Reversal of untreatable genetic neuromuscular disease SBMA on keto


(Todd Allen) #1

Don’t call this science as it’s my anecdotal report of an informal study of 1, myself.

SBMA aka Kennedy’s disease has symptoms most similar to ALS aka Lou Gehrig’s disease but a much slower rate of progression. Progression can be so slow that some with the disease live a full life though many die young from things old people die from such as heart attacks, stroke and pneumonia. SBMA is one of 9 known polyglutamine (an expanded CAG repeat) diseases and the one with the weakest correlation between repeat length and the severity/rate of progression.

Last April, at 52, I expected to die soon. A friend with the disease, 1 year older and eerily simiilar to myself as if my brother, died from a stroke. My blood pressure was sky rocketing despite medication.

At 40 I could still eke out slow grueling 100 mile bike rides. But despite my efforts to slow the disease through exercise and diet - going vegetarian, almost vegan, increasingly avoiding any fat, especially saturated fat, by 52 I gained 15 lbs while losing another 30+ lbs of muscle. I could still stand and walk a few feet but would fall several times each day and my neurologist had been trying to get me to give up on the idea of walking to save me serious injury after numerous minor injuries & fractures, etc.

I began an aggressive diet in May. I was eating roughly 2000 calories/day roughly 80% carbs and 10% each protein and fat. I had been increasingly suffering symptoms of diabetes for years despite my fasting blood glucose never going over 130 and my doctors saying that showed I wasn’t diabetic. But I wasn’t convinced and after some reading I decided to go cold turkey on all high glycemic carbs, nothing with added sugars, no bread, no fruit juice, etc. which dropped me to ~1000 calories/day.

I lost 10 lbs in a month and was feeling better when I was warned to slow weight loss to 1 lb a week as a rapid release of fat sequestered toxins could aggravate my neuro degeneration. Starting to question the wisdom of a high carb almost vegan diet I added back about 600 calories daily, mostly fat and protein adding grass fed meat and dairy to my diet and I continued improving.

A month later a new study on my disease was published. It was done in Italy on mice engineered to express my diisease aggressively with a very high repeat count. They put some of these mice on a “high fat diet” (45% fat…) and they lived TWICE as long as mice on the standard mouse chow diet with far less wasting.

After more reading I decided to throw caution to the wind and transition to a keto diet. I’ve made many other changes and I don’t know how big a factor dietary changes have been in my recovery but I now expect to live a full life.

All of my most aggravating medical conditions are abating. I’ve stopped taking any medication. My blood pressure is good, HDL up 250%, triglycerides less than half, CRP and HbA1C each down ~25%, weight down 35+ lbs while gaining several lbs of muscle, etc. I’ve resumed walking, biking, swimming and weight training and have been making gains in each. I’m looking forward to adding jogging and dancing and I’ve never been able to dance.

I’ve told researchers studying my disease my story and while there was modest interest mostly I was cautioned to be more careful and discontinue my experimentation with an unproven dangerous diet. And this is despite a lot of recent research indicating that my disease has a major metabolic component, that muscle wasting actually precedes neurodegeneration, that insulin insensitivty, dyslipidemia, NAFLD, etc. are all significantly elevated and genes involved with glucose metabolism in skeletal muscle are markedly down regulated with SBMA.

There’s still no approved treatment for my disease and research is focused on finding a pill. I’m focused on attaining as far as possible a body builder’s physique to hopefully inspire others with my disease to stop waiting for a safe pill like the recently trialed BVS857 which caused an immune response against both the drug and one’s insulin, and instead try a dangerous diet.


(Larry Lustig) #2

Beautiful.


(Barbara Greenwood) #3

Fantastic… is there any sort of patient group for this disease, so you can share your story with others who might benefit?


(Cathy Schroder) #4

What a fantastic result!


#5

Wow. I’m so glad you ignored the medical advice and turned to keto. Absolutely amazed at what you’ve done.


(I want abs... olutely all the bacon) #6

[quote=“brownfat, post:1, topic:7858”]
I’m focused on attaining as far as possible a body builder’s physique to hopefully inspire others with my disease to stop waiting for a safe pill like the recently trialed BVS857 which caused an immune response against both the drug and one’s insulin, and instead try a dangerous diet.
[/quote] Congratulations, throwing caution to the wind is such a wondrous feeling, I love how you are Paying it Forward. Thank you for sharing and please keep us up-to-date on your journey.


