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 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, any possible future treatments, and the gap between the two.
- To raise awareness among the researchers of various fields of the needs to collaborate and fill the gap. (Fields of Autophagy, tau, other accumulated junk in cells, GABA, epilepsy, circadian system, neuro-gut relationship, mTORC2, etc.)
*Any personal experience is not comparable to any clinical data, that is collected and analyzed in a medically and statistically appropriate way. Please read the disclaimer at the end of this page.
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 syndrome. It's caused by an 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. An answer to my question is usually, "That's a good question". Clinical studies are years away and a little is known to even doctors. The most information I could find was pre-clinical studies in test tubes and animals, and they are not enough to apply to real-life situations with confidence. But I kept reading about "mTOR" in search of answers. I compared that with Elizabeth's situation, and kept thinking what I can do for her now. I get more questions than answers, but I get better questions than before.
There are 40-50 mTOR variations at least and everyone is different even within the same variant. What I share here is my personal experience taking care of my Elizabeth and my personal interpretation about mTOR. What's true to Elizabeth might hold opposite to your child. But to me, stories shared by friends and other caretakers have been always helpful finding more focused questions and clues. I hope this web site will be any help to you.
Elizabeth used to cry in pain all day everyday, but not anymore. After 5 years of my research, trials and errors, Elizabeth is full of smiles and happy babbling. I'm very grateful to my family, friends, and amazing specialists I was fortunate to meet. Elizabeth now makes a very 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, an mTOR inhibiting medicine, that was discovered before the gene was discovered. Rapamycin was found on Rapa Island (Easter Island) where ancient Moai statues stand.
Rapamycin unfortunately doesn't seem to be the ultimate cure for many mTOR variations, although it helps Elizabeth in many aspects. 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. How can we 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. What we need is three parties and strong ties.... the three parties of caretakers, clinical/research doctors and pharmaceutical industries, and the strong collaboration of all of us.
( *The TV schedule is old.).