I am Mias, and I have GAMT deficiency

Today on day 18 of our rare disease awareness initiative, we have another birthday. HAPPY 3rd Birthday Mias!!

Mias's mum Carien, describes their diagnosis journey, and how valuable time was lost before her concerns were taken seriously. GAMT deficiency is a perfect candidate to be added to the newborn screeening programmes, as the devastating neurological effects of the condition can be avoided with early intervention with food supplements. Diagnosis must be made early!

Read the story of Mias below. Please share; it may just help one person looking for answers. Be part of someone's solution.

#raredisease #rarediseaseday #inbornerrorsofmetabolism #GAMTdeficiency #creatine #rarediseaseawareness

18. I am Mias (GAMT).docx

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