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What My Child's Rare Disease Diagnosis Taught Me About Embracing the Small Moments

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themighty.com

White matter clinic appointments feel the most complex and exhausting appointments we have in this family. These appointments have multiple specialists in and out in a short period of time with an overwhelming load of information and recommendations.

So on December 6, 2019, when the genetics part team explained my child’s whole exome sequencing (WES) results, I am sure I missed some of what they said.

I was surprised they found anything at all — we had already hit the “rare disease jackpot” several times in our home, and how many times can lightning strike in the same place?

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