Issue 127 mcardles disease helping a patient through a creative dietary approach

CONDITIONS & DISORDERS

MCARDLE’S DISEASE: HELPING A PATIENT THROUGH A CREATIVE DIETARY APPROACH Nishti Ismail Paediatric Dietitian New Cross Hospital, Wolverhampton

Nishti is a Freelance Dietitian and Founder of Nishti’s Choice.

Nishti Ismail, Dietitian, explains from personal experience how diet can help mitigate the symptoms of this debilitating disease.

Jodie always had a suspicion that something was not quite right with her daughter Lucy. At 16 months, Lucy was still not walking and always seemed to be in discomfort.

The suspicion became clearer when Lucy started nursery and was unable to keep up with the other kids. She would complain of pains in her legs and abdominal pain. The medical profession put this down to, “growing pains and urinary tract infections”.

At school, Lucy would refuse to take part in PE. This behaviour was labelled as, “attention seeking and lazy”.

Despite numerous visits to the GP and the paediatric assessment unit (PAU), Jodie did not feel that they were taken seriously until she showed a video of Lucy’s nightly muscle spasms. Three to four times each week, Lucy would wake up screaming in pain.

A blood test was carried out and it was thought that Lucy had muscular dystrophy since her creatine kinase (CK) levels showed up at 3,677IU/L (normal <200). Genetic tests were ordered and an urgent referral made to a specialist at Heartlands Hospital in Birmingham.

At age five years and four months, Lucy was diagnosed with a rare condition known as McArdle’s disease.

WHAT IS MCARDLE’S DISEASE?

Glycogen storage disease type V, known as McArdle’s disease and named after Dr Brian McArdle who described it in 1951, is a rare autosomal recessive disease. The condition is caused by a deficiency in myophosphorylase, the enzyme which converts muscle glycogen into glucose.1 McArdle’s disease therefore

results in a serious shortage of energy in the first six seconds to 10 minutes of activity, depending on intensity.

This can lead to premature fatigue, exaggerated heart rate, pain and muscle spasm. As a consequence, this patient group is at risk of rhabdomyolysis and acute renal failure.

THE ASSOCIATION OF GLYCOGEN STORAGE DISEASE (UK)

The Association for Glycogen Storage Disease (UK) (AGSD) aims to provide support to persons affected by glycogen storage disease and their families throughout the UK. According to Andrew Wakelin who volunteers for the Charity, “Almost all of us are first taken to the GP around the ages of four to 10.

Very few get past the GP, our parents being told it is nothing, not to worry, that we are unfit, or it is growing pains.”

This may explain why the prevalence has been estimated to be 1:100,000.

However, in the UK, it appears that less than half of cases are diagnosed as it often remains undiagnosed until 30 to 40 years of age.

THE EVIDENCE

Finding evidence to support an appropriate dietary approach has been difficult since the availability of robust evidence is limited.

High carbohydrate diet In a 2008 study, seven patients with McArdle’s were randomised to either a carbs-rich or protein-rich diet, with similar calorie intake. The diet consisted of 20% fat, 15% protein

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CONDITIONS & DISORDERS

The 1-2-3 Healthy Eating Approach. Small portion of carbohydrates (sautéed potatoes), medium portion of protein (spicy mackerel fillets) and a large portion of garden vegetables. and 65% carbohydrate, or 55% protein, 30% carbohydrate and 15% fat. When on a high carbohydrate diet, they showed improvement in exercise tolerance (significant drop in heart rate and work effort). However, limitations of this study include the small cohort and a short duration (three days). The participants were also not observed while following the diet and they were expected to prepare their own meals.2 A Cochrane review in 2014 confirmed that, to date, there are no nutritional treatments better than others in the symptom management in patients with McArdle’s disease.3 The limitation of this review is that it compared both pharmacological and nutritional treatments for McArdle disease, but only one study looked at nutritional therapy. This study happens to be the 2008 study mentioned above. This confirms the limited availability of appropriate studies in the effective dietary management of patients with McArdle’s disease.

