Sanah Rauf:  Welcome to this webinar about nutrition and diet in SMA. My name is Sanah and I live with SMA Type 2. We are very thankful for our two experts, Graeme and Isla, who have joined us today for this important discussion. I will let you guys introduce yourself, so let’s go with Graeme first.  

Graeme O’Connor: Hello, my name is Graeme O’Connor and I’m the Research Lead for Dietetics at Great Ormond Street.  

Sanah Rauf:  That’s great. Thank you so much for joining us today, Graeme. And over to you, Isla.  

Isla Foote:  And hello, my name is Isla and I’m one of the dietitians at Great Ormond Street, and I am currently working as part of the Neurology and Neuromuscular Service which sees our patients diagnosed with the SMA. 

Sanah Rauf:  Amazing. Thank you so much, Isla. Sounds like you both have exactly what we need and the expertise to answer all our questions about diet and SMA. We’re here today because SMA UK are receiving an increasing amount of questions about diet and nutrition in SMA. In my own experience, I have struggled with weight gain, so I’ve had like different protein shakes and different supplements, and I have also experimented with being plant based and then switching between eating meat again. So either, what recommendations would you give to someone living with SMA and how to maintain a healthy weight? 

Isla Foote: Thank you so much for sharing your experience, Sanah. So what I’m going to do is I’m just going to share my screen and run through a couple of slides on things that we frequently see with SMA, and how we can help with that. So I’m just going to run through a couple of quick slides on nutritional considerations for people living with SMA. So firstly, what we frequently see here at Great Ormond Street Hospital, so our referrals mainly kind of fall into two types of, yeah, issues. So firstly, we see children that are having issues with weight gain, so that’s faltering growth and poor weight gain. So often they present with, yeah, faltering growth due to difficulties with posture and swallowing problems. Often we look at things like, you know, how can we optimize their diet, which I’ll go through in a bit more detail in a few more slides. But we also can look at things like you touched on Sanah, like oral nutritional supplements as well as things like enteral feeding. I won’t dive too much into enteral feeding today, but if you’ve got any questions, do let us know. The other side we look for is weight management. So just making sure that people are not at risk of obesity just because that does impact things like mobility and can also increase the risk of obesity related comorbidities such as high cholesterol, blood pressure and diabetes.  

Research has shown that people that have got SMA have got altered body composition. Findings from some studies have shown that fat mass, but not fat free mass, increase with age, suggesting that growth can sometimes be driven by increase of body fat rather than growth and maturation of skeletal muscles. So that’s just where that weight management just needs to be closely monitored to make sure that we’re optimizing things like ability to move and things such as that. It also just means that we need to be mindful when looking at growth charts and comparing to things like BMI. So what we essentially want to be looking at is the balancing act of weight control. So when we talk about weight control, there are two sides of this seesaw we can think about it like. So calorie intake, so that’s things such as meals, drinks and snacks. Often things that we see, you know, with people, for example, with faltering growth, is meals are often less calorie dense than calorie burn.  

So on the other side of the balance we see your calorie burn that’s impacted by things like body function, daily activity and exercise. Some studies have shown that people that have got SMA have got a reduced energy expenditure compared to other people. So we just need to be mindful of that as well as reflecting the unique body composition that I talked about earlier on. Other things in this kind of equation that we need to consider that are specific to SMA, I think We know that we’ve had some studies showing that nusinersen increases resting energy expenditure and can have some positive impacts on fat free mass. However, the research is still pending, so we will keep you guys updated with what comes with that. We also see that sometimes nusinersen and risdiplam can actually increase things such as appetite. So again something that we need to be mindful of that scale, as well as other side effects that can come along with some other medications such as constipation and vomiting, which again can impact the intake side. And I did kind of touch on the differing amount of calories. So when we look at the scale, we talk about the calories needed for body function. Everyone needs a certain number of calories to sustain basic life function, so things like breathing, thermoregulation, metabolic homeostasis. And that differs for people that are sitters, non sitters, walkers and things like that. 

