Advances in technology find rare condition

Times Reporter     

 

Imagine being told your baby has no stomach while you’re still pregnant. The fear and the wonder alone would drive you crazy. Now what if you found out that all of your baby’s organs aren’t where they are supposed to be? Instead, they are flipped! That’s exactly what happened to Denise and Ryan Geremia. 

“With advances in technology is how we found out. Everyone when you’re pregnant goes for a 12-week ultrasound, so we went and the tech who was a student went huh and then she said I’ll be right back. She left to go and get the doctor,” said Denise. 

The tech came back saying that she couldn’t get the doctor and told Geremia that she would need to come back for another ultrasound. Two weeks later Geremia hauled herself back into Calgary for another ultrasound. The tech did the test and then sent her on her way saying that her doctor would give her a call.  Geremia suffered another two weeks of stress before she finally got the chance to speak with her doctor. 

“What she said was the baby doesn’t have a stomach, both ultrasounds showed that he has no stomach so what this means is he probably won’t survive and all these things, and try not to stress out. Because of where we are in the pregnancy there’s a million reasons that this could happen,” said Geremia.

The doctor told her its impossible not to stress out but all she could advise was to try and calm down. When she was near the 18-week mark Geremia had yet another ultrasound, and finally she got some answers.  

“The reason that he had no stomach is because his stomach was on the other side, so if they look for it (in the right place) they didn’t see it, they say baby has no stomach instead of flipping (and looking on the other side),” said Geremia.

“They ended up finding the stomach, and then they found all of the other organs that they couldn’t find in the first place and they had the conversation with us saying, so your child’s insides are all flipped around.”

Lucas, who is now eight months old, has a condition called Situs Inversus, which is a congenital condition where all of the major visceral organs are reversed from their normal positions. The odds of having Situs Inversus Totalis, where everything is flipped, are 1/10,000. Lucas has Situs Inversus with levocardia, which is even more rare.   

“Lucas’ heart is on the correct side but his stomach is flipped around which is even more rare, so it’s 1/22,000 births,” said Geremia. 

If everything were totally switched, Lucas would have a 5-10 per cent chance of a heart defect. But because his heart is the right way Lucas had a 95 per cent chance of having a heart defect.  While pregnant, Geremia had an EKG to check his heart, and the doctors were able to determine that his heart is fine, which was a relief. 

“He doesn’t have anything, he’s perfectly healthy with just his insides flipped around,” said Geremia. 

The Geremias have decided they are not going to have any more kids. The pregnancy was too stressful, and there is also the fact that both of them carry the gene that caused the Situs Inversus. In order for it to be passed on both parents must carry the gene. If they were to have four children one would have nothing, two would be carriers and the fourth will have the condition. Only .01 per cent of the population has the condition, but often people won’t find out about it until later in life when they go to their doctor complaining about pain where the appendix should be, only to find out it’s not there. 

Geremia said she doesn’t know of anyone in her family who has had it, but unless you have had to go for an ultrasound it would not be found. 

Soon after he was born, Lucas had to have his first ultrasound so that the doctors could make sure everything was fine. That’s when they found another anomaly with him. Every one has an inferior vena cava (IVC), which is a large vein that carries deoxygenated blood from your legs up to your heart. It runs alongside the vertebrae on the right and enters the right atrium at the lower right, backside of the heart. Lucas’ IVC actually crosses from the right side to the left side of his aorta. No one knows what, if any, effect this will have on Lucas later in life. 

“They said the only place this could really affect him … is organ donations either receiving or giving, it won’t work. We’re just going to pray he has a normal, happy life,” said Geremia.