D2HGA
D-2 Hydroxyglutaric aciduria
This is a very rare metabolic disease. There are less than 100 known cases worldwide. It is inherited, autosomal recessive, meaning both parents carry one of the genes. There is a wide range of "expression" of the disease varying from mild to severe phenotype. Some children are hardly affected whereas others die in infancy. It is also a degenerative disease, meaning "it gets worse" as time goes on. The rate of degeneration also varies.
Two of our children, Stephanie & Jack, have D2HGA. They are towards the milder end of the D2 spectrum. Stephanie has mild physical problems, with autism & low IQ. Jack seems a bit worse than her physically & we don't know how he will be mentally.
This page is is a very brief summary of the disease, mainly I want other parents with children diagnosed with D2HGA to find our yahoo support group.
http://health.groups.yahoo.com/group/D2HGA/
It can be overwhelming at times and the uncertainty of what could happen is frightening, but know there are others like you. Hopefully if your child has D-2- hyrdroxyglutaric aciduria you will find us somehow!
our Stephanie 
He's My Son Lyrics
» Mark Schultz
I'm down on my knees again tonight,
I'm hoppin' this prayer will turn out right.
See, there is a boy that needs Your help.
I've done all that I can do myself
His mother is tired,
I'm sure You can understand.
Each night as he sleeps
She goes in to hold his hand,
And she tries
Not to cry
As the tears fill her eyes.
Can You hear me?
Am I getting through tonight?
Can You see him?
Can You make him feel all right?
If You can hear me
Let me take his place some how.
See, he's not just anyone, he's my son.
Sometimes late at night I watch him sleep,
I dream of the boy he'd like to be.
I try to be strong and see him through,
But God, who he needs right now is You.
Let him grow old,
Live life without this fear.
What would I be
Living without him here?
He's so tired,
And he's scared
Let him know that You're there.
Can You hear me?
Am I getting through tonight?
Can You see him?
Can You make him feel all right?
If You can hear me
Let me take his place some how.
See, he's not just anyone, he's my son.
Can You hear me?
Am I getting through tonight?
Can You see him?
Can You make him feel all right?
If You can hear me
Let me take his place somehow.
See, he's not just anyone.
Can You hear me?
Can You see him?
Please don't leave him,
He's my son.
And finally with love........
.....to all of the children who have passed away due to D2HGA, it is with sadness we will miss you! Your time on earth was short, but your life in Heaven is eternal. You are so special & so loved. Watch over us & be special angels to our children!
http://www.youtube.com/watch?v=qG5UmahbKk0
bravenet.com