I’m Isabel Plascencia’s mother. My daughter was diagnosed with Propionic Acidemia when she was 10 days old. From day one, I felt something wasn’t right. I don’t know how to explain it. All I’ll say is: “Don’t ignore that feeling, that mommy instinct.”

The first two years were very difficult, being in and out of the hospital and learning to spot those red flags that signaled a possible relapse. This taught us that accepting challenges is important, and, also, appreciating the time when the two of us are together.

Life with PA is difficult because of the financial obstacles, fatigue, and uncertainty, but ultimately, I believe life settles, and PA teaches us that we are capable of unthinkable things for our children. I believe we must take one step at a time and never lose faith, waiting for science to catch up with us.

Today Isabel is 6 years old, she is a fearless girl, she loves to dance, she is very cheerful and she really enjoys having friends.

We continue to work tirelessly on therapies and the special school, but today I see it as a blessing.

I’d like to add a welcome to new moms and families. Today we’re moving forward thanks to the support of the PA groups and the Rady Children’s Hospital.

Sincerely,

Vany Briones

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Spring 2025 PAF Newsletter Summer 2024 Newsletter
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Zineb Ammous, MD FACMG, PA 
Propionic Acidemia Overview
Elaine Wakefield, RDN, LP
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