Russell Silver Syndrome

Right after we got out of the hospital we went and saw a geneticist to see if their was a reason to why Kaylie wasn't able to gain weight. After a good hour and a half the doctor let us know that she thought she had Russell Silver Syndrome. Even though she does not have all of the symptoms she has a good 3/4ths of them. The downside to this is that you have to accept this through blind faith because you can not really test for it. Most of the time this test only comes back with 10% accuracy so you have to rule out what you know it is most likely not and then accept that this is the answer. The good thing is that she has a mild case.

The cause...the 7th chromosome. Somehow she either got two mommy genes or 2 daddy genes. Most likely this is why she was premature. Originally we thought it was me that caused her to struggle but it was the opposite. It is rare that it happens twice in a family so hopefully our next pregnancy will be uneventful.

Here is a link. Most of the kids you will see are severe. Their are a few that looked just like Kaylie when she was little. Now you could not tell because her hair covers up her fore head. When you look through this site make sure you scroll down and read the section titled:

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Characteristics Considered to Distinguish Russell-Silver syndrome Children From Other Small for Gestational Age Children

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and...

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Characteristics of Small for Gestational Age Patients in General That Are Seen More Often in Russell-Silver syndrome Patients

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She has many features in the first section but she has a good deal more in the second.

http://www.magicfoundation.org/www/docs/112.111/russell_silver_syndrome

In case you are wondering what all of this means here is a short summary...It will take a good amount of time to get some things worked out. It has been hard to figure out what is part of the syndrome and what is part of being a preemie. Things like the low immunity and chronic lung are from being a preemie. Things like her low muscle tone in her left side (for about 19 mths. we thought she had cerebral palsy), difficulty with feeds, digestion issues, delayed speech and many others are from the syndrome. Even though being diagnosed with a syndrome seems scary it is not. If this is what is going on we may finally have answers. In the end she will catch up with her growth to a certain degree by the age of six. Basically, the best part is that in the end she will just be short. It's not like I am the tallest one in the bunch!

I know it is weird but the first picture is of Kaylie at 7 mths/5mths corrected (duh) and the second picture is of another little girl that is on one of the sites. The picture of the little girl is the picture that made me realize Kaylie might truly have this. This child seems to have a mild case and has grown up to be a beautiful little girl. It helps you see the big picture.