Friday, July 24, 2009

Roller Coaster Emotions

We found out yesterday that we DO NOT have INAD ruled out and William is still a strong candidate for it, as his symptoms are clearly indicitive of such a disease. We received the report in the mail and it said that the PLA2G6 mutation was negative in the blood stream, but this neither confirms or denies the evidence of INAD. I spoke with his doctor who confirmed that this just means the test cannot exclude the diagnosis because there are several ways that INAD presents and that particular method of testing only tests for one of them. The recommendation is to have a retinal exam and a T2-weighted MRI to look for optic atrophy and cerebellar atrophy, which are strong corroborative features of INAD. He has already had the retinal exam, which shows indications of INAD. Our next step will either have to be the MRI, which involves another surgery, or a nerve biopsy. I guess we will be discussing these things at Mayo and we are also staying in touch with the geneticist to see what direction to go.

I found all of this information out after coming home from completing my own ERG. William's geneticist recommended that I have it done because if he does have RPGR, which is an x-linked disease that I would carry and pass down to him, my retina would show signs of being a carrier. We were very excited after this test because my ERG was perfect and my retina showed absolutely no signs of carrying a retinitis pigmentosa related disease. That pretty much rules out the RPGR, even without receiving the results back from Manchester. Then we got home and received the report in the mail. It seems the last 18 months has been a constant roller coaster of emotions like this from the time he first developed RSV/Pneumonia, to finding out that he is deaf, to surgery, to realizing there is much more to find out.

The ERG was strange. They put electrodes on my forehead, earlobe, and in my eyes. The ones they put in my eyes were hard little gold-plated contacts with protrusions.

Then they flashed different colored bright lights into my eyes to examine my retina and see how long it took for my cells to regenerate. This is obviously an over-simplification of the whole process, but you get the idea. It did not hurt, but it was uncomfortable. I got sick at the end, but I think that had more to do with being so uncomfortable AND pregnant.

Thanks for checking on William and keeping him in your prayers. We remain constantly concerned for our dear little boy.

"In my distress I called upon the LORD, and cried to my God: and he did hear my voice out of his temple, and my cry did enter into his ears." 2 Samuel 22:7

Friday, July 17, 2009


We received the results of the INAD testing today - negative! Great news! Thank you all for the prayers! Now we can breathe a little easier while we are waiting another 3 weeks for the RPGR test results and Mayo.

"O LORD, be gracious unto us; we have waited for thee: be thou their arm every morning, our salvation also in the time of trouble." Isaiah 33:2

Saturday, July 11, 2009

My Hands are Full

We went swimming on Friday and had a great time. William loves the water. However, I chose not to try to waterproof his processor on this particular day for several reasons. First and foremost, MY HANDS WERE FULL!
Our grandchildren are staying with us for just over a week, so I now have 6 children in the house that are 4 and under. I just felt it was too much to try to keep up with such an expensive piece of equipment and so many little ones at the same time. At any given time I had at least 3 and usually 4 little ones that I was holding on to or giving dolphin rides to (that's what Hayden is doing in the picture above). It was so much fun!
You know, there have been many times when I've been out somewhere that someone will say to me, "Boy, you've got your hands full!" I always say, "No, not yet." I've always taken it as kind of a derogatory remark, like it was overwhelming or too much to keep up with or just too much period. But as I was looking back on the pictures of the day with my 13yo daughter, I was laughing at myself in all the pictures because my hands were literally always full! And as I was thinking about how much I love it being that way, I decided to change my attitude about that remark. My new answer is going to be, "I certainly do and praise the LORD!"
"Lo, children are a heritage of the LORD: and the fruit of the womb is His reward. As arrows are in the hand of a mighty man; so are children of the youth. Happy is the man that hath his quiver full of them: they shall not be ashamed, but they shall speak with the enemies in the gate." Psalm 127:3-5

Sunday, July 5, 2009


We had a great time with the children last night. They always enjoy fireworks. William even liked them, right up until one made a loud bang! Then he was done and ready to go in, along with Selah, who prefers watching from indoors.
"Blessed is the nation whose God is the LORD; and the people whom He hath chosen for His own inheritance." Psalm 33:12

Friday, July 3, 2009

Change of Plans

William playing on Mommy's computer

Sickness abounds in our home right now. Seems it usually hits with holiday fun! Elly has been sick since Tuesday, William since yesterday, and Wallace since last night. We chose not to drive for speech therapy today, but we did Skype (teletherapy) instead.
I decided to let William play on my computer (something I never do) before we met with Krissa, in hopes that it would warm him up to therapy. Fortunately, he woke up this morning with no fever (the other symptom, however, has been in full force all day - I won't gross you out with the details, but suffice it to say, I'm doing laundry like crazy).
He had a great time playing on my computer. He pushed nearly every button on the keyboard and I even let him touch the screen a couple of times (I know, I know). It was nice to watch him enjoying himself, especially since he's been so miserable since yesterday.

Therapy started out really great. He listened and even responded with some sounds.

About half way through, the fever kicked back in. You could definitely tell that William was done with therapy. I think, all in all, he did better this time than the last time. Maybe it will get even better. We're going to try it again on Monday.
Because of all the sickness all of our weekend plans have changed. Though I'm so tired that it doesn't make much of a difference to me, I feel bad for the children. They are troopers, though! Not one complaint. We have the most amazing, sweet children! They are just concerned about the babies. I really appreciate their thoughtfulness and unselfishness. We'll have to try to go play in the water after the little ones are better.
We found out yesterday that our grandchildren are coming to stay with us for a week! Very exciting! They are being relocated again soon (military), so they'll get to come for a visit before they move again. I'll be sure to post some pictures.
By the way, I have poison ivy. And it keeps spreading. Yuck! Why is it I get this stuff only when I'm pregnant?
"For a day in thy courts is better than a thousand. I had rather be a doorkeeper in the house of my God, than to dwell in the tents of wickedness." Psalm 84:10