When our daughter Elle was 10 months old, we started noticing that she had difficulty swallowing and could only eat a few small bites of anything at a given time. We knew something was wrong, but it took us more than 2.5 years of searching and pushing for answers before we received a confirmed diagnosis for Elle.
At 15 months old, when she wasn’t gaining weight between regular pediatrician appointments, Elle began feeding therapy after we requested a referral. We were also referred to a nutritionist, who implied that Elle was just a picky eater, and we needed to ensure she consumed more calories. After being sent home with recipes for thick smoothies, which completely disregarded the fact that we had described Elle’s difficulty swallowing, particularly thick foods, we felt defeated. It was one of the most frustrating and disheartening parts of Elle’s whole journey – we consistently felt like we were the only ones who were really worried about her. We were constantly pushing and asking for more explanations, and we didn’t feel we were truly heard when we were describing Elle’s symptoms.
At 18-months old, she had lost weight and was admitted to the hospital after bloodwork showed severe dehydration. We explained that she was frequently asking for and drinking water, but it appeared that her body wasn’t getting the nutrients or hydration she desperately needed. The doctors immediately gave her a nasogastric (NG) tube to try to get her the nutrition she needed, but every time they pushed a formula through the tube, she threw up. She was experiencing cyclical vomiting, a disorder that causes recurrent episodes of nausea, vomiting and tiredness, and was throwing up 25-40 times per day. Despite feeling like the NG-tube would help, we still didn’t understand what was causing her symptoms and she didn’t seem to be getting better. Eventually, eight months later, she was given a gastric (G) tube to truly ensure she got the nutrition she needed. But we still didn’t have any answers.
When she turned three years old, Elle only weighed 20 pounds. After our gastroenterologist confessed that he felt like he wasn’t making any progress, he recommended that we see a genetics specialist or another endocrinologist. So, we went to work and received a recommendation from a family member for an endocrinologist who specialized in growth issues. It immediately felt different as soon as we walked into the office. He was the first doctor who seemed just as worried and concerned about Elle as we were. During the appointment, we happened to mention that it felt like Elle had a weird aversion to sunlight or bright light, and immediately the endocrinologist’s face fell. He explained that photophobia, or an aversion to light, was one of the key symptoms of a rare, genetic lysosomal storage disease called cystinosis. The signs and symptoms of the condition seemed to fit, so after some additional blood work, Elle was readmitted back to the hospital with a confirmed diagnosis of cystinosis, a rare lysosomal storage disorder that can cause widespread tissue and organ damage.