So firstly I’m going to touch on strategies to help gain weight. So often what we find is the calorie intake is less than the calorie burn. So often this is due to things such as small portions. People are finding difficulties with fatigue and swallowing, as well as needing to modify the foods in order to make them easier to chew and swallow. In terms of kind of this presentation, the one thing I really want to emphasize is that finding something that works for you and your lifestyle is super important. Graeme is going to touch on evidence in regards to specific diets and things like that a little bit later on, but nutrition is very personalized and very individualized, and I think these are really good examples of some things that you can take away and kind of adapt into your current eating and drinking patterns. 

So firstly, the main thing, like I said, that I often see are children struggling with fatigue and low appetite… So some strategies to help with that is we find that often smaller, more frequent meals are better tolerated. Sometimes looking at a plate full of, you know, all this food can be quite overwhelming, especially when you don’t have the energy for it. That also can be quite good if you’re struggling with things like posture. So obviously, as you eat a little bit more, that can overload things like your tummy. We often find that sometimes people have difficulties with breathing as well. They eat too much. So splitting it up into six small meals throughout the day can be a good strategy around that. I’m going to touch on an important point around food fortification a little bit later. Some people find as well having a savoury meal followed by a sweet. So dessert doesn’t just have to be for the end of the day. It can be, you know, you have lunch dessert, you can have breakfast dessert. And that’s just kind of maximizing your appetite throughout the day as well. In terms of chewing and swallowing, again, that takes energy and you’re burning energy as you’re getting it in. So what we want to make sure is every mouthful that you’re getting is as efficient and calorie dense as possible.  

So we find that sometimes making foods a little bit softer… So for example, just making sure meat’s super tender, making sure that you’re using sauces, oils, gravies, and things in periods of fatigue, because that can help with things like, you know, chewing and also swallowing and it going down a little bit easier. Adding extra sauces and gravies as well can mean extra calories. Like you touched on Sanah as well, there are also lots of options out there for oral nutrition supplements which we find if you kind of try these first side strategies, it is really good to go to your doctor and discuss. So those are high energy milkshakes that can be had between your meals and they supplement your intake and they just, again, are really beneficial in periods of low appetite as well as fatigue, just because, you know, they’re liquids, easy to swallow and yeah, often don’t take a huge amount of appetite to drink. The other thing that can be quite good is you’re opting for full fat options and things like full fat yoghurts, full fat milks and things like that. Which kind of brings me on to my next point. 

So, like I said, having as much energy and as small a package as possible is super important. So you don’t necessarily need to change and flip the entire meals that you’re eating, but you just need to  make sure that every mouthful is as calorie dense as possible.  I’ve got a couple of pictures on the slide here of things like olive oils, butters, margarines, avocados, nut butters, sauces, full fat yoghurts and things like that. So try to add a source of energy to each meal and each snack. So, for example, if you’re having something like a cracker with cheese, making sure it’s full fat cheese, maybe adding a layer of butter under it, just making sure that each mouthful you’re kind of getting as much energy as possible. And, yeah, nutritious liquids I have touched on as well, but having sources of fluid that have got energy in them, again, can be good in periods of fatigue and low appetite. Drinking them away from your meals is super important though, or drinking them just after as like a meal top up, just because we can find that sometimes nutritious fluids can fill up us up super quickly and then kind of not leave room for lots of other nutrients for us to get in our diet as well. 

So another thing that we get a lot of questions on is protein. So protein is super important for growth and repair, and we need protein in order to help sustain the muscle mass that we have got. Aiming to have a sauce at each meal and snack is super important as well. Or if you’re able to do that, yes, fantastic. So typically when you think of protein, you think of kind of meat, fish and poultry. But I do just also want to highlight that there are lots of other vegetarian options out there as well. And I know Graeme’s going to touch on that as well. But things such as tofus, tofu, lentils, beans, chickpeas, so, such as hummus, so that again can be used as a spread or as a sauce, dressing, things like that, cottage cheese, yoghurts, nuts, seeds. Soya products are also really high in protein as well. So lots of milks out there these days. So soy milks have got a good amount of protein to them as well. And yeah, eggs as well are a great source of vegetarian protein. 

