Wednesday, May 21, 2008

Here's the scoop...

We had a busy day yesterday with a few answers and a bunch more questions.

We began by celebrating breaking through the sixteen pound mark.  Noah weighed in yesterday at 16 lbs 1 oz!  His little legs are getting chubby and his diapers are getting snug!

Then, we focused on the results of Noah's test for Alexander Disease.  Noah has a mutation on the gene associated with the disease but it is an atypical mutation.  It occurs in a different location on the gene and the doctors are unsure if this is what is causing the abnormalities in Noah's brain.  To solve this mystery, they collected blood samples from me, Josh, and Noah.  If Josh or I show the same mutation (and are obviously healthy), then it is not the likely cause of Noah's problems.  This would basically put us back at square one.  If, however, we don't show the same mutation, then the assumption would be that the mutation plays some role in the disorder.  So now we wait...

A crazy side story.  When our neurologist (Dr. Percy) got the results of the test for Alexander Disease, he took them upstairs to another doctor (Dr. Brenner) whose research focuses on the gene that causes the disease.  When Dr. Percy asked him to take a look at the test results, Dr. Brenner looked up at him in disbelief and said that he had heard about this child and had been trying to locate him.  Dr. Percy laughed and said, "Well, he and his parents are coming to see me tomorrow morning!"  I doubt that Dr. Brenner had any idea that we were as close as Tuscaloosa! 

The good news is that Noah does not show any of the classic signs of Alexander Disease... his head circumference is staying in the normal range and he does not seem to be losing any of the development he has already attained.  If it is Alexander, then it is a much less aggressive form and for that we are grateful.

The visit to the eye doctor was equally as eventful.  The ophthalmologist agreed that Noah's eyes had worsened since our last visit and that the eye crossing would not likely be corrected by patching or glasses.  So, our sweet little boy is scheduled for his second surgery in his first year of life.  It is an out-patient procedure that should have a fairly quick recovery time.  It is tentatively scheduled for June 13th.  We are nervous about the surgery, especially that the sedation would throw off the sensitive balance we have achieved with Noah's eating, but trust that the Lord has it all in His hands.  


6 comments:

Aaron said...

Deb,

Thanks for the update. Noah (and you and Josh) continue to be in our prayers; it is nice to know how we can pray more specifically. We think of you often!

The Wagners said...

Ditto, thank you for the update. And with June 13th being my birthday (Chris) you need have no worries about Noah's procedure. If only I could start counting backwards...

Blessings,

The Wagners

Bill and Melodie said...

I will be praying for Noah and his upcoming surgery. I can't imagine how stressed you must be waiting, waiting, waiting. If you ever ehad North to the HSV area, I would love to meet you and Mr. Noah!

Melodie

Jen(ni)/Fern said...

Yay! I am proud of you (and Noah!) for his weight gain. It sounds like you either have a lot of coincidence or a lot of God's guidance working in your favor, with the people you've ended up living near and running into. I'll be praying the eye surgery continues in this vein.

The Locke Family said...

Praise God for the good news on Noah's weight!! You guys will continue to be in our prayers, especially for the surgery and as you wait for more test results. We love you guys and miss you!

Ron said...

Hi. We met you at Midway in chicago today. We told our daughter about the conversation and it turns out our daughter reads your blog! Her husband (Joe McGill) plays in a band with Katie Mohr's husband Russ. Small world! Hope your trip hom was safe. We'll be following your blog.
Ron & Debbie Woods

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