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Edition 1 October 2018 The CATS team would like to say a huge thank you to Dr Elaine Murphy of the Charles Dent Metabolic Unit at The National Hospital for Neurology and Neurosurgery for her hard work freely given checking our Top Tips Association for Glycogen Storage Disease UK Ltd Old Hambledon Racecourse Sheardley Lane Droxford SO32 3QY www agsd org uk Registered charity no 1132271 Association for Glycogen Storage Disease UK Ltd 2013 15 All rights reserved No part of this publication may be reproduced stored in a retrieval system or transmitted in any form or by any means electrical mechanical or otherwise without first seeking the permission of the copyright owners

What is Cori Disease Cori disease is a rare disease of varying severity affecting primarily the liver heart and skeletal muscle It is caused by deficient activity of glycogen debranching enzyme which is a key enzyme in the breakdown of glycogen The condition has a wide clinical spectrum Children are often diagnosed when a swollen abdomen due to a large liver is noticed Patients may also have low blood sugar a high level of fats in the blood and delayed growth Symptoms related to liver disease and progressive cardiac and skeletal muscle involvement vary in age of onset rate of disease progression and severity 3

Who Wrote the Book The CATS Cori Action Team Support CATS is a group of patients and carers who have got together to support those affected by Cori disease As well as supporting patients and families we aim to be active in recognising and promoting the needs of Cori patients with medical staff through the work of AGSD UK If you would like to know more or ask for some help contact 0300 123 2792 or email cats agsd org uk 4

Ailsa Arthur Trustee AGSD UK Ailsa has twenty years experience of supporting her son with Cori s Disease She feels patient and family involvement are crucial to help improve treatment and support She is very keen to take an active involvement in getting recognition and awareness of this little known condition out to the public Nikki Christie I was diagnosed with Cori s Disease 51 years ago although my life has changed somewhat over the last 7 years I am learning to cope with my new limitations due to muscle deterioration Despite my limitations I am still working full time and leading a different but happy life I am eager to try and help to find ways to help adults experiencing the same difficulties as well as helping parents with newly diagnosed children 5

Sylvia Wilson Type III co ordinator I have a granddaughter diagnosed with Cori s disease She lives abroad and it took almost a year to get her diagnosis She was the first case her hospital had dealt with It was a very frightening time for the family and I took to the internet to research the disease After much research I eventually came across AGSD UK I was warmly welcomed into the GSD family I attended my first conference not sure what to expect but it was such a positive and informative occasion I would urge everyone to attend if they can GSD has been a steep learning curve I m interested in genetics and the view that carriers can also display aspects of the disease I joined CATS to help other people cope with this disease 6

Gary Andrea and Lauren Thompson Lauren is 18 years old and our only child Lauren was diagnosed with GSD type 3 at the age of 11 months Over the last two years Lauren has been taking daily doses throughout the day of Glycosade and protein powder This year 2018 Lauren is making the transition from the Children s to Adults Hospital We have had many many concerns to deal with over the previous years including working with CAMHS Child Adults Mental Health Services and we have worked together to support and encourage Lauren in how to deal with her issues We have joined CATS team to help others by sharing our own knowledge with those who have been diagnosed with GSD type 3 7

The Tips in this Book The tips in this book were collated from many people with Cori disease from all over the world and are there to help parents who have children with Cori disease newly diagnosed patients and adults that are learning to cope with myopathy Hopefully you will find this book useful and find some tips that are new to you There is a glossary at the back to help you with any unfamiliar words 8

They are just tips First before reading this book make sure you have the correct diagnosis Then remember we are all affected in different ways by Cori Assess each tip individually and think about whether it suits you Disclaimer Use this book as a guide it should not be replaced for personalised medical advice from your Cori medical consultant Research is still ongoing to gain further knowledge of Cori disease Please check the AGSD UK website to read any updates to this book 9

Using this book Glycogen storage disease type III GSD III previously known as Cori disease Top Tips These tips are intended as a guide only Please discuss any specific queries with your medical team or dietitian Remember that individuals with GSD III will vary in the severity of their disease and so not all these tips may be relevant to you There are four forms of GSD III GSD IIIa affects liver and muscle low blood glucose muscle symptoms GSD IIIb affects liver only low blood glucose GSD IIIc affects liver and muscle GSD IIId affect liver If you are unsure which type of GSD III you have then ask your medical team or dietitian The tips with a blue star are more specific for GSD IIIa and may not be so relevant for individuals with GSD IIIb 10

Shopping 11

1 Shopping When doing your shopping try to think about including some protein in every meal 12

Shopping 2 Make your own information card for shopping include foods you can and cannot eat and your likes this will make shopping much easier 13

