I met with my specialists for yet another round of appointments over the past week. There are still no answers for me. I had a few more diagnostic tests. The tests have not given us any more information. The specialists are at a loss as to what type of treatment to give me. We all agreed that I would stop the hydroxychloroquine since it was not helping.

The puzzle continues. This is not easy. There is atill pain every single day.

I have heard the following from my specialists over the last week:

“Focus on your quality of life”

“Start a bucket list”

“You are going to have to learn to deal with the pain”

I started out the year with happy thoughts and high expectations that we would find answers for my children as well as for myself. I’m losing the faith right now that the answers will ever be here.

We met with a geneticist here in Utah to go over the results from Wisconsin. He did not believe that any of the three variants that Wisconsin found in Ava were going to be of any relevance.

We are back to square one right now for the three children.

We have to start over to fight with the insurance company to approve whole genome sequencing for the children. We know they will not approve it.

We will then have to fight with them to approve the whole exome analysis for Oskar and Lucy in a clinical setting.

We will then have to fight with them to have whole exome sequencing performed as a Trio – for myself with my mother and father. This will take months to get approved.

All of this battling with our insurance company over approving the following…sequencings, MRIs, MRAs. sleep studies, PET CT scans, etc….IS EXHAUSTING!

I actually left a message last week crying on the voice mail of the insurance company’s patient advocate line. I cried and cried that they need to approve everything that the specialists are requesting. When more than five specialists are in agreement that a certain diagnostic test will help them in figuring out treatment for a patient, then the insurance company should listen and approve it.

I’m back to square one. Ava, Oskar and Lucy are back to square one.

We do not have a diagnosis.

We have doctors that do not know how to treat the symptoms.

We are still continuing to live in a diagnostic odyssey.

We are still living in the fear of the unknown.