Caleb is going to be a big brother

Happy New Year from Caleb (30 months old)

Yes, we’re expecting another little one in our house in July 2012!

A few people have asked us if we’re concerned that our 3rd child will have blepharophimosis. Blepharophimosis is a genetic disorder, however, in Caleb’s case, it appears to be a de novo mutation, meaning a new mutation that was not passed along from a parent. There is no family history and therefore have no scientific basis to expect another child with the same disorder. But, having a child with a random genetic mutation does make you realize that it’s a miracle that any of us are born healthy. By the grace of God our new little one will be born without any difficulties.

Caleb is a chatterbox these days, sometimes going on with a commentary about everyone and everything that he sees!

In late November he gave us a bit of scare with a sudden onset fever followed by a febrile seizure. We had to call 9-1-1 because he was unconscious for some time. At one point was an interesting discussion with the paramedics about whether Caleb was conscious. Because of small eyes, they had some difficulty opening them to check if his pupils were responsive to light.

Caleb has his next check up with the pediatric ophthalmologist at Children’s Hospital at the end of January.

Explore posts in the same categories: blepharophimosis, medical genetics

One Comment on “Caleb is going to be a big brother”

  1. Gerry Biros Says:

    My step grandaughter has this same eyes issue, she has just had her 3rd eye surgery she will be 8 in Oct, this last surgery was performed by different Dr, and it is amazing the difference it has made in her appearance, her Mother has sinced pasted away, leaving her grandmother to raise her, now her father is my stepson, the family seems to want to point the finger at him for passing on the gene, so far everything I have read says that it could be passed from the dominent parent or passed from no one, to me it doesnt matter as long as she recovery’s without any issues.

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