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Elsinosis: Living with Cystinosis

Elsinosis: Living with Cystinosis

A real life account of beautiful Elsie and how she lives with cystinosis

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Tag: NIH

Early Years, Lifestyle, Medication / Medical Aides

The Year Ahead

January 30, 2017April 17, 2017 Amanda

At the end of this last year in November we were fortunate enough to have an appointment with a biochemical disease doctor, Dr Galina Nesterova, who just so happens to have a lot of experience treating people with cystinosis. It was so amazing to finally be able to talk with an expert in the field… Continue reading The Year Ahead

Tagged cystinosis, medication, NIHLeave 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

Today is rare disease day and this little lady is just one of millions of people out there living with a rare disease. She’s strong, resilient, and currently a giant pain in the ass who knows what she wants and will not compromise for anyone. And we love her. Always and unconditionally. I wish life were easier for her, but I think she’s doing great as is. We love you Elsie. So very much πŸ’–
I hope everyone had a safe and Happy Halloween πŸŽƒ
Just look at all that third grade attitude! Don’t know where she gets it from 🀫
So apparently I am now the mother of an 8-year-old wizard. Where has the time gone 😩πŸ₯³
She really is magical ✨
Picking strawberries πŸ“πŸŒž #strawberryseason
Someone wanted to do her hair for a friends zoom party today 😍 My sister is an amazing hair and makeup artist and has been posting these great tutorials on @kerrywaring so obviously we had to try. And really who can say no to this face? πŸ’•βœ¨ #lovehertothemoonandback
Today, May 7th, is cystinosis awareness day! Named after the 57 kb deletion, one of the most common genetic mutations responsible for cystinosis, this day is a time for us to raise awareness for this rare, genetic, metabolic disease.

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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