So on the flip side, what about if I want to lose weight? So in this instance, the energy burn needs to be greater than the calorie intake. Now this can be a little bit difficult if your exercise and daily activity is a little bit limited in terms of things like mobility. But what we have found is that you can actually achieve a good calorie deficit just by changing things such as your meals, snacks and drinks as well. So a lot of weight loss can actually be attributed to changing your calorie intake. And now again, one thing that a lot of people find is that changing one thing at a time can be really useful. So there’s obviously a whole lot of information out there on how to lose weight and how to, or how to maintain your weight. So just focusing on one or two things at a time and kind of making sure that you’re making those changes in a good sustainable way is a good way to kind of slowly, you know, lose your weight without it kind of feeling overwhelming or unrealistic. So firstly, I just want to touch on things such as changing the proportion of your plate. So again, you don’t necessarily need to make massive changes as to what you’re currently eating. But looking at proportions is super important. So here I’ve put the plate model on this slide.  

It’s something a lot of people are familiar with. But making sure that half your plate is non starchy vegetables. So that’s things such as salads or aubergines, zucchinis, carrots, tomatoes. A quarter of your plate is then carbohydrates. So that’s things like your potatoes, your sweet potatoes, rice, grains, breads. And then the other quarter of your plate is protein. If you are hungry and going for seconds, try to aim to prioritize the non starchy vegetables followed by a lean protein. So you want to be aiming for about five plus fruits and vegetables a day. The second is aiming for balanced regular meals and snacks to prevent overeating. So this is something that we often find, people try to just cut down their meals significantly, then they get over hungry and then they kind of want to obviously eat the high energy foods out there. But aiming for a good balance, again, referring to this plate model of fruits and vegetables, carbohydrates and lean protein.  

Some things to consider when constructing your snacks of things such as fiber, so looking at the quality of your carbohydrates. So whole grain or seeded varieties have got some more fibre in that that can help with things such as constipation as well as satiety. So they can actually help you feel fuller for longer. Other important nutrients are things such as calciums, and I’ll touch on that a little bit later. So maybe looking for something like low fat yoghurt or low fat cheese and adding that as a snack. Iron and vitamin C as well. So that’s where things such as your meat products and your meat alternatives can come in, and opting to have them with a source of vitamin C, so oranges or spinach, tomatoes, things like that, just to help maximize the absorption. Another tip that could be quite good is aiming to drink low calorie fluids, aiming to drink about six to eight glasses a day. So water is the first choice, followed by things such as low fat milk. Other things that can be quite good are fruit smoothies made with low fat, yeah, milk or water or yoghurts, low fat yoghurts, and avoiding high calorie fluids, so any fluid that has got kind of added energy to it. So things such as fizzy drinks, we know have got a lot of added sugar to them, don’t really provide us with much in the way of nutrients. So they’re quite a good, easy change. 

Fruit juice as well. And yeah, if you do kind of feel like you want to make the transition slower, looking for low sugar or no sugar alternatives to that. One other thing that people find really useful is reducing the amount of fat. So fat per gram has actually got the highest number of calories. So this is quite a good way that we can, you know, see quite a bit of change with, you know, small kind of changes. So overall, reducing the amount of fat that you’re using. So removing things like visible fat from meat, opting for your low fat options, so skimmed or trim milk. Cooking with less oil, or looking to cook with methods that don’t need as much oil, so things such as boiling, stir frying rather than things like deep frying or, you know, kind of lathering a whole lot of oil to roast. Roasting can be good. But again, just using less oil. And kind of on the topic of heart health, you want to be making sure that you’re reducing your saturated fat. So that can come from things such as cakes, biscuits, coconut oils and things like that. So you want to aim for things like polyunsaturated and monounsaturated fats. So those come from things like your plant based oils, so put a little picture of avocado here just because that… You know, swapping to those kind of more heart healthy oils can also be really good as well.  

