Thursday, October 30, 2008

Halloween Fun

The night was warm for the end of October -- layers all around. I lit the pumpkins, got the candy out and dressed up the munchkins. Zachary was our spiderman (for the 2nd year in a row), Madison was the cutest lady bug around and Ash was a football player (got ready at a friend's house, didn't get pictures). We promptly left the house at 6pm and went to about 20 houses before the cold set in. By the time Daddy got home the kids were freezin' and ready to eat their candy. So Mike took Madison to four more houses and we called it a night!

Tuesday, October 21, 2008

October 21 -- Madison Update with Neurology

Hi everyone -- our neurology appoint with the head of Cincinnati Children's hospital was moved up from January to yesterday. We were there close to 4 hours. We like the Dr's bedside manner and he was well informed. He doesn't believe that Madison has the febrile seizure PLUS syndrome (but we will have a blood test done). So we are now going to do an sleep deprived EEG, have an MRI with dye (more more advanced technology) conducted, lots of bloodwork done (they took 7 vials from her yesterday -- she was a trooper)....and thinking about putting her on Depakote (eplipsey medication)....if we do that then she will have to be on it for 2 years.....he told us that this medication would prevent her from having febrile seizures....first doc to tell us that....he also mentioned that she may have a mitocondria disease call Alpers (see below) the time we thought ok, well it must be better than the PLUS seizures....and you only get so much time with the doctor so we continued down our list of questions. Lastly, he talked about putting her on a ketogenic diet or a modifed Atkins diet....looked into that too and that is so severe....

Then last night when I sat down to research what we talked about I was hit hard with the reality of what Alpers is.....needless to say Mike and I are a bit shell shocked....he is trying really hard to keep me once again any prayers you offer up (because I can't right now....I am so angry and sad)....would be great! I will continue to keep u updated.....

Alpers’ Syndrome is a disease of the brain and liver. There are 3 classical symptoms of Alpers’ Syndrome. These are: 1) seizures that are very difficult to treat and have a focal component, 2) episodic psychomotor regression or dementia (loss of developmental milestones, often associated with common childhood infections), 3) liver disease. The children are born and develop normally for a period of time in virtually every case. Symptoms begin between the first few weeks of life and about 25 years of age. Two-thirds of the cases begin to show symptoms of seizures, or episodic loss of developmental milestones, within the first 2 years of life. The liver disease is often subclinical in the early stages of disease, but can appear at any time as acute liver failure.
Alpers’ Syndrome is a recessive genetic disease with a frequency of about 1:250,000 (it is acutally 1:40,000) live births. Many cases die before an accurate diagnosis is made, so the true frequency is still an estimate.