Our first child Sierra, was born in June of 2022 and by all accounts she was a typically developing little girl. She was born full term, 7lb 7oz, 21 inches, and passed all initial screenings. We had no reason to believe there was anything atypical in her development. We were sent home and ready to start our new adventure together as a family of three.

Things started to change at about 9-12 months, where we noticed she started developing feeding difficulty, either refusing food/milk or eating and throwing up daily. She was referred to a GI specialist at Children’s Hospital in Washington, D.C., thinking maybe it was a GI issue. Lab workup revealed Sierra had Stage 3 CKD. She was directly admitted to the hospital for a full workup. As first-time parents, we were terrified. We knew something was wrong, but when every physician told you it’s normal, saying “she’s just a picky eater,” you start to believe them. We remember sitting with her, meals taking 3-4 hours to eat a TBSP of yogurt. We tried everything we could think of: a high chair, sitting on the ground or on the couch, with lights on and off, with and without music, with and without TV, with and without distractions, eating with family, eating with one parent, with different textures and temperatures – everything.

We spent two weeks in the hospital learning everything Sierra didn’t have and finding very few answers as to why she was categorized as failure to thrive. We met with every discipline, and finally, nephrology had an answer: Cystinosis. We could feel the tension as we sat in a family support room, surrounded by every member of the care team, from medical students to social workers. We were advised that our daughter had a rare disease that affects approximately only 2000 people worldwide. We were told our journey would be difficult; her quality of life would be poor, needing hourly medications, would likely need a kidney transplant in her early teens, and would have a shorter life span than her peers without the disease. We had no words. We felt isolated and alone and had all these emotions with few people who truly knew how we felt.

It has been 18 months since Sierra’s diagnosis. While there are still challenges, life has gotten immensely better for Sierra and dealing with the disease. The medicines become routine, and her energy levels are the same as a normal toddler. We know there will be new challenges in the future, but we are fortunate for every day we have with Sierra and know she will be able to handle anything new, like when she first did 18 months ago.

We are different people than we were a year ago. We are at a point where Sierra is thriving. She happily takes her medicine and eye drops and talks about becoming a doctor one day. A year ago, we never thought this would be possible. We couldn’t leave the house because she would vomit daily, sometimes multiple times a day. We had to cancel plans and decline party invitations because each day was a toss-up on whether she would be sick or not. Now we are at a point of stability. We see her personality shine, she’s goofy and playful and has a way with words.

We are thankful for the entire CRF community, as these were some of the first people we were connected with post-diagnosis, and reading children’s stories like this one in the CRF magazine. For new parents with children with cystinosis, it may seem hard to believe (as it was with us), but things do get better.

Thank you for your love and support,
Mariah, Ryan, and Sierra 
The Hub Family