(Todd Allen) #7

Yes, I’ve shared my story with a modest number of others with SBMA via the internet and in person through a conference in November. I don’t think I’ve been persuasive enough (or perhaps not credible enough lacking formal education and credentials in biology, healthcare and nutrition) to inspire anyone to try keto though I do know of one who has since cut sugar with moderate benefit. And I’ve only discussed a keto diet as a part of the many different things I’ve been trying to address the disease. I feel it’s an important part, perhaps the most important but I’m hesitant to more forcefully endorse it when doctors and researchers mostly responded negatively, some forcefully stating I will damage my insulin sensitivity, my cardiovascular health, my liver, my kidneys and exacerbate hormonal imbalances, etc., urging patience and less desperate foolhardiness… Almost the polar opposite of everything I’ve been experiencing. Which is a reason for me joining this forum. I hope to learn here how real are the risks professionals are warning me about and to what degree the various benefits I’ve experienced might actually be due to going keto.

For example at the conference during a presentation by an SBMA researcher on the unexpectedly high occurrence in people with SBMA of non-alcoholic fatty liver disease she made the remark, but fortunately NAFLD can be treated with healthy diet and lifestyle changes which we will be studying. I interrupted to ask what would be a healthy diet to address NAFLD? She responded low fat, especially very low in saturated fat and rich in phytonutrients. During the followng Q&A I mentioned a study I found during her presentation that suggested a LCHF diet was helpful, She pointed out how many nutritional studies are flawed by small sample sizes, failure to properly isolate & manipulate the tested variable, placebo effect, etc. and not to give too much weight to a single study versus the vast consensus of historical data. I blurted out much too emotionally I had been increasingly following her heathy diet while my liver biomarkers deteriorated and as I transitioned to keto they reversed and are halfway back to normal. The moderator stepped in gently admonishing me that this was Q&A with the researchers and not an appropriate time for contentious statements based on personal speculation.

If my knowledge and confidence in that knowledge continues to improve and my gains in health and fitness continue I could more readily overcome such resistance and I would expand my efforts to reach and persuade others with SBMA to give it a try. If everything goes right and I manage to inspire a couple others to make changes that are beneficial it ought to start snowballing. But it appears I’ve now got plenty of time to work through this and rushing it might backfire.


(Barbara Greenwood) #8

The thing about anecdotes - or n=1 experiments, as they are sometimes called - is that if YOU are the 1, and your disease markers are improving, well, for many of us that is sufficient reason to continue on the path you are on.

As for all the things they say are going to get worse on a ketogenic diet, well, the obvious thing is to do the tests and monitor you. But if (as I suspect) your insulin resistance, CVD markers etc all get better on keto, they will have to shut up!


(Todd Allen) #9

I suppose there could be some satisfaction getting naysayers to shut up, but I’d really like to have one or more get interested / inspired enough to join me in exploring this.


(Stickin' with mammoth) #10

Word to the wise: “dangerous” is spelled D-E-L-I-C-I-O-U-S.


(Todd Allen) #11

A research paper from Japan published last month found a strong correlation between insulin resistance and severity of my disease. Finally a credible source promoting my crackpot idea. Now I just need to convince others that a ketogenic diet is an important element in reversing insulin resistance - a much easier task due to resources like this forum.

The paper also explores what may be a protective adaptation slowing the progression to diabetes. The insulin resistance appears to start in muscle tissue and progress to the liver and somewhere in the progression (I think quite early) elevated adiponectin from white fat boosts metabolism and increases glucose disposal through means other than muscle resulting in lowered HbA1C - for a while. My theory is it is brown fat to the rescue (and hence my handle). Interestingly though I developed full blown symptoms of raging diabetes while my FBG and HbA1c were low and I wasted so much time, effort and money with doctors vainly seeking causes of diabetic symptoms for 20 years while being assured I wasn’t diabetic and only made it to pre-diabetic levels of glucose measures near the end.


#12

Fantastic! Keep it up! You may not be able to be the sole voice of reason, but your testimony along with your lab reports and diagnoses and before and after photos may join with other voices and go a long way in pulling others into this WOE


#13

I have two relatives who were recently diagnosed with myotonic dystrophy type 2. It sounds like a similar disease and I also found a paper saying that insulin resistance was present in most people with myotonic dystrophy.


(Todd Allen) #14

Zyrnil, yes the myotonic dystrophies look like completely different diseases with many similarities to mine. I expect insulin resistance will be found as a factor in most neuro-muscular disorders. Muscle stores and consumes a lot of glucose and any disease that degrades muscle likely contributes risk for developing metabolic syndrome/insulin resistance which leads to many chronic diseases of aging from diabetes and obesity to heart and liver disease.

In my disease it increasingly looks like developing insulin resistance accelerates the disease and targeting/reducing insulin resistance is therapeutic. A quick search on MD2 didn’t find evidence that insulin resistance accelerates the disease though I still wouldn’t rule out subtle feedbacks. And reducing insulin resistance would still likely be valuable to avoid the other problems it causes.


(Sharon) #15

I have been diagnosed with Myotonic Muscular Dystrophy and stumbled onto this post. No cure, just wasting. I have nothing to lose by trying this diet. I have joined Ketogenic Forums and look forward to reading up all the good advice the pros have added as to be successful.


