Smith Kingsmore Syndrome
Also known as
Macrocephaly-Intellectual disability-Neurodevelopmental Disorder-Small thorax syndrome
Moving a Moai
My little Elizabeth is a 8-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. Her over-active mTOR affects many functions of her cells, and Elizabeth has global developmental delays, intellectual disability, autism and epilepsy as major symptoms.
A rare disease means there aren't any officially approved fundamental treatments, but what can I do for Elizabeth today? How can I make her smile more? Here I share my personal journey of taking care of her and my interpretation of how mTOR has affected her. I'll keep updating this website to talk more about the various symptoms that her over-active mTOR affected, the specialists and treatment options I found for the symptoms, the mTOR inhibitors and other treatments we tired, the diet, vitamins, and others that helped and didn't help her, the biomarkers I'm searching to estimate her mTOR activity level, and my wish lists of microstudies and future researches. Please sign up for my blog to receive any update notification of this site. (No more than monthly. )
An answer to my question about mTOR is usually, "That's a good question" because although we are fortunate to have researchers interested in mTORpathies, any clinical studies on treatments, new medicines and gene editing are still years away. But we are also fortunate to have researchers, who have done lots and lots of
mTOR-related pre-clinical studies in test tubes and animals. Although pre-clinical studies are not enough to be applies to real-life situations with confidence, they give me some clue for safe options that I could try for her today. I kept reading about "mTOR" in search of answers, and I compared that with Elizabeth's situation. I get more questions than answers, but I'm getting better questions than before.
There are 40-50 mTOR variations at least and everyone's symptoms are different even within the same variant. What's true to Elizabeth might hold opposite to your child. But to me, any stories and experiences shared have always been helpful finding more focused questions and clues. I hope this web site will be any help to you. For more general information and to participate in current registry collecting SKS data, please refer www.SmithKingsmore.org.
Elizabeth used to cry in pain all day everyday, but one simple treatment I tired stopped her cry. 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 discovered and named after Rapamycin, an mTOR inhibiting medicine was discovered. Rapamycin was discovered 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 and others in many ways. Each one of the medical fields related to mTOR is huge and needs a village of researchers to fully understand mTOR and SKS. 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? What we need is three parties and strong ties.... the three parties of caretakers, doctors and pharmaceutical industry, and the strong collaboration of all of us.
Someday, moving a Moai will be easier than we imagine now.... like in this video.
Please contact Mari at firstname.lastname@example.org for any comments and any request for monthly notification of the site updates.
( *The TV schedule is old.).