Letizia - McArdle Disease

Letizia was born a healthy little girl in Barcelona Spain on June 23, 2004 . She loved to play and run and swim and do all of the other things typical 9 year olds like to do. She was the picture of health. Raised on a Mediterranean diet by her Italian family she never drank pop and had only ever visited a McDonalds once in her life. 


In October of 2013 she got a fever. A week of antibiotics did nothing to bring it down and her mother, Barbara, began to seriously worry. A trip to the emergency room was going to be needed. There Letizia underwent her first ever blood test. And the results were frightening. “It was like a thunderstorm in our lives” recalls Barbara. “They couldn’t understand from the blood test why she had a massive muscle breakdown in the blood. It was like a Duchenne Muscular Dystrophy  range of muscular breakdown”. Letizia spent many months in hospital while physicians looked for a cause. “They told us that she was not supposed to move because every time she did, her muscles got damaged and more damaged, and it got worse.”  After 4 months of agonizing wait Barbara and her husband took Letizia to the Mayo Clinic in Minnesota to get a diagnosis. A muscle biopsy was done and they got the news that it was McArdle’s disease.  


McArdle disease is a rare disease of muscle metabolism caused by a deficiency in the enzyme that prevents stored muscle glycogen from being converted to glucose. This leads to muscle fatigue and cramping within just a few minutes of exercise and can lead to significant muscle breakdown and rhabdomyolysis and possible kidney failure. "We didn’t know anything about this” remembered Barbara. “We had never heard of this disease in our lives”. That was not surprising  for me to hear as McArdle is rare, striking only 1 in 100 000 people. 


The Mayo Clinic proved to be “great for the diagnoses but terrible for the treatment”.  Letizia’s parents sought advice from the authorities who had helped them diagnose their daughter and that advice was to put her on a high-carb diet with sugary drinks.  McArdle’s disease is the inability to transform the stored glycogen into glucose so the advice they received was to have glucose in her body all the time so she could use it. I noted that it was ironic how Barbara had kept her daughter away from soft drinks and now the prescription was, quite literally, soft drinks. Back in Italy Barbara had to go to the store for soft drinks and stock them in her house for the first time in her life. She found it hard but she did as she had been instructed.   


Barbara recalled, “ In the Mayo Clinic they told me that Letizia must eat sugar all the time. Oh and that I should not let Letizia’s weight go up!  For 7 months Letizia stayed on what I called this high-sugar craziness and gained 7 kilos!  She was going to be obese! In these 7 months, not only did she gain weight, but she lost everything she could do. She started losing muscle strength by not moving during the 4 months leading up to the diagnosis. In these following 7 months, she stopped being able to walk, she was in a wheelchair, she couldn’t chew her food, so I had to prepare baby food for her.  All the other kids they were writing and she was in the wheelchair, unable to write. She even had a problem holding her head when we were going by car.  It was a complete nightmare. Within 11 months, and she had become 100% disabled. I had to wash her, to dress her, to go with her to the toilet, help her with everything. The worst of this was the pain. Because the muscles couldn’t use sugar for moving they were using the proteins that they are made of. It’s kind of cannibalism and very very  very painful. When you have a muscle cramp, you have pain, but you cannot imagine the pain that they have when the muscles break down, and they need 3, 4 days to repair, and during this time  they cannot move that part of the body. The less she was moving and the more carbs and sugar she was eating, the worse she got. She was lethargic, and waking up only for pain, and on pain medications. She was hospitalized at least 1 week per month.”   I can hear the tears behind Barbara’s voice as she says “I even don’t want to remember that period because it was the worst of our lives.” My eyes were full too. Barbara told me that Letizia would cry out,  “Mama, help me. Help me”. But she could do nothing. 


Nothing that is except to learn. Barbara read everything she could find on this mystery disease which was stealing her daughter.  There was not much. One book which she read over and over. This book was not given to her by any physician but was discovered on the Internet on a website run by Andy Williams. Andy Williams also suffers from McArdle and he has provided support to many who are newly diagnosed. (You can read his story here soon.) 


