I keep my ear to the ground when it comes to my rotten rare disease, Hypermobility Ehlers-Danlos Syndrome. Just a second ago, I heard rumbling... a new possible cause of hEDS.

This gene has a gr8t name, which is f*cking awesome because no one can even pronounce Ehlers-Danlos. Wouldn’t my life be better if I could say, “I have super-cute-gene-caused EDS.” Yes!

Immediately I asked Google, “What does this gene do?” You remember from my last post that human genes multitask. It can take a lot of research to learn everything one gene does. What is known about this gene sounds a lot like what is going wrong inside me. Yeah!!!!!

The List of Ingredients to Make Me

I had a whole exome study done through Cedars-Sinai in 2012. I was very lucky to get it.

A whole exome study melts down your DNA and a monster computer goes through it and comes up with the list of ingredients for the recipe that makes YOU.

In case you are wondering the difference, an exam like 23andme is only fishing through your DNA soup with a big magnet that will attract known mutations (simple task), not making an Ingredient List for the You Recipe (very complicated task).

The point was to find that one ingredient that is f*cking up my life.

A whole exome study has limitations because there are other disease causing genetic errors besides a gene with a harmful code (deleterious mutation). A whole exome study would miss all of them:

• A gene deletion, when a gene is not there at all... yikes!

• Multiple copies of a gene... OMG!

• A gene in the wrong location... WTF?

• Something in the junk DNA preventing a coding gene from functioning... Ruh-ro!

• A whole exome study when I had it (not sure about now) could not examine all the exons (coding DNA). Some parts of the human genome are really hard to get at… Whut?

I just happened to show up at Cedars-Sinai at the right moment. I try hard to be lucky. It’s a skill I work at constantly, just like my posture. The whole exome study was the state-of-the-art test in 2012. It had just become commercially available. Yay! Before that, a big genetic evaluation could only be done in a research lab.

Cedars strongly suggested I get the study done, even though, they said, it was unlikely I would get a “Cause Found.” Why? Because the making of collagen in a human is extremely complicated and not fully understood, not at that time, and still not now. The best I could hope for was a “Variant of Unknown Clinical Significance” which is the report issued on a suspicious gene that does not have enough research behind it to conclude it is officially “the problem.”

Cedars told me to do it anyway because the data, my data, from nearly all of my coding genes (Epic! Monumental!) would remain on the servers at GeneDx, waiting for future reasearch, as more and more is discovered about how collagen is made in a human.

Cedars got me a deal at GeneDx. I paid $1,000 and my insurance paid like $15,000, if I remember correctly. My cardiologist regretted not becoming a geneticist when I told him about that big payout.

I signed a consent acknowledging that this expensive study would miss 5 to 15% of my coding genes. That was the limitation of the technology, no way around it.

I signed a consent agreeing that I would not be told of any scary genes that had nothing to do with collagen production.

I checked the box “yes” that I would be told if my parents are actually my parents.

A few months later in 2013, I got my “Cause Not Found.” I cried for a few weeks, which was mysterious to me then. Looking back on it now, my tears were probably because my parents are my parents.

Beating That Study to Death

The List of Ingredients to Make Me from my GeneDx whole exome study has been re-examined twice.

UCLA Medical Genetics got a grad student to go through it, and wasn’t that nice!

Genetics Departments are stressful places to work, giving out bad news with little or no hope to distraught parents with very sick children. Here I was, an unbelievable story of luck and hope. I walked in there with my Dior bag and finest cashmere sweater (the doctor was French), shaking and sweating, fresh off years of continuous morphine and Vicodin, sporting all these marvelous improvements I got from injecting Vitamin C. How curious!

GeneDx did a thorough re-evaluation for no charge in 2016, extremely generous!

Still my status remained, “Cause Not Found.”

So when I heard just a minute ago that there was a suspicious gene on the horizon of hEDS, I emailed GeneDx to ask for my coding of that gene.

