A Family's Guide to Maple Syrup Urine Disease




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By Jessica Rowse
Illustrations by Christopher Parrilla















Preface

I wrote this book to teach the family as a whole about Maple Syrup Urine Disease. It is geared to help answer questions about dietary control, inheritance patterns and genetics, and other MSUD related topics. I think these issues are crucial to the well-being and emotional development of the child and of the family.

As a genetic counseling intern, I have worked in a metabolic clinic and have met many families of children with MSUD. I have seen how the diagnosis and the alteration of eating routines can cause a great burden to parents as well as to other family members. In creating this book, I want to stress that you, the parents, are the experts on life with MSUD and while I still have much to learn, I can offer some helpful hints and advice.

Parents have the hard task of managing the child's food intake while at the same time teaching independence. The main goal of MSUD and Me is to portray MSUD in a positive manner and in turn, help parents express this attitude to their children. Children's attitudes towards their diet are related to parental and familial dynamics and compliance. Kids learn from example and as parents, you need to stress the similarities between your child and other children rather than making MSUD and the diet the focal point.Teach your child what he/she can eat and do rather than focusing on the restrictions. This can help children see the diet as a normal part of life rather than a hindrance.

MSUD and Me can be used in many ways, depending on the age of your child, as a stepping-stone to introduce some of the diet issues and related vocabulary. MSUD and Me uses simple language to help children understand the concepts and information regarding MSUD. The book can also be given to siblings and other children to read and learn about MSUD. Each family is different and parents must determine what type of information they want to share with their children and when. Therefore, I recommend that parents review the book before sharing it with their child. I hope you enjoy this book with your family and children in your journey to learn more about MSUD.

Jessica Rowse MS
Genetic Counselor


This Book Belongs To:


__________________________________


I have Maple Syrup Urine Disease, but I just call it for short, and this book is about me. It's about MSUD and me. This book will help my family and me learn more about .






Hi, my name is Billy and I have Maple Syrup Urine Disease.

This is a big phrase so I just call it

I am special because I have






All people are born unique and that is what makes the world interesting.

Some people have brown hair, some have red.
Some people are short while others are tall.
Some people wear glasses, others don't.

Some people have , others don't.

The world would be dull if we were all the same.

I am special because I was born with .







What is ?

Having means that I need a special type of fuel or food to stay healthy and strong.

Some foods have things in them that, in large amounts, are not good for my body. Having means
that things called "Isoleucine, Valine, and Leucine" are not good for me.

is not like a cold, you cannot catch it from someone else or give it to someone else.







Isoleucine, Valine, and Leucine are huge words.

I have a hard time saying them. So let's break them down.

ISOLEUCINE -

VALINE -

LEUCINE -





Isoleucine, Valine, and Leucine are amino acids.

Amino acids are building blocks of protein.

Protein is in food and it helps my body grow.

Whenever you see the blocks we're talking about Isoleucine, Valine, and Leucine.








are in some of the foods that people eat and in some of the beverages people drink.

But you can't see because they are very, very tiny.

You can only see them with a microscope. Here are a picture of what they look like.







I drink a special type of drink or formula that looks like milk, but isn't. I like to call it my Mighty Milk.

Other types of milk from the supermarket have lots of in it. Other foods like meat and eggs have lots of too. All of those are not good for my body. My Mighty Milk does not have any in it, but it has just the right amount of other things that I need for my body to grow big and strong.








My Mighty Milk and other foods that my Mom, Dad, and doctor say are ok to eat help me to play, think, run, and do other fun things. My body does so many things that I need my Mighty Milk and other low protein foods to fuel it.







are in a lot of foods and so I have to be careful of what I eat. I need to ask my Mom and Dad which foods are ok so they know how much I eat.
Sometimes when I want to try some food that has too much in it, my Mom and Dad say no.
I have to eat something else instead.







ACTIVITY PAGE

Can you guess what types of food have a lot of ?
Hint: Foods high in protein have a lot of IVL.








What happens when I eat too much ?

If my body has too much in it, my body can't tell all of the where to go.

If the builds up, my body slows down.

I might not feel sick right away, but it might gradually be harder for me to be able to do all of the things I love to do.

I have to make sure that I have just the right amount of so that I can be healthy and strong.



My body grabs all of the in food instead of using it and getting rid of it like it is supposed to.

It's like there is a road-block and the can't get through.

So the builds up in my body in this traffic jam and it might make it harder for me to play and grow.








I can't have too much or too little, I need just the right amount to grow.

It's like taking a bath, the water shouldn't be too hot or too cold, but just right.








My Mighty Milk and my special diet of foods low in can help prevent the traffic jam and let my body run smoothly.

My Mighty Milk and special diet give me just the right amount of for my body to use.








Sometimes I visit the doctor's office and they test my blood.

By looking at my blood, they can check how much is in my body.

This is to make sure I'm not getting too much .








