Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
helping you manage 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® Summary of Product Characteristics Orfadin® Patient Information Leaflet 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) Managing 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) Tyrosinemia 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 (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) Your simple guide to tyrosinemia, its treatment, and special diet 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. 99682_CVR.indd 1 SOBIUK/ORF/2015/PP-0021 Date of preparation: 2015 5/21/15 2:32 PM 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 all of the 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. W We hope you find it useful. Dr Sumaira Malik, health psychology specialist Please see accompanying Full Prescribing Information. 99682_CVR.indd 2 5/21/15 2:32 PM helping you manage How to use this book This is your guide to all the important basic information you need to know about tyrosinemia. 99682_TXT.indd 3 Remember: you can look back through this book at any time 3 IT INCLUDES: Facts about tyrosinemia and the diet you have to follow Easy lists of foods you can and can’t have Tips on how to explain tyrosinemia to other people Ideas on getting the most from your care team 5/21/15 2:29 PM 44 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 safe 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. Please see accompanying Full Prescribing Information. 99682_TXT.indd 4 5/21/15 2:29 PM 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 55 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. 99682_TXT.indd 5 5/21/15 2:29 PM 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: 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. 99682_TXT.indd 6 5/21/15 2:29 PM helping you manage 7 Turn to page 10 for more information about managing diet and medicine 1 The drug Orfadin® (nitisinone) is prescribed and taken 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. 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? 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. They won’t need to restrict their education, their activity levels, or their social life in any way. 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 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. 99682_TXT.indd 7 5/21/15 2:29 PM 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. 99682_TXT.indd 8 5/21/15 2:29 PM 9 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, peas or 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. 99682_TXT.indd 9 5/21/15 2:29 PM 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. These practical tips will 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. 99682_TXT.indd 10 5/21/15 2:29 PM helping you manage 11 It is very important to make sure to… … take Orfadin® (nitisinone) regularly. It stops the buildup of tyrosine in the body. … 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. 99682_TXT.indd 11 5/21/15 2:29 PM 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 between 200 and 400 µmol/L and phenylalanine levels within normal levels between 30 and 100 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: At least every 6 months, everyone with tyrosinemia needs to have a complete check-up at the clinic so that treatment can be reviewed. Blood samples are taken to check that the treatment 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 Please see accompanying Full Prescribing Information. 99682_TXT.indd 12 5/21/15 2:29 PM helping you manage 13 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 0.5 mg and 1 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. 99682_TXT.indd 13 5/21/15 2:29 PM 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. 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) “If these foods are eaten in normal amounts, blood tyrosine levels will be high and that may cause health problems,” says Dr Patrick McKiernan. 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. 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. 99682_TXT.indd 14 5/21/15 2:29 PM helping you manage 15 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’ 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. “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 99682_TXT.indd 15 5/21/15 2:29 PM 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. As you go round 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. 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 99682_TXT.indd 16 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 Please see accompanying Full Prescribing Information. 5/21/15 2:29 PM helping you manage 17 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 99682_TXT.indd 17 5/21/15 2:30 PM 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 99682_TXT.indd 18 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 L ow-protein bread, rice, 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 5/21/15 2:30 PM helping you manage 19 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 prawns 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 Please see accompanying Full Prescribing Information. 99682_TXT.indd 19 5/21/15 2:30 PM 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 a dinner, ask if you can agree on a time and place for a proper chat. 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 chat, suggest that the person read up about tyrosinemia—you can ask your care team to recommend some web sites. 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.” 99682_TXT.indd 20 5/21/15 2:30 PM helping you manage 21 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. 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. Please see accompanying Full Prescribing Information. 99682_TXT.indd 21 5/21/15 2:30 PM 22 What about explaining tyrosinemia to schoolmates? To learn about the ways friends and family members can give support, turn to page 28 “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.” Please see accompanying Full Prescribing Information. 99682_TXT.indd 22 5/21/15 2:30 PM helping you manage 23 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 99682_TXT.indd 23 5/21/15 2:30 PM 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 how to carry out 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 do monitoring 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. 99682_TXT.indd 24 5/21/15 2:30 PM 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. 99682_TXT.indd 25 25 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.” 5/21/15 2:30 PM 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. 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 Brian, father of Grace, 11 Please see accompanying Full Prescribing Information. 99682_TXT.indd 26 5/21/15 2:30 PM helping you manage 27 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 web sites 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. 99682_TXT.indd 27 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. 5/21/15 2:30 PM 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: As well as your child’s care team, there are other people around who can support you,” says health psychology specialist Dr Sumaira Malik. 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 Please see accompanying Full Prescribing Information. 99682_TXT.indd 28 5/21/15 2:30 PM 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. 29 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. 99682_TXT.indd 29 5/21/15 2:30 PM 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. 99682_TXT.indd 30 5/21/15 2:30 PM helping you manage 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® Summary of Product Characteristics Orfadin® Patient Information Leaflet 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) Managing 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) Tyrosinemia 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 (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) Your simple guide to tyrosinemia, its treatment, and special diet 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. 99682_CVR.indd 1 SOBIUK/ORF/2015/PP-0021 Date of preparation: 2015 5/21/15 2:32 PM helping you manage 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® Summary of Product Characteristics Orfadin® Patient Information Leaflet 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) Managing 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) Tyrosinemia 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 (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) Your simple guide to tyrosinemia, its treatment, and special diet 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. 99682_CVR.indd 1 SOBIUK/ORF/2015/PP-0021 Date of preparation: 2015 5/21/15 2:32 PM