My friend's daughter Sarah headed home from her 2+ month stay in the hospital. See her her link to the left.
The other bit of good news is our Christmas present has arrived...our laptop. I can now blog much more easily from home!
Wednesday, November 29, 2006
Adults Only
The adults had the chance to get out this weekend...although I think my Jeff and Rachel had the most fun!
Morgan & Rick; Rachel's own personal pitcher
Rachel, Chris and Jeff & Nadene
My Jeff
Morgan & Rick; Rachel's own personal pitcher
Rachel, Chris and Jeff & Nadene
My Jeff
Pics
Some pictures from the past week.
A woodpecker eating my willow; and the boys playing choo-choos
Ben & Austin handcuffed themselves, great use of Austin's police kit from Aunt Cindy & Uncle Andy
My littel Injun playing the organ
A woodpecker eating my willow; and the boys playing choo-choos
Ben & Austin handcuffed themselves, great use of Austin's police kit from Aunt Cindy & Uncle Andy
My littel Injun playing the organ
No more pie! Connor after his third piece on Thanksgiving! And celebrating Big Papa's 82nd b-day!
I See Dead People
Well, not me personally...but we think Connor might.
A few weeks ago Connor came home from Aunt Karen's house asking where Anna was. We asked if he meant Nana and he said 'No, Anna'. So I went to he school notebook to check his class list...and no Anna. We don't know an Anna, so we let it drop.
Last week he was at Aunt Karen's and was asking about Anna. My cousin Morgan asked him some questions about Anna, what color hair, glasses, how tall, etc. He pointed to a picture way up on a shelf and said 'Anna'. Now this picture had 4 people in it...none that Connor knows. So Morgan takes the picture down and asks Connor to point to Anna. He points to Karen's mother who passed away about 3 years ago...before he was born!
We are a little freaked out, but if 'angels' are watching over him...I am not one to complain.
A few weeks ago Connor came home from Aunt Karen's house asking where Anna was. We asked if he meant Nana and he said 'No, Anna'. So I went to he school notebook to check his class list...and no Anna. We don't know an Anna, so we let it drop.
Last week he was at Aunt Karen's and was asking about Anna. My cousin Morgan asked him some questions about Anna, what color hair, glasses, how tall, etc. He pointed to a picture way up on a shelf and said 'Anna'. Now this picture had 4 people in it...none that Connor knows. So Morgan takes the picture down and asks Connor to point to Anna. He points to Karen's mother who passed away about 3 years ago...before he was born!
We are a little freaked out, but if 'angels' are watching over him...I am not one to complain.
Tuesday, November 28, 2006
Genetics
It only took weeks of calling, but I finally heard from the genetics counselor last Wednesday...of course I was Christmas shopping in a crowded mall and had some hearing issues, but it was a good conversation. I think we are finally making headway.
Connor's testing for VLCFAD (very long chain fatty acid) was negative. We were pretty sure of this, but just wanted to cross it off the list.
We also discussed testing of Connor for Tuberous Sclerosis. The geneticist and I have been butting heads on this issue for 6+ months. I even have the neuro and developmental peds on my side. We know both Jeff and Austin have a mutation on the TSC2 gene....I am clear. Science has so far not proven that it's a disease causing mutation. Jeff is symptom free and has no outward clinical signs. However, I feel he should have a brain MRI and an ultrasound of his kidney, liver and heart just to make sure. It is VERY common for TS to go undiagnosed because symptoms can be so mild. Austin has no outward signs but has the IS and the brain lesion. Granted it's only one lesion. His ultrasounds were all normal at 24 months of age. But I feel like we should continue to do ultrasounds to be sure. Besides, the only drug that keeps his seizures at bay is a TS drug. A drug that a lot of doctors won't use unless they have already proven a person has TS and seizures.
Then we go further into Jeff's family tree and there are more family members with EEG abnormalities, possible seizures, possible narcolepsy and a great uncle with a brain mass. This brain mass is what interests me most. It appears on a CT scan as a mass of dead cells the brain has grown around. Since the beginning with Austin, before we even knew about great uncle's mass, they have said that Austin's brain will eventually 'grow around' the lesion. This sounds just too similar to ignore.
Now we move on to Connor who has PDD and no outward clinical signs. Mental impairments are a common factor for TS patients. I think the next logical step is to have Connor tested for TS. The geneticist disagrees. I feel even though science hasn't proven this is a disease causing mutation, that there will always be that first patient and that first case that proves a scientific theory...and while I know my family is one in a million, I didn't want to prove it this way. But I also don't think it should be ignored.
So moving onto my point. In the call with the genetics counselor, she said that the dev ped and the geneticist are meeting in early 2007 to discuss a few patients and in particular to discuss this TS testing with my kids. I am anxious for this meeting to occur. We have already scheduled our next appt for late January and hope Connor will be having the TS test done shortly thereafter. Until then, we'll keep waiting and wondering.
Connor's testing for VLCFAD (very long chain fatty acid) was negative. We were pretty sure of this, but just wanted to cross it off the list.
We also discussed testing of Connor for Tuberous Sclerosis. The geneticist and I have been butting heads on this issue for 6+ months. I even have the neuro and developmental peds on my side. We know both Jeff and Austin have a mutation on the TSC2 gene....I am clear. Science has so far not proven that it's a disease causing mutation. Jeff is symptom free and has no outward clinical signs. However, I feel he should have a brain MRI and an ultrasound of his kidney, liver and heart just to make sure. It is VERY common for TS to go undiagnosed because symptoms can be so mild. Austin has no outward signs but has the IS and the brain lesion. Granted it's only one lesion. His ultrasounds were all normal at 24 months of age. But I feel like we should continue to do ultrasounds to be sure. Besides, the only drug that keeps his seizures at bay is a TS drug. A drug that a lot of doctors won't use unless they have already proven a person has TS and seizures.
Then we go further into Jeff's family tree and there are more family members with EEG abnormalities, possible seizures, possible narcolepsy and a great uncle with a brain mass. This brain mass is what interests me most. It appears on a CT scan as a mass of dead cells the brain has grown around. Since the beginning with Austin, before we even knew about great uncle's mass, they have said that Austin's brain will eventually 'grow around' the lesion. This sounds just too similar to ignore.
Now we move on to Connor who has PDD and no outward clinical signs. Mental impairments are a common factor for TS patients. I think the next logical step is to have Connor tested for TS. The geneticist disagrees. I feel even though science hasn't proven this is a disease causing mutation, that there will always be that first patient and that first case that proves a scientific theory...and while I know my family is one in a million, I didn't want to prove it this way. But I also don't think it should be ignored.
So moving onto my point. In the call with the genetics counselor, she said that the dev ped and the geneticist are meeting in early 2007 to discuss a few patients and in particular to discuss this TS testing with my kids. I am anxious for this meeting to occur. We have already scheduled our next appt for late January and hope Connor will be having the TS test done shortly thereafter. Until then, we'll keep waiting and wondering.
Monday, November 27, 2006
A Glimpse of Austin
Jeff and I laughed hysterically when we saw this in Sunday's paper. It's not so much what he does, but his comment immediately afterwards.
Every time Ben or Connor comes running to us crying, we ask what happened and before we can get a response from them, Austin chimes in with either 'it was an accident' or 'it was a mistake'. This is followed by a stretch in time out for Austin. Because, throwing a truck at his brother's face, jumping on their backs, taking their toys and pushing them aren't what we consider accidents or a mistakes!
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