Today went really well. I am so glad we chose Saint Louis. They have a Down Syndrome Clinic that is amazing. All of our appointments are coordinated and right after the other. We never leave the room, the doctors come to us!
First, we met with a genetic counselor. She went over the karyotype results for Miss Ollie. We knew from her FISH test (a rapid results test of 100 cells) that Ollie has Trisomy 21. However, we didn't know what kind. That took a longer test that took about 2 weeks for results. There are 3 types of Trisomy 21. Ollie has the most common type, Nondisjunction. This means that every cell in her body has 3 sets of the 21st chromosome. This type of Trisomy 21 happens purely by chance, and isn't genetic. This extra chromosome is present at pretty much the first division of cells - it is an immediate thing. Now that I have Ollie, I don't think she happened by chance. She's a tiny slice of heaven that most people don't ever get the luxury of experiencing, she was 100% God's plan.
Then, we met with the head doctor that runs the Down Syndrome clinic. She looked Ollie over and thinks she's doing great. She had a concern because Ollie's hips "click" so she requested a hip ultrasound as a precaution. She thinks it's probably due to the low tone and loose ligaments common to Down Syndrome, but she wanted to be sure that was the case. I am not too worried about this, but I'm anxious to get the results. We will then revisit her in 6 months for a checkup, Thyroid check, & eye screening. I'm relieved about the eye screening with Aubrie needing glasses so young! Ollie also has very watery eyes, she thinks Ollie will grow out of this, but if not we can have an eye check in 3 months if needed.
After she was done we met with some people from the Down Syndrome Association - they are fabulous & wow it kind of makes me wish we lived even closer to St. Louis. They put on some amazing events, and fundraisers. Luckily, we are just close enough to take part in the future!
Then, in came our cardiologist. This was the first time we met Dr. Johnson. He was fabulous. He's quiet and kind of timid, but we felt very confidant in everything he had to say about our Miss Ollie. He was fabulous! He thought she looked great, and was happy with her weight gain - up to 8 pounds 2 ounces - can I get a woot woot? He wanted to do an echocardiogram to check her heart because the last one was right after birth, and things change as the baby grows. After the echo (which the tech today was amazingly accurate & fast) he discussed the results with us. Things pretty much look the same. The hole between her atriums is moderate, and the hole between her ventricles is large...the word large sucks. He felt she was doing really good, but perhaps is in the beginning stages of heart failure. He thought she was "tugging" a bit when she was breathing. In addition to this, yesterday she had an odd day. She was awake a lot and ate just about all day. Typically, it was just every 3 hours or so. Then during the night she usually wakes me up every 3 hours on the dot to eat. After 5 hours - I awoke in a panic & had to wake her up to feed her. We aren't sure if this is the start of heart failure - or just the result of a baby that played too much yesterday. So, he's starting her on Lasix once a day. This is a medicine that helps remove fluid, so if this is the onset of heart failure, it should help. We are to see him again in a month in Mount Vernon where he travels. It's a bit closer to home for us. If anything changes, we are to contact him and go from there.
Right now Dr. Johnson is guessing Ollie will have her open heart surgery at 4 months. That would be June-ish. I have a lot of emotions about the surgery. I'm excited that she will be fixed and will have a healthy heart. I'm so anxious to meet her post surgery personality - I've been told it's like a second birth. I am scared to death of the worst. I can barely think about what surgery day will be like without tears. The thought of her tiny body in the Cardiac ICU that we toured & having to leave her for 10 seconds to use the bathroom or God forbid leave for the night to sleep - gives me a belly ache. Some how it is the best & worst things you can imagine for your child - all rolled into one.
I have a lot of praying to do until June! I am very confidant and comfortable with our cardiologist & St. Louis. I need give my worries over to the Lord, and have faith that in time, everything will be OK. That by the 4th of July we will be celebrating bigger than we ever have before. God is good all of the time & he continues to bless my family time and time again!
PS - please say some prayers for our friends & their 10 week old baby girl, Ava. They are from our hometown & also in St. Louis today. Ava, has a heart cath tomorrow. Pray that this procedure is all that she needs, and pray for strength for our friends. This heart business is tough stuff, it takes grown men to their knees. Tomorrow is an everything in the world kind of day for them.