When Barbara read more and began to realize that as humans we have an alternative fuel to glucose for all of our functioning it all began to make sense. This fuel of course was ketones. But she was mad too. “I thought, ‘that’s crazy’.  When I read that this diet was discovered, invented, created at the Mayo Clinic, I couldn’t believe they did not tell me about it right away." Barbara went on to tell me that the sugary and carb diet that had been suggested for Letizia is not a protocol for McArdle’s disease. “It’s an experiment that they did at the beginning of 2008 for 3 days on 7 people with McArdle’s disease, and they compared protein diet with a high carb diet, and apparently, the patients did a little better on the carb diet, and that’s why they suggested to us that we gave it to her. It’s crazy because they found just a little improvement compared to protein, and they made her obese with diabetes, with so many problems for just a little improvement. It is crazy to think it's ok to improve one disease a little bit by creating a gigantic problem with everything else in your body.” 


On the 21st of September 2014 Barbara started Letizia on a ketogenic diet. It’s funny how when something so life changing comes a long you remember the implementation date. I do, I started mine on Oct 23 2014. Barbara reminded me that Andy Williams started around 2014 as well. I guess we were all discovering Keto at the same time. Barbara had spent a lot of time on the Diet Doctor webpage. They were now living in Sweden and he gained popularity there first. “We had an easier life than many other people. I put all the family on Ketogenic diet because I thought it was the easiest thing to help our daughter if everybody were eating low-carb, high-fat. We didn’t have any carbs at home, so she was free to go to the fridge, and eat what she wanted. Italians, they always have dinner, and also usually lunch altogether, so we were all eating the same.”After 3 days on Ketogenic diet, Letizia woke up and said to her mother,    “I don’t have McArdle disease anymore.”   


At this point in our interview I couldn’t hold back the tears anymore as I could only imagine after witnessing my child in that kind of pain that I would have done anything to hear those words.  


But of course Letizia did still have McArdle. She had undergone a metabolic change. And a rapid one at that. My seizure freedom had come after two weeks of adaptation, Letizia found relief in only three days. Barbara explained that “people with McArdle enter ketosis very easily. The median number of days to enter ketosis for a McArdle patient is 2 days. They don’t need 1, 2 weeks to enter ketosis because we have to get rid of all the glycogen before, but they don’t because they don’t have access to that.” Letizia told her mother “I want to walk to school”. And Barbara replied “No, you cannot,” she had been pushing her daughter in a wheelchair every day and the 1.2 kms seemed like a very long first walk. “I told her, “I’ll come with you. If you have problems, we will stop a taxi on the street”. She had to stop twice and walked very slowly but they did not have to hail a taxi.  Barbara was in shock. The teacher was in shock. “When I told her [the teacher]about the diet, she went to talk to the chef of the school for preparing Letizia a special Ketogenic lunch even if we didn’t have the doctor 100% on board yet.” Barbara had put her on a Ketogenic diet without telling the doctors. “I didn’t understand that was something so powerful”. Barbara was talking about the politics. “I just hoped that as a parent, I was allowed to give my daughter the food that I liked, but it’s not like that.”  Barbara was about to discover just how hard it can be making a choice that involves misunderstanding and politics.  “I called the doctor, telling him, ‘It’s kind of a miracle. She’s so much better’. I told him what I did, (the dietary change) and the doctor called me from the hospital, and he was very concerned. He said, ‘There are many other kids on Ketogenic diet in Sweden but they are hospitalized while they put them on a Ketogenic diet. They must do blood tests before. They must be hospitalized’.” And then they asked Barbara for all of the papers from the Mayo Clinic. Everything from there had specified a high carb diet - exactly the opposite of what Barbara was doing. 


