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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 a big picture I see.

Artistic Clapboard
 1. Before We Start Anything

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.

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2. Diet and Nutrients

Diet

1. 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 alter activities level of "mutated" mTOR, a diet might not be enough, but I feel that diet makes a big difference in Elizabeth.      

To achieve the same effects of the 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.  And it's good to have lots of various fruits and vegetables anyways.  I give Elizabeth well-washed skins of fruits and vegetable if they are organic.

2. Limit Any Known mTOR Activators  (Limit the volume, but keep a good variety of food)

Restricting mTOR activators didn't stop mutated mTOR from being over-active in test tubes, (citation coming)but I didn't want to feed mTOR activators to Elizabeth more than necessary. 

Things that activate mTOR are Glucose, Leucine, Methionine and Arginine.  Minimizing them translates to a low carb and low protein diet, which is not easy without professional's help.  I first put lots of food data in Exel in January 2021 and came up with mTOR Diet.   It turns to be an extreme diet, so I decided to ask a professional to review it. After several days of mishaps, I found that a dietitian familiar with mTOR is sports dietitians.  Their job is to increase athlete's mTOR to increase their muscle, so I asked her to do the opposite.

Here is a diet plan I made for Elizabeth: Her main food in avocado.  She still eats a variety of food, but I minimize volume of certain foods(***Everyone is different, so please consult with a professional to find what 's good for your child, especially glucose level.)

  • Lots of fruits and vegetables (with skins if organic) for a tiny bit of natural mTOR inhibitors

  • Minimize Any Proteins (Animal protein, vegetable protein, and Dairy) to minimize Leucine, Methionine and Arginine).

  • Eat Avocado, avocado, and avocado. It's the least bad protein source with the best balance of food group.

  • Minimize Seeds and Nuts, but their oil is good ( to minimize Leucine, Methionine and Arginine).

  • Low Glucose and Low Glycemic Index Diet (Ask professional for proper amount)

  • Supplement calorie with healthy fat and oil.(Oils: Olive, Flax seed, Coconut MCT, avocado, perilla, fish oil ) 

  • Supplement the vitamins missing in this diet such as Calcium, iron, Vitamin Bs and Iodine with food and vitamin pills.

  • Supplement what might be good for epilepsy management ( DHA, Vitamin Bs) 

  • Give Calcium Citrate together with fruits and vegetables (To neutralize Oxalic Acids)

  • Monitor with necessary blood tests and make adjustments. 

For Elizabeth's age and activity level, it basically means a vegetarian diet with avocado as main food, with 1-2 table spoons of animal protein or soy product a day, with healthy oils. Minimize Nuts, Seeds, and Dairy,( but nut and seed oil are ok.).    There isn't any  "Diet for SKS established, so dietitians have limitations within the specific diet ordered by a doctor.  But you can tell that this is a rare disease and look for a dietitian, who is familiar with Amino acids, especially Leucine.  Sports dietitians are familiar with increasing the amino acids to activate mTOR for more muscle, and you need to ask for reducing Leucine.    Methionine and Arginine usually come together in Leucine-rich food.

3. Vitamins for SKS and Your Child

Special needs, and ones with Autism or sleep issues sometimes have deficiencies in certain nutrients and vitamins despite healthy diet. They seem incapable of utilizing certain things,  I do some research and give Elizabeth the most bioavailable forms of vitamins because I don't know where the bottle neck is. 

Iron: Her sleep doctor said iron is often lacking for people with sleep issues.(Citation coming)

Vitamin D3: Elizabeth has low Vitamin Ds for example and needs double of daily recommendation to have a normal blood test result. (Maybe she consumes a lot of Vitamin D because it inhibits normal mTORC1 through AMPK signaling pathways.)Ask your doctor to identify, supplement, and monitor what your child needs.

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.  Her blood test is way above normal range. It's a double or triple of normal range max.   I'm currently looking for a reason and may make an adjustment. 

4. Timing 

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.

5. Dose and Breaks

:Vitamin supplements are often sold in large dose.  For many years, I didn't know how common vitamins like Vitamin C and Bs can cause various side effects if given too much.  It's important to check side effects. 

Also, I give her break from some of the daily vitamin routine on some weekends except the ones she takes for epilepsy control..

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3. Neuro-Gut Relationship

Digestive Enzymes

Over-active mTOR decreases Lipase. (Citation coming soon.) Some digestive enzyme mix supplement have more variety of enzymes than what's prescribed. 

 

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.

Neuto-Gut Replationship

 

DNA
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:

  1. Chewing (Feeding Therapy)

  2. Digesting. Her tummy had more volume to process.(Digestive Enzyme mix)

  3. Mobility, ability of intestines to move contents forward. (Turmeric, Magnesium)

  4. Gut Flora ( Probiotic mix, including Lactobacillus Reuteri)

  5. 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)  

By the way, Elizabeth's GI doctor told me to keep using what's working  (the digestive enzyme mix supplement) because that  what's prescribed by a hospital doesn't  include all the variety of enzymes in the supplement.   So I don't know which particular enzymes she needs, but it's working for her.

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.

Pipetting Samples and Test Tube
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 syndromes of overgrowth or mTORpathy, such as TSC, PTEN, and PIK3CA.  Usually, mutation in these genes also over activate mTOR activities, and cause some common symptoms.   They are different syndromes, but are good reference for treating SKS.  

Oncology/Hematology: 

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.     

 

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:

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5. Therapies You 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 .