Devastating News
Hi y’all.
Last week I traveled into the city to meet with my old immunologist, Dr. Charlotte Cunningham-Rundles. I met her when I was 15 and fresh off a lupus diagnosis. I had had a primary immune deficiency since birth but my symptoms were increasing in severity as I aged. Dr. CCR been a valued part of my team since then, though I had not seen her since she referred me to the NIH five years ago. She diagnosed my genetic mutation and knew NIH was the only place that could really treat it.
At our appointment last week, we talked about the up and downsides of transplant, how it might stop the immune disregulation and fungal infections and resistance, but would not undo the damage that’s been done—like the diabetes & the gastro issues. She suggested I talk to the people at Baylor, who have been transplanting STAT1 GOF patients. She also connected me with a doctor at Memorial Sloan Kettering to see if he thinks transplant is a good idea.
Originally NIH told me they wanted to transplant this summer. My parents and I have been talking about the move to DC and were waiting on Sloan Kettering’s opinion before making a final decision.
Until today, when it all changed.
I had a Zoom meeting with my doctors at the NIH, Dr. Freeman and Dr. Arnold today. I caught them up on my meeting at Mount Sinai & they updated me on transplant. And that’s when they dropped a bomb on me.
Basically, NIH has paused all STAT1 GOF transplants after Baylor lost their last 2 patients with STAT1. They were young children with much better odds than me and yet they died during transplant.
This was extremely disheartening to hear, as NIH was pushing transplant on me pretty hard just a few weeks ago. They told me I was running out of time. It’s true I have become resistant to most antifungals, and all it could take is one resistant fungal infection to kill me. They said transplant was my best shot for longer survival and now that option is gone. My doctors there are upset with NIH pausing it. Freeman & the BMT team still think they would be able to get me through the process alive. But it’s off the table for now, probably for at least a year.
So what now?
Both doctors think meeting with Oved at Sloan Kettering is a good idea and I have an appointment tentatively scheduled for April 11. But who knows if he’ll even want to transplant me? I’m not an ideal candidate. This disease seems to be progressive and every year I get sicker.
Ideally Sloan thinks I’m a good candidate for transplant and okays the protocol.
For now I’m trying to focus on the present and not my uncertain future. One day at a time. I won’t pretend I’m not scared and lost, though, just desperately hoping something good breaks my way soon.