Early #proteinuria (protein in urine) is often a first sign of kidney involvement in cystinosis. (Orphanet Journal of Rare Diseases, 🔗 in bio0
We had to put a urine sample collection bag on Oliver at 12mo old to test what was going on, anyone else had to do that with a little one? #ShareYourRare
Oliver will add more specialists as he grows. 🧠 Neurology is one we've had a hard time with. They can see him Wed, but we have appointments only on Thurs right now, to keep a routine and align with 🫘 nephrology clinic days. How do you handle appointment wrangling for your kiddo? #ShareYourRare
#ShareYourRare We often use analogies: "leaky bucket" kidneys, or "Oliver's cells don't take out the trash". Though these are non-scientific it can be helpful to introduce complex issues to those who want to understand. What are your go-to's when explaining what your #RareDiseaseWarrior faces?
The infantile form of #Cystinosis makes up 95% of cases. It usually leads to kidney/ growth problems. (Orphanet Journal of Rare Diseases, 🔗 in bio) We monitor Oliver's feed volumes & growth progress VERY closely as a result.
How does your #gtube kiddo do with weigh ins and labs? #ShareYourRare
There are 3 types of cystinosis: Oliver has #InfantileCystinosis (most common/severe). Juvenile (is milder), and Ocular (mainly affects eyes). 👁️ Source: Orphanet Journal of Rare Diseases, 🔗 in bio.
We want to hear from you– comment below about how rare disease has touched your life. #ShareYourRare
Cystinosis is a #RareGeneticDisorder where cystine builds up in cells, damaging organs like kidneys, eyes, and more. Did you know it’s the top inherited cause of Fanconi syndrome in kids? (Orphanet Journal of Rare Diseases, 🔗 in bio)
We call this Oilver's "bum kidneys"💡Comment to #ShareYourRare
