A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

Episode Description

ONCE UPON A GENE - EPISODE 214

Anne Rugari is an advocating powerhouse, an author of two children's books, a mom, and two of her children have passed away from Krabbe disease. She joins us to share her personal story and also share her knowledge about tissue and organ donation.

EPISODE HIGHLIGHTS

Can you share how you became part of the rare disease world?

In 1986, my second child Nick received a diagnosis of Krabbe disease, or globoid cell leukodystrophy, a terminal disease that took him just after his first birthday. I also had a three year old son who was unaffected and we decided we probably wouldn't have another child with a rare disease if we wanted more children. In 1999, my daughter Gina was born and tested for Krabbe disease, confident the odds were with us. Unfortunately, she tested positive. As a result of an umbilical cord blood transplant she had at three weeks old, she did remarkably well and lived to fifteen years old.

What were your considerations when deciding to donate Gina's brain for research?

It's an emotional, practical and religious decision. There are so many factors that play into the decision. For me personally, I wanted to make sure I was making a sound decision morally and spiritually. I felt we weren't going to learn more about the disease unless there were human tissues and samples to study. It was a decision I felt strongly about to help others. There's a source of comfort knowing that the tissues donated are being used to move research forward.

Why is it important to consider and arrange tissue donation in advance?

It's emotional and you don't want to be making those decisions at a time when you've lost them. There's also some coordination that needs to be planned, ensuring there's a pathologist available at the hospital for the retrieval. Planning in advance allows you time to coordinate the details, like if passing takes place at home instead of the hospital, and notifying the funeral home so they can coordinate with the pathologist. Getting the logistics organized in advance makes the transition when someone passes away easier. Discuss plans in advance with your care team so they can help with arrangements and support you.

LINKS AND RESOURCES MENTIONED

⁠ONCE UPON A GENE - EPISODE 213 - Finding Strength In Every Step⁠

⁠https://effieparks.com/podcast/episode-213-finding-strength-in-every-step⁠

⁠ONCE UPON A GENE - EPISODE 198 - Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody⁠

⁠https://effieparks.com/podcast/episode-198-advocating-with-heart⁠

⁠Courageous Parents Network ⁠

⁠https://courageousparentsnetwork.org/⁠

⁠Anne Rugari Website⁠

⁠https://www.annerugari.com/⁠

⁠Just Like Me!: A Book About A Girl with a Rare Disease⁠

⁠https://www.amazon.com/Just-Like-Me-about-Disease/dp/0982218710⁠

⁠Just Like Me Too!⁠