What Can We Do Now for Some Symptoms
Finding out that your child has a rare disease is devastating, but we need to stay focused on what we can do now and what's ahead of us.
Although SKS presents a variety of tough symptoms to cure, there are things we can do now and in the future. Here is the big picture I see.
1. Before We Start
No Bio Markers and Balance is Everything
When mTOR is overactivated, we want to normalize it, but we don't want to suppress too much either because mTOR is essential to many functions of our cells. The problem is that there aren't any biomarkers to know how much is too much or too little. A blood test doesn't necessarily reflect what's going on in brain. Evaluation of what works and what doesn't usually depends on our observation at home, and that is not always reliable especially for a non-verbal child. That also puts too much pressure on me.
Keep Open Minds to What Your are Trying
The same thing sometimes works differently in different doses, different parts of the body, and in different age groups, and the same thing might work differently in cells with "mutated" mTOR compared to normal mTOR. This is often true for any diet, supplement, or even well-studied medicines.
Keeping Subjective Records
It's important to keep a good log in a systematic way, and take some short videos often. Videos sometimes reveal later what we didn't see when we took the log. Try taking logs in numbers as well as in notes. (For example, the numbers of my eyeglasses kicked by Elizabeth and fly away from my face is a direct measurements of her overstimulation. :)
To get some "unbiased observation", I keep any changes secret from a weekly therapist, and record their observation, too.. Weekly therapists can see the differences better than me watching Elizabeth every day.
Substract before Adding
That's my rule of thumb and often keeps things simpler for observing non-verbal child. Try to see if eliminating something works before adding something new. Test the simplest reason first. IF Elizabeth's repetitive mouth hitting is increased, I try suspecting teething and wait before trying a new thing.
One at a Time
Whenever I found something that might work, I am eager to try everything as soon as possible, but if we try multiple new things at the same time, it's impossible to know what worked and what didn't.. So I try adding or substracting one item at a time and keep some intervals in between. Even one day delay could help identify which worked.
2. mTOR Diet and Nutrients
In January 2001, came up with this diet, hoping to keep mTOR activities as low as possible. It's an extreme diet, so I can do it only with medical professionals' help, and I introduced it gradually. I also ask doctors to check blood tests periodically. In simple words, my mTOR diet made for Elizabeth is a diet with low-glucose index, lots of fat, minimum protein and minimum seeds. It's mainly avocado, fruits, vegetables, and healthy oil, supplemented by vitamins, and more avocado. Here is the detail:
1. Find a Medical Professional to Monitor the Diet:
There isn't any proven "Diet for SKS established, so dietitians have limitations within the specific diet ordered by a doctor. After several days of mishaps, I found that a dietitian familiar with mTOR is sports dietitians/nutritionist. Their job is to increase athlete's mTOR to increase their muscle, so I asked her to do the opposite. Sometimes, your doctor orders low-glucose or Ketogenic diet, which require educating caretakers first, Dietitians' consultation is sometimes limited within such diet orders. I explained that I need a special diet for a rare disease and asked her to give me the minimum and maximum I can try for a normal healthy children.
(***Everyone is different, so please consult with a professional to find what 's good for your child, especially glucose level for epilepsy patients.) (Related article: How to find a professional, coming later)
2. Limit mTOR Activators
In test tube study, restricting known mTOR activators didn't stop SKS's mutated mTOR from being over-active, ( Test Tube study, citation coming),but I decided not to give any known mTOR activators to Elizabeth more than necessary.
Minimize Glucose, Leucine, Methionine and Arginine
These are known mTOR activators, but then what should I cook for Elizabeth? My strategy is a low glucose-index and low protein diet. Ketogenetic diet is difficult, so I started with low glucose-index diet. I learned that all good proteins from animals, dairies, vegetables, seeds, non-dairy milk made of seeds have those amino acids, so in January 2021, I first compared food data in spreadsheet to see which food has less of these amino acids for each gram of protein. The least bad protein is avocado and the second bad was lentil. Soy and seeds are as bad as animal and dairies. (My data will be posted later.)Among the three amino acids, Leucine is the first to avoid. (Dr. David Sabatini) and I found that Methionine and Arginine are almost always high in Leucine-rich food, so I focus on minimizing Carbohydrates and Leucine-rich food. Leucine is water soluble and seeps into soup, sauce, and non-dairy milk made of seeds, but not into oil. I still give all of above, but I just limit the amount.