3 Purchase an SOS Bracelet or download a medical ID app onto your smartphone 14

4 Shopping Use shopping apps that support AGSD UK 15

Emergencies 16 16

Emergencies You can apply for a free message in a bottle in case of an emergency 5 www scas nhs uk news campaigns message in a bottle 17

6 Emergencies Smart phone Keep medical ID in this section paramedics will look for this in an emergency situation 18

Emergencies Smart phone use the ICE In Case of Emergency number 19 7

8 Emergencies The British Inherited Metabolic Disease Group have published agreed guidelines on the emergency management of GSD III 20

These are freely available on their website www BIMDG org uk 21

Prescriptions 22 22

Prescriptions Uncooked cornstarch cornflour can be obtained on prescription Ask your dietitian or GP 23 9

10 Prescriptions Protein powder can be obtained on prescription Ask your dietitian or GP 24

Prescriptions You may be exempt from prescription costs See eligibility here 11 www nhsbsa nhs uk exemption certificates medicalexemption certificates Speak to your pharmacist for further details 25

12 If you are not exempt from prescription charges then you may want to purchase a prepayment certificate to reduce the cost https apps nhsbsa nhs uk ppcwebsales patient do Speak to your pharmacist for further details 26

Monitoring your GSD 27 27

13 Monitoring your GSD At 18 although you are an adult if you wish you can tell your medical team that they CAN talk to named people e g parents about your condition 28

Monitoring your GSD 14 Keep a running notebook of all your medical appointments so you can remember who said what and when 29

15 Monitoring your GSD Keep a record in a notebook of how you are affected daily this will help if and when you have to complete benefit claims such as ESA or PIP 30

Monitoring your GSD 16 Keep any letters that consultants have copied you in on these can also be used to help to support PIP or ESA claims 31

17 Monitoring your GSD Take videos of your worst days these can also be used to support PIP and ESA claims Make sure videos are dated correctly Videos cannot be used for DWP evidence but can be a reminder and help to complete the forms 32

Monitoring your GSD 18 Very rarely blood sugar levels are difficult to control in GSD III if this is you you might want to consider a sensory support dog 33

Gastrostomy PEG Tubes 34 34

Gastrostomy PEG Tubes Keep it clean and follow the guidance for care of your tube 19 A few people might need a gastrostomy or PEG tube This will be discussed with your doctor 35

20 Gastrostomy PEG Tubes Speak to your local nutritional care teamcommunity nurses they can help a lot Your dietitian or GP can refer you 36

Dentist 37 37

21 Dentist Keeping your mouth open can be painful Ask for a mouth prop 38

Dentist 22 If your diet includes a lot of carbohydrate or sugar then see a dental hygienist regularly 39

Exercise 40 40

Exercise 23 In some parts of the UK you can self refer yourself for physiotherapy which may lead to a course of hydrotherapy which can benefit muscle pain and weakness www nhs uk conditions physiotherapy Ask your GP or consultant 41

24 Exercise Don t exercise on an empty stomach 42

Exercise 25 Be careful not to push to the maximum take regular breaks and explain to others why you need this 43

26 Exercise Swimming Take regular breaks and use a clear dressing over stoma sites 44

Exercise 27 It is important to keep exercising If you don t use it you will lose it 45

28 Exercise Get a dog or walk a friend s dog When walking take rests and snack on route 46

Exercise 29 Walking up hills take the gentler route even if longer and zig zag Take the gentler route through life 47

30 Exercise Avoid dehydration during exercise to reduce the risk of muscle cramps 48

Exercise Consider an e bike if you find standard cycling too strenuous 49 31

Diet 50 50

Diet 32 If you do not have a dietitian find one Ask your GP to refer you to a dietitian who knows about GSD III 51

33 Diet Don t be afraid to ask your dietitian questions or talk to them if you are finding it hard to manage your diet 52

Diet 34 Eggs chicken pork and lean beef are good protein source 53

35 Diet Fish and seafood are good sources of protein and are typically low in fat 54

Diet 36 Salmon and other oily fish have a slightly higher fat content compared to white fish because they contain omega 3 fats 55

37 Diet Use minimal fat when cooking protein rich foods use a spray oil to stir fry or pan fry 56

Diet 38 Reduced fat dairy products such as lowfat or fat free yoghurt lower fat cheeses and semi skimmed or skimmed milk are all good sources of protein 57

39 Diet Unsalted nuts and seeds are a practical protein choice if you re on the move but do contain fat 50 pistachio nuts 35g provides 6g of protein 58

Diet 40 Use nut butters on toast instead of jam or honey 59

41 Diet Sprinkling seeds on salads will boost protein content 60

Diet 42 Beans and pulses are cheap protein sources Add them to stews soups and casseroles 61

43 Diet Quorn is a good source of non animal protein 62

Diet 44 If you are eating out in an Indian restaurant the tandoori option will be higher in protein and contain less fat 63

