A “Rare bond”: Connecting with Cystinosis

BY SHIRLEY DICKS & TORI WESTFALL

SHIRLEY & ELEANOR 

After two frustrating years of tirelessly working with our GI team at our local pediatric hospital, we had zero medical explanations of why our three-year-old daughter Eleanor (Elle) was constantly throwing up.  She had no appetite, was excessively winded, and had an aversion to sunlight and bright lights.  Our daughter was not growing, so we chose to see an endocrinologist who specializes in pediatric growth disorders. After reviewing her labs and discussing Elle’s presenting symptoms, he had an unofficial diagnosis.  On October 10th, 2018, Eleanor was diagnosed with cystinosis.  Being without treatment and therapies for so long had left Eleanor in stage 3 kidney failure.  All of this news came as I was 20 weeks pregnant with our second child.  We were then met with the realization that this disease was genetic, with a 25% chance of our unborn child presenting just like Elle did.  The waking hours of life at home were filled to the brim with appointments and around-the-clock medications.  Things were hard, and I was exhausted.  Family and friends were there to provide hugs, meals, and encouragement, but no one truly “got” what raising a child with a rare disease actually entailed from one uncertain day to the next.

Life after receiving a rare diagnosis felt like trying to keep our heads above an ever-rising current. Some days felt like smooth sailing, while on other days, we barely took a breath. It takes time to get into the “new normal.” I am grateful for finding our second family in the Cystinosis Research Network.  There is a community of rare families and other moms like me who are going through similar experiences and can intimately relate. 

We are year three post-diagnosis, and I can say we finally have our heads out of the muddy water for now.  I’m forever grateful for the rare mamas that helped me get through those days when it felt like we were just sinking; without them, we might still be stuck. I was able to connect with Tori, whose daughter has cystinosis after she posted about their struggles with medications and the same cyclical vomiting that Elle had once suffered from.  She was up to her ears in the muck, right where we were three years ago, and we knew we could offer a rescue line to help pull her out. 

TORI & ADDYSON 

My three-year-old daughter, Addyson, was diagnosed with cystinosis, Fanconi Syndrome, and Kidney Disease on May 10th, 2021. Since birth, I was concerned about Addyson’s acid reflux and constant spitting up, but after the age of one, she stopped growing and gaining weight. Her pediatrician at the time showed no concern.

After three months of no improvement or weight gain, I switched treatment teams. Addyson had no improvement after three more months, but the team saw no other sign of concern. They referred us to an Endocrinologist. From there, we were referred to Nephrology. Thankfully the Nephrologist was familiar with Fanconi Syndrome and cystinosis, recognizing it immediately from the initial blood work. Addyson was hospitalized and had a g-tube placed for the administration of her many medicines and nutrition. A few days following, the WBC level results confirmed cystinosis. Since then, Addyson has been admitted to the hospital three separate times this year and has had over 20 doctor appointments.

There are times other cystinosis mamas know what is going on with my child before the doctors do. Shirley introduced me to the idea of using a combined GJ-tube over her current G-tube only. She also expressed that Addysons’ symptoms closely mimicked Elle’s battle with Gastroparesis (Delayed Gastric Emptying). I shared my concerns with our treatment team, revealing a positive diagnosis of Gastroparesis for which she is now being treated.  A second rare mom helped facilitate connection with a specialty compounding pharmacy service, which has saved me countless hours of drive time monthly. The support, caring, and understanding are unmatched in the cystinosis community.

It is so important for rare mothers to connect with others for knowledge, encouragement, and support through such unknown and uncommon circumstances. Even the doctors familiar with cystinosis struggle because each patient presents with such a variance in symptoms and barriers. When you have a child with a rare disease, it is very lonely and isolating at times because your friends, family, and peers will never fully understand.  What I have come to realize is that, in fact, there are many mothers who have been where I am, ready to help at a moment’s notice; I just had to reach out.  

No matter what path we go down with this disease, we are better together than apart.

If you are a cystinosis caregiver looking for support, we recommend:

Guest post by Shirley Dicks, Rare Mama to Eleanor and Tori Westfall, Rare Mama to Addyson


https://cystinosis.org/