Sometimes when I get my blood taken it hurts.

Sometimes I cry.

But the doctor says that it is the only way to check that I have the right number of IVL.

When it's over I sometimes get a cool band-aid or a lollipop.








I go to a special clinic where everyone knows a lot about .

They see how tall I am and how much I weigh.

They want to make sure that I am getting the right number of to grow. Some people ask about school and about what types of foods I like to eat.








Sometimes it is hard to be special and not eat some of the foods that other kids eat. Sometimes I have different feelings about having .

Here's a list of some of the feelings I have:

• is not a huge deal.
  
• Having doesn't feel special.
  
• Sad that I have and others don't.
  
• Confused.
  
• Tired of going to the clinic.
  
• is not the most important thing about me.
  
• But I just remember that everyone is different and that I am not alone. There are lots of other kids with .
  

My Mighty Milk and special diet keep me strong and healthy.

My family, doctor, and nutritionist care about me and my diet because they want me to be able to do all of the things I love to do.







Now I know everything I need to know about !







Parent Guide to MSUD and Me






Genetics Explanation

Families of children with MSUD often have questions regarding how and why MSUD happened.

Here's a simple overview of the genetics behind MSUD.

This information might not be meaningful to young children, but might be useful to older children with MSUD, older siblings, and other family members.

As a parent, you must determine the appropriate age at which to share this information with your child.

When the time is right, I have included activities to help your child understand some of the genetics.

Our bodies are made of millions of cells that contain our genetic code packaged in structures called chromosomes.
All along these chromosomes are genes, like beads on a string. These genes are blueprints for our body and they tell our body how to function.





In most of our cells we have 46 chromosomes that are arranged into 23 pairs by their size. Chromosomes come in pairs and so do genes!

We get one of each pair from Mom and the other from Dad.





So a child gets half of their genes from Mom and the other half from Dad. That's why we look like our parents and other family members! Here are some traits that run in the family.

Eye color, Hair color, Tongue rolling, Hitch-hiker's thumb.






ACTIVITY PAGE
Can you name some other features that you have in common with your Mom and Dad?

MOM	DAD

Sometimes there can be a change in a gene and it might not work like it is supposed to. MSUD is passed down by autosomal recessive inheritance. This means that someone has MSUD because they have two non-working genes,
one inherited from Mom and one inherited from Dad. If someone has one non-working gene and one working gene they are called a carrier and do not show signs of MSUD.

So with each pregnancy, there are four possibilities. Each pregnancy is an independent event. It is like flipping a coin.





Just as we cannot control what color hair we have or how tall we are we cannot control what genes we pass on to our children.






ACTIVITY PAGE
Now you can draw your family tree and see what you have in common with other family members!





Here are some ideas to help your child become more understanding and accepting of MSUD.
The goal of this book is to educate your child about MSUD so that eventually your child will become more independent and responsible for the diet.

The suggestions listed were presented by fellow parents of children with MSUD.

I hope some of the ideas are helpful.



School

Many new parents have millions of questions running through their minds about how the diet is going to be followed in school. It is often helpful to first speak with your child's teacher about MSUD so that you, the teacher, and the school staff can begin to work as a team. You can start by giving your child's teacher some literature explaining MSUD and the importance of following the MSUD diet. The teacher can then contact you if there is a special occasion coming up in class where food would be involved. If the food is not allowed in the MSUD diet, you can send something similar or a special treat for your child to eat. Another option is to send your child into school at the beginning of the school year with a box of special low protein treats to be used during special occasions.
If your child wants to order lunch from the school cafeteria, you can ask for the school's menu in advance in order to review which foods and how much are appropriate. It might also be helpful to make contact with the school's dining staff to find out about portion sizes. You can also discuss having your child record what types of food and portion sizes to determine levels of protein. This process can help your child become involved in the management of the diet. In addition, your child might not want to drink the formula during school time in front of classmates. One suggestion is to discuss with the teacher about drinking the formula in a different room during a specified time each day. Another suggestion is for your child to drink the formula before going to school and then immediately after school is over.


Differences are what make the world unique

In order to help your child understand the importance of the diet, you can use this opportunity to explain how all people are different and unique. A child with MSUD is just like other children, except that he/she must follow a very different diet. You can explain that different people all over the world eat different types of food due to various customs, religions, and traditions. For example, people from different countries eat different types of food. In addition, there are vegetarians who do not eat meat.

You can also discuss other types of diets that are related to heath issues such as high blood pressure (restriction of salt), diabetes (control of sugar), and Phenylketonuria (PKU) (special formula and low protein diet similar to that used in treatment of MSUD).


Fun with Food

Food is a necessary ingredient to sustain life but it also adds to social, behavioral, and emotional recipes. Therefore experiences with food can shape someone's development. Your child can learn about various types of food by preparing foods different ways (slice, dice, chop, raw, baked, sautéed, fried, etc). Experiment with foods that are allowed in the diet by cooking low protein meals with your child. You can discuss how foods prepared with low protein ingredients that are unique to the diet often resemble other foods.

