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helping you manage
helping you manage
Managing
Tyrosinemia
Your simple guide
to tyrosinemia,
its treatment, and
special diet
2
Hello &
welcome
to Managing Tyrosinemia, your guide
to hereditary tyrosinemia type 1, or HT1
(we’ll just call it tyrosinemia)
e know it can be hard when you or someone you love has a rare
disease, and you might have a lot of concerns. Managing Tyrosinemia
is your manual for important basic information you and your family
need to know. It contains lots of answers from the people who
know tyrosinemia best—specialty doctors and nurses, and parents of children or
teenagers who have the condition. We hope you find it useful.
W
Patients should always take medicines as prescribed by their treating
physician and should carefully follow the instructions and advice of their
care team.
Dr Sumaira Malik, health psychology specialist
Let’s Talk Tyrosinemia is a support program for families of children with hereditary
tyrosinemia type 1 (HT1), prescribed Orfadin®. Let’s Talk Tyrosinemia was initiated and
funded by Sobi, and designed and managed by Atlantis Healthcare.
helping you manage
How to use
this book
This is your guide to all the important
basic information you need to know
about tyrosinemia.
Remember:
you can look back
through this book
at any time
IT INCLUDES:
Facts about
tyrosinemia and
the diet you have
to follow
Easy list of foods
you can have
Tips on how to
explain tyrosinemia
to other people
Ideas on getting the
most from your
care team
3
4
What’s in this book?
Tyrosinemia explained
6
Our expert answers questions
Tyrosinemia treatment
8
All about the medicine, diet, and
protein substitutes
How to manage diet and medicine
10
Experts share their tips
Remember, the dose will change
13
What will happen with the medicine
as kids get older?
The low-protein diet explained
14
Your complete guide to what to eat
and what not to eat
Your quick food guide
18
A helpful list of foods to eat
and ones to avoid
Meet our kid and parent panel
You’re not alone. Our panel of kids and their parents know all about living with tyrosinemia.
Here are some of the most positive things they’ve learned from personal experience.
helping you manage
Talking to others
20
How to explain tyrosinemia
Who else can help?
28
Learn how to get support from
Meet your care team
24
Find out the role each
Medical words explained
30
A quick guide to some of the
to other people
professional plays
other people in your life
language your doctor uses
Get the most from your
26
care team
How to get more from each
appointment
Bianca, 11, was
diagnosed with
tyrosinemia right
after she was born.
Sarah & Brian Taylor
are parents of Grace, 11,
who was diagnosed with
tyrosinemia when she
was 3 weeks old.
Sam, 13, who was
diagnosed with
tyrosinemia when he
was 4 months old.
Sarah Flowers is the
mother of Jake, 17, who
was diagnosed with
tyrosinemia when he
was 6 months old.
I’m a normal girl
with a rare illness, so
I’m special!
We haven’t let this
condition define who
Grace is or restrict her
in any way. We don’t treat
her like she’s ill.
She lives life to the fullest,
just like any other
11-year-old.
Nothing’s an obstacle
for me!
In the early days, we
spent ages reading food
labels, finding
ingredients, menu
planning, and working
out what Jake could
eat if we went out.
Now it’s all so easy and
matter of fact.
5
6
Tyrosinemia
explained
Dr Patrick McKiernan, a consultant
pediatrician and liver specialist, answers
your questions
WHAT IS TYROSINEMIA?
Tyrosinemia is a rare disorder where the
body cannot break down a substance called
tyrosine that comes from food. It is also known
as hereditary tyrosinemia type 1 (or HT1). Tyrosine is
one of 20 amino acids, which are the building blocks
of protein. Most people make an enzyme called
fumarylacetoacetate hydrolase, or FAH, which breaks
down tyrosine. But people with tyrosinemia can’t
make this enzyme, so tyrosine cannot be completely
broken down. This means that when they eat protein,
high levels of tyrosine build up in their blood and are
changed into harmful substances, which can lead
to problems in the kidneys and liver. The brain and
spine (known as the central nervous system) can also
be affected.
WHAT CAUSES TYROSINEMIA?
In people with tyrosinemia, the gene that makes
FAH is either missing or doesn’t work properly. So
they can’t break down tyrosine when they eat protein.
Tyrosinemia is a genetic disorder—it is passed on
through parents when they both have a gene that
doesn’t work properly.
HOW RARE IS IT?
Tyrosinemia is extremely rare. Around one in
every 100,000 babies born will have tyrosinemia. The
same number of boys and girls are affected.
WHAT ARE THE SYMPTOMS?
Usually symptom-free at birth, babies with
tyrosinemia often develop symptoms during the first
few months of life. These symptoms can vary greatly.
Often, the baby stops putting on weight and is irritable.
Other early symptoms include fever, diarrhea, vomiting,
an enlarged liver (so the baby’s tummy looks swollen),
bruising, jaundice (where the skin looks yellow in color),
and nosebleeds. If left untreated, tyrosinemia can lead
to life-threatening liver failure.
WHAT CAUSES THE SYMPTOMS?
When the body cannot break down tyrosine, high
levels build up in the blood and form a toxic substance
(known as succinylacetone) in the liver, kidneys, and
central nervous system. This means if tyrosinemia isn’t
treated, it may cause liver and kidney damage, and
brain-related problems, such as problems
with learning.
HOW IS IT TREATED?
The good news is that it’s possible to
manage tyrosine levels in the blood, and reduce
the risk of symptoms of tyrosinemia with a lifelong
combination of medicine, protein supplements,
and diet:
Patients should always take medicines as prescribed by their treating physician and
should carefully follow the instructions and advice of their care team.
Indication
ORFADIN inhibits 4-hydroxyphenylpyruvate dioxygenase. ORFADIN is used as an adjunct to dietary restriction of
tyrosine and phenylalanine in the treatment of hereditary tyrosinemia type 1 (HT-1).
