Monday, February 15, 2010

It's In Our Genes



Today was a pretty good day in the Morris household.


Seth had his monthly appointment with his PKU doctor, Dr. Matalon. We are so fortunate to finally have a great PKU doctor. They are few and far between in this area. This is only the second time we have seen him, but at our first appointment he decided to find out what mutation Seth had. Why did it take us 10 years to get a mutation? Again, we finally have found a great doctor. Anyways, there is a new drug out, Kuvan, which is the enzyme Seth lacks. However, Kuvan responds to only certain PKU mutations. Today, after 10 years, we finally found out Seth's mutations. One mutation is the bad one, the one associated with Classical PKU (R408W). But the other mutation is only a variant PKU (L249F). This is why Seth is able to process more protein than most PKU kids. L249F is a great respondent to Kuvan. This means that the older Seth gets, the more protein he will be able to process. Finally, in our crazy gene pool, something has gone right. Take that screwed up Morris genes!


Riley made a donation to Hope Hospice today. He had a "100 Day" project for school. He decided that he would collect 100 coins and give them to "the lady that played a game with him when Grey was sick" (the children's bereavement counselor) and "the lady that my mom talks to" (the adult bereavement counselor). I was so proud of him when he walked into their office with his bag of change. He has learned a lot through Greyson's loss. He is growing into such a caring, sincere, little man.



I am so proud of my boys! Sometimes I get too busy to realize just how lucky I am to have them, even if there are only 3 physically here with me. When I lost Grey one of my good friends told me that Grey would always be the whisper in their ear, helping them to make the right decisions. I guess she was right.

2 comments:

Texas Mom said...

What an awesome day! Thanks for sharing! I am soooo proud of Ry. Actually I am proud of all of you.

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