First off, Nicole's chromosome test showed that she does not have Turner's syndrome, which is good. After seeing Nicole, the geneticist, Dr. Carey, was very convinced that Nicole and Vanessa have the same form of dyslasia; Nicole's being slightly more sever, but only because of her club feet. All forms of skeletal dysplasia exist on a spectrum. It is most likely that our girls are on the mild end of the diastrophic dysplasia, which borders on recessive multiple epiphyseal dysplasia.
Basically, that means that other than Nicole's club feet, both girls will just be short (but proportionate). The root of this form of dysplasia is found in the DTDST (or SLC26A2) gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage, which becomes bone. Mutations within this gene cause the bone abnormalities which are characteristic of diastrophic dysplasia (and also causes club feet).
Because this condition is inherited in an recessive manner, our children will have a 25% chance of being affected, 50% chance of being asymptomatic carriers, and a 25% chance of being unaffected non-carriers. Knowing that two of our girls have this also confirms that Lisa and I are both carrying a single copy of the disease-causing mutation.
In order to confirm that this non-official diagnosis is correct, we will have Nicole's blood sequenced to find the mutation. This will give us accurate expectancies for adult height, rate of recurrance in future children, and so forth. As a rough estimate, Dr. Carey said if Vanessa follows her current growth pattern, her adult height will be about 5'-5' 1". He did say that there is a possibility for growth hormones down the road, which have been shown to boost growth by up to 5 or 6 inches.
As it stands, we couldn't be happier with our two beautiful girls. Despite their small stature, they are larger than life! They bring us so much joy, and keep us on our toes. Here's a recent shot of me and the girls. Vanessa hasn't quite figured out how to share her Daddy...and I don't think I've quite figured out how to say "I can't hold you right now" to that cute little face.
6 comments:
WOW...that was one very intellectual post...WOW!!! It's pretty interesting though...and regardless of all that...you're right, you're girls are beautiful and so fun!!! You and Lisa are great parents, and will make the best of whatever you get!! Good job!!
Good job at getting all the info into an understandable post! I'm happy that you have a diagnosis and can now know what to expect in the future for the girls. They are such darling, sweet and fun girls and I'm sure they will have wonderful happy lives! See you tomorrow!
What a relief it must be to put a name and a cause to everything! You guys really do have two of the cutest girls (I have the other one!), and there isn't anything wrong with being short... especially only being 5 ft (errr ummm, 4'11 1/2)
Well that's good news for Vanessa...I am 5'1..it isn't so bad..especially if she marries a man that is 6'4 like I did...he can get everything off the top shelves for her and all will be good :) Do ya'll know yet if this has anything to do with the sex of the baby? Like if you do have more children would a boy be just as likely to have it as your girls? Lisa, did you find out if anyone else in our family has this?
Good luck with everything and thanks for keeping us posted. I'm glad to hear both little ones are happy and healthy. We miss you guys!
Oh, what great news! I'm so glad that you guys finally have some answers! What a relief. 5' 1" is a great height. Autumn is 5'2" and I was always jealous because she was so cute and petite!
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