Meet the Kramlik Family
Hello! We are the Kramlik Family. I am Sarah, my husband is Mate and our son is Thomas. We were one of the fortunate families to know that Thomas was going to be born with BWS. It was at our 22-week ultrasound that they suspected something was wrong. Thomas was an IVF baby and it is common to have an additional ultrasound around the 22-week mark to check their hearts. Our previous 20-week ultrasound went smooth and everything had looked great.
We weren’t concerned at all going into this ultrasound. It just was another chance to have a look at our sweet baby. When we were taken into another room after our ultrasound I knew that something wasn’t right. The Doctor at first thought it was something with Thomas’s bowel which could be a sign of Down Syndrome or Cystic Fibrosis. We had done genetic testing on our embryos during the IVF process so deep down I knew that it couldn’t have been one of these things. (Thomas was our seventh embryo and our fifth embryo transfer, we had done genetic testing on our final round of embryos to give us our best chance of conceiving.)
We met with a Genetic Specialist and did further testing to try to figure out what was going on. While we waited for results we went in for another ultrasound. At this one, it was noted that my fluid level was rising and Thomas was growing rather quickly. The Doctor that we met this time believed that Thomas could have BWS and said that the only way to know for sure was to test him when he was born. We could have also done an amniocentesis, but that would not have been a 100% guarantee answer.
Learning what BWS life will be like
The Doctor had given us a print out of a clinical write up on BWS, I think we each read a few pages and then turned to Google. I remember thinking about how we would have to do bloodwork and ultrasounds. Sounded like no big deal and a piece of cake. Wow was I wrong!
My pregnancy was pretty “normal” aside from the extra monitoring. I had more ultrasounds to measure Thomas and my fluid levels on a monthly basis, but that was all. I did end up in the hospital and the goal was to make it to 36 weeks…I made it 34 weeks and 4 days. Thomas was due February 16th and was born on January 9th weighing 9lbs 12oz. We spent a total of 17 days in the NICU where Thomas learned how to eat from a bottle. He did get daily sugar checks, but those went from every time he ate down to once a day and then stopped. An ultrasound was also done to check his organs and bowel, and nothing was wrong.
Perfect despite his diagnosis
We had the shortest meeting with a Genetic counselor and were basically handed a packet of information and told what type of BWS that Thomas had. He has IC2 Loss of Methylation. He was blood tested the day after he was born and it took less than a week for the results to come back to confirm. It was a very surreal moment, but I remember just being so happy that he was here and healthy.
I had our State Health Services to do an evaluation on him while we were still in the NICU and we were approved for assistance when we were released. He started with Physical Therapy and now is in Speech Therapy but will be graduating from this program and will start with our School District in January.
Writing his own story
Thomas will be 3 in just a few short weeks and looking back on where we started to now I am amazed at our trio. Thomas is doing so well, we have been blessed with clear scans and great AFP levels. I am praying that all continues to go well and we only have four more blood draws to go. After the very first one I made a chart and counted out all of the blood draws and ultrasounds that we would have to have. It feels so good to cross one off each time we go and get good news. Sometimes it is the little things that get you through. It also helps to be able to connect with others who are also going through this. Which is why I wanted to share our story. Each BWS baby is special and unique and has their own story.
This diagnosis can be scary and feel isolating, but when you find your community no one can lift you up as they can. They know what it feels like to be anxious and scared and think you can’t go through one more thing. If you ever feel this way please reach out, I am more than happy to listen.
Live Large & Stay RARE.