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

Can’t believe my little man is 5 years old today. Unfortunately with everything going on we can’t give him the birthday party he deserves but he’s got promises to go to the trampoline park as soon as it’s open again and right now he’s busy spending all his minecoins so he’s definitely not complaining! Happy birthday Linden, we love you so much ❤️❤️❤️

Today is Rare Disease Day. A day where we try to bring to light some of the 7,000+ rare diseases that will affect 1 in 20 people at some point in their lives. Over 70% of rare genetic diseases start in childhood and effective treatments exist for only 5%. Funding for research is rare and though we’ve been lucky to be blessed with a community set on finding a cure, cystinosis is not without its struggles. Today I’ll be sharing a typical day in the life of Elsie and our family in my stories as we administer medications throughout the day to keep our daughter the happy, healthy girl you usually see. We hope this insight helps illuminate the estimated 300 million people such as Elsie living their lives to the best of their abilities 💕 For more information about cystinosis please check out the @cystinosisresearchfoundation , and for all rare diseases the @rarediseasedayofficial #rarediseaseday

Yesterday was read your shirt day at school and Elsie chose this one and I’m 😭 It reads: Cystinosis 1) a disease that will make you stronger She’s a strong warrior. It’s in her DNA. She has cystinosis #cystinosiswarrior

Here’s hoping 2020 is as beautiful as the sunset we just witnessed! 🌅 #newyearnewpossibilities

I swear it feels like all you do is blink and suddenly they’re so big. Wishing everyone a happy holidays from my family to you and yours ✨

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!

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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