Strength for the Journey

Relying on God in our strange trip with Mitochondrial Disease

The Search for Diagnosis continues…

In summer of 2009 we were referred by our pediatrician to Riley Hospital for Children in Indianapolis.  We had already been there once to see the pediatric ophthalmologist about Erin’s crossed eyes.  That visit had revealed normal vision, but some delayed visual maturation (her eyes were maturing more slowly than expected).  Dr. S. recommended we wait to see if she would outgrow her crossed eyes, and follow up in the future.

This time we were referred to a Developmental Pediatrician and a Neurogeneticist (a combo of neurologist and geneticist).

The DP was the one we saw first… we couldn’t get them scheduled together of course.  I didn’t like him much and have thus blocked his name from my mind.  I suppose I should be grateful that he is the one who decided to try Miralax; which for Erin turned out to be truly a miracle cure for her constipation.  But when we left our appointment, I was depressed, hopeless and rather angry.  I asked Tom “Is this what you heard the doctor say: ‘Just take her home and love her and don’t expect much from her.'”  Tom agreed that that was what he had taken from the doctor visit.  I felt the doctor was rather patronizing, and he said many times that we shouldn’t get ‘hung up’ on finding a diagnosis.

Well I wanted a diagnosis dang-it!

The Neurogeneticist is my hero 🙂  We spent quite a long time having Erin examined and discussing our concerns and his impressions.  We started with some bloodwork to follow a hunch (one that turned out to be incorrect).  We also discussed the possibility of skin and muscle biopsies if we couldn’t get answers from the blood tests.  It sounded like a last resort, so we had the blood draw and waited another 3 months.

Did I mention God was working on teaching me patience?

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