We always turn to qualified dieticians and nutritionalists for advice and they are a very important source of safe and published information. But we know that experience within the community can sometimes question the scientific understanding and we need to work with the professionals to develop dietary guidelines that work across the wide spectrum of Pompe community.
The best advice is often to eat a well-balanced diet, perhaps biased towards protein to support muscle repair. Diets should also try to maintain a healthy weight as losing weight through exercise is not easy.
Some individuals have experienced other dietary regimens, either for cultural or experimental reasons, or completely by accident. When those experiences show clear benefit; we would like to consult with professionals and develop research proposals to test their suitability for all Facebook group for Diet and Nutrition To join the Facebook group, you must first join the Pompe Support Network
Low Carbohydrate High Protein Diet
The LCHP diet was originally introduced for Pompe, before the advent of ERT, to help overweight individuals shed a few pounds to take the strain off their weakened muscles. However, metabolic analysis suggested that the added protein was surprisingly helpful in Pompe disease; and the amino acid L-Alanine particularly so. Dr Alfred Slonim developed these ideas further and devised a Nutrition and Exercise Therapy (NET) that he claimed great benefits for Pompe. Once ERT became available, however, the emphasis on beneficial diets wained, but its good to see that the discussions have had a resurgence in recent years, with emphasis on achieving ideal body mass through a well-balanced diet.
We hear some remarkable stories about Pompe individuals and families experimenting with a Ketogenic Diet (KD). Indeed the Pompe Warrior Foundation is promoting it through their website. But Dietitians and nutritionalists are naturally very cautious about people starting such diets without suitable monitoring and support.
It is worth reading this Harvard Health introduction to the keto diet, and heeding the warnings therein.
A lady who thought she had the symptoms of McArdle disease tried the Keto diet. The results amazed her; it alleviated nearly all of her symptoms of headaches, muscle pain, GI issues, and fatigue. Eventually she received the correct diagnosis through genetic testing - Pompe disease! She has since started ERT which is no doubt protecting her from future disease progression, but more detailed research would be needed to see how the two therapies complement one-another, and whether the KD has any attendant long-term health risks.
Interview with Johanna
Having heard reports about Johanna's amazing experience, we wanted to hear more from her about how the ketogenic diet had helped, and whether it is something we should investigate further with nutritionalists specialising in Pompe disease. Johanna gave us the good and the bad side of living with a keto diet (KD), and below she answers some of our questions. The images above illustrate both sides of living with Pompe disease, even under a ketogenic diet.
Whilst we would not advocate that anyone with Pompe disease should make drastic changes to their diet without first consulting their specialists medical team; we would ask you to share your experiences, understanding or puzzlement with the Pompe Support Network, either through the facebook discussion group or through private email.
Allan Muir: Johanna, we talked briefly in 2017 about your experiences with a Ketogenic diet and Pompe, at the time you started the diet you thought that you may have had McArdle disease, but after the correct diagnosis, the diet did seem to be alleviating your Pompe symptoms. Given that two years have now passed, and you have been receiving ERT, I would be very interested to hear your experiences, whether you maintained the diet, and whether you think it may have enhanced your response to Myozyme. Johanna: I don't want to sound too biased, but certainly, Keto-diet improved most of the symptoms. Maybe I could say something negative about happiness since I do feel aggressive sometimes. But since I know it could be because of the diet, I have my tricks to manage aggressiveness. Also, it has a social cost, because you stop sharing experiences like eating an ice-cream with your kid, but as soon as you overcome the desire for sugar, it's not a sacrifice. For all the rest, it has been a big blessing.
Allan Muir: Did you suffer from fatigue before starting the diet? Johanna:Yes, always, but I don't need a midday nap anymore.
Allan Muir: Has the diet resolved any of the pain you complained of? Johanna: I now experience a little bit of pain after the ERT infusion, something ridiculously small. Before keto, I was having 400 mg ibuprofen + 500 mg paracetamol every 4 hours. This dose was greatly reduced, I need paracetamol here and there.
Allan Muir: Do you feel that the KD has helped at all with muscle strength and endurance? Johanna: When I was around 28 years old, I was misdiagnosed with bursitis, a constant pain in my right hip, I also had constant pain in the lower back. At 33, I had a baby, and I started to experience weird, unpredictable pain upon physical activity. By physical activity, I mean walking half an hour. For example, the feeling that my right leg was going to be ripped apart, as it’s detaching from the leg; (in a scale from 1-10 I would give that feeling a 5), or that the muscles of the back are pulling apart (8), or a strong “electrical shock” in the neck (10), and the worse of those was the feeling that somebody grabbed my spine and shake it (20). All this was 99% solved after Keto. I only get predictable pain when I over-exercise. More importantly, I can exercise again! - Slowly and carefully, and with a huge mental effort; but I can.
Allan Muir: Did you notice any improvement in your mental ability? Were you clear thinking or suffering from a foggy brain? Johanna: 100% better. I work at the University of Copenhagen as a researcher, a job that requires certain mental ability. Before Keto, I was going to give up. But now, I'm fit to fight.
Allan Muir: So how did your mental wellbeing change - are you happier? Johanna: It's nice to be without pain, but as I said I became more aggressive. But since I feel much better, I have time to focus on my kid, my husband, and the rest of my family - and not only on my pain - and that gives me the feeling of being happy. Also I feel a lot better about my body, and the fact that I can exercise make me happy.
Allan Muir: You also mentioned having GI problems; have they resolved at all?
Johanna: I was diagnosed with IBS and lactose intolerance, and those problems were also completely solved. I have good digestion now. I have to say that I follow keto-diet with tons of leafy veggies and I take my electrolytes and supplement with discipline. If I don't do it, I pay the price. It's important to be consistent. But I can eat bits of cheese and other lacteous foods now, without a problem.
Allan Muir: Breathing is often a problem for Pompe; how does it affect you? Johanna: When standing, my breathing is completely normal, and lying down 70%. It has been the same for 2 years. My sleeping problems were like 25% resolved – I still have to fight for a good night's sleep but I don't take medicine for sleeping anymore.
Allan Muir: Did you suffer from morning headaches? Johanna: I did, a lot before keto. None after keto.
Allan Muir: So finally, one last question, how has the KD improved your daily living? Johanna: I can do all of these activities slowly and with breaks:
Stand to cook - Rise from a chair - Rise from the floor - Carry shopping bags - Step out of a car
I've copied two pictures for you to share: a happy picture of me and my kid after walking 2 hours to arrive at a beautiful place. I also attach a picture of the last time I fell and broke a bone in my face to make clear that I’m not claiming that ketogenic diet is the cure to Pompe disease, but it could be a tool for some people to manage the daily living.
Allan Muir: Thank you so much for sharing your experience of a ketogenic diet, and for allowing the Pompe Support Network to publish it and your photographs.