Well now in terms of exercise and things like that, I’m unfortunately not an exercise expert for people with SMA, but I’m sure that you guys have got some great physios and support out there as well. But I’ve just popped a couple of ideas for some exercises that you might be able to do while sitting that can also help with that calorie burn side. So one thing that I just wanted to touch on briefly as well is, What about bone health? So we find that children with SMA have got a high prevalence of low bone mineral density. So on this graph here you can see that as the bone grows, you know, peak muscle mass, you know, we’re kind of aiming to achieve that, that kind of plateaus around about the 20 to 30 mark and then it plateaus off. In terms of, yeah, for children with SMA, obviously the lack of mobility and not being able to kind of walk on your bones to help kind of make that structure can mean that we do find a lot of fractures as well as decreased mineral bone density as a child ages.  

So what we really want to focus on is taking in enough of the bone nutrients essentially, so things such as calcium, vitamin D and protein. So in terms of calcium, so I’ve just popped a couple of examples on here and like I said, these can be really useful to add into things such as snacks. So you can see here there’s the kind of recommendations from the British Dietetic Association of how much calcium you should be aiming per day, as well as kind of what foods can, you know, can give you that, those that calcium. So it doesn’t just have to be from milk and milk products. So as you can see here, things such as tofu, calcium fortified cereals and white bread can be quite good as well. So we live in a day and age where luckily manufacturers are kind of aware of where, you know, some nutritional, nutritional problems do sit. And sometimes they do add additional nutrients to our products. So looking on the back of a nutrition label and seeing whether or not calcium’s added to it is a good thing to do as well.  

And also just lastly on vitamin D, so vitamin D is critical for calcium and phosphorus absorption which is important for our bone health. So we know that high risk groups of people that… Yeah, so infants, children, adolescents who spend little time playing outside, pregnant breastfeeding people, those over 65 years of age, people with darker skin tones and people living in the UK or other northern climates, especially at this time of year haven’t seen a whole lot of sun for the last couple of weeks. So to get adequate amounts, so yes, sunlight is one of the ways that we can do that. But when you are limited, you know, supplementation is a good way to go as well. So sometimes through the autumn, winter, that can be good just to routinely get into as well as, yeah, you can get a small amount from your foods as well. And I’ve popped a couple of pictures here so things like oily fish, cod liver oil, egg yolk, meat and milk and fortified cereals and things like that as well. But yes, I will hand back over to you Sanah to introduce Graeme you can help with the information on diets.  

Sanah Rauf:  Thank you so much, Isla. That was really interesting. And a few things really stood out to me. So with the risdiplam and being more hungry that I can definitely testify to that I was so hungry, like 10 times more hungry on risdiplam.  

Isla Foote: Yeah, it’s interesting, isn’t it?  

Sanah Rauf:  And I had a lot of energy to do more things as well, so that’s probably why. But yeah, and also six more meals with a dessert afterwards was a really good idea because it’s kind of like maybe a bit tiring to eat lots of meals, but if there’s a little dessert with every small meal, it’s maybe a bit more exciting. And yeah, I think was great points for people that want to gain weight and also people that want to maintain weight. So yeah, thank you so much. And also I’m very passionate about following a plant based diet but I do find this difficult. So we’re going to go over to Graeme now, and what are your recommendations to someone living with SMA following any kind of specialist diet like I do?  

