Where we are so far...

Hey All, 

Thanks for visiting this blog for updates on Lucas' arrival.

At the request of some, I will be posting with a summary at the top that you can read simply to be caught up with updates, then below I will go into more details for those who are interested. ☺

Summary

We took a genetic test early in the pregnancy that came back positive for Down Syndrome and we also found out the baby is a boy, we're likely going to name him Lucas. Since then, I have had several ultrasounds that confirm the diagnosis, although it won't be an official diagnosis until they can test his blood when he's born.

He currently has a few heart defects that can be summed up as some holes in his heart and a valve that isn't correctly formed.

Details

We took a MaterniT21 genetic test early on in the pregnancy which screened for genetic conditions with the baby and would also tell us the gender. I believe I took this test with Natalie, and my Midwife called me with the results letting me know it came back positive for Trisomy 21 which was Down Syndrome.

Perhaps I'll do a post about the journey from then on, but for now to catch you all up. It was clear to me and from my care team that the ultrasounds are consistent with that diagnosis. Femur measurements & heart defects are very consistent with Down Syndrome. As of right now I am 29 weeks along. I have been referred to the cardiology department where I've seen 2 cardiologists at the Children's Hospital location down in Federal Way. I just completed my 2nd echo cardiogram on Lucas on Friday, January 26th. Here is a summary of the issues and degree of concern there might be attached to them as I understand so far. Some of you have wanted some detail so you can keep him and us in your prayers. 

Moderate Concern while he's in my belly:

His heart has a VSD - A ventricular septal defect (VSD) is a hole in the heart that's present at birth (congenital heart defect). The hole is between the lower heart chambers (right and left ventricles). It allows oxygen-rich blood to move back into the lungs instead of being pumped to the rest of the body. This is actually not of too much concern while he is still in my belly because he isn't using his lungs yet.

His heart also has a ASD - A defect in the septum between the heart's two upper chambers. Also of mild concern while he is in my belly because of the way the blood flows before he's born. He can also go to term with these two defects as long as we keep monitoring them.

His heart has a Atrioventricular canal defect means he has a hole in the wall separating the heart's chambers and problems with the heart valves. The cardiologist says that currently it is balanced so that's good news. If it was imbalanced then the blood flow is always only going to one side of the heart and would be a problem.

All these heart defects can be repaired in surgery which we'll expect him to have around 4 months old. The Canal defect being the most difficult to repair.

Potentially Severe concern:

When they went in for the 2nd echo cardiogram on 1/26 they also found some fluid between the lining of his lung and his chest cavity that wasn't there before. I currently have an ultrasound scheduled for Tuesday 1/30/24. They will look at this and will most likely need to keep monitoring me weekly to keep an eye on the fluid build up because that could cause me to need to deliver early to ensure the baby's survival.

Small Concerns:

There are a few other small concerns, his belly has been measuring small which could be for numerous reasons they aren't concerned about, and his right kidney looked dilated which they'll just keep an eye on.

So right now, I am anxiously awaiting this ultrasound with Maternal Fetal Medicine to see what the extra fluid might mean or might be from. Thanks for reading and I'll update after my Tuesday appointment.

Thank you for being a support and keeping myself, Lucas and my family in your prayers as we navigate the rest of my pregnancy.