On December 29th, 2014 we were blessed with the most amazing little boy, Aarav Khalasi. He quickly began growing and hitting his milestones as most babies do. At about 9 months of age, we began noticing his lack of interest in food and difficulty eating solid foods. Our initial reaction was not to worry and believed he was delayed in reaching this milestone. At the same time, we noticed he wasn’t gaining weight nor did he have any interest in standing or wanting to walk.
We addressed these concerns with his pediatrician during his one-year checkup appointment. The doctor ordered a series of lab tests and blood was drawn on the same day. On the following day, we were asked to come back to have the same lab tests redone and had a new order for x-rays. Before we could get back to our car, we received a call from his pediatrician letting us know Aarav’s electrolytes were extremely low and advised us to have him admitted into the hospital right away.
On our first night in the hospital, his attending physician told us they suspected he may have cystinosis. We had no idea what cystinosis was so we frantically searched the internet for any information we could find. Our hearts were broken as we began to learn more and were not ready to accept cystinosis as a diagnosis and were hopeful for a different outcome. As the days went by, new medications were added, and countless labs were drawn to help balance his electrolytes, cystine levels and personalize his treatment plan. After one month of being in the hospital, the final results came, and our son was officially diagnosed with cystinosis.
During our stay in the hospital, daily lab draws and a crazy medication routine became a part of our new normal. Aarav also had his first surgery to place a gastric tube to assist in pushing more than 20 daily syringes which included medication and extra nutrients as he was not eating enough.
Aarav is closely followed by many specialists and has come a long way. Our family has adapted to this new normal and he has become very accepting of all his medications, eye drops, and labs. We are beyond blessed that throughout all of this our son still smiles and acts like your average 4-year-old boy.
With the help of the Cystinosis Research Foundation (CRF) we are very hopeful that one day we will only read about cystinosis in medical history books.