On December 28, 2016, Mary Louise turned two. Today, for the first time, we received a diagnosis for Mary’s condition: Cardiofaciocutaneous Syndrome. We’ve been in a bit of a daze all afternoon.
If you’ve followed this blog much, you’ll know that we visited Cincinnati Children’s Hospital back in October for a slew of appointments and tests. During that time, we met with a geneticist who ordered a whole exome sequencing for Mary. They told us we could expect the results in December or January. They also told us that only 30-40% of kids receive a diagnosis from this test but that it is the best that genetics can currently offer. So we weren’t exactly waiting with baited breath. Hannah called their office today to see if the test was still being processed and, lo and behold, the results had come in last week when the office was closed. And they had results that pretty much explain everything!
We know that there’s a great deal of hard work ahead for us and for Mary, but we’re very grateful to God for this diagnosis. It gives us rails to run on. And, according to the genetic counselor, Cincinnati Children’s Hospital has just recently started a program for children with a related genetic syndrome. It sounds hopeful that Mary could be treated in this clinic as well.
God has been gracious to us. We’re very thankful for the major advances in genetic testing that brought us this answer. There are just a few hundred individuals worldwide with this diagnosis, and so it also means that we will likely have the opportunity to connect with other families caring for children with CFC.
To close, let me Google that for you:
As always, thank you so much for your prayers and your love! We couldn’t have made it this far without all your love and support.
How do you do, Miss Mary Lou? 
Thank you for sharing. I know this is a tough road to travel, but the Lord blesses and carries us through all the toughest of times. I’m glad you at least have a diagnosis… there is certainly comfort in “knowing” and having an explanation and a way forward. Blessings to you all! Jana
LikeLike
Dear Lucas and Hannah,
What a mixed bag of emotions you must be feeling. So glad they have finally been able to figure out what’s going on, but also realize there’s a tough row to hoe ahead. But God is good – all the time – and will keep you all in His hand through the process. Mary’s a doll. Love the post of her clapping, talking, etc. She is such a sweetie. We love you all and will pray for the Lord’s strength to be with you.
Carole & Dave
LikeLike