Graeme O’Connor: I mean, thank you so much, Sanah. I’m just gonna go for it. So I’m going to focus on a few popular diets that are around. Some of them are fad diets but some of them are quite popular and the scientific evidence for how effective they are is good. Whether they are helpful in people with SMA, we’re going to go through some of those discussions today. So most of you have probably heard about heard of a plant based diet and essentially a plant based diet is very similar to a vegan diet in that most of the food comes from your fruits and vegetables, and the starchy carbohydrates, pulses and lentils. What’s different with a plant based diet is it’s a little bit more flexible in that you can also have your fish and meat and dairy products within this diet, whereas a vegan diet is a much more strict diet but they wouldn’t have animal products or have any animal clothing or like leather shoes. Whereas the plant based is a little bit more flexible. Another key component of the plant based diet is avoidance of processed foods. So it’s very wholesome foods. Often you’ll find that with vegan foods that they can be quite processed and have high salt content and some fats within them.  

So a plant based based diet is much more wholesome, as minimal foods as possible. Interestingly for a vegan now, it is a protected title. So the Employment Tribunal has officially recognized the veganism as a protected belief under Section 10 of the Equality Act. So anybody who comes into a hospital or into a public setting, we must cater for that vegan diet. That’s quite an interesting outcome for this vegan diet. Now, both with the vegan diet and plant based diet, a major part of it is the type of fiber that you’re having and you have… There’s two main types of fiber, soluble fiber and insoluble fiber. Your soluble fiber contains a lot of your vitamins and minerals, but also contain something called prebiotics, which I’m going to come on to how these can impact your gut microbiome and how important that might be. Whereas your insoluble fiber’s what we call roughage and much of this fibre is difficult to break down and mix it down and makes it food to the large bowel, where it can also have a benefit with some of the bacteria that’s in the gut. It can also help with reducing your cholesterol levels. So particularly porridge oats. The way that the porridge oats absorbs bile acid within the gut means that bile acid is removed from the body, and then to make more bile acid we have to use cholesterol, so that it makes your cholesterol… Can help with your cholesterol levels and your bad types of cholesterol, which is your LDL cholesterol.  

I’m going to get into a bit more detail about the fibre moment in terms of how it affects the gut. But there’s a consensus statement by SMA who state that standard of care recommendations for SMA patients suggest the use of a high fiber diet and probiotics, which I’m going to come onto, to aid the management of constipation and associated GI dysmotility symptoms. As Isla mentioned before, one of the problems with SMA is that it does affect our reduction in our skeletal muscle or fat and fat free mass. It also impacts our smooth muscle. And one of our largest smooth muscles in the body is the gut. And if this smooth muscle reduces, it can stop our peristalsis working. And peristalsis is a mechanism where it moves food throughout the body.  

This whole contraction relaxation process can cause constipation. And constipation is one of the main issues that we see with children with SMA and also older people with SMA, because of this smooth muscle deterioration. So, ways that we can try to maximize our… Try to mitigate our constipation is to maximize our fibre intake. And it’s actually quite hard to meet these fibre intakes. So for adults we’re looking at 30 grams a day. And most people in the UK are probably not even meeting half of this. The last research that came out from the national diet survey was about 10 grams of fibre a day. So you can see here, if you match up the amount of fibre within the foods, how much you actually need to get anywhere near this 30 grams. So I mentioned oats before. So a portion of oats you’ve got about 10 grams of fiber, and then you’ve got your fruits and vegetables here, about 2 to 3 grams. So it’s quite difficult to get to this level. But just to be mindful, we can get to about 30 grams, it can have a significant impact on any constipation that might be an issue.  

‘ve got here as well, like nuts and, yeah, mixed nuts. Now, as great as nuts are in terms of fiber, they are very high in calories. So this is great if you are trying to gain weight, it’s got lots of essential fats within them, within them zinc and selenium. But if you’re trying to lose lose weight, then nuts might not be such a healthy, such a useful snack if you’re trying to reduce weight but to get your fibre intake. So just be mindful of that. So I mentioned before about prebiotics. So prebiotics are within certain types of fibre and these feed the good bacteria within our gut. So you’ve got foods like banana, artichokes, garlic, and some watermelon, apples. These are what we call prebiotics and they feed the good bacteria within our gut. But we also, if we can also get to probiotics, which is usually bacteria like Lactobacillus and Bifidobacter. And these are naturally formed within some of these dairy products, so you’ve got your kefir. Tucked into the high fat milks and yoghurts will have live bacteria within them that also help to populate that gut microbiome. And if you have both these together, then they’re called symbiotics.  