(Branden Joseph) #16

Looks like I too have Kennedy’s disease. 29 years old. Been battling symptoms since I was 22.

After doing the diet for over a year, how effective has it been for insulin? My insulin is a 40 right now. Was 28 a year ago. Also, does it feel like it has slowed the progression to you?


(Todd Allen) #17

Branden my fasting insulin has dropped excellently low. But it looks like I still have significant insulin resistance based on my reaction to carbohydrates. This morning before breakfast my blood sugar was 88 mg/dl. I had about 15 net grams of carbs from vegetables, nuts, a little fruit and yogurt which 15 minutes later shot my blood sugar up to 118 mg/dl. I immediately went for a 1 mile walk to keep it in check and afterwards I was back down to 96 mg/dl. This is a poor response to that amount of carbohydrate but by keeping a close eye on it I am able to keep my blood sugar from rising to damaging levels while following a fairly relaxed version of a keto diet which I can comfortably maintain indefinitely.

I’m 54 with 50 CAG repeats. I felt very diseased and deteriorated fast in my 40s trying to be healthy following standard dietary advice of low fat and high carbs from breads and fruit, etc. I was hooked on orange juice and I believe it did a lot of damage. At my nadir my legs would buckle and I would collapse after just a few steps and I spent most of my time on my mobility scooter. My fasting blood sugar wasn’t quite bad enough for a type 2 diabetes diagnosis but I had major symptoms of diabetes. Over the past 2.5 years I’ve been slowly recovering. I now spend most of my time on my feet and can walk a mile in 30 minutes with a walker or an hour unassisted. While my physical performance is still awful by most people’s standards I am optimistic as my life is so improved by the gains I’ve made and my trajectory is still positive. I no longer feel diseased, just damaged, like some one recovering from a severe accident and too much time in a full body cast.

I had a lot wrong besides consuming carbs in excess of my tolerance. High stress work, poor sleep, significant toxin exposures, damaging exercise practices, etc. In addition to working on fixing all of those things I’ve also been seeking and testing a very wide range of things that may counter the disease. It’s very challenging though to sort out what works and what doesn’t as life constantly gets in the way of testing things cleanly in isolation and I’m too impatient to give each thing sufficient time before adding other things into the mix.


(Bob M) #18

That is a great story.

Is your disease at all an auto-immune disease? If so, you might consider going the next step and going to full-blown carnivore (eating nothing but meat), particularly (gasp!) red meat. I think one reason carnivore works is that it’s the ultimate elimination diet. You’re basically eliminating all chemicals from plants and other food.


(Todd Allen) #19

No it’s not considered a auto-immune disorder. It’s a mutation of the gene that produces the androgen receptor protein (protein which binds to male sex hormones such as testosterone and DHT to enable their signalling function). There are minor symptoms due to reduced sex hormone signalling but most of the damage appears to be caused by poor clearance of the protein after signalling. It accumulates and disrupts the expression of a very large number of genes. Many of the affected genes are involved in metabolism imairing the ability of a host cell to care for its mitochondria. Mitochondria are symbiotic bacteria that oxidize our fuels - glucose, fat and proteins to provide our energy in the form of ATP. Mitochondria have evolved to be super efficient reproducers by losing almost all of their genome as host cells evolved to handle the lost functions. It’s a fragile arrangement that breaks down for a huge number of reasons and it looks like most degenerative diseases of aging such as cancer, heart disease, alzheimer’s, diabetes and many diseases of nerve and muscle involve degraded mitochondria. Often their membranes become damaged and leaky and they release excessive toxic oxidation by-products. When things get bad and mitochondria die too fast or in ways that prevent controlled recycling their breakdown process releases compounds the body considers to be foreign bacterial endotoxins which does produce an inflammatory response which shares things in common with auto-immune disorders.

There are important beneficial compounds with respect to my disease primarily found in animal foods such as dha, epa, B12, creatine, carnosine and carnitine and I’ve come to believe it was a huge mistake to have cut back and for a while eliminated animal foods in my low fat days seeking better health. But there are a vast number of plants such as tumeric, tea, cocoa, peony root, capers, lapacho, chamomile, licorice, broccoli sprouts, cinnamon, etc. also with compounds potentially beneficial for my disease and I think I’m best off trying to optimize their benefit to harm ratio rather than excluding them.


(Wilhelm Liljencrantz) #20

Hello Todd, that is simply fantastic results you are experiencing. I have also been diagnosed with KD and therefore find it especially interesting. So, I wonder if I can connect with you via email outside this forum since I would like to ask you about things in more detail. How are things now with you, continued progress? Are you on a strict Keto diet? Do you also do intermittent fasting? Do you have any good tips on how to get started with the Keto diet? I am a bit afraid of losing more weight since I am already thin. It would be super if we could connect! If it works it is truly revolutionary! Best, Wilhelm