If that’s okay I would like to ask the HN community for their advice on a personal matter.

My beautiful daughter Nil (3yo), has a rare genetic disorder called Kleefstra Syndrome (KS). She cannot walk or talk at this point. Doctors believe she will walk eventually, but speech they are not so sure about. KS involves partial chromosome deletion (or sometimes mutation) of a particular gene, EHMT1, which in turn causes a protein called GLP not to be produced. Moderate to severe Intellectual disability, limited/absent speech are some of the symptoms.

KS was first “discovered” in 2010. Thanks to “whole genome sequencing”, it is now possible to diagnose KS with a single draw of blood. Maybe that’s why we are hearing about KS kids more often in our community.

We have a non-profit foundation based in the US ( https://www.idefine.org ) to improve awareness and lead/fund potential research for KS. Also, there are already two active pieces of research that provide potential improvement for these kids. One explores drug repurposing ( https://www.nature.com/articles/s41467-019-12947-3 ), the other is about supplementing the missing proteins ( https://www.sciencedaily.com/releases/2021/09/210921100245.h... ). Both have very promising results but are not close to clinical trials yet.

Still, several potential treatment modalities need to be explored in depth. Antisense Oligonucleotide Therapy (ASO), gene therapy (CRISPR), drug repurposing are a few modalities to name.

Known KS individuals sum up to only a few hundred patients so far. When the patient count is so low, pharmaceutical companies are not interested in pursuing research for that disease, so patient organizations are forced to fund their research themselves. This has been done by several rare disease patient organizations before. Batten Disease (Beyond Batten Disease Foundation funded $35M research), Angelman Syndrome (Fast Foundation funded $26M research), SMA (Cure SMA funded $35M research), all funded successful research and managed to reach clinical trial level.

Sorry about the extra-long intro, but I wanted to provide context for this relatively “new” genetic disease which is hardly known. Since HN has members with extensive digital marketing experience, I’m hoping you would share your ideas with us. Long story short, if we can manage to raise several million to kickstart multiple types of research in parallel, then we can offer these kids a chance.

My first idea is about co-hosting a series of Instagram live streams with celebrities to ask for donations for research. I’m not sure if this is already a solid fundraising technique? Also, I don’t know the first thing about finding celebrities as well.

A second idea is, recording a youtube video and promoting it using google ads grants.

At this point, we want to leave no stone unturned about fundraising.

So here we are. Any advice would be greatly appreciated.

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user:	valdagger
created:	June 12, 2020
karma:	63