Our Katie was born in October 1990. A slight fever after birth kept her in the hospital an extra day, but for the most part she was a healthy 8 lb 6 oz baby. She was a great eater from the start and by 4 months was over 19 lbs. The first 3 years of her life were pretty much uneventful as far as her health was concerned.
Shortly after she turned 3 though, we noticed that she started to drink an incredible amount of water. We remember waking up in the middle of the night and seeing Katie sneaking into our room to get a drink of water. Her appetite also seemed to decrease quite a bit about this same time. We had her checked for Diabetes, but all was good there. Still she was healthy by most standards and we were relieved she wasn't diabetic.
When she was 4 years old we moved from Maine to Florida. By this time Katie had a new baby brother. When we got to Florida, Katie's health started to deteriorate. It was so minor at first, we didn't think much about it. But, looking back, we realize they all point to Cystinosis. She had a few episodes of muscle cramps, but that seemed normal for a growing child. She also vomited occasionally which we chalked up to the "flu bug." Our real crisis hit over Christmas that first year in Florida.
She got the flu pretty bad and wouldn't eat or drink. We took her to the emergency room and they put an IV in and rehydrated her then sent us home without doing any blood work-up. She bounced back, but not 100%. She continued to drink a lot of fluids, but now wanted ice in everything she drank.
In March of 1995 she got the flu again on a Friday and we kept her home until we could see a pediatrician on Monday morning. They did a blood chemistry level on her and found her Potassium level to be 2.1. She was in renal failure and her entire chemistry was out of sorts. They put her in the Intensive Care Unit and started testing to figure out what was wrong. The pediatrician at the hospital could not figure out the problem and Katie was transferred by ambulance to the University of Florida in Gainesville. During an eye exam, the ophthalmologist noticed crystals in her eyes and they had the diagnosis.
We were so relieved we had a diagnosis, not even realizing exactly what it meant. We went to the medical school library and did some research. What we read was really shocking. Katie's nephrologist came in to talk to us and explain in more detail and noted that there had been a lot more improvements in the treatent of Cystinosis since the information we had read was written. We brought her home thankful she was alive but not realizing the work that lay ahead of us. Medicine time is no picnic. Over the first year Cystagon would come up more often than not. We became experts at cleaning up vomit. It felt like we were living from one dose of medicine to the next. It was stressful on all of us.
Katie was hospitalized off and on the first year, mainly when she caught the flu and couldn't keep her meds down. Katie began kindergarten a year and a half after her diagnosis. About half way through the year, the teacher told us she thought Katie might be learning disabled. The Nephrologist had said that many children with Cystinosis do have problems learning. After her kindergarten year, we got transferred to Pennsylvania and Katie started kindergarten all over again. Just prior to the move up north, Katie developed a new problem of blood in her stool. We had this checked out and she was diagnosed with Ulcerative Colitis. The nephrologist and gastroenterologist both said they didn't think there was any connection between the two disorders.
Last May her abdominal cramps and bleeding returned and she was hospitalized for 10 days. She is currently on prednisone (steroid) and pentasa for ulcerative colitis along with Cystagon and other meds for Cystinosis.
That's Katie's history in a nutshell. Although she has Cystinosis, it is not the most serious of the two problems. Through all the needles, tests and meds, Katie has been cheerful, giving and a pure joy to us and many others. She is in first grade and doing well. To look at her, you would probably never guess that she has either problem. She takes her meds well, eats well, and does everything other 8 year old girls do. We could not be more proud of her and how well she has been handling the cards dealt to her.
Cystinosis Central | Patients