March 29th, 2018. A day that will forever stay fresh in my mind as my doctor sits in front of me and says, “there isn’t any treatment option. There isn’t any now and there isn’t any on the horizon.” The finality of those words stung with every breath as I nod my head and say, “ok”. I look at my mom and S, hoping that I had misheard Dr. A but to my dismay, it was real. As far as the majority of my doctors know, I am patient zero when it comes to the severity of my NK cell deficiency, combined with the other extremely rare diseases I have. There isn’t a protocol for them to follow, there isn’t a patient to study and learn from before me, I am it.
The last two days consisted of four appointments with some amazing doctors. The day started with Infectious Disease at one campus, then over to Mt. Zion to see ENT, and we finished the day back at Parnassus with Immunology. Infectious Disease was straight to the point and reminded me of my dad. He did two nasopharyngeal swabs and bilateral nasal swabs to check for any respiratory viruses and possible staph. One of the nasal swabs came back positive for staph and we’re still waiting for the culture to come back. Now onto my ENT visit… It was thorough, informative and guess what?? WE ACTUALLY HAVE A PLAN! I will undergo a tonsillectomy and bilateral turbinate reduction at the end of May. My deviated septum is mild and not a concern at this time, but the turbinates in my nose are inflamed and swollen, causing terrible congestion.
Immunology is the appointment that threw us a curve ball. We had high hopes of a treatment plan or any plan at all and there isn’t any. I will be having a full genetic test done, to see what gene(s) are affected. I now have to take extreme precautions to avoid viruses and infections. At the moment I’m quarantined to my house until I start antibiotics for this gnarly staph infection that started from a cut in my nose. I will have to religiously wash my hands, more than I already do. If at any time there is an emergency, I will have to be driven to UCSF for medical care and placed in isolation. Unfortunately, our home has to stay infection free too, so anyone with a sniffle, fever or any hint of sickness has to stay away.
This morning I saw a nephrologist for my hypokalemia and possible sodium dumping issue. I sure enough have a pretty severe case of hypokalemia, but my doctor is on top of figuring out a way to make it a tad bit better. There was a bunch of other stuff that was said, but today was a bad brain day and I can’t remember much. I do know that I have 50+ blood tests to do, as well as a renal sonogram.
I can’t thank you all enough for your love and support during these hard times.