For her sins Barbara had to endure a rigorous 3 months of evaluation. Letizia was followed by a doctor, by a psychologist, by a physiotherapist, by a neurologist, and a nutritionist. Barbara was interviewed and her daughter was interviewed separately, it was a very stressful time. “After 3 months, they gave us approval, but we had to take the full responsibility of the choice. They told us, ‘We can help you on this diet, but because it is unconventional treatment you and your husband must assume full responsibility.’ I was a little shocked and asked Barbara “Were they not completely mind-blown by her improvement though? Was it not incredibly obvious to these physicians who presumably understand physiology and metabolism?” She said yes they were happy, and surprised, but cautious. “They wrote me a paper for the emergency room all over the world that says, ‘Letizia has McArdle’s disease. She’s on a Ketogenic diet because she has an alternative source of energy that doesn’t rely on glycogen’. Because we travel quite a lot, even if I go to Italy, or somewhere else, I can show the doctors there that they cannot give her any medicine or treatment with sugar inside.” Barbara talked with me about the fact that even though they understood why it works, doctors are very scared nowadays to think out of the box. “They just check the disease. They just want to find the name of the disease, and the protocol that they must apply to that disease. They don’t want any responsibility if something goes wrong.” But the blood work and Letizia’s recovery could not be ignored. Her labs got better and she had her life back. Her childhood back.  “In Sweden, you cannot buy a wheelchair, it’s for free. The state gives you a wheelchair when you need one. I wanted to give back Letizia’s wheelchair but hey wouldn’t accept it because they say that there is no cure for Letizia’s disease so they cannot accept the wheelchair back. She’s not supposed to get better. But she did." I suggested that she put it in the front yard with a big planter of flowers in it. Instead they moved to an apartment which was closer to Letizia’s school and they left the wheelchair behind.  


I asked Barbara to tell me more about what Letizia’s actual diet looks like today. “We are learning the new Atkins. That is not that strict because we don’t have portion sizes. The important thing is that she is always in a state of Ketosis. We don’t have to measure all the macros. As Italians we discovered that if you take out the bread and replace pasta with zoodles then Italian cooking is very ketogenic, we did not have to change much. During the first year, I had to write in a 3-days diary of food with everything to take to the nutritionist because they were following her so closely. Every 3 months, I was writing a 3-days diary, and the nutritionist she was measuring the macros. I was supposed to do 70% fat, 20 proteins, 10 grams of carbs and sugar, but when she checked all the diary, I was always around 5% of carbs because I’m so scared that I prefer to play safe, and also, because I give her a little bit of more protein, usually I’m 25% protein because she must repair her damaged muscle. That’s my thing because I did everything by myself. There is not a study on this diet for McArdle’s. I just try. I write the diary, how she feels. I use some supplements. I sometimes change them, depends how she feels. Omega 3, Vitamin D, Magnesium. I saw an improvement with the Vitamin B6. 80% of Vitamin B6 is stored in the body, together with the enzyme that Letizia is missing.” 


I am so impressed with how much Barbara has learned and how her learning has helped her daughters quality of life and has the potential to help so many other people, especially children!    Barbara tells me that a big part of the disease is the psychological toll. Panic attacks, depression “It’s not just the muscular disease”.   I asked Barbara if her daughter was now at a point where she could recognize when she’s had too many carbs or she’s in a lower range of ketosis. Barbara confirms my assumption. Barbara talked about how hard this path has been for her. “ It’s one thing to experiment on your self but it’s much harder when it’s your child. Even when the outcomes are so good. The realization that you are in uncharted territory is always there. I’m not happy about doing that. It’s kind of scary. I am always trying things that are not going to potentially damage my daughter, but it’s an everyday job to adjust.” Barbara has changed the cleaning products to the cooking pans (no more Teflon coatings) in an effort to remove as many obstacles to wellness as she can for her daughter. But the he Ketogenic diet has been the big change. “We hope that she can have a normal life now. I measure the steps she does every day. Last week, she did an average of 10 000 steps per day. For a girl that was in a wheelchair, she couldn’t walk from the sofa to the bathroom. I had to carry her. I don’t know, we are so grateful to this diet, the people that invented it, to the keto community for helping us, you for sharing your knowledge.” I felt humbled. I could only hope that sharing Letizia’s story could bring on more research and prevent further suffering. 


