Well it turns out that genetic in terms of Georgia can mean either 2 different things...

A) This is a "genetic" condition that my husband and I both carry a gene for and we have passed on to Georgia. That the chances of us passing on this condition are 25% to all our children.

B) This is a genetic condition described as "sporadic" - meaning, that a fluke or toxin or whatever...damaged one or more of her chromosomes....which caused her migrational abnormalities which we found on her MRI scan. The chances of a reacurrence are 1 in 1000 - same as with the general population.

The geneticist we saw was a WONDERFUL man who was kind and forthcomming and respectful of all my questions and what knowledge I do have....
He said that he thinks Georgia has scenario #B in the genetic question. He would guess that "damage" was done to one or more of her chromosomes thus causing the brain dysgenesis. That our chances of passing this on were 1 in 1000. He said that Georgia's brain abnormalities were mild on the spectrum of how abnormalities rate. He said that it would be foolish to try and guess whether she will have learning issues...but it is a great sign that her memory is so great and she understands abstract images. If he has to guess..he said that Georgia may be a hair whisper behind her peers in learning...but maybe not.

The Dr also noted that Georgia had a larger forehead and fuller eyebrows, and a "bulbous" nose....I asked if he would consider that "dysmorphic". He said that it could mean nothing...but there is a group of diseases called "storage disease" that have those symptoms inculding an enlarged spleen and liver (which her liver and spleen are normal)....and to be safe we should rule them out with a blood test. Now...this is important..I never really liked my nose...but Georgia clearly has my nose! And she clearly has my husbands eyebrows....and the forehead...well I have to look at Ryan's baby pictures again to be sure about his forehead...but nithing about Georgia's facial features are unusual to us..she looks like a perfect mix! 

Too bad Ryan worked that day. The Dr said the same thing....if they had been able to see Ryan, perhaps that was one more test we wouldn't have to worry about. The Dr said a storage disease was very "unlikely"...
But it was worth at least ruling out. The thought of that possibilty makes me feel sick inside. My gut tells me that this is NOT the case. 

Anyway...we also had blood drawn for chromosomal testing...to look at her chromosomes up close to see if everything looked normal - the basic 46 chromosomes and the XX. They are also doing a closer study on the chromosomes to make sure none of the chromosomes are slightly off..."tipped" is the word the Dr used. He said that the chances that we will actually see an oddity among her chromosomes is 5-10%. But that doesn't mean that it isn't there..we simply lack the technoology to look further.

We won't have the results back for "months"...how long that means...4,5,6 months...? They don't know. They will call us. 

They also asked if Georgia would partcipate in a study...as the Dr and his fellow are doing a study on the corpus callosum right now...The Drs thoughts on the corpus callosum and Georgia: He felt that certainly Georgia's brain has been rerouting. That most definitely it has  - but we just can't see it on an MRI scan. He also noted that he has seen children with the dysplasia of the cerabellum that do in fact have a speech delay. He felt that with Georgia's case, her speech delay was connected with the abnormalities. This is the only issue that he told me point blank, "concerned him". 

The DR went patiently through the details of Georgia's MRI scan with me and noted the areas and referred to them as "mildy abnormal".  He also said that Georgia's mild delay in myelination was not significant.

Geneticist's Prognosis based on Evaluation:

Bottom line: He said that he was concerned about Georgia's lack of speech and would keep an eye on that. He said that her issues were otherwise mild and expects her to fit right in with her peers. He said that she seems like a typical 2 year old cognitively, but made a hesistant guess that she may have minor learning issues. But quickly retracted and said that she may do very well. That he didn't know and would be foolish to guess at this point. He was impressed with her engaging personality and said she was age level emotional/social.... He said that I was doing everything right as far as giving her the opportunity to improve through therapy and play programs.

So - we wait for the blood results and watch her speech issue.

Genetic Blood Test Results:

The blood work all came back normal for lysosomal storage diseases type 1 & type 2....yea. It was highly unlikely but non the less very stressfull to wait.

Her chromosomes look normal as well.

Genetic Follow-up Appointment w/Geneticist Aug 25, 2003

We went to see the geneticist/neuro today again just for a discussion session & mini catch up evaluation on Georgia...

I hade my list of questions based on a lot of info I got here on the board etc...

So, I update him on Georgia's speech progress...a couple of spontaneous words. "baseball bat" etc..strange child..:)Of course he thought this was all very encouraging. We mainly talked about the small genetic details regarding Georgia and the technology of genetics right now. This I thought some of you would find interesting.

As Georgia's basic chromosomes look normal..that was to be expected as Georgia is pretty high functioning. With the "high resolution chromosomal test" he is looking at the individual chromosomes to see if the ends had "fallen off". Thus losing for example 1-8 individual genes..which would explain Georgia's cerebellum and corpus callosum dysgenesis and dysplasia. If we don't find that information..it is still considered sporadic. It's all a matter of time before technology catches up. And it will. By the time Georgia is of child bearing age...the Dr said that they will have that technology. That all of us here with children that are suspected of having a sporadic fluke will be able to access that info as adults if they choose.

He most defnitely thinks this is a sporadic fluke as the tail and the tip of the corpus callosum do not fully develop until later in the 1st triemster and the cerebellem dysgenesis indicates that at least a small part would have been able to form up until the 8th month and Georgia's DID NOT continue to develop. Thus, the sporadic fluke in Georgia's chromosomes would explain the follow through of the abnormalities...

The chances that this is a genetic recessive condition are highly HIGHLY unlikely..the likelood of this would be that dh and I are the only known carriers of a NEWLY discovered genetic condition that causes 2 small brain abnormalites...unlikely. As there is no known case like Georgia's ever.....one in a million child.

Otherwise..he said that it was unlikely Georgia would EVER have seizures..so to stop being on "seizure watch".

Georgia was able to point out several animals in the book we brought and dh and I felt relieved to impress the Dr with that...(that she understands)

As far as another baby he gave me a name of an OB trained in genetics at UCSF..she is considered a high-risk OB and we would have access to a higher level ultrasound.
He also gave me the name of a radiologist who will do an MRI of ME when I am pregnant with baby #2. That will give us an absolute answer given that we have the MRI done at the right time in my pregnancy...to see if this happened with baby #2.