I’m going to come into… I’m going to discuss the pathway of fibre microbiomes in a moment. If you are interested in probiotics, the only prescribable source at the moment is VSL#3 and your GP can prescribe these for you, especially if you’re on regular antibiotics. So this is just a nice flow diagram to show how important fibre is and particularly prebiotics. So these feed the good bacteria within the gut, and particularly, they feed the Lactobacillus and the Bifidobacterium. Now it’s what these micro… It’s the actual end product of the metabolism of these microbiomes that we’re really interested in. And these are now called postbiotics, or we call them short chain fatty acids. And these are your butyrates, acetates and propionate. And these are fuels for your gut enterocyte. So these are the cells within your gut, they help with the overall function of how your gut work. And they also work with an anti inflammatory effect not just within the gut but also at a systemic level. Now, there’s lots of research out there that shows how important your gut microbiome is now in every organ of your body. And there’s some very, what we call meta analysis, much larger studies that have shown the gut and the brain axes connection now, and they’ve isolated a molecule called tryptophan, which is an actually amino acid that is a precursor to serotonin.  

And serotonin is our happy hormone or our happy… Yeah, I suppose not a hormone. It’s an enzyme within the body that we can now link to the gut heart brain axis, which is quite interesting. The problem with people with SMA, especially in the UK, they will go on to prophylactic antibiotics, preventative antibiotics, to try to reduce their risk of any respiratory infections, particularly over this time of year, over the winter months. And the problem with the antibiotics is that, what’s great, they kill the bad bacteria within the body, but they also kill all the good bacteria within the gut and also on your skin. So it’s really important that you have this regular supply of really high fiber foods which has your prebiotics or if you can get some probiotics as well. So if your GP has prescribed you prophylactic antibiotics then you can request that you go on to a probiotic, which is the VSL#3m to help recolonize that gut to help with the constipation.  

So moving on to looking at altered fat and glucose metabolism that we do see in SMA. So we know that we’ve seen a reduction in muscle mass and as the disease progresses, this can often significantly reduce the skeletal mass and also your smooth muscle and increase your fat mass. And we can see some metabolic abnormalities too. So these are consistent with quite complex and fatty acid oxidation disorders just due to this dysregulation that we see. And this can result in the increased levels of fatty acids. And if we aren’t metabolizing glucose particularly well, then we can also see an increase in ketones, which is another fuel for metabolism but something we don’t really see unless we’re in a starvative state. And it can cause issues with the blood pH, which makes the body quite unhappy if these ketones are formed. And this can all be exacerbated if there is an acute illness. So there’s been lots of debates about a high carbohydrate diet and a low fat diet with people with SMA. Because of the reduction in the muscle mass, the idea is to give the muscle that is there as much carbohydrate as possible, much glucose so the body can function as much as possible. 

Sanah Rauf: Thank you, Graeme. That’s so interesting because I think the prebiotic and probiotics is overlooked a lot but it’s actually really, really important. And I have found that out myself obviously just being ill recently with like chest infections and stuff. I’ve had IV antibiotics and now I’m well with respiratory, but my whole gut is probably not the bestest right now because of like flare ups of other stuff. But yeah, so that was really, really, really important. People living with SMA are no different from others in that they might try to lose or gain weight quickly with the latest diet plan or weight gain idea. For example, I tried to be vegan for two years. It was not great. Do you have any thoughts of this kind of weight management to do with like being full vegan or any other fad diets?  

Graeme O’Connor: Yeah. Fantastic. And it’s good to hear your story about your previous infection, and you know, it might be worth going onto some probiotics just to recolonize that gut. If someone’s been on some antibiotics, a course of antibiotics, then you just need to go onto some probiotics for maybe two or three weeks just to recolonize that gut and then see if that has any improvement. And then leading on from your previous question there, this slide actually just links into some of the issues that we see with some of the diets that are around and why they might be an issue with somebody who has SMA.  