Limit the amount low through the day but keep a good variety. The mTOR activation is proportional to the concentration level of mTOR activating nutrients. (Dr. David Sabatini's test tube study, Citation coming). So I think keeping the level low and steady is more important than limiting the total intake of the day. For carbohydrates, This means that I want low glucose index food. Such food helps the blood glucose level raise slowly and come down slowly. I also try lowering the glucose index of high-carbohydrate food by mixing oil and fiber. (Ex. cook rice with hydrated agar-agar, served with healthy oil or inulin) She gets small portion of meals/snacks often than 3 big meals.
3. Natural mTOR inhibitors in Food
A various Phytochemicals and Flavonoids in fruits, vegetables and spices are found to inhibit mTOR in test tubes, which are often studied for "normal" mTOR. To affect over-active "mutated" mTOR, a diet might not be enough. For example, to achieve what's observed in a test tube study, you might need to eat a bucketful of celery a day for example, (Citation coming soon) but it's not that bad at all for some other foods.
So I give a variety of fruits, vegetables, spices and herbs. If they are safe and healthy, why not?
I also give Elizabeth well-washed skins of fruits and vegetable if they are organic because they tend to be rich in those phytochemicals and flavonoids.
*The only draw back is that they tend to be high in Oxalic Acids. OA causes stones in urinary tract and it might not be good for autism. If vegetables are taken with Calcium, OA is neutralized, but her blood test result was very high because she is intolerant to dairy. I give Calcium Citrate together to solve it.
To supplement calories that are missing from the diet, I give healthy oil, especially MCT coconut oil with high Capric acid (C-10) content. I give her the MCT oil each meal/snack, and other oil daily. Other healthy oil includes olive oil and fish oil, Oil made of seeds, such sesame, peanut, sunflower is free of the mTOR activating amino acids.
* Warning: Capric acid in MCT coconut oil might work in a similar way as Valproic acid does. It possibly does the anti-seizure work of Ketogenetic diet independently from actual Ketogenetic diet, (Citation later). So, anyone taking Valproic acid needs to consult medical professionals and ask the maximum capric acids you can take to avoid any side effects such as liver damage in a long term.
Add What's Missing in the mTOR Diet:
By eliminating certain foods, you might be eliminating some good things, too. What's missing need to be added by food or supplements. Elizabeth's mTOR diet is low on Vitamin Bs, Calcium, Iron and Iodine, for example. So I choose these protein to help with the vitamins: Chicken liver, whole baby anchovies, and pork. For iodine, I give her kelp or replace salt with iodized salt
When I reduced carbs and sprouted brown rice from her diet, I thought of what I reduced besides carbs. She probably lost some vitamins and GABA, so I add back brown rice bran.
Vitamin for SKS:
Special needs, and patients with Autism or sleep issues sometimes have deficiencies in certain nutrients and vitamins, regardless of what they eat. They seem incapable of utilizing certain things, and supplementing them might help them.
-Vitamin D3: Elizabeth has low Vitamin Ds for example and needs double of daily recommendation to have a normal blood test result. (Maybe she needs a lot of Vitamin D because it inhibits normal mTORC1 through AMPK signaling pathways.)
-Iron: Her sleep doctor said iron is often lacking for people with sleep issues.(Citation coming)
-P5P form of Vitamin B6: Her epilepsy doctor recommends B6 to minimize the side effects of the epilepsy medicine Elizabeth is taking, but her metabolism of B6 is strange, and what's fine for other children seems too high for her. Her blood test is way above normal range max . (double or triple) I'm currently reducing it, and it seemed to reduce her stimming.
