Searching for My Molecular Diagnosis - Round 4

The long dramatic saga of trying to find what genetic flaw is causing Ehlers-Danlos Syndrome in me, told in five parts. Need to catch up? Start here. Enjoy.

Round 4

One day I called Cedars-Sinai to say hello and see if there was any other genetic study I could do. What do you know ... they had me come in!

Waiting for the genetic counselor, to go through all the paperwork. Fun! No pics allowed at Cedars!

GeneDX offered to review my whole exome study at no charge because there had been so many advances since my study was done, and my study was really expensive. That was awfully nice of them. Good thing I called. 

Sneaking a pic.

Sneaking a pic.

This round, I got seen at the Heart Institute, Cedars Sinai Medical Center. They send the marfanoid patients there now because we tend to have heart defects. It is a relief not to be in Pediatrics. But everyone in the waiting room here looks like they are in congestive heart failure. I do not fit in. Why isn’t there a connective tissue disorder clinic?

November 2016

Here I am back to find out the results of the review. I know they found nothing because if they had, they would have asked for another blood sample to double check. That is how these things work. I have been doing this for a while. 

Bracing myself bad news. Sneaking a pic.

Bracing myself bad news. Sneaking a pic.

CAUSE NOT FOUND

Cause4.jpg

Even though I knew I was getting this news, I was crushed. 

I was so dizzy and upset when I left, I nearly fell into the sidewalk. Post Cause Not Found Depression Syndrome hits me very very hard, every time. I cannot help it. I know what it would mean for my disease to get a cause found.

I did a lap at The Beverly Center to calm down. That is a weird mall. Every few years they do an extensive renovation and when it is done, it is almost like they did nothing at all. And it always smells like car exhaust in there. It comes in from the elevators that open to the many levels of parking. The Beverly Center was built for a climate like Minnesota, all enclosed. The ventilation is poor. I would rather never go there. Some buildings would be better off demolished and rebuilt.

I thought about my DNA studies as I walked The Miserable Beverly Center, clutching my chest with grief. I tried to reassure myself that I had gained some knowledge about my problem, that no one in the world knows where my cause is. (Genetic disorders are described by location on the genome, so it is a question of where.) At least that’s something, right? We are getting very very certain that absolutely no one knows! Yay?

I dried my tears.

We had tickets to see The 1975 at the Forum that night. They were so cute at Coachella.

The Forum renovation did not help it much, ether. 

The Forum renovation did not help it much, ether. 

It was a great show.

Mr. Pennington is always picking up the pieces.

Madora Pennington