In honor of Rare Disease Day, February 29, 2012, I am going to be posting some of the things I have learned about different metabolic and rare diseases. Most of these things I have learned by talking to other parents of children with rare diseases or reading about them on some of the sites I have been to.
The first rare disease I will showcase is Glutaric Aciduria
GA1 effects about 1 in 40,000 children. It is a rare metabolic disorder, much like MSUD, in which the body cannot breakdown amino acids found in protein. In GA1, these amino acids are lycine and tryptophan(that stuff in turkey they say makes you sleepy). If you don't remember, in MSUD those amino acids are leucine, isoleucine, and valine. If these amino acids build up in a person's bloodstream they can cause brain damage or even death. Symptoms can include seizure, no appetite, vomiting, etc... What's difficult, is that even with perfect dietary management, a person can deal with the effects of GA1. Stress, childhood illnesses, not enough calories, teething, etc... can all cause levels to elevate. GA1 is often misdiagnosed as Cerebral Palsy or "shaken baby syndrome".
I am going to share with you a video that a parent posted to help teach about GA1. Dustyn was born with GA1 and this is his story:
You can also read the family's blog at http://rmdawareness.blogspot.com/
Wow I am so honored that you chose to showcase Glutaric Aciduria Type one. I google searched Rare Metabolic to see what was new out there and saw the Miller Family blog I said to myself I wonder how they are doing and noticed you wrote about GA 1 I was curios and when I clicked, this was what I found! Thank you so much for spreading awareness of MSUD and also of GA 1 This was such a nice surprise. <3
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