The long dramatic saga of trying to find what genetic flaw is causing Ehlers-Danlos Syndrome in me, told in five parts. Enjoy!

Round 1

November 2012

Ordering Hospital: Cedars-Sinai

Type of Study: Whole Exome Sequencing

Why Ordered: Those of us that present with HEDS get discouraged from seeking DNA study. Why did they do it for me? Dr. Plance wrote a letter saying I wanted my genotype (molecular diagnosis) to confirm my phenotype (the lovely presentation of Ehlers-Danlos that is me). Doctors tend to listen to other doctors. Plus I showed up at the right time. Read on.

Exome is the area of coding genes, as opposed to what is in between the coding genes, called the junk or non-conding DNA or the intron area. Whole exome sequencing is an attempt to capture as much of the coding DNA as possible, which is what the “whole”  refers to, although it does not capture the whole thing. The monster supercomputer has its limits. But it tries. We got lucky with my attempt. Coverage was excellent, meaning the monster supercomputer got a lot of the coding region. Yay!!

Sequencing means they actually take apart my genes and write down the code in them. Or rather, the monster supercomputer does. It would be too much work for a human. It would take a lifetime. The human genome is huge. A genome is all the exome and junk DNA. Keeping up?

Less expensive, less complicated genetic tests, like panels, look for known problem genes. It is like the lab sticks a magnet into the haystack of your DNA, looking for a metal needle, that being known problem genes. Those tests are limited, much less expensive and not useful in my situation, since I do not present with Classical EDS, for which they have some luck finding a problem version of CollagenGene5A1 or CollagenGene5A2.

This was the beginning of exome sequencing being done commercially. I had showed up at Cedars-Sinai at the right time. The only test with any hope for me was this one, being offered for the first time. What genetic flaw causes HEDS has not been discovered. The monster supercomputer must hunt for mine. The timing was lucky. 

It was expensive. Wow. Thank you, Cigna.

GeneDX did the insurance pre-approval. It makes it easier on the doctors if the lab will do that. Doctors have to manage their time, and they hate to get on the phone and beg your insurance themselves. Don’t you?

Very exciting day, getting the blood draw at Cedars to be shipped to GeneDX in Maryland.

That sunny and crisp November day was the most beautiful type of day in Los Angeles. My favorite kind of day. All the smog blown out of the city and the air smelling like autumn. Peaceful and heavenly was the air. Me too. I walked home from Cedars dreaming of the possibilities of what could be. I may have been floating. That walk home was a wonderful moment in my life I will never forget, no matter what disappointment happens next.

If you are chronically ill, you enjoy what you can, especially the moments of hope. You can appreciate and savor much more than a person who has so much more. Sink your teeth in. It is your life and your experiences. Your fate, your destiny. You decide. 

Waiting for the results took months.

In the meantime, I went on a trip, started injecting C everyday, and visited the San Jose Tech Museum in Northern California. There, I gazed longingly into a DNA sequencer.

This pic happens to be from my first few days on daily C shots. Curious coincidence!

Dr. Plance strongly disagreed with injecting this much, but I was getting a terrible head cold and had surgery scheduled for when I got home. So, I did it anyway. Although he is rather intimidating, he could not stop me. 

Back home, in the weeks after my surgery, I had some severe personal stress. I tried to push down the feelings and ignore them because I needed to rest after surgery. Perhaps I should have openly expressed them a bit more? Suddenly I had the worst mast reaction ever. That is when immune cells go crazy, a typical problem for someone with Ehlers-Danlos. I broke out in hives one morning, for no reason, with my face, throat and hands swelling. It was like someone set me on fire. Every burning feeling I felt inside bursting on the outside.

I saw an allergist later and he painstakingly tried to figure out what had caused the reaction. The allergist went over and over everything I did that day leading up to this. Then he had me re-take everything I had ingested, individually, on different days with a Bendaryl shot handy. (Isn’t there a skin test? No, he said. This is the way.) I reacted to nothing. It seems it was only emotional distress.

