Ectrodactyly

We haven't yet mentioned it on the blog, but Rua was born with a condition called ectrodactyly. It's a rare condition, happening in just about 1 in 90,000 babies. We don't have many specifics yet, as we are still waiting to meet with an orthopedic specialist to learn more about Rua's individual case. Here is an email Eric sent out to family on October 9, a few days after she was born (the pictures are all from those first few days too).   

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We thought it would be nice to send out an update on Rua. She is wonderfully healthy, and checked out well by both the pediatrician and the nurse home visit this week. So far she has astounded us with her ability to sleep and her calmness when awake. It is nice, and we are crossing our fingers that it doesn't change (not that we don't like the fussy babies too). 

She was tongue-tied when born, but thankfully we were able to identify it immediately, and the pediatrician clipped it on Monday (the day after she was born). Her nursing seems to be improved already, and hopefully it keeps getting better.

Rua was born with a condition called ectrodactyly (in my Sunday email I called it syndactyly, which is more common and different). Only 1 in about 90,000 babies are born with ectrodactyly, and it is most commonly hereditary but we don't know of anyone in our family that has it. In Rua, it affects both of her hands and both her feet. We've attached pictures for you to see. Rua's right hand and right foot appear to be classic ectrodactyly, where her right hand is missing two of the middle fingers, and her right foot is missing the three middle toes. Ectrodactyly is also sometimes called split hand foot malformation (SHFM). Her left hand appears to have all five fingers, but the thumb and index finger are fused all the way to the tip and the ring finger and pinky are partially fused. Her left foot also appears to maybe have all five toes but the three middle may be fused together. The malformation happens at 6-7 weeks gestation when the fingers are supposed to form but in some cases don't.

We don't have a lot of information right now, but we'll be meeting with an orthopedic specialist in the coming weeks and probably also a geneticist to learn more about it. They'll do x-rays to look at the bone structure, and also probably chromosomal tests to see if it is related to anything else. Right now, from our observation, it appears to only be her hands and feet that are different. We're not sure what this means down the road. Most of the malformation's will probably be with Rua for her entire life, but surgery may be a possibility to correct some of it or increase some functionality depending on what the specialist sees possible.  

Of course, we think she is absolutely adorable and are loving every bit of her. We are very hopeful for her and know she will do great, but we also realize it will be a challenge for both her and us at certain times. We can't wait for you all to meet her, but for now you'll have to be satisfied with pictures. We'll keep you updated as things go along.

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We are still waiting on a couple of things to meet with the specialist, but hopefully we will be able to get an appointment soon so that we can have some idea of what we have ahead of us. But for now, Rua is just a normal, adorable, occasionally fussy baby who we absolutely love.  I don't even remember most of the time that there is anything different about her.