Please see accompanying Full Prescribing Information.
helping you manage
Turn to page 10
for more information
about managing diet
and medicine
1
The drug Orfadin® (nitisinone) is prescribed and
taken twice daily. The dose will be decided by your
doctor. This medicine contains an ingredient called
nitisinone, usually known as NTBC. It works by blocking
the breakdown of tyrosine before it can be changed
into harmful substances. But because tyrosine stays in
the blood, everyone who has it has to follow a special
diet low in tyrosine and phenylalanine, another amino
acid that is changed to tyrosine in the body.
IS A NORMAL LIFE
POSSIBLE?
Yes. Once a diagnosis has been
made, we can help keep tyrosine
and succinylacetone levels in the
blood stable with medicine, protein
substitutes, and a controlled diet. This
means that a person should be able to
do the things they want to do.
2
Protein substitutes are taken every day. Infants
are given a special infant formula. Older children
and adults can get their protein substitutes from a
different formula designed for the nutritional needs
of people their age. These protein substitutes contain
all the amino acids except 2 that the body is unable
to break down (tyrosine and phenylalanine). They
also contain all the vitamins and minerals needed for
healthy growth.
3
Everyone with tyrosinemia needs a special diet
with a carefully calculated amount of tyrosine and
phenylalanine (because phenylalanine is converted
to tyrosine in the body). Babies diagnosed with
tyrosinemia are prescribed a special milk formula that’s
free from tyrosine and phenylalanine. Small amounts
of breast milk or standard infant formula are added
to the special formula to provide the tyrosine and
phenylalanine needed.
HOW IS TYROSINEMIA
TREATED?
Side effects
If there are any side effects
with Orfadin®, talk to your
care team. This includes
any possible side effects not
listed in the package insert.
To report SUSPECTED
ADVERSE REACTIONS,
contact Swedish Orphan
Biovitrum at 1-866-773-5274
or FDA at 1-800-FDA-1088 or
www.fda.gov/medwatch.
Before the drug Orfadin® was available, the only
treatment was a liver transplant. This could often lead
to a good quality of life, but it is a major operation and
someone who has it needs to take medicines (known
as immunosuppressants) for the rest of their lives.
Today, though, if a child is diagnosed early and follows
their treatment plan, their blood levels of tyrosine and
succinylacetone should stay low. This should help
prevent them from having problems and greatly cut the
risk of developing liver problems and needing a liver
transplant in the future.
IMPORTANT SAFETY INFORMATION
•Tyrosine levels can increase in the blood if you do not restrict tyrosine and phenylalanine in your diet while
taking ORFADIN. Too much tyrosine in the blood can cause serious eye problems or
other complications.
•Do not adjust your ORFADIN dosage in order to lower the tyrosine levels in the blood.
Always follow the orders of your prescribing physician.
Please see accompanying Full Prescribing Information.
7
8
Tyrosinemia
treatment
A guide to how your medicine,
a special diet, and a protein
supplement work together
1
How treatment works
“When [a] child is diagnosed with
tyrosinemia, they will be started on
treatment as soon as possible because if they remain
untreated they could develop serious liver and kidney
damage, and problems of the brain, spinal cord, and
nerves (known as neurological problems),” says Dr
Patrick McKiernan, a consultant pediatrician and liver
specialist. “This involves daily medicine (Orfadin®
[nitisinone]), daily protein substitutes, and a special
diet for the rest of their life. They’ll also do simple blood
tests to check tyrosine levels, so their care team can
suggest changes in diet or dose of medicine. This can
seem a lot to take in at first, but they’ll be supported by
their care team.”
2
About the medicine
The medicine Orfadin® contains the active
ingredient nitisinone. Orfadin® capsules are
white, imprinted with ‘NTBC’ and the strength ‘2 mg’,
‘5 mg’ or ‘10 mg’, in black. The capsule contains a white
to off-white powder. In people with tyrosinemia, the
amino acid tyrosine (amino acids are the building
blocks of protein) is not broken down in the typical
way. Tyrosine gradually breaks down, forming harmful
substances that can build up in the body. Orfadin®
blocks the buildup of those harmful substances. But
as tyrosine stays in the blood, a special diet must be
followed to keep blood levels of tyrosine low. Your
doctor will tell you how often Orfadin® needs to be
taken. It is important to follow the instructions exactly.
The amount a child needs will change as they grow,
so don’t be surprised when the dose alters. Usually,
Orfadin® needs to be taken twice a day—once in the
morning and once in the evening.
3
If a dose is missed
If a dose is missed, do not take a double
dose to make up for it. Instead, contact your
care team. “You won’t see any immediate problems if
you miss a dose, but please tell us if it happens,” says
clinical nurse specialist Collette Stainforth. “We might
need to do an extra blood test to see if there is any
change in the blood tyrosine level. And if your child
regularly misses a dose we might need to arrange a
time to talk about why it’s so important to take the
medication regularly. Plus, there are simple things that
can be done to prevent that from happening.”
4
How a special diet helps
In addition to taking Orfadin®, a special diet
is essential because tyrosine will remain
in the body. This diet is based on foods that are low in
tyrosine and phenylalanine. It is also known as a lowprotein diet and helps to control tyrosine levels in the
blood. Tyrosine and phenylalanine are found in protein,
so high-protein foods must be avoided to stop too much
tyrosine building up in the body.
DID YOU KNOW?
If there is a problem swallowing Orfadin® capsules, the
powder can be mixed with a small amount of water just
before taking it.
IMPORTANT SAFETY INFORMATION
•A reduction in the number of white cells and platelets in the blood have been observed during treatment with ORFADIN.
Your platelet and white blood cell counts should be monitored regularly during ORFADIN treatment.
•The most common adverse reactions to taking ORFADIN are liver cancer, liver failure, low platelets or white cells in the
blood, and complaints related to the eyes, including conjunctivitis, corneal opacity, inflammation of the cornea, and
extreme sensitivity to light.