Back to that morning with the rapidly erupting hives, I paged my doctor but could not wait for his response, as my face and throat began to swell. Well-versed in dealing with an EDS crisis, Mr. Pennington rushed me to Olympia Medical Center. I avoid trauma ERs if I can, the ones that receive accident victims. Who wants the competition for getting seen and out of there?

With my dramatic appearance, Olympia took me in fast. That Benadryl IV was the best thing ever! Cooled off the fire in my skin right away. Knocked that swelling out fast.

The ER doctor was lovely. He told me I was hours away from dying. Well, that was good news! I had thought death was imminent. I guess I could have walked to the ER. He patiently tried to explain what happened, until I understood. That took a while. The next day, he called to see how I was. I wrote him a thank you card, as I often do with doctors. They have a hard life. Patients are a lot of work.

No pics of the swelling. It was too disgusting. 

Before this incident, I had only had occasional stress rashes. I had had some food intolerances but they had gone away from sporadic C shots. I am not a super masty girl. I have great empathy for those of you who are super masty. I hope this never happens again. It was so scary. 

Avoid impossible people and their wake, if you have EDS. Managing this life-ruining disease is stressful enough.

This mast blow up was so exhausting, it was like recovering from pneumonia. I could hardly move for two weeks.

March 2013. Results of GeneDX Whole Exome Study in.

Daily Injections of Vitamin C: 4 months

CAUSE NOT FOUND

I cried for months after I got the news, even though Cedars told me I probably would not get a cause found. I was surprised at my reaction. Who has time to care about feelings when you are this sick?

I hid my devastation. I dried my tears and saved them for when I was alone. For months.

I got busy, now that I was feeling better physically, thanks to my daily C shots, even though I was profoundly depressed over my cause not found and that horrible trip to the Olympia Medical Center ER, and the stress that caused that misery.

Sad and contemplative, shaken to the core and wounded, I moved on.

I was injecting C daily. The deep end of my pool of physical suffering was becoming more shallow. I could feel it, especially the mental clarity I was gaining. When people have scurvy, they lose the ability to think clearly. Isn’t that fascinating. EDS makes you really stupid even if you have a very high IQ. Have you noticed, Ditzy EDS Genius reading this?

I was just feeling better. It was time to try physical therapy again. Mr. Pennington suggested I get a fitness trainer certificate, so I could understand exercise and benefit more. I found a great course. I learned a ton.

June 2013

Daily Injections of Vitamin C: 7 months

I went back to physical therapy and started getting somewhere this time. This clinic was Pilates based, so it sucked. That ridiculous Reformer overloads joints. If you are lying down you cannot activate your core well at all. This hardly burns any calories because the machine is doing the work. Mostly superficial abdominal muscles are being addressed, not deep ones. Forget working on the muscles that wrap the spine because this won’t do it. My head and neck are not built for this nonsense. Who thinks this is a good idea? Ouch.

But I did benefit, even though it was straining. I liked the physical therapist very much. She was a grad student from USC. I gave it a few weeks. Then I said thank you and quickly moved on to better modalities: weights and Power Plate. I wrote more about exercise here: Uprightness, Let's Exercise and Physical Therapy.

Then I got even busier. With all my exercise progress, I was gaining stability. Yay!! Onto my next project: Reducing my Vicodin dose. That was all that mattered.

I got very busy crying from the agony of opiate withdrawal, which was my goal so it made me happy. I did not have time to think of my cause not found.

But every time I thought of my cause not found, I could hardly stand it. It made me feel so despondent. I tried not to think about it. (sigh)

The point of getting a cause found is to understand the disease better and work out a treatment for it. A single cause rare genetic disorder makes such a magnificent disaster, but it has one cause. Most diseases have many factors contributing to their cause. That is complicated. The dramatic rare genetic disorder? Simple, pimple! Right? Right!

I was getting what I wanted without a cause found. I should not be too greedy and want more. 

But I am. And I do.

There must be a much better treatment, and those C shots can hurt. Find the cause and a better treatment can be figured out! I won’t stop torturing myself with genetic studies!

The story of Round 2 next.