ONCE UPON A GENE - EPISODE 134

The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease

Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening.

EPISODE HIGHLIGHTS

Where does your diagnosis journey begin?

Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was flagged for Pompe Disease and they were doing further testing. We met with the genetic counselor and learned Grant had the infantile onset form of Pompe Disease, which is the most severe form. Because he was diagnosed through newborn screening, he was able to receive his first infusion at three weeks old and never had a symptom of the disease before treatment. Today, he's doing really well.

What is the current treatment for Pompe Disease?

An infusion takes about 5 hours and Grant receives them once a week. He will receive his 55th infusion this week and will have them for the rest of his life, or until another treatment becomes available. 

What questions do you get from your older son and how do you address them?

We've always been honest with Connor, but not gone into much detail. He knows Grant needs medicine every week to keep him healthy. He hasn't asked a lot of questions, but he's starting to understand that everyone has different needs. For example, we've talked about how Connor has Hemophilia, so we have compared how he bruises easily and Grant doesn't. 

What is it like integrating with the Pompe Disease community with a child who was diagnosed through newborn screening with immediate treatment options?

There are other kids who were diagnosed through newborn screening, but had symptoms right away. The Pompe Disease community is amazing and I've connected with amazing parents who have given me the hope I've needed in the past year. 

What are your plans for advocacy?

We're in the beginning stages of starting a foundation to raise awareness, help with fundraising efforts for Pompe research, and help families who need assistance getting to see a specialist. International Pompe Day is April 15th and we hope to share more by then.

LINKS & RESOURCES MENTIONED

Seattle Rare Disease Fair

www.rarediseasefair.com

ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

https://effieparks.com/podcast/episode-119-kathryn-alexander

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