Skin sample, done! Tuesday I took Katie in to TGen to get a skin sample. It wasn't as bad for her as I expected but she did fight a little bit, mainly because three of us were holding her down. It was very quick and when we stood her up she went directly to each person in the room and hugged them. Awww! So cute! Pretty much at all of the doctor's appointments she is screaming and kicking and even spitting sometimes, crazy! So it was really nice to have them see that yes, she really is a nice, sweet, hugging kid.
So now we wait. Tick Tok Tick Tok. TGen will grow this skin sample for a few weeks, divide it up and send most of it to Northwestern University, to a scientist who has done a lot of research on mutations on this specific gene. I am not clear as to what happens once it is there but I think the goal is to see if this mutation does affect Katie or not, and see if there is anything that might help her. I am hoping this is the goal. Could be a year or so before we hear anything but maybe not.
Where this mutation falls on this gene is very rare, so rare that Katie would be the only know human to have this specific mutation. Well, Katie and a mouse model named Lurcher. Ha ha, Lurcher! I love that name! I think this means a group of mice. Here is part of the scientific info I received in an email from the nurse Keri, at TGen regarding all of this:
"To date there are no kainate receptor mutations described in the literature. He feels like Katie’s would be the first and therefore it is quite significant. He says that the amino acid (this is referring to the protein) change that Katie has is very important and has been identified as critical for ionotropic glutamate receptor gating. It was first described in a Nature paper in 1997 as the causative polymorphism in a mouse model known as Lurcher (attached as Zuo 1997). Lurcher mice have ataxia and a quite severe phenotype due to the same mutation, A-T, at the analogous site in a related protein known as the delta2 subunit (Grid2 gene), which is expressed almost exclusively in the cerebellum. He says it’s clearly an important amino acid that when mutated has a profound impact on receptor function and, apparently, human development and cognitive health.
He feels that it would be useful to report Katie’s case in some form, and that he might be able to add a little to the story with some analysis of receptor properties. He feels that the primary point would be getting this information out to the scientific community."
Lots of science jargon, I get the basic idea. I wish I understood it all very clearly because it fascinates me. Hey, it's my kid! And I really am no dummy - I actually worked at Mayo as a Cancer Research Coordinator so you'd think I'd be on top of this. Ahhhhhhh, well a B.A. in Psych is no science degree...
We saw the geneticist Dr. Pearson recently and she said that if it turns out that this mutation does not affect Katie at all (we'd be back to knowing pretty much nothing) not to worry. Right now they can only look at about 3% of a person's genes, but in the future (I am thinking 5 or so years) we will be able to look at ALL of them. So I have hope that if this GRIK2 mutation isn't affecting Katie, we will find out one day what is. Ok I need some coffee, until next time...
So now we wait. Tick Tok Tick Tok. TGen will grow this skin sample for a few weeks, divide it up and send most of it to Northwestern University, to a scientist who has done a lot of research on mutations on this specific gene. I am not clear as to what happens once it is there but I think the goal is to see if this mutation does affect Katie or not, and see if there is anything that might help her. I am hoping this is the goal. Could be a year or so before we hear anything but maybe not.
Where this mutation falls on this gene is very rare, so rare that Katie would be the only know human to have this specific mutation. Well, Katie and a mouse model named Lurcher. Ha ha, Lurcher! I love that name! I think this means a group of mice. Here is part of the scientific info I received in an email from the nurse Keri, at TGen regarding all of this:
"To date there are no kainate receptor mutations described in the literature. He feels like Katie’s would be the first and therefore it is quite significant. He says that the amino acid (this is referring to the protein) change that Katie has is very important and has been identified as critical for ionotropic glutamate receptor gating. It was first described in a Nature paper in 1997 as the causative polymorphism in a mouse model known as Lurcher (attached as Zuo 1997). Lurcher mice have ataxia and a quite severe phenotype due to the same mutation, A-T, at the analogous site in a related protein known as the delta2 subunit (Grid2 gene), which is expressed almost exclusively in the cerebellum. He says it’s clearly an important amino acid that when mutated has a profound impact on receptor function and, apparently, human development and cognitive health.
He feels that it would be useful to report Katie’s case in some form, and that he might be able to add a little to the story with some analysis of receptor properties. He feels that the primary point would be getting this information out to the scientific community."
Lots of science jargon, I get the basic idea. I wish I understood it all very clearly because it fascinates me. Hey, it's my kid! And I really am no dummy - I actually worked at Mayo as a Cancer Research Coordinator so you'd think I'd be on top of this. Ahhhhhhh, well a B.A. in Psych is no science degree...
We saw the geneticist Dr. Pearson recently and she said that if it turns out that this mutation does not affect Katie at all (we'd be back to knowing pretty much nothing) not to worry. Right now they can only look at about 3% of a person's genes, but in the future (I am thinking 5 or so years) we will be able to look at ALL of them. So I have hope that if this GRIK2 mutation isn't affecting Katie, we will find out one day what is. Ok I need some coffee, until next time...
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