Here at Patient Worthy, we spill a lot of (virtual) ink talking about all aspects of living with a rare disease.
Our goal is to be supportive and understanding, a (once again, virtual) shoulder to cry on and a one-stop-shop for information, resources, and inspiration. But as much as we can be there for you online, 24-7, at some point everyone living with or caring for someone with a rare disease must face that very non-virtual reality of hearing a diagnosis and realizing that “normal” life has changed forever. There’s no way to predict how those events will play out, no road map directing you what to do or how to feel. It just happens, and in that moment—and all the moments that follow—you need to figure out a way forward.
During these moments of change, it’s critically important to have people around who love you and want to help. Even if they don’t know what to do and you don’t know what you need, their presence and love can offer unexpected relief and an unspoken understanding. Writing in the The Mighty, Amanda Buck recounts the day her daughter Elsie was diagnosed with cystinosis.
Amanda and her husband weren’t too concerned when they went in for Elsie’s one-year-old checkup and learned she hadn’t grown any taller and had lost weight since her six-month checkup, and didn’t think anything was abnormal when the pediatrician sent them for more tests. When Amanda got a call back, she was asked to bring Elsie to the ophthalmology department immediately. At the time, Amanda’s sister was visiting—her sister reveled in her role as “the cool aunt,” and was happy to go with them to the appointment.
At first, Amanda and her husband weren’t sure what to make of the diagnosis, or why Elsie would need eye drops for the rest of her life. They were given little in the way of information about the disease or how serious it was, and on the ride home Amanda struggled to not “freak out.” Perhaps sensing her panic, her sister distracted her with small talk and wouldn’t let her get wrapped up in the what-if’s until they made it home. Once there, Amanda and her husband went online to do some research. As the weight of the situation settled in and they began to panic, Amanda’s sister calmly took Elsie out of the room, playing with her and keeping her happy. And once her daughter was asleep, Amanda collapsed into sobs and her sister wordlessly held her until she calmed down.
These simple acts—keeping a baby’s world happy and normal, offering unconditional hugs and love—may not seem like much to someone who’s never been in that moment. But for Amanda, they were exactly what she needed in that moment—and until you’re in that moment, you just won’t know what you need. So let’s say a big “thank you” to Amanda’s sister and all the other friends and family out there who instinctually know just the right thing to do at just the right time.
Read Amanda’s story on The Mighty, then check out her blog Elsinosis: Living with Cystinosis to follow Elsie’s progress. Have a favorite story to share about how someone was there for you? Share it in the comments below! Don’t forget to share this Cystinosis Awareness Month!