Category: School Years

Late Night Worries

November 26, 2019November 26, 2019 Amanda

I’ve been meaning to write a post for ages about all the things that have been going really good for Elsie and our family lately, BUT I’m finding that it’s much easier for me to write when they’re not. I’m actually developing a reputation at work for being someone who talks about all the reasons… Continue reading Late Night Worries

Tagged cystinosis, fears, late nights, worriesLeave a comment

Intro

Hi my name is Amanda and my daughter, Elsie, has cystinosis - a rare, genetic, metabolic disease. Right away I found all the facts about cystinosis and its treatment overwhelming. What I really wanted to know was if my little girl was going to be okay. Could she still have a happy, normal life? The answer is absolutely!

I've created this blog so that other families affected by cystinosis can follow our journey through this disease, learn what life is going to be like and how one happy, amazing little girl makes it through.

Above all else just know that there is hope, you're not alone and your life can still be filled with love and laughter.

Instagram

So after months of nothing I finally posted a new blog post. We all have rough nights and sometimes you just gotta write about it. You can find it at elsinosis.com ❤️

Had a great day at the pumpkin patch this weekend. Even if they’re making goofy faces! 🎃 📷 by @royalcitydave (except for the one he’s in of course)

When Elsie was diagnosed over 6 years ago they had just cured cystinosis in the mouse model. It seemed like a far away dream. Something I didn’t even let myself consider as an option in those early days where every single minute was a struggle just to keep our heads above water (though most days it felt like we drowned). And now today there’s this. I feel like I want to cheer and scream and bite my nails down to the nub but more than anything I’m so incredibly grateful. Grateful to the Cystinosis Research Foundation, grateful to all the families who tirelessly fundraise, grateful to Dr Cherqui and her dedicated team and so very, very, very grateful to this brave soul and his family. This could be the beginning of so many good things. It could change our lives and so many others and holy sh*t how exciting is that? ...... Reposted from @cystinosisresearchfoundation • Yesterday was a day that will forever be remembered as a historic day for those affected by cysintosis. It's a day that could very well mark the beginning of a world without cystinosis. Yesterday, Jordan Janz was the first patient to undergo gene therapy. The treatment, developed by Stéphanie Cherqui, PhD at UC San Diego, was FDA approved last year and CRF is proud to have supported her groundbreaking research since 2007. Thanks to the dedication and generosity of our CRF friends and family from around the globe, CRF has funded over $5.4 million in grants to Dr. Cherqui. Jordan is a true pioneer in our community, and we are incredibly grateful to him for his courage to be the first cystinosis patient to undergo the treatment and to pave the way for all future cystinosis patients. We are all thankful to Jordan and his family for their gift of hope and promise to our community. We still have many months to wait before we know if it will be a lasting cure, but we are more hopeful and optimistic than ever that it will be! Together, we shine bright!

Truthfully I hate matchy matchy. I’ll even make my family change clothes if we’re in the same colours, but sooner than I’m ready there’ll be a time when Elsie wants to be nothing like me so for now I should just be grateful that she still thinks I’m cool. And when the matching gear comes from @nevergiveuporg I think I can make an exception 😊

How’s your day going so far? I woke up today to news that the @cystinosisresearchfoundation funded stem cell and gene therapy clinical trial is officially underway so I’m doing awesome!

When your work supports you and your endeavours it’s literally the best feeling. They’ve been so amazing right from the beginning. Always listening to my complaints, visiting us when Elsie was in the hospital, trying their hardest to find a health plan that’ll cover Elsie’s medications and now buying 20 copies of the anthology @amandaleighya and I put together to include in our waiting rooms and in Christmas gifts baskets. I’ve said it before, but we’re really just so lucky to have so many incredible people in our lives and everyone at PhysioWorks is right up there 💚💚💚

She looks so big here 😭

Tonight, before bed, I’m making Elsie’s medication. One of eight that she takes every single day. One that Dave or I have made every night since she was diagnosed 6 years ago. Tonight I will wake up at 1:30 in the morning and give her this medication. Just as Dave or I have done every night and then we will wake up 6 hours later to give it to her again. Every day. Every night. But you know what? These pills, and all of her other medications, keep her healthy. They allow her to play with her friends, to go to school, and live a life like any other. So Dave and I will continue to make her medications. We’ll continue to wake to alarms every night and every morning. We’ll continue to take her for blood draws and doctors visits and rely on the support of our incredible friends and family who care for Elsie as much as we do because she is ours to care for. Because we love her. And because she is so very, very worth it.

Donate

Because cystinosis affects only an estimated 2,000 people worldwide there is no government funding for research towards better treatments and hopefully one day a cure.

The Cystinosis Research Foundation commits 100% of your donation to issues grants for bench and clinical research studies in order to accelerate research progress and ensure that cystinosis research is on-going.

Click on the logo to donate today

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