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Propionic Acidemia

Our son, Martin, was born on 05/25/2020, well and healthy, we were discharged on 05/27, and we observed on 05/29 loss of appetite and altered breathing, on 05/30 following with these symptoms and also low temperature. We talked to the doctor Pediatrician and went to seek emergency care, there they provided the first care and we were referred to the ICU, due to the signs and symptoms we had two suspicions, a sepsis or an inborn error of the metabolism.   They began to treat the most common situation, sepsis, and the next day there was no improvement.  We were transferred to the state reference hospital in inborn errors, and we achieved a rapid diagnosis.  We were hospitalized on Saturday, Sunday there was the transfer to the reference hospital and Monday we received the diagnosis of Propionic Acidemia.
We were hospitalized in the ICU for 24 days, Martin was metabolically stabilized, but other neurological and hematological issues arose, but he left without any consequences of this situation.
He’s a beautiful, active, very smart baby. A great warrior!!
We parents and the genetics medical team are very optimistic about Martin’s development.

In a very brief way this is our story so far. We went through a horrible moment of great anguish and fear, a situation we never imagined going through and feelings we had never felt before…. but thank God we’re okay!
(Translated from Google translate – apologize for any errors)

Rio Grande do Sul Brazil

From the Fall 2020 OAA Newsletter

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