Hi everyone. I'll keep this as brief as possible. I spent almost a decade getting progressively sicker while doctor after doctor dismissed me and told me it was all in my head, until at 32, I basically collapsed, unable to eat even soup broth and struggling to remain conscious for more than a few hours at a time. After fighting for my life for a year, I finally found the single physician in Los Angeles who could diagnose me. There aren't any words for what it feels like to be told in the prime of your life that you have a trifecta of debilitating health disorders for which there is currently no cure,so I won't try: You either already know, or I pray that you never ever do. What I can attempt to articulate is how relieved I felt to finally have proof that I wasn't crazy. My conditions were very real. So why hadn't I heard of them before, even with my years of frantic research? Why hadn't the dozens of physicians I'd seen over the years been able to diagnose me? Well, it turns out patients with my conditions all have something in common: we're women. Young women. "Normal" looking women. And as my specialist began to explain that there weren't any doctors who wanted to study these disorders, that there was no funding for research, that my decade of dismissal was actually the average amount of time a woman goes before receiving this diagnosis - the picture became incredibly clear, and I became incredibly outraged. Honestly, sometimes it is only the blood-boiling fury of the injustice that sustains me as I battle not only my incredibly challenging illnesses, but the medical industry and insurance companies. "The treatment isn't covered". "The medicine isn't covered". "We can't order those tests". Why? There isn't enough research to justify the coverage.There isn't enough research because nobody cares about girls like you.
Luckily they're wrong. There is someone who cares about girls like me...other girls like me. The greatest blessing of being diagnosed is that I've connected with hundreds of brave young women who are helping each other by providing information and emotional support. While I am grateful for my specialists, I owe the majority of the functioning I have been able to regain to these fellow patients. So when I told them that I've been fighting for 2 years to get genetic testing covered, I was horrified to learn that they'd all had to pay for the tests with their own money, then upload the raw data into crowdsourced online databases, print out a report, and bring the results back to their doctors. Seriously. This is American healthcare in 2021. When someone says something like that once, you respond with skepticism. When one girl after the next tells you the same thing as if it's a totally normal thing to say - you start to consider it.
What will genetic testing actually accomplish? Unfortunately, that depends on what we find. Some of the patients I've spoken with have identified mutations that helped diagnose previously undetected comorbidities that were going untreated. Some learned what types of medication they would respond best to or why they don't tolerate some medications. I've done an enormous amount of research to try to educate myself on what I'm looking for, and I'm happy to explain all that to anyone who is interested. It's possible that I may find mutations that modern medicine can't yet connect to my conditions, but might be able to in the next few years (it took a pandemic, but there's finally some NIH funding being directed towards my conditions because COVID long-haulers are getting them). Still, it's possible that the testing won't find anything, and I want to be upfront about that. It's really uncomfortable for me to ask friends and loved ones to help me pay for something that might not make anything better - but I won't know unless I try.
Here is my plan as it currently stands:
STEP 1: I have two appointments in the next 3 weeks 1) to rule out antibodies that can mimic the genetic disorders I'm looking for 2) To try and convince the genetic counselor assigned to me by my health provider to test for as many of the most highly associated genetic mutations to my conditions as I can. If a miracle occurs at the step for some reason, I will gladly refund everyone.
STEP 2: Order WES w/mDNA (I have identified the company with the lowest price for the most comprehensive test - it costs $800)
STEP 3: Upload the data into the free and low cost databases - see if anything gets flagged
STEP 4: Take the raw data to the genetic counselor I am assigned through my healthcare provider - see if she is willing to analyze it, and whether she can identify anything
STEP 5: If all that fails, which it very well may, I am working on negotiating the price down for a highly respected geneticist who specializes in these conditions, but unfortunately costs ballpark $3,000.
I wouldn't take such financially risky steps if I had any other options. It's scary for me to say, but I feel that I've exhausted the resources my physicians and insurance are willing to provide. Without more information about what could potentially be causing my illnesses, this is all the doctors can do for me. I sincerely hope that one day I am well enough to fight against the cruel restrictions placed on "rare" disease patients. I hope that I can change the laws, educate the doctors, and empower the patients. But first, I have to save myself.
Thank you from the bottom of my heart for your support.