About a week and a half ago Elsie and I attended the Cystinosis Research Foundation‘s Day of Hope family conference and it was amazing! It’s a yearly conference that the CRF holds in Newport Beach where families, doctors and researchers come together and get to know one another, share their wisdom, and learn about all of the exciting things happening thanks to the CRF. Our family attended this conference back in 2014 shortly after Elsie was first diagnosed (you can read my blog about it here) and I left there feeling so much hope for Elsie’s future that I knew this was something I wanted to attend regularly.
But with Linden’s birth the following year and the financial demands of two children, and one with a lot of expensive medications we were unfortunately not able to attend the next two years. This year, however, I was determined to go and even though we could only afford to fly Elsie and I down, it was still well worth it!
Over the years I’ve gotten to know a lot of the families living with cystinosis online quite well but most of them I’d never met in person and finally meeting many of them was incredible. Often times when you’re dealing with a rare disease you feel like no one around you truly understands what you go through. Not even our closest family members that help look after Elsie and Linden really know what it’s like. But these other families do. They know 100% exactly how you feel and exactly what you’re going through. I don’t think I can even properly express how nice it is to feel truly understood. And giving Elsie the opportunity to meet children that go through the same things as her is one of the greatest gifts I can think to give her.
The conference took place over 3 days, with family introductions on Thursday evening, talks all day Friday and half of Saturday and ended with the big fundraising dinner, Natalie’s Wish, on Saturday night. During the conference day care was provided for all of the children and Elsie was old enough this year that I didn’t feel guilty leaving her in a room full of children, games, crafts and lovely caregivers to play with. I’m not sure how much she actually mingled with the other children though as I’ve noticed she tends to gravitate towards adults rather than other children. But she definitely made some friends during the family dinners on Thursday and Friday night. The families also ate together for breakfast and lunch on Friday and Saturday and she was always looking out for her friends to sit with it.
I was excited that she spent most of her time in day care as it gave me a chance to take part in all of the talks through out the conference. The first year we went I felt like I didn’t get to take it all in but this year I definitely did! It was a lot of information and if you’d like to know everything that was discussed I highly recommend you check out this post from the blog Sam and Lars. Dr Stephen Jenkin’s does a much better round up of the talks than I could do.
The highlights I took from the talks were:
- The cysteamine nanowafer developed by Dr. Ghanashyam Acharya with Dr. Jennifer Simpson which is a sort of dissolving contact lense that gradually releases cysteamine in the eye and will hopefully replace the hourly eye drops currently used to treat corneal cystinosis is close to getting approval from the FDA to begin a clinical trial. In fact they are meeting with the FDA at the end of this month!
- Another research team led by Dr. Morgan Fedorchak are working on a cysteamine hydrogel which would also gradually release cysteamine onto the eye and replace the hourly eye drops. She originally developed this hydrogel as a way to treat glaucoma and her team is now working on applying it to cystinosis.
- Dr. Patrice Rioux and Dr. Vincent Stanton from Thiogenesis Therapeutics are working on different pro-drugs that could hopefully reduce the side effects like nausea and vomiting associated with Cystagon and Procysbi. As I understood it they are combining cysteamine with different compounds to allow the drug to be broken down and absorbed in the body slower and further down the digestive tract which might also allow a longer time between doses. It sounded like they were in the beginnings of these tests and a clinical trial would still be a few years away.
- Dr Paul Grimm did two very informative talks, one on managing the complications of cystinosis and another on how siblings cope with cystinosis. To be honest the how siblings cope part made me cry. I worry a lot about how cystinosis will affect Linden and Dr. Grimm had a list about how many siblings tend to hide or minimize their own pain, take on a care giving role too early, experience depression and feel invisible. He said that what siblings need is attention, reassurance, communication and family humour. Below are a couple pictures I took from his slideshow (note there wasn’t any specific data on siblings of children with cystinosis so he talked about a study from siblings of children with cancer)
- And the big one was Dr Stephanie Cherqui’s talk on what the upcoming clinical trial, on what we’re all hoping will be a cure for cystinosis, will look like. And let me tell you it is intense! This is something that I probably should have realized from the beginning but to have her lay out all of the steps involved was eye opening, super informative and a little bit intimidating. They will be starting the trial with 2 adults over the age of 18 and if all goes well they will do two more patients over the age of 14. These individuals will go through rigorous testing so they have a baseline to compare where they were before the stem cell transplant to where they are after. They will also need to stay in San Diego, where the trial will take place, for 3 to 4 months afterwards for weekly testing. Below are some pictures another parent took of her slideshow
She is hoping to apply for an IND (Investigational New Drug Application) to the FDA this year and will hopefully begin the first clinical trial shortly after that!
