Author Archives: Angela Waits
Hyperammonemia is excess ammonia in the blood. It is important for the plasma ammonia to be drawn and handled properly. For more information, see CHECKAMMONIA.com
- Emedicine, Hyperammonemia
- Metabolic changes associated with hyperammonemia in patients with propionic acidemia.
ER dept letter
|Since Propionic Acidemia is rare and a lot of people and medical professionals have not heard of it, it is important to have a letter written by your doctor in case you are have to take your child to the emergency room. The following is a sample emergency room letter written by Dr. Barbara Burton. If your child has any additional diagnoses, they would also be addressed in the emergency room letter. We usually have several copies of the letter in different places (the car, diaper bag, school, care binder).|
The following labs perform testing:
Some reasons for referrals may include: confirmation of a diagnosis, carrier testing, genetic counseling, or prenatal diagnosis in at risk pregnancies. If you have a child with propionic acidemia, the risk of each additional pregnancy is 1:4 that the baby will have propionic acidemia. It is easier to detect PA in utero, when you know the mutation. You can also check siblings and other relatives to see if they are carrying a defective gene.
You can visit Genetics Home Reference for a glossary of unfamiliar terms:
Prenatal Diagnosis Links
Prenatal Diagnosis Papers
Comprehensive Newborn Screen Links
|Comprehensive Newborn Screening Links|
Welcome To Holland
Emily Perl Kingsley
©1987 by Emily Perl Kingsley. All rights reserved. Reprinted by permission of the author.
|I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
Travel and Lodging
|Transportation and Lodging|
Airport security guidelines for traveling