Longtime readers will remember Mathias and Zachary, the unfortunate children suffering from Neurodegeneration with Brain Iron Accumulation, a genetic disorder that leads to horrifically painful spasms beginning in early childhood, and death as a teenager. I wrote about their case in Ketogenic Diet for NBIA (Neurodegeneration with Brain Iron Accumulation), February 22, 2011.
The ketogenic version of PHD had remarkable effects for the NBIA kids. Mathias and another boy who tried the diet, Zachary, regained control their limbs, and the spasms and pain went away. Kindy, Mathias’s mom, wrote in 2011:
Both boys have begun smiling and laughing all the time.
Nothing inspires happiness more surely than the cessation of extreme pain!
My speculation is that a ketogenic (or high-fat) diet helps in NBIA by allowing Coenzyme A, the crucial enzyme which is under-generated in NBIA, to be redistributed from organs like the liver and muscle, where it is manufactured in abundance, to the brain where it is most needed. On a ketogenic or high-fat diet, more CoA is created and it is more often bound in water-soluble forms (such as acetyl-CoA, acetoacetyl-CoA, and HMG-CoA) that can cross cell membranes and enter the brain.
Mathias and Zachary continued to do well on our diet for over three years. Kindy recently wrote:
Zach is actually doing really well. He is following your diet still (not into the ketogenic range but otherwise following it more or less precisely) … He is off nearly all of his medicines and is able to do things that he never could in his life. He is not well – but he is not in pain and has no spasms, and is doing school work etc.
An aside: I’ve been hearing recently from a number of people who experienced great benefits in neurological conditions – NBIA, epilepsy, migraines, and others – following the ketogenic version of our diet, and later transitioned to the regular version of PHD with more carbs and less fat, and continued to maintain all the neurological benefits they had first achieved on the ketogenic diet. Perhaps it was not the ketosis that was crucial, but some other aspect of PHD, such as reduction of inflammation or improved nutrition.
Mathias also was doing very well, until he developed pneumonia last summer. Possibly his genetic mutations disturbed immune function; in any case, the pneumonia led to fatal complications. Kindy wrote:
I want to let you know that on June 23, Mathias died of septic shock. He went into the hospital 10 days prior with pneumonia and we were packing to go home on the following Friday when he got a sudden fever. The doctors asked us to stay one more day – his lung x-rays were clear but they were concerned about the fever.
On Saturday, his fever went to 41 degrees Centigrade. On Sunday, it went to 42 degrees. Despite every available antibiotic and all other attempts to save him, Mathias died peacefully with a strong heart (153 beats per minute – and breathing on his own).
He was surrounded (even in Intensive Care) by his whole family, plus his aunt, and two of his long time helpers – plus two of his nurses and two doctors. We thought it would be a few more days and we were all hugging him, and laughing with him and telling him stories. From one second to the next, his heart stopped.
We choose to believe that Mathias decided – down to the last second – what and how he was going to leave his earthly body. He had no cramps, no spasms, no pain. He just let go surrounded by love.
We are privileged and honored to have known such a brave, smiling, incredible person. He did more and affected more people in his 9 years of life than most people do in their entire lives. He was always happy, always smiling – a gift to everyone around him.
Thank you for being part of the forces around his life who helped support him, love him, and provide him with the best life that was possible for him. Thank you from the bottom of our hearts!
Farewell Mathias. May you rejoice in God’s kingdom, where all love and all are lovable, and all tears are wiped away. Requiescat in pace.
via this link:
Sorry for your loss.
Wow. Tears. PHD was such a gift to this family. Their child faced many difficult health challenges, and yet he had no pain or spasms in the end. Amazing.
“…I’ve been hearing recently from a number of people who experienced great benefits in neurological conditions – NBIA, epilepsy, migraines, and others – following the ketogenic version of our diet, and later transitioned to the regular version of PHD with more carbs and less fat, and continued to maintain all the neurological benefits they had first achieved on the ketogenic diet.
Perhaps it was not the ketosis that was crucial, but some other aspect of PHD, such as reduction of inflammation or improved nutrition…”
Another potential factor…could be the ketogenic diet allowed the body to (re)learn how to process fats properly. eg. get “fat adapted”.
ie. comparable to the ‘induction phases’ of some diets, such as Atkins Phase 1 – Induction.