Near the end of the conference there was an adults with cystinosis panel where we were able to ask questions from the real experts of cystinosis, those who have been living with it all their lives. One question that was asked was, “how do you feel about a cure for cystinosis possibly on the horizon?” and I was a little surprised by most of their responses. One person summed it up perfectly as cautiously optimistic, which I think is how most of us feel, but more than that I sensed a general hesitation from the group. Then a woman made a comment that really stuck with me. She said that she didn’t know who she was without cystinosis. It was a part of her, who she was and she had trouble imagining her life without it. This sentiment brought me to tears and I had a hard time figuring out why until I realized that it was a mix of awe and admiration.
Us parents look at cystinosis as a burden. We see it as an awful disease that’s attacking our children’s bodies and stealing their care free, innocent childhood from them. It’s not often that we stop and see what cystinosis might mean to our children. Elsie has been talking a lot lately to people about the things she does. Just today at the park she told a parent she’d never met before that she recently had some IV’s put in and how they couldn’t get one in which really hurt, but it’s okay now because she’s getting an American Girl doll (it’s long story that I’ll post to instagram shortly). She went on to tell him how she takes medicine and special milk to keep her healthy and that she’s good at taking care of herself. I could see how proud she was about this fact and that she felt special for having to do these things. And while I’m aware that she may not feel like this forever it did remind me of the woman at the conference. Most people with cystinosis that I’ve met have been incredibly kind and sweet but you catch glimpses of their strength and resilience the more you speak with them.
Saturday night was the big Natalie’s Wish gala and as always it was amazing. The food, decor, entertainment and company were all incredible and I was so happy that my good friend, Nina, was able to join me. The video at the beginning of this post was played and a mother of two boys with cystinosis, Ashton Jenkin’s, did a touching speech on their journey with cystinosis. And an astounding $3.5 million was raised for cystinosis research! The kindness and generosity from all those that attended this event blew me away and I feel very fortunate to have been there to see it.
I should also mention that Horizon Pharma held an informal meeting for conference attendee’s who did not live in the United States. Horizon recently acquired Raptor, the makers of Procysbi, and wanted to give us an update on what they’re doing to try get approval in our respective countries. There were quite a few Canadian families in attendance so we split from the rest of the group to get info specific to Canada.
Procysbi has been submitted to Health Canada for approval and they are hoping to receive an answer by this summer (this is only a hope though, not a guarantee). There are several regulatory bodies that will need to analyze Proysbi once approval is granted before it will be available to consumers and they estimate it will take roughly a year from Health Canada approval before it is commercially available in all provinces. When asked to comment on the price it might be we didn’t get a straight answer. Just that it would probably be similar to European prices, though he didn’t even know what that number was. Regardless every province has their own pharmaceutical systems in place. Here in BC we have Fair PharmaCare so the price doesn’t concern me much as we only pay up to a certain amount per year and then the province pays for the rest. Horizon would like to keep us updated on this approval process as it goes on so if you’re Canadian I highly recommend you join the Cystinosis Family Canada – Famille cystinose Canada Facebook group as updates will most likely come through there via the Cystinosis Awareness and Research Effort. They also said that Canadian’s who were a part of the clinical trial for Procysbi will still have it supplied to them compassionately until it is commercially available.
I have to say that attending this year’s Day of Hope conference was everything that I hoped it would be. I laughed, cried, made new friends, spent some quality time with Elsie and learned a LOT! I could write more on the subject but this post is getting long enough as it is, so if you have questions about the conference or there’s something I’ve written that you want elaborated on please let me know and I’ll be happy to add.
I said this after our last conference but I would really love to make this an annual trip that ideally our whole family attends. I’d also love to bring the grandparents with us as there were quite a few in attendance and I’m sure they would get a lot out of the talks and meeting other grandparents as well. I can’t thank the Stack Family and the Cystinosis Research Foundation enough for putting on such a wonderful, heart warming, hope inspiring event. The future is looking brighter and brighter every year!
Elsinosis: Living with Cystinosis 