45 Diet Slow release or low glycaemic index GI carbohydrates are broken down more slowly so can be helpful for maintaining blood sugar levels 64

Diet 46 Oats are a good source of low GI carbohydrate try porridge or overnight oats for breakfast 65

47 Diet Granary wholemeal sourdough and rye bread are all low GI therefore good to try instead of white or brown bread 66

Diet 48 Both wholewheat and white pasta are low GI carbohydrates but wholewheat contains more fibre 67

49 Diet Berries are a better low GI fruit option including frozen 68

Diet 50 Many fruits are low GI including apples oranges and pears 69

51 Diet Milk contains both protein and also low GI carbohydrate so can be helpful for managing blood sugar levels 70

Diet 52 Small portions of breakfast cereal can be a handy carbohydrate snack at school 71

53 Diet In general try to limit sugary foods in your diet except in situations to treat hypoglycaemia where quickly released carbohydrates such as sugar is important 72

Diet 54 Natural sugar is still sugar aim to limit portion sizes of foods that contain a lot of natural sugars such as fruit juice and honey 73

55 Diet Some reduced fat products can often have added sugar check the label 74

Diet 56 Always check food labels and keep checking them because food manufacturers change their recipes 75

57 Diet Try sweeteners such as Xylitol or Stevia as alternatives to sugar 76

Diet 58 Don t forget savoury products often contain high levels of sugar eg tinned soups or ready made sauces 77

59 Diet Check all ingredients on tins and packaging to avoid added sugars 78

Diet 60 Be cautious with alcohol as this can lower blood sugar levels avoid this before exercise and be sure to have this with food Limit your intake to 1 2 drinks with a meal 79

At Home 8080

At Home 61 Batch cooking If you make complicated measured meals make a lot and freeze portions 81

62 At Home Contact your local occupational health therapist They will help with making sure you are equipped with any aids and supports to help maintain your independence around the house Ask your GP or physiotherapist for a referral 82

Daily Activities 83 83

63 Daily Activities Don t wait until your blood sugar is low eat small amounts regularly 84

Daily Activities Education 64 Consider whether your child needs extra time to complete exams or assignments Ask for extra breaks during exams to eat drink if needed 85

65 Daily Activities Education Consider an Education Health Care Plan speak to AGSD UK and your medical team for supporting letters 86 86

Daily Activities 66 Wear a backpack not a shoulder bag or handbag this will be easier for you to manage if you have muscle weakness 87

Support Benefits 88 88

Support and Benefits 67 Consider PIP and ESA get professional support letters as evidence DWP might not understand your condition Speak to AGSD UK 89

68 Support and Benefits Benefits Don t give up understand the system and make your case within the rules REMEMBER Many PIP claims are refused first time so fill in the form carefully and with lots of detail Be prepared to appeal the decision if you feel it is incorrect 90

Support and Benefits 69 Understand that complex feelings happen around inherited conditions there is no shame or guilt in genetics 91

70 Support and Benefits AGSD UK will help you 92

Support and Benefits 71 Don t be afraid to reach out to as many support agencies as you can GSD is now officially under the Muscular Dystrophy umbrella You can get help from M D U K group now too 93

72 Support and Benefits Government scheme Access to Work will help with any aids and support you in your fight to stay in work www gov uk access to work 94

Support and Benefits 73 Keep fighting for the best care the best doctor the best consultant Not everyone is a GSD expert 95

74 Support and Benefits If the time comes that you need to use a wheelchair try not to feel embarrassed mobility aids are there to help you not make you feel worse 96

Support and Benefits 75 Reach out for support try Facebook there are several different groups you can join Adults with Glycogen Storage Disease Behind The Mystery Rare Genetic Diseases Glycogen Storage Disease type III Glycogen Storage Disease in the UK and Ireland You are not the only one find a friend 97

Spread the word 98 98

Spread the Word 76 We need to raise awareness of our rare condition Tell everyone about GSD You never know who might be listening 99

77 Spread the Word Talk to schools and groups as appropriate about GSD Most people are interested and will support you If they don t know they can t adapt their provision or behaviour 100

Travel 101 101

78 Travel Preparation is key 102

Travel 79 Make sure you have enough cornstarch and or protein powder for your entire trip including possible delays 103

80 Travel Make sure you have appropriate travel insurance See AGSD UK website or phone for advice 104

Travel 81 Even if you are making a car journey make sure you always have a snack with you 105

82 Travel Research research research Make sure your holiday destination has wheelchair access if needed 106

Travel 83 If travelling abroad your power chair charger may not be compatible with foreign voltage 107

84 Travel It may be easier to hire a wheelchair when you arrive instead of taking yours with you Power chair joysticks are very fragile and may get damaged in transit 108

Travel 85 A really useful travel site for wheelchair users www curbfreewithcorylee com 109