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High protein diet In a case report in 1985,4 one adult with McArdle’s was put on a high protein diet and his exercise regime was changed. Exercise endurance improved, but it is unclear whether this was down to his diet or change in exercise.

Anecdotally, some patients do well on a high protein diet, some on high carbohydrate and some on a high fat diet. I had to, therefore, use my own clinical judgement in order to manage this patient most effectively DIETETIC MANAGEMENT

I decided to use an approach to healthy eating which I have devised myself. This is called the 1-23 Healthy Eating Approach and refers to, in my opinion, the main food groups (carbohydrates, protein and vegetables). I advocate including these at every meal, but to ensure that carbohydrates make up the smallest proportion.

In the case of Lucy, it only made sense to reduce her carbohydrate intake since her body didn’t allow her to convert muscle glycogen into glucose.

I do not consider fruit as part of the vegetable group since fruit contains fructose and contributes, therefore, to overall carbohydrate intake. I generally suggest no more than two to three portions of fruit a day (one handful = one portion approx). I also educate on fat and dairy separately, since I consider cheese to be protein.

I also educate on fats separately and encourage mono-unsaturated fats as the main source of fat, of course.

So, (1) refers to carbohydrates, protein the medium (2) and vegetables make up the largest portion (3). So, let me explain this in context.

Most people in the UK have a lunch that consists of a low fat sandwich, baked crisps and a piece of fruit. In my opinion, this is not a balanced diet.

The way to make this a 1-2-3 meal would be to do the following: two slices of wholemeal bread, protein of choice (tin of tuna or ham and cheese, etc) and a large side salad. Or let’s look at a jacket potato. A jacket potato with beans is essentially a very rich carbohydrate meal. The way to make this 1-2-3 would be the following: A) Handful size jacket potato with plenty of cheese/cottage cheese/tuna/prawns/chilli and a large side salad, OR B) Half a jacket potato with three to four tablespoons of baked beans and protein of choice, i.e. tuna/cheese/prawns and a large side salad.

I always make sure that I accommodate my advice according to the patient’s likes and dislikes and exercise levels.

For the Asian community, whose diet often tend to be high in carbohydrate, I suggest the following typical meal: • Chapatti x 2 with lamb curry or vegetarian curry, i.e. mixed vegetables (with added potatoes).

• Make it 1-2-3 by adding a vegetable curry (no potato) WITH the lamb curry and, similarly, add protein with the vegetarian meal. So, basically ensure the food groups are included in the meal (carbohydrate, protein and vegetables).

I always stress the importance of making the vegetable portion the largest. I also encourage ‘better’ carbohydrates, such as Basmati rice and

makki di roti, since these are low glycaemic index (GI) foods. Alternatively, mix chapatti flour with garam flour to increase the protein content and therefore increase the GI of the meal.

Rice and daal make mainly a carbohydrate meal, so what I suggest is to add protein with it, i.e. paneer, or Greek yoghurt, or eggs etc. The Asian vegetarian diet is often low in protein and I have found that the 1-2-3 is super easy to implement to make meals more balanced. The 1-2-3 isn’t rocket science, it’s just healthy eating made simple. This method is so easy and quick to understand and kids and adults love it.

LUCY AND THE 1-2-3

I thought this method would suit Lucy well since it’s fun and easy to implement and it ensures that an adequate amount of carbohydrate is consumed.

Lucy was advised to include carbohydratefree snacks where possible, such as carrot and cucumber sticks, tomato and ham or cheese. I also made it clear that on very active days, Lucy may need and want more carbohydrates, which is ok. I strongly encourage my patients to listen to their body and the sensations and signals it sends.

Lucy has been following the 1-2-3 since late 2015 and the results have been astonishing.

WHERE DID THE 1-2-3 HEALTHY EATING APPROACH ALL START?

It was initially an educational approach that I first started to use in women with gestational diabetes. I found that people struggle to understand what and how much to eat with each meal and how important it is to combine food groups to avoid a post prandial rise in blood sugars. NICE 5 advocates low GI carbohydrates, but does not specify the quantity. The Eat Well Guide6 isn’t necessarily any clearer, since it does not indicate portion sizes at each meal.