Please see accompanying Full Prescribing Information.
helping you manage
DID YOU KNOW?
For more
information about
protein substitutes,
turn to page 14
“It’s important to tell your healthcare
professional about immunizations or any
illness, especially vomiting or diarrhea, because they can affect
blood tyrosine levels.”
Nicky Mumford, clinical nurse specialist
Foods to avoid include: meat, fish, cheese, eggs,
milk, beans, nuts, ordinary bread, and pasta.
Foods to eat in carefully measured amounts include
potato products, rice, cereals, peas, and sweet corn.
“The list of foods...to avoid may seem long at first,
but there are lots of low-protein foods that can be
eaten freely, such as low-protein pasta, breads, pizza,
fruit, vegetables, and sweets,” says dietitian Anne Daly.
For more about foods to eat and foods to avoid, see
the food lists at the back of the book.
5
Why are protein substitutes
needed?
6
Can you have tyrosinemia and still
be healthy?
Yes, as long as blood tyrosine levels continue
to be well-managed. The only difference will be the daily
medicine and food supplements that have to be taken
and the foods that can and can’t be eaten.
7
Find out more
Your care team has more information
and is there to help you. You can also ask
about sources of information online that might
be useful. Ask about what’s available in
your area.
Orfadin® (nitisinone) stops
tyrosine being broken down into
harmful substances. But this means
tyrosine stays in the blood and
that can also be damaging to
your health. To help prevent high
levels of tyrosine in the blood, it’s
important to have a low-tyrosine
and low-phenylalanine diet. That
means avoiding foods that are high
in protein. All children and teenagers
need protein to be able to grow
normally, so the protein that has been
taken out of the diet needs to be replaced.
This is done using protein supplements or protein
substitutes.
“For babies, all the protein (except tyrosine and
phenylalanine), vitamins, and minerals needed for
growth are provided in their special infant formula,”
says Anne.
IMPORTANT SAFETY INFORMATION
•Tell your physician promptly if you have unexplained eye symptoms, rash, jaundice (yellowing of the skin or whites of the eyes) or
excessive bleeding.
•Use ORFADIN during pregnancy only if the potential benefit justifies the potential risk to the fetus.
•Nursing women should discontinue either ORFADIN or breast-feeding based on the recommendation of your healthcare professional.
Please see accompanying Full Prescribing Information.
9
10
How to manage
diet and medicine
It’s really important for anyone with
tyrosinemia to take their medicine and
protein supplements, and keep to their
special diet. Without this treatment, the
risk of becoming seriously ill increases. It can
seem overwhelming. But remember that your
child’s nurse specialist and dietitian will be
there to guide and support you each step of
the way. You should always follow your care
team’s advice, but these tips might help.
MAKE A DAILY SCHEDULE
It may seem hard to get into a routine, particularly to
begin with. Health psychology specialist Dr Sumaira
Malik recommends writing down the daily treatment
schedule, including current doses and protein intake.
A daily schedule can be customized by a doctor or care
team to accommodate specific needs. Each step can
be checked off as it is done. For example:
8am:
Breakfast & Orfadin® (nitisinone) capsule
9am: Protein substitute (formula)
Midday: Lunch
1pm: Protein substitute (formula)
5pm: Dinner & Orfadin® capsule
6pm: Protein substitute (formula)
GET ORGANIZED
1
Store everything you need for treatment
(medication, spot cards, formula milk, protein
substitutes, low-protein foods, weighing scales) in the
same pantry.
2
Once a week, someone should plan the menu
for the whole family, including for the child or
teen with tyrosinemia. Then you can check the fridge,
freezer, and food pantry to see if you need to order or
buy any low-protein foods.
3
Keep a list of important numbers (for example,
care teams) next to the phone for easy access.
BE PREPARED
Just in case, everyone in the family should know how
to fix a quick, easy back-up meal from something
stored in the kitchen pantry. Some examples are
canned soup and low-protein bread, low-protein pasta
with low-protein sauce, or microwaveable fries
and salad.
IMPORTANT SAFETY INFORMATION
•Tyrosine levels can increase in the blood if you do not restrict tyrosine and phenylalanine in your diet while taking
ORFADIN. Too much tyrosine in the blood can cause serious eye problems or other complications.
•Do not adjust your ORFADIN dosage in order to lower the tyrosine levels in the blood.
Please see accompanying Full Prescribing Information.
helping you manage
It is very
important
to make
sure to…
… take Orfadin®
(nitisinone) regularly as
prescribed by your doctor.
…
avoid
protein-rich foods.
They cause harmful
substances to build
up in the blood.
… stick to a diet
with the right amount
of protein under the
supervision of your
doctor and care team.
Please see accompanying Full Prescribing Information.
11
12
KEEP ALL APPOINTMENTS
Everyone with tyrosinemia needs to be monitored
very closely throughout their life. Write down clinic and
optician appointments on the calendar and highlight
them so they don’t get missed.
Someone needs to keep track of:
blood tests: You, a family member, or your care
team will do a blood test from once every week to once
every month. How often depends on a person’s age
and how stable their blood tyrosine levels are. The
test is mailed to a laboratory where a technician will
measure the levels of tyrosine and phenylalanine in
the blood. The aim is to keep tyrosine levels below
500 µmol/L
discussions with care team: After each blood spot
or test has been analyzed, the blood tyrosine and
phenylalanine levels will be reported to your care team.
Depending on the results, dietary changes may be
needed. Keeping in regular contact with your support
team will keep you up to date
How to
measure
protein
in food
People with tyrosinemia are
allowed a small amount of protein
every day. Your care team will
help you build a personalized diet.
Keep a food record and take note
of everything you eat.
trips to the optician: High levels of tyrosine in the
blood can cause eye problems, so your child might
need to visit an eye doctor regularly
clinic visits: Typically, a person with tyrosinemia
needs to have a complete check-up at the clinic at least
every 6 months, so that treatment can be reviewed.
