Darin and Mary Hunter started Every Link Matters because they have struggled with their own daughter, Emilee’s, KBG syndrome. Two years ago, Emilee was diagnosed with neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL). Neither Darin nor Mary are carriers of these genes.

When doctors diagnosed Emilee, the Hunters were informed that fewer than 300 people worldwide have been diagnosed. What does this mean? They have a better chance of winning the Powerball than Emilee having this gene mutation without her parents being carriers. Emilee’s geneticist recommended joining a support group on Facebook. Through the support group and connecting with other families, they now have 12 recommended specialists. So far, they have seen:

  • Otorhinolaryngologist (ENT)
  • Cardiologist
  • Allergist
  • Neurologist
  • Endocrinologist
  • Gastrointestinal/Aerodigestive gastrointestinal specialist
  • Geneticist

“We do therapy 6 times a week for speech, OT and PT, ENT visits once a month to hopefully preserve her hearing, dairy free diet to help with GI issues, tons of blood work to see future issues and she’s been on medicine to help with ear glue, allergies, GI issues and appetite increasers.” says Mary

Mary and Darin are grateful for their friends and family who have supported them through this unforeseeable journey. They aspire to continue spreading the word about KBG through Every Link Matters.

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