Ryan

Propionic Acidemia, Age 5 months

On February 15, 2025, we welcomed our beautiful daughter, Ryan, into the world after a normal, healthy pregnancy. Her birth was everything we had dreamed of—peaceful, joyful, and full of love. As a first-time mom, I was completely in awe. My husband and I were overwhelmed with happiness.

About five days after we brought her home, we received a call from the hospital. They informed us that the blood taken for the newborn screening hadn’t gone through properly and needed to be repeated. At first, I panicked. I had missed their call and heard the message through voicemail. When I returned the call, they assured me it was just a technical issue and that I didn’t need to worry. So, we brought Ryan back in for a repeat test.

Roughly a week later, my phone rang again. This time, it was a nurse from the children’s hospital (LHSC) in a nearby city (London, Ontario). She explained that Ryan had tested positive for a rare metabolic disorder called Propionic Acidemia. I remember her asking if Ryan was eating, having wet diapers, if she was lethargic, or showing any unusual signs. Thankfully, Ryan was doing well—she was a bit sleepy, but she also had jaundice at the time. Then, she asked if we could be there in the next hour. I was a complete mess. Like so many parents, I made the mistake of googling the disorder on the way there. The fear and uncertainty were overwhelming.

From the beginning, her medical team was confused. Most babies with Propionic Acidemia present very differently—and very quickly—often showing signs of distress within the first few days of life. But Ryan appeared perfectly healthy. Her blood work had them puzzled. It even took time for the markers to show clearly in her urine. That uncertainty made the early days even more difficult.

For the first month, we were at the hospital almost every week. Ryan had so much blood work (which was heartbreaking to watch), and both my husband and I underwent testing as well. Over a short amount of time, we got to know her metabolic team, who have been nothing short of incredible. At first, I held onto hope that maybe it was all a mistake—that her follow-up tests would come back clear. She seemed so healthy. But when Ryan was around 3 to 4 months old, she was officially diagnosed with Mild Propionic Acidemia. 

Today, Ryan is thriving. She’s healthy, growing beautifully, and hitting all of her milestones right on time. She’s incredibly bright, curious, and full of joy.

Her current treatment plan includes Propimex-1, Pro-Phree, normal formula, carnitine, and biotin. We’re just about to start introducing purées. 

I would be lying if I said I don’t worry about the future. There are still so many unknowns. I worry about illness, protein intake, and hospitalization. I worry about her health declining. The future is unknown. It is scary.

We are incredibly thankful for the Newborn Screening test. Without it, we may not have discovered Ryan’s condition until it was too late. Because of this early detection, my beautiful baby girl has a better shot at thriving with this rare disorder—and for that, we will always be grateful. We hope to see advances with gene therapy in the future! 

We are also very thankful for the medical team and this community. Navigating this has been difficult, but being surrounded by a wonderful community helps immensely!

Ashley
overaveld@gmail.com
Canada

From the Summer 2025 OAA Newsletter