Blood samples are taken to check that the support is
right and confirm that the body is getting all the
nutrients it needs. An ultrasound or MRI scan of the liver
will be given to check that it is healthy
The improvement in low-protein foods—the variety and the
quality—is changing for the better all the time.
Sarah, mother of Jake, 17, who was diagnosed with tyrosinemia when he
was 6 months old
helping you manage
Remember,
the dose will change
As a child with tyrosinemia grows, the amount of
Orfadin® (nitisinone) they need changes. The bigger you
are, the more you need. The doctor needs to know your
weight and height to work out the exact dose. This is
why you will need to be weighed and have your height
measured at least every 6 months. When growth slows
down, usually in the late teens, monitoring may be
needed less often. Your doctor will tell you how often
to come in.
The usual total daily dose is between 1 mg and 2 mg of Orfadin® per
kilogram (kg) of body weight, divided into 2 doses (one taken in the
morning; one taken in the evening), but your doctor will change the dose
as needed.
Child’s weight Orfadin® dose
7 kg
7 mg
Baby
(weighing ~15 lb)
20 kg
20 mg
Child
(aged about 5 or 6 yr)
35 kg
35 mg
Older child
(aged around 11 yr)
Your doctor will calculate the right dose and tell you whenever
it needs to be increased. The medicine will still need to be taken
twice a day. Only the dose will change. Ask your doctor if you have
any questions.
Please see accompanying Full Prescribing Information.
13
14
The low-protein
diet explained
Everyone who takes Orfadin® (nitisinone)
also needs to follow a special diet. It’s based
on low tyrosine and phenylalanine content
and keeps tyrosine blood levels within a
healthy range.
Always consult with your prescribing physician and
care team regarding the recommended diet for you.
THE 4 LOW-PROTEIN DIET RULES
1.Avoid high-protein foods.
2.Have daily protein substitutes as prescribed to
ensure healthy growth and development.
3.Have a calculated amount of protein every day.
4.Eat plenty of low-protein foods.
WHAT ARE HIGH-PROTEIN FOODS?
High-protein foods are off-limits because they
contain too much tyrosine and phenylalanine.
These foods include:
meat
fish
cheese
eggs
milk
nuts
soy
ordinary bread, cakes,
cookies, and chocolate
seeds (such as sunflower
or pumpkin seeds)
peas and beans (such as lentils and kidney beans)
WHAT IS A PROTEIN SUBSTITUTE?
Also known as a protein supplement, a protein
substitute contains all the ingredients of protein
(these are called amino acids), except tyrosine and
phenylalanine. The substitute is given to babies in
their special infant formula with some given at each
feeding. Older patients are given the substitute formula,
usually in 3 or 4 equal amounts during the day. It is very
important to take the full amount of protein substitute
because it helps normal growth and controls the levels
of tyrosine in the blood. Plus, these substitutes contain
extra vitamins and minerals needed to be healthy, such
as iron, calcium, and zinc.
When the laboratory analyzes the blood tests of
someone with tyrosinemia, they also measure the
levels of phenylalanine in the blood. If levels are too
low, extra phenylalanine powder is given. This is mixed
into formula and given as a protein substitute.
WHAT FOODS ARE ALLOWED?
Some foods contain very little or no protein and these
foods are encouraged because they are almost always
okay to eat. Examples include most fruits (apples,
bananas, pears), many vegetables (mushrooms,
tomatoes, cucumber), vegetable oil, butter, sauces
such as tomato sauce, some store-bought sweets, jam,
and honey. See the lists of foods provided in this book
and talk to your care team.
There are also over 100 low-protein foods from
specialty companies that can be eaten with little risk.
Ask your care team what is available to you locally
or online, and how to get it. Always consult with your
doctor and care team before making changes to
your diet.
“If these foods are eaten in normal amounts, blood
tyrosine levels will be high and that may cause health
problems,” says Dr Patrick McKiernan.
IMPORTANT SAFETY INFORMATION
•A reduction in the number of white cells and platelets in the blood have been observed during treatment with
ORFADIN. Your platelet and white blood cell counts should be monitored regularly during ORFADIN treatment.
•The most common adverse reactions to taking ORFADIN are liver cancer, liver failure, low platelets or white cells
in the blood, and complaints related to the eyes, including conjunctivitis, corneal opacity, inflammation of the
cornea, and extreme sensitivity to light.
Please see accompanying Full Prescribing Information.
helping you manage
A protein
exchange is the
weight of food
that is equivalent
to 1 g of protein
HOW IS PROTEIN INTAKE MEASURED?
The levels of tyrosine and phenylalanine in high-protein
foods, such as meat, fish, dairy products, and peas and
beans, are too high. But everyone with tyrosinemia still
needs a small amount of tyrosine and phenylalanine
to help them grow normally. Different care teams
have different ways of measuring nutritional intake.
One common way of measuring is through protein
exchanges. Remember to always use the same method
suggested by your care team and to be accurate when
estimating your intake.
THERE’S NO NEED TO ‘FEEL DIFFERENT’
“Anyone with a long-term condition might sometimes
feel frustrated and different from others,” says
consultant clinical psychologist Shauna Kearney. “But
there are ways to help with this.”
Talk openly about your feelings. Talking to a care
team can be helpful if it is difficult to talk to close
family members
Make low-protein meals similar to what the rest of
the family eats. Recipes can be adapted with
low-protein ingredients, such as low-protein flour and
egg substitute
Many people have special diets. There are likely to
be people who can’t have dairy or wheat, who are
allergic to nuts, who have diabetes, who are vegetarian,
or who fast for religious reasons
Ask your clinical nurse specialist to arrange for
you to meet other families who are living with
tyrosinemia, if possible. It may be helpful to meet
someone who has had similar experiences and needs
the same treatment
Examples of foods used in
protein exchanges
Breakfast cereals
Potatoes
Rice
eas
P
Sweet corn
Your care team will be able to advise you on
prepackaged foods, too, such as chips. Ask for a list.