So a very popular type of diet around is intermittent fasting and there’s a number of different types of this. So you can do a 12 hour fast and then you’re allowed to eat for 12 hours. The most popular type of version of this is 16 to 8. So you actually fast for 16 hours a day and then you can only eat for eight hours. Now, the research has shown that this type of diet is particularly good for men and particularly good for men that are overweight. So it improves our blood fats. So looking at reducing cholesterol and a particularly bad, bad cholesterol called LDL cholesterol. It also helps with weight control and weight loss, particularly around the gut area where it can cause quite a few issues for men in terms of cardiovascular risk. And it has also improved blood glucose control. So this is great for people that don’t have SMA. So if we think about a modified intermittent fasting suitable for someone with SMA who’s an adult, I’m going to look at some of the evidence and papers that have come out looking at glucose control.  

So this study was actually looking at people with SMA type 2. It’s children and an adult population. It was only on 20 patients, so quite small. But they were looking to see what happens within the body if they fasted for up to 24 hours or until they had any hypoglycemia. And hypoglycemia is a low sugar level where you can make you feel quite unwell. And what this study found was that all the patients with SMA2 developed moderate or severe ketosis. So these are the ketones that are produced when your glucose levels are low and your body can’t use glucose, so it makes ketones as another energy source. But 60% had symptoms of low blood glucose, which is below that three minimals which can make you feel very unwell. So they concluded that the reason for this difficulty in controlling blood glucose over this short period of time was due to the amount of skeletal muscle that is available with people with SMA, too. So somebody who doesn’t have, say, SMA, they could probably fast for 48 hours without the blood glucose dropping because of the stores within your liver and within your muscles. But we think because of the reduction in muscle mass, that this can be a problem if you do have SMA. And this is particularly an issue if you do have a child that needs surgery, they’re fasting for surgery, or they have a severe illness. 

So these are some of the clinical signs of a low blood glucose, and that’s increased sweating, increase in heart rate, tiredness, lethargy, and it can actually cause seizures if it’s not corrected. This is another study looking at glucose control. This was only in six patients, and they tolerated and monitored fast for up to 20 hours. So some children or some adults were are able to tolerate a longer fast and it is very individualized. And again, they noticed here that fatty acid levels increased, which we would expect to see once we are utilizing all of our glucose level, we start to break down our fat tissue and we get this increase in fatty acids. Interestingly, these children also had high levels of insulin, which we see in people with type 2 diabetes. And even though there’s lots of insulin in them, it’s not working particularly well. So it’s not taking the glucose out of the blood. And the study concluded here that children with SMA type 2 are increased risk of impaired glucose tolerance.  

I’ve just got the last study here just to show this glucose and fat metabolism disorder that we see in adults with spinal muscular atrophy. This one was, again, very small study, because it is such a rare disease, was in 23 adults. And they noted that at least one lipid, which is a type of fat, was abnormal in adults with SMA that were fasting. And they also noticed 90% had a glucose intolerance or sugar issues within their metabolism. So taking all this into account, we can probably say that intermittent fasting is probably not suitable for somebody with SMA. And you all understand how your body works, and you might know how long you can fast for before you start to see some of these symptoms of hyperglycemia. But I think looking at  the evidence, it’s probably better to avoid having long fasting to avoid any of these hypoglycemic episodes.  

