BIG PICTURE: Strategies for the Present and Future
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 the big picture I see.
1. What can we start now to manage symptoms.
My Elizabeth used to cry almost all day. After wondering why for a few years, I finally found that all she needed to become pain free was a tablet of digestive enzymes. This is one example of things we can do now.
Find any clues of what causes some symptoms and simple remedies you could try at home.
Which specialists do we see for SKS symptoms?
What's too little and what's too much in their body? Ask your doctors to test any deficiencies of macro and micro nutrients.
What kind of diet could be helpful for mTOR?
2. Try repurposing old and new medicines.
A handful of gene mutations have medicines to treat and SKS is one of them. The medicines are used for other purposes and they are not currently approved officially for SKS, but they can be repurposed for SKS and other mTOR-related symptoms, depending on the regulation in your country.
The medicines are not a simple cure because mTOR is very complicated, but they help Elizabeth, and new mTOR inhibitors are always being developed for oncology, as options for SKS to try in the future.
Rapamycin (trade name Sirolimus) and Everolimus (Afinitor) are globally available for other purposes and at least one new mTOR inhibitor is proceeding to the next clinical trial in the US.
What are the experimental options for SKSs? How did they help Elizabeth?
How do we create a clinical trial? How do we set the end goal and evaluation methods when the number of patients are very small?
What are the issues and future goals?
3. Gene Editing in the Future
If one of the medicines work well, that'll be nice, but ultimately, we'd like to edit the gene itself, which is reaching to a reality in the near future. Currently, delivering the treatment to brain is being researched.
Antisense Therapy might become more practical sooner, but the treatment might be repeated every few month, and I'd imagine it would be a challenge to determine balance how much activities of mTOR to inhibit or how much activities of which mTOR Complexes to inhibit for each mTOR mutation variant.
DNA Editing would be the one time and permanent treatment to replace a mutated part of DNA with a correct one, and the treatment for a single-gene like mTOR mutation would become available sooner, but it's harder to develop a treatment for a single variant with single or a very small number of patients.
I think one treatment to replace a long chain of DNA that includes every patient's variant would be ideal, but it needs more time to make it possible.
4. Beyond Gene Editing
Let's say we reach our ultimate goal of fixing the mutated genes and her mTOR activity level becomes normal. But Elizabeth's brain already has physical abnormalities, that are probably not possible to fix.. Is there anything we can do about it? For her hypo-myelination, there is a medicine currently being developed.
I'm overwhelmed thinking of how to reach all the way to the stage 4, but we cannot forget to focus on her happiness in every day life. I want her to be smiling when she wakes up and I want her to be smiling when she goes to bed everyday.