Side Effects, Dose, and Breaks
Vitamin supplements are often sold in large dose, but too much is not good, either. Even vitamin Cs and Bs can cause side effect if they are given too much. So I always check information on side effects for any supplements. I ask her doctors to monitor her blood tests periodically and we review dose. Also, on some weekends, I give her break from some of the vitamins, except the ones she takes for epilepsy control.
Supplement Forms and Brands
I try choosing the most bio-available forms because I don't know where in the metabolism process she has issues to have the deficiency,. For example, I give her D3 instead of D2, and P5P form for Vitamin B6.
I also choose the best timing for vitamins. Some exit our body quickly and better be divided and given often. I give Elizabeth Vitamin B12 in AM and avoid bed time because they can overstimulate her.
6. Digestive Enzymes
Digestive Enzyme at each meal is a must for Elizabeth. Please see the next section, Neuro-Gut Relationship.
Summary of mTOR Diet for Elizabeth
*Please consult with a professional to find good balance for your child's age, activity level, and epilepsy status.
Low Glucose and Low Glycemic Index Diet
Minimize Any Protein (Animal Protein, Soy, and Dairy) and animal based broth to minimize Leucine, Methionine and Arginine. The least bad protein seems Avocado, and then the second is Lentil. (My analysis chart coming later.)
Minimize Nuts and Seeds. ( but nut and seed oil are ok.).
Lots of fruits and vegetables (for a tiny bit of natural mTOR inhibitors, just in case.)
Supplement calorie with healthy fat and oil*.(Oils: Olive, Flax seed, Coconut MCT rich with Capric acids(C10), avocado, perilla, fish oil ) ***The Capric acid (C10) is not to be confused with Caprylic acids (C8). "MCT oil" usually has higher Capric acids (C10) than "Liquid coconut oil" that has more C12.
Supplement missing vitamins such as Calcium, iron, Vitamin Bs, iodine, with food and vitamin pills.
Supplement what's good for epilepsy
Give Calcium Citrate together with fruits and vegetables (To neutralize Oxalic Acids)
Digestive Enzyme at each meal and good mix of probiotics and prebiotics.
3. Neuro-Gut Relationship
Many of SKS has issues in digestive tract, and even if your child doesn't, more evidence have been found on neuro-gut relationship. The condition of our digestive tract could affect our brain and vice versa. At first, I didn't believe that at all, but the number of our gut flora, probiotics and bacteria and such, is as big as the number of our own cells, and can have a big impact. Elizabeth had the following GI issues and solutions:
Chewing (Feeding Therapy)
Digesting. She doesn't digest well and her intestine had more volume to process.(Digestive Enzyme mix)
Mobility, ability of intestines to move contents forward. (Turmeric, Magnesium)
Gut Flora ( Probiotic mix, including Lactobacillus Reuteri)
1-4 are resolved Rapamycin?
(Somehow, all of Elizabeth's GI issues seemed resolved when Rapamycin dose was higher, (One time observation). . She cannot have the high dose anymore, so now she's back to all 5 above.)
Elizabeth did an expensive comprehensive analysis of her gut flora, after she happened to have a triple antibiotic treatment for H. Pylori. Since most of good and bad gut flora were gone anyways, maybe the test wasn't necessary, but in the process I noticed that she's not digesting well.
(Maybe some SKS have long torso, because like herbivores, their intestines need to be longer to digest food. IMO)
Digestive enzymes solved many of her issues with Gastrointestinal issues. She wasn't constipated, but she had to pass large volume of stool several times a day to stay out of pain. She needed tummy massage and Magnesium or Turmeric to keep her intestine moving.
In 2019, I noticed that Elizabeth is not digesting food well, and her stool had colors of food. After giving her digestive enzyme mix, the color improved, the volume decreased, and she become pain free.
(Maybe some SKS have long torso, because like herbivores, their intestines need to handle more volume of food, in my opinion.)
I found an article about over-active mTOR decreasing Lipase. (Citation coming soon.) But I give her a mix of Papain, Bromelain, Protease, Cellulase, and Alpha-Amylase besides Lipase. (Optional Lactase .) Supplements usually have more variety of digestive enzymes than what's prescribed by a doctor.
