Banjos, babies, and lost paperwork

If this title makes no sense, you’ve probably missed Wednesday’s post. Go ahead, we’ll wait for you. Ready? Alrighty then.

So now that all of my doctors are clear on the fact that I’m not inbred, my fertility counselor continued searching for ideas on how to get the strange test results situation resolved. Unfortunately, I couldn’t meet with the lovely Julie and her doctors because my insurance isn’t accepted there. And since the first round of genetic testing came to a whopping $17k, it’s not exactly in our budget to pay out of pocket.

One of Julie’s co-workers had a fantastic idea that we’re following through with, which is applying for consideration to clinical research at the National Institute of Health.

Apparently, they have an on-going clinical trial to study the hereditary of neuromuscular diseases, including muscular dystrophy. And since it’s research . . . there is no cost for the appointment, or any testing they do. Yay!

My fertility counselor said she expects the clinical research appointment will tell us one of three things:

1. There was a human error with the original genetic testing. If this is true, I most likely have a clear-cut case of a dominant disease, which brings Ben and I back to the whole 50/50 chance of passing the disease along to a baby. Which is what we were told over a year ago.
2. I actually have a recessive form of the disease and received a recessive carrier gene from both of my parents. While  this is possible, it’s rare.
3. My family does not have Limb Girdle muscular dystrophy, but rather a lesser-known (or possibly never-before-identified) form of muscular dystrophy that mimics the symptoms of LGMD.

Personally, I’m hoping for option number 1, because it’s the easiest answer. Having an unidentified variant of a disease, albeit pretty cool, is not helpful when I’m looking for pregnancy answers.

So, back in October, I got in touch with a woman at the new hospital I’ll be dealing with, and sent a form to my current doctors to release my medical records.

When I still hadn’t heard anything at the beginning of this week, I figured I should check in on everything.

My doctors hadn’t sent the paperwork. In fact, when I called, I was transferred four times until a supervisor told me that my request form wasn’t even in the system. Of. Course. Not.

(Seriously. Could this be ANY more difficult?)

Thankfully, the supervisor was fantastic and within an hour, a new request form was signed, sent, and received. And in the usual 7-10 business days routine, my medical records should be making their way down to the NIH, where hopefully neurogenetics doctors will take pity on me and set up an appointment.

And then after my appointment, maybe . . . just maybe.

We’ll actually be able to start trying fertility meds.

(Which means going back to the hospital that loses my paperwork. And thinks my parents are siblings.  Someone hold me.)