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).

Emergency Room Letter Submitted by Dr. Barbara Burton

Clinical Testing

Clinical Testing

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:

Genetics Home Reference Glossary

Prenatal Diagnosis Links

Prenatal Diagnosis Papers

Holland

Welcome To Holland
by
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.

Tips

Tips from Parents and Caregivers
We will continue to add to this page based on input from the Email Discussion list.  If you are not currently on the Discussion List – please join us.

Things to keep in the car:
In case of vomiting:  Country Crock  margarine containers (or other); emi-bags, zip-lock bags, bowl – Jen
Leather upholstery is worth the cost. – Brittany and Jill
An extra g-button and g-tube supplies – Jill
A first aid kit – Jill

Night Feeding:

Put an ice pack in a ziplock bag and tape them to the outside – Jen

An AMT clamp will help keep extension tubing from disconnecting
Frozen cold sticks fit in the bag (sold in sports bottles) – Jen
Carter’s crib pads work great on regular beds. – Brittany

Formula:

Containers: Pampered Chef Stir Pitcher – helps mix the formula – recommended by Michelle, Jen and Sheila

Portion control:

Lucy has begun measuring her snacks and lunches for school. She takes the scale and weighs her pretzels, chips, goldfish, etc. Puts them in baggies, and marks them for snacks. She also gets the measuring cups and measures out her pasta or corn. We use prepackaged jello, applesauce etc. We keep her pasta in individual containers in the fridge (she eats 1/2 cup for a sering). She has a drawer in the fridge devoted to just her things. We have a lot of discussion about food, what she can eat, etc and I am very upfront. When she asks about meat, regular cheese, etc, I just tell her it will make her very sick and she could die. I figure a little blunt fear is better than a maybe in this case and Lucy understands. She uses ” I’m allergic” to describe these NO foods. We also have “free foods” that she can eat all she wants if she just tells me how much. These are the things without protein– hard candy, apples, tomatoes, mushrooms, etc. If we don’t have a scale handy then she knows to count out the snack. She does this at school with pretzels etc. She actually has enough tolerance in her diet now that if she eats a few of these types of foods without me knowing the exact amount it won’t hurt. You might try the premeasured portions of aspargus in the fridge. And just tell her, “you eat more and you will get very sick”. I know I am hardcore, but someday they will have to make the decision on their own and Lucy is capable of understanding the consequences.Julie

School:

Know the nurse’s home phone #

Caring for the Caregivers:

Take time for yourself even if it is 15 minutes to read, journal, meditate, stretch…

Go for a walk or run.
Scrapbook
Retail therapy!!!
Gardening/yard work
Weekend retreat with girlfriends – or a night out…movie, dinner
Try to schedule quiet time with your spouse or an evening out

Meditation and breathing is good for a break
Try to budget for a babysitter for a night out.