12 October 2010
We know a little more on Bug's Medical Condition
Last week we visited another Geneticist and he has informed us that in August of this year that scientist have isolated the gene that cause Kabuki Syndrome. The conclusion is that Bug does not or even have some variation of the syndrome. I am very relived that I can cross that off my mental concern list!
The Dr. does feel that Bug is effected by some disorder, which is what we must call it at this point. When more people are identified with this deletion in their chromosome we then call it a syndrome. The reason for this conclusion are that Bug does have some dysmorphic features, knowledge of some of the basic family history on the maternal side, and her developmental delays with other odds and ends our the reason for some unknown rare disorder. We are know told to tell other specialist and anyone else that she has 20p12.1 disorder. Sounds a little silly and I am sure the average person will give me a confused look!
The Dr. suggested that we continue doing what we are doing at the this time. Which is making one more round of the specialist due to her age as it is a good time to gather a more accurate data on her.
He suggested that we sign up for Unique, which is a support group for parents and patients with rare chromosome disorders. With the hopes that it will open the door to find others with the same deletion. Most geneticist search this site when they have no information on others with a rare chromosome disorders. The Dr. informed me that he has heard of stories of someone putting their info. on the data base and all of a sudden other's with the same chromosome disorder come out of the wood works and you now have a syndrome. It could also be that maybe in the tweens of this disorder that some more complicated issues develop and the geneticist start searching for others with the same deletion and then more can be known. Then their is a chance that we may not find out anything until Bug's has great grandchildren and they have the disorder. She has a 50/50 chance of passing it on to her children.
I am still waiting for the other testing information to come back. Till then have a blessed day.
The Dr. does feel that Bug is effected by some disorder, which is what we must call it at this point. When more people are identified with this deletion in their chromosome we then call it a syndrome. The reason for this conclusion are that Bug does have some dysmorphic features, knowledge of some of the basic family history on the maternal side, and her developmental delays with other odds and ends our the reason for some unknown rare disorder. We are know told to tell other specialist and anyone else that she has 20p12.1 disorder. Sounds a little silly and I am sure the average person will give me a confused look!
The Dr. suggested that we continue doing what we are doing at the this time. Which is making one more round of the specialist due to her age as it is a good time to gather a more accurate data on her.
He suggested that we sign up for Unique, which is a support group for parents and patients with rare chromosome disorders. With the hopes that it will open the door to find others with the same deletion. Most geneticist search this site when they have no information on others with a rare chromosome disorders. The Dr. informed me that he has heard of stories of someone putting their info. on the data base and all of a sudden other's with the same chromosome disorder come out of the wood works and you now have a syndrome. It could also be that maybe in the tweens of this disorder that some more complicated issues develop and the geneticist start searching for others with the same deletion and then more can be known. Then their is a chance that we may not find out anything until Bug's has great grandchildren and they have the disorder. She has a 50/50 chance of passing it on to her children.
I am still waiting for the other testing information to come back. Till then have a blessed day.
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Hmmm...kind of a mixed bag of news. I did have to chuckle at his comment that she has some type of disorder....obviously. :)
ReplyDeleteAnd the number thing might work with specialists, but not for the rest of us.