Probiotics for Autism
There are many probiotics to be studied, but there are certain probiotics clinically proved to be beneficial for certain things. More coming soon with citations.
Be careful with Miralax. I'd use it for prevention of constipation, but once tummy is bloated, I don't want to add more volume with Miralax.
4. Which Specialists to See
It's very hard to find a clinical doctor, who's ever heard of SKS, which is relatively new. It's harder to find a SKS specialist locally, and there isn't any official treatments set for SKS, but we can explain the situation and try getting referral to these specialists. It might shorten your journey of finding a good match.
Neurology, Epilepsy, and Genetics:
Someone familiar with similar overgrowth syndromes or mTORpathy, such as TSC, PTEN, and PIK3CA. Usually, mutation in these genes also ends up over-activating mTOR activities, and cause some common symptoms. They are different syndromes, but they are good reference for treating SKS.
It took me a while to find an SKS specialist hiding in these departments. MTOR is extensively studied in Oncology/Hematology and some of the doctors there might be familiar with the patients of other mTORpathy mentioned above. I wonder if these fields have more doctors specialized in mTOR than in neurology and they are familiar with mTOR inhibiting medicines, old and new in some hospitals.
When our brilliant neurologist made a referral and sent us there, a doctor looked at us like "Why are you here?", but once we met an mTOR specialist there, she knew what I was talking about and answered to my questions before I finished my sentences. They are busy taking care of life-threatening conditions, so it might not be easy to find a doctor, who is willing to see an SKS, but our job is to treat our child even for a minor cold, and these departments have mTOR experts. We are thankful to meet a doctor, who does clinical trials of new mTOR-related inhibitors, but in the US and Europe, hospitals participating in those trials, such as MOSAIC project. (PIK3CA-related Overgrowth Spectrum and Proteus Syndrome) might be also familiar with mTOR-related syndromes. (Check here later for more updates on related p0those clinical trials.)
Clinical Dietitian (Sports Dietitian): One day, I called the Dietitians' Department and said "I need a special diet for a very rare disease. It might not fit in doctors' any diet order, but would you help me finding a dietitian, who knows about limiting Leucine, Methionine, and Arginine?" I was introduced to someone familiar with sports diet. The reasons is that they help athletes with increasing muscle by activating mTOR with those amino acids. We just need to ask them to do the opposite, limiting the Amino Acids while keeping the minimum requirements for growing child. We can focus in Leucine because it has the most impact on mTOR (mTORC1) and the other two usually come together with Leucine-rich food.
Besides the Amino Acid, I also wanted to limit glucose or at least Glycemic Index in hope to manage mTOR level. However, regarding, Glucose, a dietitian's job is often limited within the order that other doctor make, such as Low Glucose diet or Ketogenic diet. mTOR could affect glucose level, and limiting glucose could become dangerous if not done right, so it's important to work with a medical professional for managing glucose level.
Please see the various Therapies in the next section:
5. Therapies We Can Start Now
Sometimes waiting time is long to start a therapy, but we can always incorporate therapies in everyday life:. here are things we tried.
ABA Therapy: Applied Behavior Analysis is very effective for Autism, which many, if not most of mTORpathy patients develop in early childhood. Some insurance doesn't accept , but I believe it's also very effective for Intellectual disability. Although Elizabeth tried carious treatments, ABA therapy for sure accelerated and made a huge impact on Elizabeth's cognitive skills. They often incorporate all other therapies in their program, take extensive and objective data, and some offer services at home.
If it's not available to you, your state or your insurance, then, you can learn the method online and try it at home. The method sure help in other therapies, too.
Daily Therapies at Home:
Feeding Therapy: Some SKS has issues with drinking mother's milk, feeding, swallowing.
I was lucky to find a Speech Therapist that can also to Feeding Therapy,
While OT helps with bringing food to mouth, feeding therapists teach what to do the next. They teach how to move food to the side, chew, and swallow. They might ask for swallow study as a part of initial evaluation.