I was curious as to whether Barbara had ever contacted the doctors who originally diagnosed her daughter at the Mayo Clinic? “Yes. My husband went there and he talked to the doctor, and she didn’t care at all. She just told him, ‘I’m glad she feels better’. I’m just worried that if another kid goes there, and they made a diagnosis, they will tell the other kid to go on high-sugar and high-carb diet.” Barbara feels it’s important that parents know there is another option. “I think we should have the choice”.  I agreed with her. I think it’s unethical not to give families an option. But Barbara gives a lot of credit to her daughter’s team in Sweden who have listened to her and supported her. The team who follows Letizia is the team that monitors all kids on a ketogenic diet, all of the other children are there for neurological or genetic issues such as Glut 1 and epilepsy. They never know how to answer Barbara’s questions around McArdle, she relies on others on the internet for that. I asked Barbara to tell me about the impact of implementing the diet on other aspects of life. “At school, out of 30 kids in her class, 10 are on special diet. Life now is like that. We don’t see that as very special because there are kids that cannot eat nuts, there are kids with celiac disease. She remembers how she was feeling before. If she has any doubt about food, she doesn’t eat it, just in case. I think having all the family eating a ketogenic diet makes everything so much easier. That’s easier also because we all feel better.”  


I asked her what changes she had noticed on their health as they ate to support their daughter. “I was pre-diabetic before the diet. I go to the gym five days a week and one day the diabetic association came to check people at the gym. They told me they had to recheck me because I was too high, not diabetic, but too high. On the following day, I was too high too, so they told me that I was pre-diabetic. I asked them what I was supposed to do to prevent it. They answered me, ‘Sport’”. I laughed out loud at this being that she was already in the gym 5 days a week. I know it will not come as a surprise to anyone reading this that Barbara’s blood sugars are now perfect every day and she is prediabetic no more. Barbara does not test Letizia’s ketones every day. A person living with McArdle is a human ketone monitor. If they eat carbs, the next day they have major mobility issues. They learn to be very finely attuned to their bodies. That said, on occasion Barbara did test blood ketones on Letizia. Usually when she is introducing a new food to see if there is a significant drop. Her daughter was having trouble making it through the night without pain when she was sleeping for 10 hrs. When she woke up at 3 and had a little piece of cheese she felt much better. This was how Barbara discovered that fasting did not work well for her daughter although other McArdle patients have reported great success with this (see Any Williams’ story). This type of biohacking has helped her understand that the food is important but so is the timing. 


It is no wonder that with a Mediterranean background Letizia’s favourite meal is zoodles carbonara. In the beginning Barbara was much more strict with the vegetables. “Now that we are very comfortable with the diet, in September it will be 3 years, we just enjoy those zoodles once in a while, and she loves it. I cook so much. I prepare her candies, everything normal people have. Also, her friends see the pictures on the Instagram, and they want to come here to eat. They always complain about their own food, and they say that she’s lucky because she has everything home-prepared”. I understand why, @LCHF_italian makes me wish I could eat there too. 


I asked Barbara if she could think of one person who really helped her explore this path for her daughter, who would that be? “I think it has been Andy Williams, he has helped us a lot. Also, a Canadian, her name is Stacey. [Dr. S. Reason - see her story here soon] she has the disease. She’s very active by promoting this lifestyle.” 


Barbara confided that one of the hardest aspects of her daughters excellent management of the disease is that every time she reads of other children suffering and in pain or worse, hospitalized, she knows that with different advice those children may not have to suffer.  “I’m so sorry, every time I read about them because I know how it is.” Barbara is happy to share her daughter’s story. “I’m doing this also because Letizia is actually the only kid with McArdle disease on a Ketogenic diet. I told everybody, of course, but they thought probably that I was a crazy lady. They went to their doctor’s to ask them, and they say, “No, no, no. Don’t do that. It’s very unhealthy”.  In an effort to spread knowledge Barbara collaborated with Dr. Eric Westman and Dr. Stacey Reason to do a case study on Letizia and two other adult patients which you can view at ketoalldayeveryday.com in the poster hall section. 


I tell Barbara that Letizia is a lucky girl to have Wonder Woman as her mother. I can only imagine the suffering that they both went through and I’m so happy to hear that neither of them are suffering in that way anymore. After all, Letizia is just a child and all children deserve happiness-which incidentally is what her name means in Italian. I can only hope that the efforts that people like Barbara have put in to understanding and effectively managing this rare and life altering disease will pave the way for many more success stories in the near future.   


Show your Keto community spirit and help us fund raise for a McArdle disease research project. This will be the first of its kind and entirely funded by the community. Please visit  the Keto Community Research Page to learn more and donate today!

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