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
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?
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
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
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
My little girl is now 2 years old! I can't believe how fast time is going, it feels like only yesterday Dave and I found out we were pregnant. I still remember the fear I felt on our first car ride home from the hospital. Does everyone in this city drive like a lunatic? Don't… Continue reading She’s 2!
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
I am not a gambler. Dave and I have a one in four chance that our children will have cystinosis and this fact has been weighing on me ever since Elsie's diagnosis. We've always planned on having two children but we've really been struggling with the idea of bringing another child into the world knowing… Continue reading One in Four
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
Our family saga with the NG tube is at an end. It was only in for a week but it felt like years and I have to say it was the most trying thing we've been through during this whole cystinosis thing. The insertion of the tube went pretty much as we thought. They swaddled… Continue reading And the NG Tube is Out