The Science of Joy:31

Xtreme Science mode is happening! One of my scientific advisors and good friends, Dr. Leylah Zeek, is attending the NORD conference in DC with me right now. NORD is the National Organization for Rare Disorders. This meeting is the Breakthrough Summit on Orphan Products for Rare Diseases. There are nearly 600 attendees representing patient advocacy groups, industry, academia, big pharma, FDA, NIH, and investors. 


We have been able to hear stories of parents like me who started a foundation and research for their children’s Rare conditions. We have been hearing some of the newest hopes in gene editing and therapies. We have met some amazing people, some with incredible hope and some with frustrations and challenges only some cooperative like this could help address. 

We are encouraged by how far Xtraordinary Joy has come in these last 4 months (the short life of our foundation). And our eyes are open to some of the challenges we may encounter in our future. My approach will not change. We are still going to forge ahead always. And move at the pace needed to gain understanding and therapies for our Moriah Joy and others with her deletion. And in the future…other deletions and rare disorders. In fact I just strolled the large room of posters presenting data collected by various rare disorder groups. I took photos and notes on how others on this path are making progress and reporting their plans and data. There are so many on this journey. 

I can really see us having a poster and oral presentation next year on research advances we have in the works in the coming months. And we are focusing on establishing relationships with some of the organizations here, because this time next year we expect to be in a completely different phase of our work. Data analysis and expansion. The neuroscientists and cellular reprogramming specialist we have on our scientific team believe this work will be successful and beyond that will establish a model of personalized medicine that will help many with rare chromosome disorders, other kids with autism and intellectual disability and epilepsy. 

We can see how important it is to have funding. Kristen Gray, mother and founder of Charlotte and Gwenyth Gray Foundation, opened the summit yesterday morning to share her quick journey. I say quick because she pushed for diagnosis and then research in a field where there was no cure and she would not accept that fate for her daughters. With some celebrity sponsors and amazing friends they were able to raise millions in their first year which ultimately put them on a fast track enabling their daughter to be the first to receive a new therapy for her rare deadly diagnosis–Batten Disease. Amazing!!! 

Celebrity sponsors or sponsorship period is not easy to get. But grants are less available for us. We suspect we will be able to apply for some grants next year, once we have some data. For now we see how much our fundraising efforts are needed. 

Please join our fundraising efforts. You can donate or purchase tickets to our gala which is in TWO weeks. Or maybe you can sponsor us or donate some items that will motivate others to give. Maybe your gifts would be to volunteer your time and talents (for example: provide some marketing, public relations communications, or administrative assistance). I need help and have several areas to address to help us as we grow. The theme here at NORD is “Alone we are rare–Together we are strong!” Thank you for being in this with us Together!

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