Many times in my medical career, I have boldly picked up the phone and charmed people into answering my questions, especially before everyone had email. I do it with an air of entitlement but also manners. I could get people on the phone who have no business talking to a patient, and get them to answer my questions. You had to do things like that before there was Google Scholar. There was no other way to learn, besides going to the library.

Answer my questions or get out of my way!

And why shouldn’t I ask anyone I can my questions about hEDS?

This is my life getting ruined by this rotten disease no one can figure out.

Answer my questions or get out of my way!

In fact, I have been so busy trying to get better I haven’t had a chance to write grand declarations of my victimhood or fantasy hate mail to doctors for The Toxic, I mean The Mighty. I do hope I get around to that. But now with my job and my un-disabled life, no time. Darn.

I have bothered GeneDx with my questions many times in the past. GeneDx told me off every! single! time! How dare I, the patient, inquire on my own without the intermediary of a geneticist! How shockingly inappropriate!

They put me in a place. But I never cared. I continued to ask my questions. That’s my DNA study paid for by me for the benefit of me, even if they don’t see it that way.

The real problem, GeneDX, is that the geneticist doesn’t want to talk to me either. I am already diagnosed and have had every genetic study available, so stop bothering them already! I can’t even get an appointment in Genetics to have a chat. 😡

I am sorry to say that Genetics Departments don’t understand why I even care what is causing my disease. How sad. They have no vision.

Duh, I would get the name of that rotten gene tattooed up and down my arms and all over my face like a Millennial.

Just kidding.

Since the name of a gene is not a skull, heart, rose, butterfly, knife, Mickey Mouse, soon to be ex-lover or positive affirmation (the sorts of thing you definitely will want on your body for your entire life) it would not make a rockin’ tat.

In my contacts I have names of scientists I have met at Global Genes from companies that develop drugs to treat rare genetic disorders. The day I get my “Cause Found,” I’ll be calling all of them, just after I finish my Google and PubMed search to learn everything known about what that gene does. Duh.

Team Help Me

This time GeneDx didn’t scold me. They didn’t tell me to go away and see a geneticist. GeneDx replied in under two hours, graciously and politely, with a real answer. Awwww, GeneDx!! I’m so proud of you. You’re all grown up! 🥰 🥰 🥰 🥰 🥰 🥰

It was amazing.

It warmed my heart.

It was a truly transcendent moment in my life. I felt harmony with the universe, gazing down at the screen of me iPhone.

It’s like we’re all on the same team now: Team Help Me.

“The XXXX gene, alternately known as XXXXX, did NOT have sufficient coverage by exome sequencing. The coverage was 19.9% at 10x, with 0% coverage of exons 1-5, 81.3% coverage of exon 6, and 100% coverage of exon 7.

“XXXXX is a candidate gene, meaning there not enough evidence to clearly associate this gene with any human disease/clinical symptoms. GeneDx does not offer single gene testing for XXXXX and it is not on any of our panels. If this patient is interested in pursuing testing of this gene, she could talk with her physician and they may be able to find a research lab to help them. ”

F*ck! F*ck! F*ck!

That gene was not pulled out of my DNA soup by the monster in the computer at GeneDx. It was one of the ones that was missed, so GeneDx doesn’t know what the coding of mine is. 😢

They don’t have a test to look at it, either. 😢

I don’t know how this all works, but I suppose GeneDx would have to get a new blood sample from me and hire an Aspie programmer to tell the monster in the computer how to suck out of my blood and decode it, which they are not going to when this gene is not backed by evidence that it causes hEDS or any problem. At least not yet.

Nonetheless, I was truly touched. And empowered by the detail of that answer.

I started contacting other labs about getting my copy of that gene sequenced.

I go to bed at night dreaming of a “Variant of Unknown Clinical Significance” report with my name on it and the awesome name of gene XXXXX.

I sure hope that is the one.

It would be f*cking awesome to know.

Catch up on the riveting saga of all my DNA studies here.