86 Travel Ask your dietitian or doctor for a customs letter before flights this will allow you to take medications cornstarch or protein powder on board the plane as hand luggage if needed 110

Other Tips 111 111

87 Other Tips Do not underestimate how much hypoglycaemia can affect intellectual and emotional states as well as physical ability 112

Other Tips 88 Everyone is different including everyone with GSD III pay heed to your own body and reactions and don t uncritically accept what others do 113

89 Other Tips Be adaptable and attentive symptoms and tolerances change with time and age 114

Useful Links 115 115

Access to Work www gov uk access to work atwosu london dwp gsi gov uk Association for Glycogen Storage Disease UK www agsd org uk Citizens Advice Bureaux www citizensadvice org uk Carer s Federation www carersfederation co uk services counselling Carer s Trust www carers org CEA Card Cinema Exhibitors Association www ceacard co uk Disability rights www gov uk rights disabled person overview 116

Disabled Railcard www disabledpersons railcard co uk Raise Funds for Charity with your everyday shopping www giveasyoulive com Motability www motability co uk Aids for daily living www dlf org uk Reasonable Adjustments in the workplace www equalityhumanrights com your rights employment work place adjustments www gov uk reasonable adjustments for disabledworkers Disabled students allowance www gov uk disabled students allowances dsas overview 117

Self referral Physiotherapy Hydrotherapy www nhs uk conditions pysiotherapy Joining Groups www facebook com Travel Site for wheelchair users www curbfreewithcorylee com Better Mobility www bettermobility co uk charity_funding_options php Online Self Help for Depression Anxiety www moodgym anu edu au Online Courses to manage Anxiety Stress www llttf com Free Legal Advice for Disabled Carers www dls org uk 118

National Database of Volunteering Opportunities www do it org Organised Walks Group for people with Mental Physical Health problems www walkingforhealth org uk 119

A Z Glossary 120 120

Blood Glucose The amount of glucose that is in your blood Protein Nutrient Essential nutrients for the human body They are one of the building blocks of body tissue and also serve as a fuel source As a fuel proteins contain 4 calories kcal per gram just like carbohydrates but unlike fats which contain 9 kcal per gram The defining characteristic of protein from a nutrition standpoint is its amino acid composition SOS Bracelet An bracelet available to buy containing your personalised medical information and emergency contact numbers Personal Independent Payment PIP A UK government benefit that helps with some of the extra costs caused by long term illness ill health or a disability if you re aged 16 to 64 The rate depends on how your 121

condition effects you not the condition itself You ll need an assessment to work out the level of help you get ESA Employment and Support Allowance ESA is for people of working age who cannot work because of illness or disability Entitlement usually depends upon your National Insurance record except for some young adults and may be subject to a medical assessment Gastrostomy PEG tubes PEG stands for percutaneous endoscopic gastrostomy a procedure in which a flexible feeding tube is placed through the abdominal wall and into the stomach PEG allows nutrition fluids and or medications to be put directly into the stomach bypassing the mouth often used for children with eating problems 122

Physiotherapy A therapy to help restore movement and function when someone is effected by injury illness or disability A neuromuscular physiotherapist would be needed to teat a person with Cori disease Cori Disease Another name for GSD lll in honour of the 1947 Nobel laureates Carl Cori and Gerty Cori Cori disease is a rare disease of variable severity affecting primarily the liver heart and skeletal muscle It is caused by deficient activity of glycogen debranching enzyme which is a key enzyme in the breakdown of glycogen Forbes Disease Another name for GSD lll in honour of American clinician Gilbert Burnett Forbes Dehydration Dehydration happens when your body doesn t have as much water as it needs Without enough your body 123

can t function properly You can have mild moderate or severedehydration depending on how much fluid is missing from your body Dietician A dietician is a degree qualified health professional who helps to promote nutritional well being treat disease and prevent nutrition related problems They provide practical safe advice based on current scientific evidence GI GI stands for glycaemic index It is a rating system for foods containing carbohydrates It shows how quickly each food affects your blood sugar level when that food is eaten on its own Glycemic Load The glycemic load GL of food is a number that estimates how much the food will raise a person s blood glucose level after eating it One unit of glycemic load approximates the effect of consuming one gram of glucose Foods can be referred to as having high or low GL 124

Occupational Health Therapist Occupational therapists provide practical support to help children and adults of all ages with mental physical social or learning disabilities to independently carry out everyday tasks or occupations with more confidence and independence Department for Work and Pensions The Department for Work and Pensions DWP is responsible for welfare pensions and child maintenance policy As the UK s biggest public service department it administers the State Pension and a range of working age disability and ill health benefits Hypoglycemia Hypoglycemia refers to an abnormally low level of sugar or glucose in the blood Signs of low blood sugar include hunger trembling heart racing nausea and sweating becoming easily irritated tearful stroppy or moody 125

Notes