This photo was taken after Luka got a shot of antibiotics after being diagnosed with meningitis at 6 weeks. We were waiting for his first central line placement surgery so that he could get access to intravenous antibiotics as his veins couldn't even hold a peripheral IV due to being over pricked for weeks, weight loss and dehydration. I was happy because he was alert and making eye contact again after going backwards developmentally. This moment marked a lot of tension medically, for being essentially "undiagnosed" brought out strong reactions in different medical providers. Most doctors (the Hem-Onc team) wanted to treat Luka's symptoms, even if they didn't understand why it was happening; yet one provider (on consult from another team) suggested that he was just a "fussy baby." I think we can all agree that Luka wasn't fussy. At all. He was born with a rare and undiagnosed disease that is thought by experts to be unique to him.
This is just one moment of many of what it's like to be undiagnosed. This story focuses on our medical details of our undiagnosed journey, and I could write another 16 pages on the other aspects of disability paperwork, the emotional toll, and lack of access to support and services when not neatly in a diagnosis code.
We are just one family who lives in the reality of undiagnosed, but there are millions of others who face rare disease and don't even have a name for their condition, let alone a treatment plan. Makes me wonder if our nickname for Luka's condition, or "Luki SCID," that we used to joke around about will ever become a reality.
Thanks to the inspiration from Gina at Rare & Undiagnosed Network RUN and her work on the #UndiagnosedAlliance, here is: Our Rare + Undiagnosed Story: Luka and Maks.
