Sunday, February 12, 2017

The Dream Team

I will always be amazed at how life happens around here.  It's hard, but at the same time, it's amazing.

In the thick of things this past week, I shot off a message to the DC Facebook support group I belong to for some advice on what could possibly be going on with Shelbie.  It's a place to connect with other parents taking care of rare children too. We compare symptoms and experiences. Sometimes, its all we have.

The President of the DC group saw my message and asked if she could reach out to some specialists for me regarding Shelbie's latest brain issues.  Here's where it gets strange...The President of the DC group has a son with DC who had a bone marrow transplant last year.  She lives not far from where my parents use to live.  Not only that, her cousin is in my ward and I use to babysit his wife.  Small World!

Anyways, she sent out an email to 7 of the top DC scientists, researchers and doctors in the world, with a little of Shelbie's history.  To my surprise, I received several emails in return with each of these doctors willing to help. I really still can't believe it.  My question was if short telomeres can cause brain deterioration and if it's common in DC.  Turns out they have had experience with DC patients who experience chronic strokes, seizures and deterioration. One doctor suggested that it is due to the pulmonary AVM's which Shelbie has. They didn't offer any solutions really but it helped to know we aren't completely crazy.  Sometimes, when it's non stop problems, one can begin to question everything.

I haven't had a chance to respond to them as they each requested more information.  We are now in a group email so I will get back to them later tonight with more details.

I am grateful that I am able to make connections with amazing doctors, who offer a fresh perspective and are willing to sacrifice time to help us.

In the meantime, we wait.  We wait for the latest tests from this week.  I don't even know when to expect to hear anything and oddly enough, I didn't ask.  While we were in Utah last week, in the ER to be exact, I received a call from our Neuro-Opthalmologist  who decided she wants Sam to have a brain MRI to look closer at the low lying cerebellar tonsil issue in his brain he surprised us with last Fall.  I asked her months ago if we were going to follow up on that and she said it was mild and probably not necessary.  I'm not sure what changed for her but now she wants it done right away.

We will get there but we need to pace ourselves first.  There is so much to do and so much to think about.  The challenge this week is to just stay present instead of trying to figure all this out before the doctors do.  One moment, I am convinced they will tell me she is having seizures.  The next moment, I'm sure it's blood clots and then I feel strongly that she has Chiari's, the low lying cerebellar tonsils that is blocking cerebral spinal fluid.  The bottom line is, I have no idea so there's no point to speculating and letting my mind run wild with anticipation of the worst case scenario.

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1 comment:

  1. Patience and chill can be hard to nail down, but you are all amazing and wonderful, and are doing amazing things.

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