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?
Every two years the Cystinosis Research Network holds a family conference where families can get together for a few days, attend the many information sessions by leading experts in cystinosis patient care and children, teens and adults alike can have some fun. Sadly we have not had a chance to attend one of these conferences… Continue reading Dream, Achieve, Inspire
Recently a family in the cystinosis community made a shocking and upsetting discovery this past week in something that I'm assuming was meant to be a light hearted gift. We've all seen those bathroom books before, usually full of strange, little known facts meant to elicit a few chuckles. So when I saw a picture… Continue reading My Daughter’s Disease is Not Useless Information
So it's been awhile since I posted an update on Elsie and that's mainly because she's been doing really well! Her weight and height have been following the growth curve at about the 15th percentile which is awesome. And for the most part her levels have been really good with the exception of her potassium… Continue reading How Things Are Going
That beautiful girl in the poster is Abbi, a fun loving soon to be 9 year old living with cystinosis. April 13th is her birthday and to celebrate for the past few years her school has done Sunglass Day, where kids could wear their sunglasses to school in honour of Abbi for a small donation,… Continue reading Cystinosis Sunglass Day
This past week Elsie became a big sister to her little brother Linden. Linden came early and unexpectedly (born at 36 1/2 weeks) but he is doing well and we are all so in love with him. Above is a picture of Elsie meeting him for the first time. The way she is with… Continue reading Welcome Baby Linden
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 love photos, especially family photos. I am probably one of those parents you see at the playground taking a million pictures of their kid with their phone and you think to yourself "why can't they just enjoy the moment?" But I can't help myself, to me Elsie is the most adorable thing on the… Continue reading Our Tiny Light
For the most part I try to keep this blog as positive as possible, because even though cystinosis is a scary, lifelong disease it can be mostly managed by medications and I know that Elsie can still live a long, beautiful and fulfilling life. But sometimes I worry that I'm not accurately portraying the seriousness… Continue reading The Dark Moments
Hello, I am baby number 2 and I do not have cystinosis!!!