For the first time we have insight into why our girl’s medical picture looks the way it does ~ and we have research articles that tell us what sorts of issues affect others with similar genetic profiles.
One thing we have found is that while having a tentative diagnosis has opened new doors to us, it can also have the effect of closing minds unwilling to journey into the unknown.
On a visit to a local retinal specialist, the doctor had his assistants ran a plethora of tests on Amy’s eyes. After a nearly two-hour wait, he entered our examination room, rare disease journal article clutched in his hand. Instead of reporting on test results, he told me (in front of her) she might have a potentially blinding condition.
In my shock at his abrupt presentation, I stopped him mid-sentence and asked, “What condition do you think she has? Is it treatable?”
The doctor huffed and said, “Treatable? Treatable?” He waved toward the journal article, “THIS isn’t treatable. Her ‘condition’ is like Alzheimer’s. You just need to make her comfortable and prepare for the future.”
And then he walked out.
Needless to say, the eminent specialist got himself fired in that moment. The last thing we need on Amy’s medical team is someone who has already shuttered his mind to even the idea of hope.