Via the 123, I wanted to make it practical and easy for patients to understand healthy eating, since it doesn’t involve calorie counting or even carbohydrate counting. The feedback I have had from patients so far is that it is straightforward to use and it gives flexibility to still enjoy food.

The 1-2-3 Healthy Eating Approach is not a low carbohydrate diet, it is a healthy diet made easy to follow. It does comply with NICE guidelines in the sense that it specifies the use of low glycaemic www.NHDmag.com August/September 2017 - Issue 127

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CONDITIONS & DISORDERS Table 1: Lucy’s weight changes since dietetic input commenced Month

Weight (kg)

Height (cm)

BMI (centile)

October 2014

21.3 (75th centile)

107 (25th centile)

>91st

October 2015

23.6 (75th centile)

112.5 (25th centile)

>91st

February 2016

23.4 (75th centile)

115.8 (25th centile)

>91st

May 2016

24.1 (75th centile)

115.9 (9-25th centile)

91st

Table 2: The composition of Lucy’s diet and how it has changed Food group

Before (%)

After (%)

Carbohydrates

60-68

37-49

Protein

7-9

17-24

Fat

24-30

16-28

Total Kcal

1802-2312

1060-1792

carbohydrates, plenty of vegetables and healthy protein sources, such as oily fish and lean meats.

Meals are still based on carbohydrates, but the portion has been specified. The 1-2-3 Healthy Eating Approach may not have been researched yet. However, I have started to collect data of all the women who managed to avoid going on to metformin and even avoid insulin by following the 1-2-3 Healthy Eating Approach. The diabetes consultants are very eager for me to carry out a clinical study in our patient group with gestational diabetes which I have willingly agreed too - an exciting project of mine at the moment.

I want to emphasise the following: I always encourage patients and private clients that more carbohydrates are often needed if they are very active. I also specify that eating 1-2-3 is a lifestyle and not a diet. It’s supposed to be fun, no sin or guilt is allowed and I always bring in the importance of mindfulness. Personally, I eat more carbohydrates according to my visits to the gym and the amount of yoga I manage to fit it.

THE RESULTS FOR LUCY

So far, for Lucy and her family, the 1-2-3 Healthy Eating Approach has been life changing. Her muscle spasms have reduced to approximately once every three weeks and her wheelchair use has almost ceased. In fact, her whole family is now using the 1-2-3 and her mother Jodie has lost more than 10kg in weight with the help of this healthy eating approach.

CONCLUSION

I think as dietitians we must be creative in the way we communicate with our patients. I don’t believe one standardised message for healthy eating is the way forward.

I personally believe it is best to provide an individualised approach across all patient groups and, just because the 1-2-3 may work for some, it doesn’t necessary work for everyone. It’s time to think outside the box as the mind works better when it’s open - like a parachute!

References 1 McArdle’s disease; Medical Overview. Accessed online: www.agsd.org.uk/portals/32/images/mcardles/medical_overview_dec2015.pdf (February 2017) 2 Andersen ST and Vissing J (2008). Carbohydrate and protein-rich diets in McArdle’s disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry 2008;79:12 1359-1363 3 Qunlivan R, Martunuzzi A (2014). Pharmacological and nutritional treatment for McArdle’s disease (glycogen storage disease type V). Cochrane database of systematic reviews. Issue 11. Accessed online: http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD003458.pub5/abstract;jsessionid= 0AD2B7782199C43BE0B632E577FBAEEF.f04t02 (January 2017).

4 Slonim AE, Groans PJ (1985). Myopathy in McArdle’s Syndrome. Improvement with a high-protein diet. N Engl J Med 1985; 312:355-359 5 NICE (2015). Diabetes in Pregnancy Guideline: management from preconception to the postnatal period. NICE guidelines [NG3]. Accessed online: www.nice.org.uk/guidance/ng3 (September 2016) 6 The Eatwell Guide. Accessed online: www.nhs.uk/Livewell/goodfood (September 2016)

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