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SKS MINDS

Sharing
Knowledge and
Smiles with
mTOR communities

SKS MINDS

S
K
S
mTOR

Smith Kingsmore Syndrome
Also known as
Macrocephaly-Intellectual disability-Neurodevelopmental Disorder-Small thorax syndrome

Please read this first. 

Purpose of This Website

-  To share my personal experiences of the treatments so you can ask better questions to your doctor.

  (Therapies, mTOR diet, Stem Cell Therapy, Rapamycin, Everolimus, and more) 

- To share pre-clinical mTOR studies, future treatments, and the gap I see between the two.

- To provide the opportunities for researchers of various fields to collaborate and fill the gap. (Fields of Autophagy, tau, other accumulated junk in cells, GABA, epilepsy, circadian system, neuro-gut relationship, mTORC2, etc.)

Image by Thomas Griggs

Moving a Moai

My little Elizabeth is a 7-year old girl, who loves music, food, and books.   In May 2018, at the age of 3, she was diagnosed with a rare mTOR gene mutation.  mTOR affects many functions of our cells, and Elizabeth has global developmental delays, intellectual disability, autism and epilepsy as major symptoms. 

 A rare disease means there aren't many approved fundamental treatments and little is known to even doctors. I have asked many questions, and the usual answer to my question is, "That's a good question". I kept typing "mTOR" online to find better questions.  What's shared here is the experience, the observation, the views and the interpretation of medical articles by one mother of one patient, which might not be accurate.  There are 40-50 mTOR variations at least and everyone is different.  Please understand that it's your responsibility to doublecheck updated and ever-changing facts about mTOR with your doctor before you try what I've tried. 

She used to cry in pain all day, but not anymore. Elizabeth is full of smiles and happy babbling after 5 years of my research, trials and errors, and the help from amazing specialists I was fortunate to meet.  Elizabeth now makes a slow but steady developmental progress and she even knows how to play cute to get a treat from me.   So, I hope you'd find something helpful here to shorten your journey and bring more smiles to you and your loved ones.

MTOR gene is named after Rapamycin, a mTOR inhibiting medicine, that was discovered before the gene was discovered. Rapamycin was found on Rapa Island (Easter Island) where ancient Moai statures stand.

MTOR controls a long list of cell functions so unfortunately Rapamycin isn’t the ultimate cure, although it helps Elizabeth a lot.  Each one of the medical fields related to mTOR is huge and needs a village of researchers to fully understand.   As a mother, my journey to find a cure for Elizabeth feels like moving a 90-ton Moai statue.  What’s the easiest way to move a Moai with our limited resources?  Fortunately, numerous preclinical studies have been already done in many medical fields. 

Someday, moving a Moai will be easier than we imagine now.... like in this video.   All we need is a 
collaboration of three parties and strong ties of caretakers, doctors and researchers. 


https://youtu.be/YpNuh-J5IgE

What is SKS (or MINDS)?
What is mTOR?
Coming Soon
Compass Pointing North
BIG PICTURE
Strategies for the Present and Future
Alternative Medicine Supplies
What We've Tried:
Rapamycin, Everolimus, Supplements, Stem cell Therapy  
Stuffed Avocado
NUTRITION &
DIET
Cute Girl
Q & G
(QUESTIONS & GUESSTIMATES)
Coming Soon
RESEARCHES & NEWS
Coming Soon