15
16
I don’t think Grace is worried about being different.
She takes her low-protein diet in her stride.
Sarah, mother of Grace, 11
GETTING THE PROPER NUTRIENTS
It is important to take a protein substitute to ensure
you are getting the right amount of protein for
healthy growth.
Clinical nurse specialist Nicky Mumford shares her
top tips for success.
Allot enough time during meals to finish all food
Consider a reward for finishing
Try a wide range of free foods and low-protein foods
to get used to a variety of tastes and textures
Plan family meals and go shopping together. While
you’re in the supermarket, work out protein exchanges
and discuss recipes
Get everyone involved in cooking low-protein meals.
Weighing out ingredients, mixing, stirring, and chopping
can help to encourage a positive attitude toward food
A sample day on
a protein exchange diet
If 10 protein exchanges a day are allowed, it’s best
to spread them out throughout the day—3 for
breakfast, 3 for lunch, 1 as an after-school snack, and
3 for dinner.
Always check with your prescribing physician and care
team to confirm the right foods for you.
For example:
BREAKFAST: 45 g breakfast cereal (3 protein
exchanges) with low-protein milk replacement
LUNCH: 135 g rice (3 protein exchanges) with
vegetable curry sauce
AFTER-SCHOOL SNACK: carrot sticks and 1 small
bag of chips (1 exchange­—check with your care
team for which kind of chips and what sized bag, to
make sure you get the protein exchange exactly right)
DINNER: 105 g sweet corn (3 exchanges) scattered
on a low-protein pizza base covered with lowprotein cheese substitute and ‘free’ tomato sauce. Or,
low-protein pizza with tomatoes, peppers, mushrooms,
and low-protein cheese and fries as exchanges
(3 exchanges)
Or:
Low-protein recipes,
cooking tips, and low-protein
products can be found at:
www.cambrookefoods.com
www.medicalfood.com
www.dietspec.com
www.myspecialdiet.com
www.tasteconnections.com
BREAKFAST: 30 g shredded wheat (3 protein
exchanges) with low-protein milk replacement
LUNCH: 60 g baked beans (3 protein exchanges) on
low-protein bread with butter. Or, baked potato
(3 exchanges) and low-protein cheese with salad
AFTER SCHOOL SNACK: 1 banana and 1 packet
of crisps (1 exchange)
DINNER: 2 low-protein sausages, 6 onion rings
(3 exchanges) and salad
helping you manage
WAYS TO KEEP A
LOW-PROTEIN DIET
Eat foods that contain very little or no
protein. These include most fruits,
vegetables, sugar, and oils (for example apples,
bananas, mushrooms, and honey). See the lists
at the back of this book for details
Eat a wide range of ‘specialty’ lowprotein foods. These include breads,
pasta, cereals, soups, cakes, and cookies that are
made by specialty companies. Your doctor can
tell you how to get them. For example, it may be
possible to order them through a pharmacy or
have them delivered to your home
Eat small, measured amounts of
low-protein foods. These include cereals,
potatoes, sweet corn, and rice. Your dietitian will
help you determine how much of these foods
you should eat based on body size and change
with growth. You will be shown how to measure
and weigh portions
17
18
Your quick
food guide
Each individual should
customize a diet with their
doctor and care team.
Always speak to your
team to find out which
foods to avoid.
It can be difficult to learn the different foods to eat and avoid. This
guide has been designed to make it easier. It isn’t a complete list, but
gives examples of foods in different food groups, to make shopping
and cooking simpler. Remember, you should always speak to your care
team for more detailed advice, as each person with tyrosinemia can
tolerate different amounts of protein. Plus, the amount you can have
will change as you get older.
Little-/No-protein foods
These are some examples of foods that contain little or no protein
and are encouraged as part of a healthy diet.
VEGETABLES
Carrots
Celery
Cucumber
Eggplant
Zucchini
Lettuce
Tomato
Mushrooms
Peppers
Broccoli
FRUIT
Apples
Bananas
Pears
Grapes
Strawberries
Mango
Melon
DRINKS
Fruit juice
Water
Tea and coffee
Herbal tea
Rice milk
Carbonated soft drinks
SWEET TREATS
AND DESSERTS
Sugar
Jam
Honey
Maple syrup
Jelly (thickened with
vegetable gum, not gelatin)
Sweets that don’t contain
chocolate, milk, gelatin, or
nuts—for example, jellybeans
Cassava crisps (check with
your dietitian)
Popsicles that don’t contain
dairy ice cream or nuts
Cookies and cakes made
with egg replacers and
low-protein flours
BREAD, PASTA, AND RICE
ow-protein bread, rice,
L
pasta, and noodles
LOW-PROTEIN CHEESE
vailable from
A
www.alternativestores.com
OILS, HERBS, SPICES,
AND CONDIMENTS
Dried herbs and spices
Lemon juice
Olive oil
Vinegar
Chilies
helping you manage
High-protein foods
These foods are high in protein and your child
needs to avoid them.
MEAT
Beef
Lamb
Pork
Poultry, such as
chicken and turkey
Rabbit
Kidney
Liver
Processed meat products,
such as salami, sausages,
bacon, and ham
BEANS AND LEGUMES
Lentils
Chickpeas
Soy beans
Kidney beans
NUTS AND SEEDS
FISH
hellfish, such as
S
oysters and shrimp
White fish, such as cod
Oily fish, such as salmon,
tuna, and sea bass
Cashew nuts
Brazil nuts
Hazelnuts
Pecans
Peanuts
Almonds
Pine nuts
Sesame seeds
Sunflower seeds
Tahini
Nut butters
Low-protein foods
These contain some protein but can be eaten in
carefully measured amounts, as recommended by
your care team.
