Early Years, Lifestyle

A Loving Tribute

Tonight the cystinosis community is paying tribute to three young adults who passed away this past week with a worldwide candle lighting ceremony. We've only been a part of this community for about two years but more losses have been felt than I expected for such a rare disease. Although I have not known any… Continue reading A Loving Tribute

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Early Years, Lifestyle

Is it Terminal?

Not long ago cystinosis was most definitely a terminal disease. Even up until the early 90's parents whose children were just diagnosed were told their child would likely not live past 10 years old. But with the introduction of Cysteamine treatment (now a days Cystagon and Procysbi) people with cystinosis are living longer than ever!… Continue reading Is it Terminal?

Early Years, Lifestyle

Preventative Bed Wetting Measures

Almost every person with cystinosis also has Fanconi's Syndrome (early diagnosis helps!), which causes, among other things, excessive urination. There's a great diagram in Jessica Jondle's book Roller Skating with Rickets (originally appeared in the Parent's Guide to Cystinosis) that depicts the kidneys as big water jugs missing a valve, where the cystinosis jugs are constantly emptying no matter… Continue reading Preventative Bed Wetting Measures

Early Years

Genetic Testing

I'm slowly learning that just about everything related to a rare disease is more complicated than it should be, certainly more complicated than it would be if Elsie had a more common disease. Mostly it's been the struggles we had with getting her medications and coverage approval from our insurance company that caused the most… Continue reading Genetic Testing

Fun Stuff, Lifestyle

Roller Skating with Rickets

Recently I finished reading the excellent book Roller Skating with Rickets by Jessica Jondle, a woman in her thirties living with cystinosis. It recounts her life with the disease, her struggles, many accomplishments and unwavering determination to not let cystinosis define who she is or what she can do. As soon as I heard about this book… Continue reading Roller Skating with Rickets

Early Years, Fun Stuff, Medication / Medical Aides

Step Up

This Mother's Day we wanted to do something really special for Elsie's grandmas because they have been two of the most amazingly supportive, understanding and loving women not only throughout Dave and I's lives but also through this period of transition as we adjust to life with cystinosis. Although a gift can never really honour… Continue reading Step Up

Early Years, Medication / Medical Aides

The Importance of a Second Opinion

After the whole NG tube business I had written an email to our renal clinic nurse saying that we were sick of not being listened to and in the future we needed to be better informed about why these decisions were being made. After some back and forth between us we had sorted everything out.… Continue reading The Importance of a Second Opinion