Sending prayers to his family and bidding Mathias a safe journey to be at peace with God. What a wonderful and brave boy.
This is heart-wrenching. I spent 8 days on the ventilator following septic shock after infection BECAUSE of my ketogenic diet. Low carb certainly sounds like it was therapeutic for Matthias and his horrifically unique case, but even for more fortunate individuals it can be life threatening setting a time-bomb.
Thank you so much, Paul, for sharing this sensitive, informed, compassionate and riveting tale of courage and triumph over adversity. We are inspired by Mathias, the courage and optimism of his Mom, and the role you played in improving the quality of his life in the face of terrible genetic odds. If it is true that genetics comprises 25% and lifestyle comprises 75% of outcomes in our lives, we are both humbled by acceptance of genetic reality (that which we cannot control) and cheered and empowered to makes choices over things we can do something about. PHD certainly has given hundreds of people, maybe thousands at this point, a choice in quality of life. What better Thanksgiving message than that? Peggy and Herb
Peggy said it all…thank you Paul and my condolences and admiration to the family.
I had the good fortune and honor of being Mathias’ grandmother. Although we were separated by thousands of miles, I Skyped with him frequently and tried to visit once a year. Until he got worse, my daughter and her family came for Christmas every other year. From the moment he was born, I knew that he was an old soul. At that time, we did not know that anything was wrong and it wasn’t until a few years later that he was diagnosed. God hand picked Mathias’ mother and father. He knew that Mathias would need special care and he could not have picked more loving and devoted parents. I am sure that Mathias was put on Earth to teach and one of the things that I learned from him was that no matter how bad things might be or how much pain you might be in, there is ALWAYS something to smile or laugh about….and he did. He loved playing tricks on people and making them laugh and he did it better than anyone I have ever known. Everyone who came in contact with Mathias adored him. I can only hope that I will one day have had one hundredth of the effect that he had on people. Our hearts are broken but knowing that he is sitting on God’s lap making him laugh like he did all of us makes us long for the day when we will be reunited. Mathias’ life work only took ten years. He was that special. I apologize for the long post and I so appreciate Mr. Jaminet’s kind tribute. Mathias was and always will be our bright and shining star.
Thank you Cheryl. God bless.
I am the mother of Mathias. I want to say a huge thank you, to Paul especially, and also thank you to those who have commented. We will never get over losing Mathias – but we wouldn’t trade our blessing in having him the brief time we did for anything in the world.
As Dr. Seuss said: ‘Don’t cry because it’s over, smile because it happened’. We are trying to, bravely, smile.
Thank you again.
I can’t even begin to,imagine the pain of losing a child. My thoughts, prayers, and honor for this child are with this family. My passion as a nutritionist is to spread the word of wellness and prevent disease. I will always remember Matthias as I move forward with my passion.
“Possibly his genetic mutations disturbed immune function; in any case, the pneumonia led to fatal complications.” It’s ketosis that precipated his immune deficiency. I’m surprised you don’t know this, Paul. Those who VLC for long compromise their immune system, especially if they suffer from degenerative or autoimmune conditions like Parkinson’s, ALS, etc. The first sign you need to watch is the drop in Globulin, which is a marker of your immunoglobulins. Most people who VLC have Globulins under 2.5; the problem is immune deficiency sparked by ketosis tends to be progressive and the reference range is set too high. When someone like Mathias suffers from immune deficiency, he will first start compensating but after a year or two that will give way and will fall prey to respiratory infections, severe allergies, and of course pneumonia. The phenomenon is similar to starvation victims dying ultimately from infections, only that you need not be calorically deficient, only carb deficient. (CF: when North Koreans succumb to starvation, the first sign is their skin change, which dries out and becomes paper thin like paper, just like when you’re in ketosis. Then they die from a “flu.”) Which is why someone with an autoimmune or neurodegenerative condition should NEVER go on a ketogenic diet.
Hi Zorro,
I’m aware of at least some immune deficits on ketogenic diets, but not of an increased risk of sepsis. In diabetic ketoacidosis which is much more severe they have not observed increased rates of sepsis (e.g. http://www.ncbi.nlm.nih.gov/pubmed/22610448).
The statement that people who do VLC have reduced immunoglobulins is new to me. Can you provide a reference?
Best, Paul
Sad that the story turned out like that but I am happy to read that they are able to smile and laugh a lot because of PHD.