VEGETABLES
otatoes—including chips and
P
baked, mashed, roasted, or
boiled potatoes
Sweet corn
Peas
STORE-BOUGHT SAUCES
asta sauces, curry sauces,
P
and Chinese sauces
PICKLES
Like gherkins and onions
CEREALS
Breakfast cereals
Oats
SNACKS
Chips
DAIRY, SOY, AND EGGS
Milk
Soy milk
Yogurt
Cheese
Ice cream
Eggs
Family meals
made easy
Here are some dishes the whole family
can eat, with only small changes
for tyrosinemia:
egetable stir-fry with sweet
V
and sour sauce—use low-protein
noodles or rice
Vegetable curry with rice—use
low-protein rice
Vegetable kebabs with
low-protein flatbreads
Stuffed peppers—stuffed with
low-protein rice and mixed vegetables
Fruit salad
Grilled pineapple rings
Low-protein crumble and custard
Low-protein muffins
19
20
Talking
to others
Anyone who knows a person with
tyrosinemia—family members, friends,
and teachers—needs to understand what
tyrosinemia is and what the needs are.
Clinical nurse specialist Collette Stainforth has
some tips to help you to explain the condition
to others.
TIPS FOR TALKING
Make time for conversations
Want to talk to someone about tyrosinemia?
Set aside a good time to do it. For example, rather than
talking with a member of your family at dinner, ask if you
can agree on a time and place for a proper conversation.
Or, if it’s the start of a new school year, go in and meet
the teachers. Whoever you’re talking to, make sure
there’s time for you to explain everything properly
Make a list
Make a list of key points before you begin the
conversation. That way you can check off what you’ve
covered and you’ll be less likely to leave something out
Get professional support
If you find it is hard to explain tyrosinemia to the
people you deal with on a daily basis, ask your care
team to come to the meeting and help. If that’s not
possible, you could talk to your care team first and ask
them for some tips on talking to other people
Ask them to read up
After your conversation, suggest that the person
read up about tyrosinemia—you can ask your care
team to recommend some websites. Also, give them
any leaflets that are available, or give them a copy of
this book. The more information they have, the better
their understanding will be
Be patient
Don’t forget that most people haven’t heard
of tyrosinemia, so it might take them a while to
understand it. Tell them you can talk again if they have
any other questions
Conversation starters
Having trouble talking about tyrosinemia?
Try these opening lines:
“I know tyrosinemia can seem complicated. A big part of it is what a person
can and can’t eat. Let’s talk about it so everyone can relax and enjoy
being together.”
“I have a rare condition which means that I need a special diet. Apart from
that, I’m just like everyone else. Can we talk more about my diet and why it’s
so important?”
“Having tyrosinemia means that it’s very important to follow a special diet. It’s
nothing to worry about. But only certain things are okay to eat. If you want, I
can tell you a bit more about why a special diet is necessary.”
helping you manage
Even a taste of
some foods might
contain more protein
and tyrosine than
is allowed all
day
6 FACTS OTHER PEOPLE NEED TO KNOW
It’s best to keep it simple so they can take in the important information
1
4
2
5
Here are the key facts:
Tyrosinemia is an inherited condition
It’s called hereditary tyrosinemia type 1 (HT1), or
tyrosinemia, and it’s not contagious—it’s passed down
through families. It means that you cannot break down
a substance called tyrosine, found in protein, which is in
many foods. Eating protein causes harmful substances
to build up in the body.
Medicine is needed to stay healthy
Taking medicine called Orfadin® (nitisinone) helps
avoid complications such as long-term liver and
kidney damage.
3
Tyrosinemia requires a special diet
A low-protein diet is necessary to control how much
tyrosine is in the body and prevent complications such
as eye problems and problems with learning.
Please see accompanying Full Prescribing Information.
There are little-/no-protein, high-protein, and
low-protein foods
Safe foods are mostly fruits and vegetables. (See the
lists on page 18.) They can have special low-protein
prescription foods. High-protein foods include meat,
fish, eggs, dairy (such as milk, cheese, and yogurt), nuts,
beans, and legumes like soy.
Protein substitutes are necessary
A protein substitute (formula) is very important
because it provides all the amino acids, except tyrosine
and phenylalanine, needed for normal growth. Protein
substitutes provide vitamins and minerals such as iron and
calcium for healthy blood and bones. They are also very
important in helping to control tyrosine levels in the body.
6
Report all high-protein foods
Only appropriate foods should be eaten, but it
is especially important to be aware of and report any
high-protein foods. Ask your dietitian for advice.
21
22
What about
explaining
tyrosinemia to
schoolmates?
“The best approach is to be honest. Explain the condition and the
way it can affect people as simply as possible, using words they’ll
understand,” says Shauna Kearney, consultant clinical psychologist.
“You can then ask them if they have any other questions. It’s also
okay to tell them if you don’t know the answer to something, but that
you will ask somebody who does know.”
To learn about
the ways friends and
family members can
give support,
turn to page 28
helping you manage
In [elementary] school
some kids laughed at me
because I had to mix my
powders in baby food jars. But
now that they are more grown
up, they understand.
Solène, 14, who was diagnosed
with tyrosinemia when she was
2 months old
23
24
Meet your
care team
Doctor
1
Your family
doctor will
be involved
in other aspects of your
family’s health and is still
an important contact for
general healthcare.
2
3
People with tyrosinemia and their
families have lots of practical and
emotional support available to them
Clinical nurse specialist
Once diagnosed with
tyrosinemia, you may be
assigned to your own clinical
nurse specialist. As you may already know,
their role is to support you and your family
when it’s time to leave the hospital, give
guidance on things like taking medicine
and performing the heel prick test, and
emotional support. You may already
have an established relationship with this
person. You and your family can
always reach out whenever
you have questions.
Specialty hospital doctors
Someone diagnosed with tyrosinemia will
be referred to a specialty hospital doctor.
