5 Years, Part 1
Five years of trials, blood draws, spinal taps, acupuncture, scans, consults and scopes, vein-finding missions, PICC placements, echos, EKGs, hundreds of days of inpatient and outpatient admissions…for these five years, I have been enrolled in several clinical trials at the National Institutes of Health in Bethesda, Maryland. I came down the week after Trump was elected and I’ve suffered through his entire presidency, worried he was going to cut funding, presenting my case to his Health and Human Services people alongside one Dr. Tony Fauci (that’s how he introduced himself to me back in 2018). Four years of that simmering, low-level anxiety plus one year of Biden, a president who at least trusts Fauci & believes in science. Five years of countless medical experiments and consultancy with experts around the world…five years leading to this point, this exact moment in time: my last hope, NIH and my amazing team of doctors, admitting that they have exhausted all possible treatment when it comes to my case. Countless doctors and my main doctor, who has practically become family, Dr. Alexandra Freeman, have worked tirelessly for five years to expand and attempt to restore my previous working and traveling life. They’ve had varying degrees of success but time has run out: I’m never going to get better here or anywhere; I’m only going to get worse if we keep going the way we’re going. There is no cure. There is no miracle. There is one last Hail Mary pass, and it comes with tremendous risk and suffering. And that’s where we are, again, but with this time no hope of delay; no more the girl who cried bone marrow transplant.
But let’s go back a bit.
It’s the year 2016 and I have moved home for the final time from California. I’m permanently in NJ now, though I don’t know that at the time. I only know I’m getting worse, and I need to consolidate my care to my long term providers in New York City.
I see my doctors at Mount Sinai Hospital for the first time in years and they immediately ask to run a new test for a genetic mutation that might explain my complicated health history. When the results come back +, they diagnose me with the extremely rare STAT1 GOF (gain-of-function) mutation. We have found a root cause for all my medical issues, which to date, has caused a severe immune deficiency—a T Cell disorder which basically means I’m immune compromised and my body doesn’t fight fungus; severe autoimmune issues like lupus, type 1 diabetes, two awful and fatal diseases; cancers: thyroid and widespread and relentless skin cancer that has required dozens of surgeries. (These twice quarterly surgeries continue into present day.)
I remember the exact moment I’m told I tested positive for the mutation. My doctor hugs me (never a good sign). I remember hearing I cannot have my own biological children without risking passing it on. I remember hearing it’s incurable and largely untreatable and progressive. I remember hearing about a bone marrow transplant, with its obliteration of my immune system via high dose chemo, is a possible but incredibly risky idea. They have an idea for a drug in the meantime but they don’t expect Medicare to cover it, so they’re preparing to send me to the National Institutes of Health for this treatment and for full spectrum care. I know what the NIH is, but barely; I basically know it as an online encyclopedia of diseases. I find it worrisome my rare mutation doesn’t even have its own entry.
After a few months, I received an email from one of my doctor’s fellows that I’d been accepted as a patient at the NIH. I wrote the following in the fall of 2016.
“This week, the government's hospital, the National Institutes of Health, agreed to accept me as a patient.
It took six months to prepare my case to be presented to be accepted and it took six hours to get accepted. I'm not sure when I go, or what this means.
I am hopeful that a bone marrow transplant is taken off the table and another medicine or therapy is given a chance. I know a cure isn't possible and that it may be very true that I am outliving the latest model every single day. I don't know how scary this can get; I only know how scary it has gotten.
I'm willing to try anything to alleviate the diabetes or constant infection. I am scared the diabetes is so out of control that I'll lose limbs or my eyes. It all feels real now.
Here's to hoping.”
And now here we are, after many false starts and scheduled and then cancelled transplant days…we are ready to go forward with the transplant, which I have avoided and prayed for it’s omission as an option for years.
But it’s time to get ready. So. Here we go…
Part Two coming soon…