Vs. Situs Inversus

Situs Ambiguous refers to any case where organs are in the wrong place and the anatomy of the person is different to that of a 'normal' person eg liver is in the middle or the stomach forming on the right hand side.

Every single patient with Heterotaxy (Situs Ambiguous) is completely unique

Situs Inversus is where the organs are a complete mirror image to that of a normal person but are all perfectly in the wrong place so there are no abnormalities. Enrique Iglesias has this, who knew? Situs Inversus can be undetected and people with this can lead normal lives.

3. Cause

"The exact cause of Heterotaxy is not known, This rotation can be affected by many different factors including: infection, genetics, or exposures to certain chemicals. There are a few reports of families having several members with Heterotaxy, but the exact cause has not been identified yet" - quoted here

We were told 'it just happened'. Nothing could have been done to prevent it and we just got unlucky.

"For every 1 million children born, 4 will have Heterotaxy" - quoted here

4. Common Issues with Heterotaxy 

Because the heart is a central organ, it is more likely to get mixed up in the flip when the body is forming and is why heart defects are common within all forms of heterotaxy. Some patients may have no heart defects at all.

A lot of patients with heterotaxy who have heart defects will go down the Single Ventricle route which you can read about here. This is done by the Glenn and Fontan operations which you can read about here

Due to the spleen's position within the body, Left Isomerism is common with Polysplenia (many spleens) and Right Isomerism is common with Asplenia (no spleen) but this is not always the case. We have been very fortunate that Ivy has been born with one, normal sized working spleen but this was not determined until she was 15 months old, before then she was presumed Asplenic by default. The spleen is important for fighting infection, so in patients with already lowered immune systems and more than likely needing surgery, this has huge implications on heterotaxy patients.

Very often, the gut has a habit of trying to 'twist' back to the position it should be in. This requires an operation to pin the intestines in place. Again, we have been very fortunate that this has not happened to Ivy but I have to be very weary of symptoms incase it does.

5. Living with Heterotaxy

Ivy's Heterotaxy was diagnosed during pregnancy at my 20 week scan

Mortality rates are dire. I am reminded every day how lucky I am to even have Ivy here. If Ivy had been born when I was in 1991, it is unlikely that she would have lived to see 1.

Heterotaxy is rare. I am a member of a Heterotaxy UK group on facebook, there are less than 40 members and also a member of the Heterotaxy Worldwide group on facebook, there are less than 400 members. I couldn't imagine doing this journey without the online support of these groups.

Ivy is under a permanent doctor at the John Radcliffe Children's Hospital in Oxford who deals with all issues except her heart. Ivys's heart is dealt with at the Royal Brompton in London.

Ivy is doing far better than any doctor predicted and many professionals are astounded when they see her. This is all we could have ever wished for :)

Extra Links For Extra Reading