This may be a doctor who treats liver problems in
children, called a pediatric hepatologist. You may
also be looked after by a medical geneticist. These
doctors will confirm the tyrosinemia diagnosis, work
out the right treatment, and continue to monitor with
a variety of tests. They will adjust the doses of Orfadin®
(nitisinone), protein substitutes, and protein exchanges
as the child grows. Everyone with tyrosinemia will
usually need to see the consultant for a full check-up
and treatment review at least every 6 months.
IMPORTANT SAFETY INFORMATION
•Tell your physician promptly if you have unexplained eye symptoms, rash, jaundice (yellowing of the skin or whites of the eyes) or
excessive bleeding.
•Use ORFADIN during pregnancy only if the potential benefit justifies the potential risk to the fetus.
•Nursing women should discontinue either ORFADIN or breast-feeding based on the recommendation of your healthcare professional.
Please see accompanying Full Prescribing Information.
helping you manage
4
Dietitian
In many cases the
metabolic dietitian
will help you understand what
you need to know about the
special low-protein diet—
including free foods, low-protein
foods, protein exchanges, and
protein substitutes. The dietitian
will call with the results of every
blood test, including
the current blood
tyrosine level.
5
Psychologist/Social worker
Having trouble coping with tyrosinemia?
Speak to your doctor, dietitian, or clinical nurse
specialist. They may recommend seeing a psychologist
or social worker. “Many people can find it helpful to talk
about their worries,” says health psychology specialist
Dr Sumaira Malik.
Can a
psychologist
help?
“Every child with tyrosinemia is
different,” says Collette Stainforth, a
clinical nurse specialist. “Some need
no extra help at school. But others may
have some problems with learning,
ranging from mild to severe. The
school might contact us if they notice
any problems. Or we might notice
something during the routine clinical
visits and [recommend] a psychologist
from our clinical psychology team.”
25
26
Get the most from
your care team
It’s important you feel able to talk to
your care team. “If you trust them and
feel they really listen to you, you’ll feel
more confident,” says health psychology
specialist Dr Sumaira Malik. “Plus, you’ll find it
easier to follow their advice.” Here’s how to get
more from your care team.
ASK QUESTIONS
Nicky Mumford, a clinical nurse specialist, says, “We’re
used to answering the same questions over and over
again. New questions and issues will come up all the
time. But we don’t mind. We like answering questions.
It’s our job to help you understand.”
MAKE SURE YOU’VE UNDERSTOOD
“It’s very important you understand everything your
care team tells you about your child’s tyrosinemia and
its treatment, so if you don’t understand something,
say so,” says Shauna. “A useful phrase to remember
is, I’m not sure I understood that, could you please
explain it differently?”
My motto is that there’s
no such thing as a stupid
question. If I need to know
something, I just ask.
Brian, father of Grace, 11
FEEL FREE TO TALK
Over the years, as you get to know your care team
well, it is important to feel able to share any worries
and concerns with them. Be open. Write down
any questions you have and ask them at your next
appointment. “I enjoy getting to know families and
watching children with tyrosinemia do well as they’re
growing up,” says Nicky. “So if you’re experiencing
any problems or have any concerns or worries about
anything, please tell me. It’s my job to help you
find solutions.”
BE HONEST
Be totally honest with your care team. Tell them as
many details as possible, even when they include
mistakes with protein substitutes or exchanges. This
will help to prevent small problems from becoming
bigger. You can start by saying, “I feel embarrassed
telling you this,” and most care teams will tell you not
to worry. “If you’ve had a week where you’ve found
it hard to get organized with medication, protein
helping you manage
Yeah, it’s okay. I’ve built up a good relationship
with my dietitian.
Sam, 13
substitutes or protein exchanges, or collecting blood
samples,” says senior dietitian Anne Daly. “We’ll help
you find ways to get into a good routine and solutions
to what’s going wrong.”
GET INFORMATION TO TAKE AWAY
It’s a good idea to ask your care team to write down
any advice they have given you. This means that
when you get home you’ll know exactly what you
need to know about the medicine and the right
foods to make tyrosinemia treatment work as well as
possible. You can also ask your doctor or nurse if they
have any leaflets to give you or any websites they can
recommend, so you can read up about tyrosinemia
and its treatment after the appointment.
3 THINGS TO DO
BEFORE AN APPOINTMENT
1
Write down questions
“Between appointments,
write down questions as
you think of them and take
the list with you when you
go,” says health psychology
specialist Dr Sumaira Malik.
You’re more likely to ask
them if they’re written down.
Work out in advance which
questions are a priority, so
you can ask those ones first.
2
Keep a record
If tyrosine levels are
unstable, make a list
of medication, protein
substitutes, and foods that
have been eaten. This can
help both you and the doctor
get a picture of how the body
is dealing with tyrosine.
3
Ask a friend or family
member to join you
“People often say that when
they’re in a doctor’s office
they find it difficult to take in
lots of information,” says
consultant clinical
psychologist Shauna
Kearney. “This might be
due to nervousness, not
understanding the terms a
doctor uses, or because you
can’t concentrate.” Consider
taking a friend or family
member with you so you can
discuss everything with them
after the appointment.
27
28
Who else
can help?
SUPPORT GROUPS
Ask your care teams if they can put you in touch
with other families coping with the same condition.
“Tyrosinemia is such a rare disorder that families often
feel isolated. One of the most useful things we can do
is to organize family meetings and get local families
together to support one another,” says Collette
Stainforth, clinical nurse specialist. “Parents, siblings,
and the child with tyrosinemia find it so reassuring to
meet others who can really understand what they’re
going through. Plus it’s inspiring for them to see older
children thriving, going to school, and living life to the
fullest. It shows that the future can be positive.”
You can also ask your care team whether there
are national or online associations they would
recommend for you.
