Monday, April 19, 2010

The Official Face of MCAD


We got confirmation today on the type of MCAD that Madisyn has. It's the Classic form which means that she has two mutations of the same gene. I was devestated even though I knew she had it. You can't tell that she has the condition just by looking at her, in fact, no one will ever be able to tell as long as we keep managing the condition. I thank Heavenly Father every day for living in the time that I do where we have the medical knowledge to help my baby. We found out she had the condition from the Newborn Screening the state does. I also found out that Newborn Screening is not something that every state does. The state of Utah only started testing for the 29 different genetic conditions two years ago, before that they didn't. I read a bunch of inspiring stories of people who fought for these tests in the United States and over seas. The March of Dimes is actually key in helping legislation get passed in other states so that this test is required. It saves so many lives when you get a diagnosis early and can manage these conditions. Much of the reasoning for these tests is because of parents who lost their children to conditions that could have been managed with something as little as a change in diet but weren't given the opportunity because these tests were not available. There are many states that still do not offer these tests, places like Arizona do not think it necessary. No child should suffer and die for something that can be managed. I urge you all to support the March of Dimes in their fight to get every newborn child screened for these conditions. It saved my daughters life, maybe it will save yours as well.

2 comments:

Michelle said...

Love the picture! So how mild does this mean her case is?

Amber said...

Not so mild. it's the most severe form known right now; but we're managing it.