Cystinosis Parent Handbook Final - Cystinosis Research Network

on the weekends and many play dates with friends. She eatsnormally at every meal with no side effects from any of hermedications. Occasionally she will vomit in the morningswhen her pills go in on an empty stomach, but those timesare few and far between now. We are thankful for that. Sheis growing well on the hormone shots (12 inches in the lastcouple years). She has now reached the average height ofgirls her age. We know that a kidney transplant is in her future,but for now her kidney function is roughly 66%. She sees hernephrologist and ophthalmologist every 3 – 4 months.Living with Cystinosis:Sara’s StoryOn June 22, 2005 Sarahentered the world as a perfect,chubby, “normal” baby.She was the largest of ourfour children, full term, andthe result of a thankfullyuneventful pregnancy.At 12 months of age, Sarahstopped growing, eatingwell, and sleeping well. At 13months of age, she beganfrequent vomiting, extremethirst for water only, and very heavy urination. Frequent tripsto the doctor resulted in disappointment and frustration.“She is just small.” “She is lactose intolerant.” “She is a pickyeater.” At 14 months of age, Sarah vomited twice and wastotally dehydrated and the doctor was “too busy to seeher today”. Right then I got a new pediatrician. Sarah wasadmitted to the hospital for fluids and many tests. Within24 hours, blood work identified renal tubular acidosis: amalfunction of the kidneys caused by Fanconi’s syndrome.A pediatric nephrologist was called to see our tiny, very sickchild. He sat us down and explained that he thought Sarahhad cystinosis, which was causing the Fanconi’s syndrome.We were devastated but determined to fight to save ourdaughter. The test for cystinosis took two weeks to bedelivered to the hospital. Blood was drawn and sent backto the lab in California. After two more agonizing weeks,cystinosis was confirmed.Sarah quickly encountered many challenges in the process oftrying to stabilize. She had rickets, failure to thrive and cystinecrystals in the corneas of her eyes. She needed physical,occupational, and speech and development therapy to helpher catch up. By 18 months of age she had a G-tube andwas taking medicine around the clock. Blood draws becameroutine. We had doctor appointments with the pediatrician,nephrologist, dietician, ophthalmologist, surgeon, andendocrinologist to go along with the weekly therapy sessions.This was a whole new level of busy for our family!Sarah is six years old now and in kindergarten. She lovesschool, has many friends and loves to play dress up andpaint her toes. She rides horses, goes to the beach, andloves everything pink. She also takes 27 pills, one injection,and 14 eye drops a day. She has supplemental feedingsthrough a tube. She has conquered rickets, failure to thrive,and most of the crystals in her eyes. She has graduated fromall the therapies and only has blood work once a month.Sarah is funny, active, smart, and kind. She also is woken upevery night for medicine, is not potty trained at night, doesnot sweat, and rarely picks up her toys! The vomiting hasgreatly decreased and Sarah is growing. She still visits all herdoctors, which now include an ear nose and throat doctorand a gastroenterologist. She thinks of herself as an ordinarykid. We think she is extraordinary.Early adolescence,Ages 12 – 15Younger teenagers (ages 12 - 15) generally have somebehaviors in common [35] , whether they have cystinosis or not.They will likely:• Alternate between acting like a younger child andlike an older teen• Struggle with a sense of identity• Experience moodiness.• Worry about being “normal’• Begin to test rules and limits• Express feelings by actions rather than words• Begin to place more importance on friendship• Pay less attention to parents• Begin to notice and react to peer pressure• Find new people to love and feel physical attraction• Gravitate toward same-sex and mixed-gender groupactivities38Cystinosis Parent Handbook