FRIENDS
“Your friends might not be able to understand exactly
what it’s like to raise a child living with tyrosinemia,
but they can still listen to you if you’re feeling down
and support you by encouraging you to think about
something other than tyrosinemia for a while,” says
Shauna. If you can focus on other things, you are likely
to feel more positive, which can reduce the impact of
tyrosinemia on family life. So you could:
Invite some friends over
Ask a friend to meet up regularly to play, go for
a walk, bike ride or run, or do an exercise class
Organize a night in with friends to watch a DVD
or a sports match with a team you all support
Sign up with a friend for an art, needlework,
creative writing, or language course
As well
as your child’s
care team, there are
other people around
who can support
you,”
says health
psychology
specialist
Dr Sumaira
Malik.
helping you
helping
manage
you manage
“They may
be able to help
in practical ways,
for example,
picking up
prescriptions,
or in emotional
ways, such as
listening to you
when you feel
worried.
FAMILY
“Having family members who understand all about
tyrosinemia and its diet can help you feel more
relaxed,” says Sumaira. “You may also find it helpful
to tell them how you’re feeling and talk about your
own needs.” They can collect medicine for you, make
a meal or go with you to appointments at the clinic.
Grandparents, aunts, uncles, and older siblings
can be ideal people to rely on for support.
ONLINE FORUMS
These can be a great way to meet other people
affected by tyrosinemia. You can browse the
chatrooms to see what people are talking about, or
join in. “People affected by the same condition can
often understand each other’s challenges and swap
useful information,” says Shauna. “These groups are
great if used alongside one-on-one professional help,
although they should never replace it. Other people
can give opinions and views, but are not medically
trained.” Ask your care team to recommend online
forums. There are groups active on Facebook, such
as The Network of Tyrosinemia Advocates (NOTA)
Support Group, which could also be valuable sources
of information and support.
29
30
Medical words
explained
Here’s a quick guide to some of the words
your doctor might use
AMINO ACID—a building block which makes up protein
C
ENTRAL NERVOUS SYSTEM—the brain and nerves that connect the
brain to the spine
D
IAGNOSIS—when your doctor decides what is wrong based on signs
and symptoms
ENZYME—a protein that carries out chemical reactions in your body
F
AH—another name for fumarylacetoacetate hydrolase, the enzyme
that people with tyrosinemia are missing
GENETICS—the science of how our genes influence growth and health
METABOLISM—your body’s ‘clock’ that keeps everything in order
N
ITISINONE—the active ingredient in the medicine given to people
with tyrosinemia
N
TBC—another name for the medicine that is prescribed for
people with tyrosinemia
O
RFADIN® (nitisinone)—the brand name of the medicine that is
prescribed for people with tyrosinemia
P
HENYLALANINE—one of the 20 amino acids that make up protein;
it is converted to tyrosine in the body
P
ROTEIN—an important nutrient that provides the body with long
chains of amino acids needed for growth and health
S
UCCINYLACETONE—a harmful substance that builds up in the body
if tyrosine levels in the blood are high
T
YROSINE—one of the 20 amino acids that make up protein; people
with tyrosinemia are unable to break it down
T
YROSINEMIA—a genetic disorder in which the body is unable to
break down tyrosine
Please see accompanying Full Prescribing Information.
helping you manage
HELPFUL RESOURCES:
The National Organization for Rare Disorders Physician’s Guide to Tyrosinemia Type 1
(http://www.rarediseases.org/docs/Tyrosinemia2_3_11.pdf)
Orfadin® (nitisinone) prescribing information
New Parents’ Guide to Tyrosinemia Type 1 (http://depts.washington.edu/tyros/pdfs/New_Parents_Guide_to_Tyrosinemia.pdf)
Introduction to Tyrosinemia Type 1 (http://tyrosinemia-uk.net/Content/Documents/Tyrosinemia%20Booklet.pdf)
University of Washington Biochemical Genetics Clinic, Tyrosinemia FAQs (http://depts.washington.edu/tyros/docs/about_faq.doc)
de Laet C, Dionisi-Vici C, Leonard J, et al. Recommendations for the management of tyrosinemia type 1 Orphanet.
J Rare Dis. 2013;8:8.
University of Washington. Biochemical Genetics Clinic, About Tyrosinemia (http://depts.washington.edu/tyros/abouttyr.htm)
Wilson CG, Van Wyk KG, Leonard JV, et al. Phenylalanine supplementation improves the phenylalanine profile in tyrosinemia.
J Inhert Metab Dis. 2000;23(7):677-683.
Tyrosinemia Low Protein Foods (http://tyrosinemia-uk.net/content/Documents/LPF.pdf)
Sniderman King L, Trahms C, Scott CR. Tyrosinemia Type 1, GeneReviews (http://www.ncbi.nlm.nih.gov/books/NBK1515/)
Pohorecka M, Biernacka M, Jakubowska-Winecka A, et al. Behavioral and intellectual functioning in patients with tyrosinemia type 1.
Pediatr Endocrinol Diabetes Metab. 2012;18(3):96-100.
A Babysitter’s Guide to Tyrosinemia (http://depts.washington.edu/tyros/pdfs/Babysitters_Guide_Tyrosinemia_03.pdf)
Barton J, Pretty J. What is the best dose of nature and green exercise for improving mental health? A multi-study analysis.
Environ Sci Technol. 2010;44(10):3947-3955. (http://www.greenexercise.org/Abstracts.html)
The ASIEM Low Protein Handbook for Tyrosinemia (http://www.hgsa.org.au/documents/item/49)
Please see accompanying Full Prescribing Information.
Let’s Talk Tyrosinemia is a support program for families of children with hereditary
tyrosinemia type 1 (HT1), prescribed Orfadin®. Let’s Talk Tyrosinemia was initiated and
funded by Sobi, and designed and managed by Atlantis Healthcare.
PP-0021 © Sobi, Inc. 2016.
All rights reserved.