Dr. appointments - part 2

(part 1)

We arrived bright and early at Shriners Hospital in Greenville, SC.  This was our second visit to the hospital, the first appointment almost a year ago.  Last summer, the doctor who saw us recommended that we see their "world-renowned" geneticist group.  An appointment with this group is booked a year in advance, so we did what we often do on this journey.  Wait.

The geneticist we saw said that his group had actually trained the two geneticists that we have met with over the years in Morganton.  He said that while he appreciated the "world-renowned" compliment, it may not be that this group can provide much more than the group we already see.  However, when Brian and I left with Olivia a few hours later, we both agreed that it was worth the trip.

Dr. Genes talked with us, read some of our documentation (in the big fat binder we lovingly call the Book of Olivia), and shared his thoughts on her characteristics and ideas for next steps.  He was a very nice man, and the pace at which he spoke was slow and soothing, allowing us to soak in his comments and interject with questions whenever the need arose.

Now that over a week has passed since our visit to Shriners, I'm sure I'll forget many of the things I wanted to remember... but, here goes.  In whatever order my sad little memory chooses to recall.

It didn't take long for Dr. Genes to agree that the moniker "Mystery Girl" was a good fit for our girl.  We discussed the the only diagnoses we currently have are actually not diagnoses at all.  Arthrogryposis and Autism are descriptions, but the cause(s) for these conditions are as unknown as they were before we attached those labels to Olivia.  We talked about how ineffective botox usually is with arthrogryposis patients, and how our girl seems to respond positively to the injections, much like children who have cerebral palsy.  Yet again, we are talking about a description, not a diagnosis, when using the term cerebral palsy.  So, even though we don't have that label attached to O's disabilities, it is likely that we could/will eventually meet a doctor who describes her as such.  And, the mystery girl stays mysterious.

Dr. Genes suggested we look into a gait analysis to give us a better understanding about exactly what muscles are/are not being used, and to what degree, when Olivia walks.  I had never heard of such a test, but I have since researched more about it and I'm excited about having this assessment done.  He also recommended that we discuss the need for a muscle biopsy with our neurologist.  Again, this seems like a logical next step.

We talked about a blood test that our prior geneticist group had recommended.  We never had the blood work done (which I know decreases our chances of winning any parent-of-the-year award).  But, as we've said before, Brian and I find ourselves immersed in doctors visits and therapies and research and tests for a while, and then we find the pendulum swinging the other direction, where we just love this amazing girl just as she is and we enjoy life without being wrapped up in trying to solve mysteries that simply may not be solved this side of heaven.  It's a balancing act that often feels out-of-balance.  That's when we pray for peace.

Dr. Genes said the blood test could possibly give us some valuable information, so we had the blood work done while we were there.  The test is called an array, and apparently includes such new technologies that the results can sometimes be more puzzling than not. Yep. There is a possibility for more mysteries to be revealed.

We asked his thoughts on whether or not it would be beneficial to travel to Seattle for the arthrogryposis clinic.  He said that he knew of a doctor at that clinic who was very well-versed in AMC and genetics, and he thought it would be helpful to have Olivia seen by him.  Dr. Genes took pictures of Olivia and plans to forward those to this doctor in Seattle, along with the summary of our visit.  Guess it's time to plan a trip.  (Get ready, Jaclyn! The Murrays are invading Seattle!)

Knowing we would be going to see Dr. Neuro the following week, we were also interested in asking about the need for a longer EEG.  Dr. Genes agreed that it would really be needed to rule out seizure activity.  Even though I was ready to demand a long EEG from Dr. Neuro, it was nice to hear Dr. Genes agree with us that this is an important test to have.

I'm sure this isn't a comprehensive list of topics we covered during our time together, but I think I've hit the highlights. I'll rely on Brian's memory to help fill in the gaps and add more in another post if I left out anything big.

Olivia provided some much needed humor as we prepared to leave the hospital.  While I was checking out, Brian let Olivia drive herself around in her wheelchair.  She headed down a long hallway, turning into the first open doorway, where she found a few doctors/nurses looking at scans.  Though they were friendly to her, Brian grabbed her before she interrupted more.  She headed down to the next door, turning left to go inside.  That is, until she saw the bed with the white paper on it.  She backed her way out quickly.  My girl knows what that white paper is.  Brian said that she drove on down to the next room but approached it much more cautiously, easing her face around the corner to investigate first.  More white paper.  Forget it.  Moving on.

She's a smart girl.