Another popular diet that’s around is the ketogenic diet. And again, this has shown to help with weight loss and also with glucose control. It can be much more restrictive than the intermittent fasting, so people tend to go for a low carbohydrate. And Isla mentioned before that if you were looking to go back on that plate model, that the majority of your plate would be from vegetables but if you did want to have quarter of the plate would be from carbohydrates or. Sorry. Yeah, quarter plate would be from carbohydrates. And so it’s important, you know, our body’s preferred energy source is glucose and your brain and your eyes only use glucose as an energy source. And because of the same reasons that we’ve just spoke about with the intermittent fasting, that we probably wouldn’t recommend people with SMA to go onto a low glucose diet because of the risk of the ketones that are produced and that can cause acidosis, but it can cause it quite quickly because of your glucose stores within the muscles. And this is just a chart to illustrate that, that how quickly your glucose can drop and then you get this increase in ketones. And this is when we can start to see the issues with ketosis and a drop in the blood pH, which can make you feel very unwell and can have quite serious effects as well, including seizures.  

So just to summarise on my study, and I think Isla might have some other points to mention when we have a discussion at the end. So the balance of good health is probably the most important part of a healthy balanced diet if you want to gain weight or lose weight by just amending the type of foods that you’re having. Having regular meals, having a diet that’s high in fiber will help with the constipation, your gut microbiome and that overall immune function. So make sure you have that regular, moderate activity as much as you can every day. This will help with glucose and fat metabolism. And try to avoid these prolonged fasting just to reduce any risk of ketosis and low blood glucose level.  

Sanah Rauf: People with SMA, obviously it’s quite difficult for us, for some people, to eat because it’s quite tiring. And a good way to make it easier is obviously pureeing and like mashing food. But is there any ways that you could recommend we could make that a bit more creative?  

Isla Foote: Often, yeah, we do find that people get that… Puree their food or yeah need it kind of mashed up in things. Sometimes even doing things such as like separating it on the plate, making sure that you’re not just kind of blending it all together, keeping it in its separate components on your plate can make it, one, visually more appealing, as well as kind of, you know, it can be like that plate model again and kind of mimic what your family is eating and things like that. There are also a lot of food moulds and things like that out there. Some people find moulding their foods into different shapes and things can also make them a lot more interesting, as well as kind of increase their desire to want to eat them. We often find that with children especially. And also you’re being creative with things like your flavorings, your spices. That’s, again, we’re adding things, if you’re trying to gain weight, things such as, you know, using cream based sauce, oil based sauce. And yeah, creams, butters and things like that can also be really beneficial. Making sure that you’re using things with bright colors as well can sometimes be really good as well. Because yeah, sometimes if you’re just kind of blending it all up together, it can sometimes come into not such a nice color and not make it that visually appealing. But yeah, Graeme, do you have anything else? 

Graeme O’Connor: Nothing, I think…  

Sanah Rauf: Yeah, I wouldn’t say it… Yeah, I think that was… I think that is a really, really great point and can make it feel like the person with SMA is involved with their family instead of it looking a bit not aesthetically  pleasing. So I think that was a really, really…  

Graeme O’Connor: Those food moulds is so good now when you… You know, with the broccoli ones for example, where it was like a broccoli but just very soft and you still got all the micronutrients and the fibre from the broccoli that’s being blended up. So have that gut microbiome. 

Isla Foote:  Yes. And just a note on blending it up as well and kind of pureeing food. Again, if you’re trying to gain weight, yeah, that’s where those really high calorie kind of opting. If you’re blending, don’t use things such as water or a low calorie stock and things like that because sometimes that can actually make you feel fuller quicker. So yeah, utilize your energy dense foods and liquids especially in that time. If you’ve got like a flavourless like oral nutrition supplements as well, sometimes that can be good to whack in there as well. Just like a little bit just to blend it up.  

Graeme O’Connor: So I hope we’ve answered most of your questions today.  

Sanah Rauf: Yeah, that was so fantastic. I feel like there’s so much useful information. Impactful. Everyone, thank you for joining us today and I know I have learned a lot, and I’m positive that it will be useful for so many people watching. Do you guys have any final thoughts before we say goodbye?  

Graeme O’Connor: Thank you so much for the invitation to work with SMA UK and we look forward to working with you in the future. Thank you so much Sanah.  

Isla Foote: Thank you, Sanah.