Saturday, August 6, 2005

When I arrived at Jacob's bedside today, Dr Avila was there reading over all the documentation that Dr Jacob provided for the Hyperexplexia test. He was in awe of what he read. He thinks we might be on to something & reassured my initial reaction, that yes, we need to have this test done. Aside from the physical features that match this test, there is something that has come back as abnormal in his blood that also plays a factor with this disease. Could we really be on to something here? My only hope is that the test yields a positive result & is the 'sporadic' version vs. the hereditary version. Dr Avila also interpreted the information as I did, in that it appears that this disease only affects the first 1-2 years of life & the children are normal. Yes, there may be developmental delays, but they are by far, mentally retarded or anything of that nature. I can only pray that God will bless us with this & finally provide an answer.

There is another disease that the pediatric neurologist would also like to test at the same time, Coffin-Lowry Syndrome, that he informed us about yesterday. Dr Avila stated that the difference between the 2 Syndromes is 1) Coffin-Lowry is prone to have seizure activity (more so then Hyperexplexia) and 2) instead of becoming stiff later in life sporadically, the patient becomes floppy. While I didn't get the chance to read the information about this disease at the hospital, I started doing some research on the internet last night. From what I can tell, this disease doesn't match up at all in either case, so I'm a bit perplexed. Maybe the documentation that is at his bedside will help me understand why they feel Jacob fits this profile.

I gave him a 2nd bath today while Amanda was there. He woke up & not only did he pee all over his bed before his bath, he proceeded to poop all over the towels afterwards...and as I put his fresh diaper on, he decided to finish the job. However, in case you were wondering, he didn't get me at all.

Amanda is such a proud big sister. She was very excited to see him again & yes, the first words out of her mouth were "Handsome Boy Mommy"...that's my girl!!

As for Jacob's progress today, he had multiple alert times & tracked voices very well today. Things are for sure looking up.

Overall Status: Good Day
Visitors: None

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