Some of you guys may be aware of some concerns we have had with my son since he was little. He was speech delayed until last year and has always seemed to stay sick. Since I graduated from nursing school I have been working for a pediatric office so I have had the chance to have wonderful Drs taking care of him. So he had his 3 year check-up a few weeks ago and my Dr heard a heart murmur which had been undiagnosed for the last 3 years of his life. We have since been set up with an appointment to see a cardiologist to rule out any complications. We would normally just watch him as he grows because he shows no signs of trouble from it. However there has been some question brought up about him possibly having a very rare form of down syndrome so not only have we been set up with the cardiologist, we have also been set up with a geneticist! I found out today that his appointment for that is April 6th at 9:00am. So please be praying for him. It's a lot of blood work and months of waiting on the results.
So what is Mosaic Down syndrome..... like I said it's a very rare form (only about 4% in the world of people who have downs have this form) and unlike regular down syndrome that has an extra chromosome on every strand of dna, mosaic children only have an extra one on certain strands. Therefor it's very hard to diagnose. Children can show a wide range of symptoms from pretty much nothing but a few features to being full down syndrome. It is questioned in Van because of his speech delay and the shape of some of his facial features (although we feel he looks similar to my brother) and now the latest the heart murmur. With all downs children they can have major heart issues. Mosaic children also tend to have higher IQs since all of their genes aren't effected by the mutation. The heart condition is the only reason I have agreed to go ahead with the testing but please do pray for him. I know my child is perfect and no matter what label is put on him he will always be that way! I will update in a few weeks on this once we have had the appointment and know more about what's going on and what they are thinking. Please pray it's nothing though!
Subscribe to:
Post Comments (Atom)
We all know your child is perfect, and if a label is put on him, it's only Gods way of making him even more special and perfect. We will be praying for him, and his strength as he has unfun tests run but also for you as you too will be faced with the unfun. Give him hugs from Aunt Kristi and Britt and Matt!!!(LOL) Love ya.
ReplyDelete