This video was played during the Night of a Thousands Star’s celebration last Saturday night. It was the perfect way to end the weekend Day of Hope conference put on by the Cystinosis Research Foundation and our family is so happy that we were able to be a part of it. Right away when Elsie was diagnosed some families in the cystinosis community mentioned this conference to me and they all had such positive things to say about it. Initially we weren’t sure we would be able to go due to our financial uncertainty surrounding all these new medications and treatments needed for Elsie, but as I’ve stated before we have amazing family support and when’s Dave’s aunt heard about the conference she quickly offered to assist in getting ourselves down to California. And we are so happy that we took her up on that offer!
Since Elsie’s diagnosis I have to say that this weekend was without a doubt the best thing that has come from her disease. Right away we were pampered with gift bags, complimentary meals throughout the whole conference and free child care. And then there were all the awesome families that we met. The first thing we did Friday morning was introduce ourselves and present our wishes for our children on flower cut outs so they could be added to the Day of Hope tree. Besides a cure for cystinosis almost everyone’s wishes were fairly simple, all we really want is for our children to be happy and live long, fulfilling lives. It was a tearful session but so nice to know that we are not alone in this journey.
And then the talks began. I can not say enough about the brilliant minds that are working on new treatments for cystinosis. There’s Dr Ghanashyam Acharya and Dr Jennifer Simpson who are working together to create a cysteamine nanowafer delivery system for corneal cystinosis. Basically it’s a contact lens of sorts that is put on the eye and will allow for a continuous release of cysteamine for up to 48 hours to help treat the effects of cystine build up on the cornea. What this means is instead of patients having to take the current eye drops once every waking hour they would just have to place the nanowafer on their eyes for however long it will last (he mentioned that they’d like to see if they could get one nanowafer to last for a week). And perhaps the coolest thing about this weekend that got everyone excited was the patch that Dr Acharya is working on which is basically like a nicotine patch that a patient could wear under their clothes and have cysteamine steadily released into their bodies. This would allow patients to stop having to take pills on a regular schedule and also hopefully bypass all of the unpleasant GI problems associated with the current pills.
Another talk that got Dave and I really excited was from Dr Stephanie Cherqui who is about 2 weeks away from starting a clinical trial of autologous stem cell transplantation and gene therapy in the mouse model of cystinosis. What it means is she’s working on taking a patients own stem cells, genetically modifying them to contain the proper genes to transport cystine out of the cells, and then transplanting them back into the patient. Apparently by using a patients own cells it is much safer than introducing someone else’s stem cells, so this would make the gene therapy almost harmless to the patient. Her lab is already working with the FDA to get all the proper test methods in place and if all goes well in this upcoming mouse trial she is hoping to start a human trial in 2 to 3 years which will hopefully cure cystinosis! I’ve probably done a poor job of explaining her work so I would highly recommend you check out this CRF YouTube video of her presentation at last years Day of Hope conference. It’s all very exciting stuff!
There were many more presentations from doctor’s on all different aspects of cystinosis and the effects it can have but if I explained them all this post would go on forever. The cool thing was that the doctor’s who presented at the conference stuck around for the whole weekend. So they were there to answer questions from anybody and just to talk with. On Friday night I was talking with a man at our dinner table whom I’d assumed was a parent or grandparent of someone with cystinosis but when I asked it turned out he was the spouse of Dr Doris Trauner, a woman who has been studying the neurological effects of cystinosis since 1988! Since Elsie is so young we haven’t had any neurological issues come up yet but it was nice just to talk with her and get to know a bit about her story. Dave talked to another doctor, Dr Sergio Catz, who is looking into a compound that may help increase cysteamine’s efficiency. They mostly just talked about the English Premier League though 🙂
To cap off this weekend the CRF hosted the Night of a Thousand Stars celebration. To say that this event was amazing would be an understatement. It is the biggest fundraising event for cystinosis and Dave and I quickly learned why. They started with families in the cystinosis community presenting cheques from the events that they had put on and this accumulated to $600,000 alone! Then it came to the live auction where people were bidding over $10,000 for a case of wine from the Stack families personal collection, so what does Jeff Stack do? Sells two cases each to the highest bidders doubling the amount raised for that one case! After that the Little’s from Ontario gave a beautiful and emotional speech about their lives with cystinosis that had us all in tears. In it they announced that they were grateful for cystinosis because of the community they are now a part of and being able to witness such generosity from people, and I have to say that I fully agree. When the speech was finished it came time to just flat out donate money. They started at $25,000 with a couple people throwing their hands in the air and worked their way down, $20,000, $10,000, $5,000, all the way down to $100 which probably had over 30 hands in the air at that point. By the end of it they had raised almost $2.3 million dollars in that one night!
Back during the weekend opening introductions when it was our turn to speak I ended up blurting something out that I hadn’t really thought about nor intended to say but I’ll say it again now because it’s so true. We could not have asked for a better disease for Elsie. This community is full of the most supportive, generous, friendly and amazing people that Dave and I have ever met. To know that we are all there for each other and on this journey together just means the world to us. This weekend has left Dave and I so full of hope and inspiration for the future of our family and the future of all the families we have met so far. We hope to make the Day of Hope conference a yearly event in the future and thank you so much to the CRF for having us!
9 thoughts on “The CRF Day of Hope Conference”
Thank you for sharing! I love reading each one of your stories. So much great news and I agree with what you said I you speech! Hugs!
Thanks so much Nicole! The CRF also provided us with the contact info of all the doctors present so if you ever want to contact them let me know and I will pass on their info!
Wow! What a great post Amanda. I had tears just reading this. I can only imagine how emotional the weekend was for you and Dave. I am SO hopeful hearing all these new and amazing developments!
Love you guys so much, xoxo
We love you too!
Hi Amanda Dave and Elsie Great to hear how good this little trip was for you all – we are all so glad you went and got lots of great information out of it. Sending you our love always and lots of hugs too xxxxxoooxxxxx
Hi My baby is just diagnozed with this disease.
When i feel down i read this post to charge myself. Thanks for sharing
I’m so glad this post helps you! Where are you from? There are a lot of support groups on Facebook where you can meet parents who have been there before, we are all here to help and support you!
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