Smith Kingsmore Syndrome
Also known as
Macrocephaly-Intellectual disability-Neurodevelopmental Disorder-Small thorax syndrome
What is SKS (or MINDS)?
What is mTOR?
What We've Tried:
Rapamycin, Everolimus, Supplements, Stem cell Therapy
Q & G
(QUESTIONS & GUESSTIMATES)
RESEARCHES & NEWS
My little Elizabeth is a 6-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.
Elizabeth mainly has global developmental delays, intellectual disability, autism and epilepsy. She used to cry in pain all the time, but after lots of online research, specialists' help, my trials and errors, she's now full of smiles and happy babbling. She now makes a slow but steady developmental progress and she even knows how to play cute to get a treat from me.
There are subcategories and many variations of MTOR mutations, and there are also other syndromes/genes that affect mTOR activities. Even within the same variation, the symptoms and severity vary a lot, but I hope my personal experiences and information would give you helpful clues for bringing more smiles to you and your loved ones.
I also hope my web site would be helpful with raising awareness to the doctors and researchers in various fields including those for other mTOR-related syndromes to bring their expertise to cope with this rare syndrome together.
Good Luck with your Journey.