By trying new foods and preparing foods in a variety of ways, your child will learn the broad span of the diet without feeling constricted by it. You and your child can create a special MSUD cookbook filled with pictures of foods your child likes and recipes that you have made together.


Independence and MSUD

Eventually, a child with MSUD needs to take responsibility for his/her diet. This sense of control will allow the child to explore the outside world, hang out with friends, spend the night away from home, and develop a feeling of independence. By teaching the MSUD diet to children, your child will soon learn how to determine what and how much food they can eat within the borders of the diet. Various food-related activities can help your child gain this important feeling of control. For example, you can take your child food shopping and allow him/her to choose the types of food he/she likes and enjoys. Your child can look through low-protein cookbooks to choose recipes he/she would like to try.

You can also teach your child how to keep track of the Isoleucine, Valine, and Leucine in the diet using creative techniques such as a decorative daily food chart, which counts the number of these amino acids each day. Finally, another important activity is to teach your child how to measure and mix his Mighty Milk or formula.




Recipes

(All recipes are reprinted from www.msud-support.org by kind permission of the Maple Syrup Urine Disease Family Support Group)


Fruit Slush

1 qt. diced peaches
6 bananas, sliced
1-20 oz. can crushed pineapple
1/2 lb. red seedless grapes, halved
1 qt. diced pears
6 oz. frozen orange juice concentrate
1/2 c. sugar

Drain fruit, saving the juice. Add water to reserved juice to make 3 cups; stir in 1/2 cup sugar and orange concentrate until dissolved. Pour juice mixture over combined fruits and mix. Freeze in a shallow pan. Remove from freezer 1/2 hour before serving. 16 servings.

	Leucine	Protein	Calories
Per serving:	73 mg	1.5 g	256
Per recipe:	1168 mg	23.5 g	4100

Orange Julius

1/3 c. (2 oz.) frozen orange juice (undiluted)
1/2 t. vanilla
1/2 c. non-dairy creamer
6 ice cubes
1/4 c. sugar (white or brown)
1/2 c. water

Blend in a blender until thick and ice cubes are chopped fine.

	Leucine	Protein	Calories
Per recipe:	69 mg	0.6 g	518

Dream Dessert

1 box (4 1/2 oz) vanilla cook & serve pudding
1 (6 oz) box orange Jello
4 1/2 c. water
8 oz. Cool Whip

Combine pudding mix and water. Bring to a boil and cook 1 minute. Add Jello; chill till partially set. Fold in Cool Whip. Pour into serving dish and chill until set. Makes 8 servings.

	Leucine	Protein	Calories
Per serving:	105mg	2.4g	216

Note: Use low protein gelled dessert in place of Jello to reduce protein


Creamy Sorbet

1-8 oz. container of Cool Whip, thawed
1 pint sorbet (desired flavor)

With a mixer whip Cool Whip and sorbet together.
Freeze. Makes 8-1/2 cup servings.

	Leucine	Protein	Calories
Per serving:	54 mg	1.0 g	148
Per recipe:		7.6g	1180

Tastes Like Devil's Food Cake

1/2 cup sugar
1/4 cup Miracle Whip
2 T. Hershey's Cocoa (not instant)
1/2 cup cold water
1/2 cup (55gm) Wel-Plan baking mix
1/2 cup (55 gm) wheat starch
1 tsp. baking soda
1/4 tsp. salt
1/2 tsp. vanilla
1/2 package instant pudding (chocolate or vanilla)

Combine all ingredients.Pour into a greased 8"x 8" pan.
Bake 20 to 25 minutes. Yields 10 pieces.

	Leucine	Protein	Calories
Per piece	18mg	-	108

Spicy Candied Yams

16 oz. can yams or sweet potatoes, drained
1/2 tsp. cinnamon
3 T. packed brown sugar
1/4 tsp. ginger
2 T. margarine or butter, cut into pieces
1/4 tsp. cloves
1/2 c. Rich's Coffee Rich
2/3 c. (26 gm) mini marshmallows

Mash sweet potatoes or yams in a 1 qt. casserole dish. Stir in brown sugar, margarine, Rich's Coffee Rich and spices. Top with marshmallows. Bake at 350°, uncovered for 15 minutes or microwave on 70% power for 5 minutes. Yield: 2 2/3 cups (670 gm) 1 serving is 31 gm (2 tablespoons)

	Leucine	Protein	Calories
Per (31 gm) serving:	20mg	0.3g	44

I would like to thank:


The Maple Syrup Urine Disease Family Support Group

Mount Sinai School of Medicine

Elizabeth Lim-Melia, MD

Nancy Cincotta, MSW

Christopher Parrilla

My Dad

My Friends and Family