Description

Today's episode comes with a bit of a warning, as this one might tug at your heartstrings a little harder than usual. I hope you'll join me as Amanda Beedle shares her journey with her two little girls.

Amanda's daughters, Annabelle and Abigail, were both diagnosed at an early age with an extremely rare genetic disorder called Batten disease. It's so rare that, on average, only 20 children are born each year in the U.S. with this disorder.

Before Annabelle's 4th birthday, she had her first seizure. And then they noticed some coordination and language problems. In December of 2020, both of her girls were diagnosed with Batten disease.

For those that haven't heard of Batten disease, there are 13 different types. The main issue is that it causes the body to not produce an enzyme that gets rid of cellular waste. Over time, children slowly lose their ability to walk, talk and eat. There is only one treatment available, which involves injecting a synthetic enzyme directly into their brain, every 2 weeks. Even with this treatment, their life expectancy is still only 6-12 years.

Amanda shares hopeful and inspiring messages about navigating her daughters' treatments (which they will need for life), choosing joy in their journey, and the importance of community.

You can also follow their story on their Facebook page, Beedles Braving Batten.

Key Takeaways with Amanda Beedle

• How normal and peaceful her pregnancies and deliveries were, for both of her girls.
• Only 20 cases of Batten disease are diagnosed each year, and there was only a 25% chance that her second child would also be diagnosed.
• Navigating the recurring doctor appointments, treatments, and everyday care with a lighter heart, especially on the harder days.
• The importance of accepting help from your community, and how showing up in small ways can make a huge difference.
• You can only control the things within your control.
• Find ways to smile on the journey, it will all come together in the end.
• Learning to celebrate the achievements that make sense for your family, instead of the more traditional milestones.

Show Notes:

Get Full Access to the Show Notes by visiting: MatteasJoy.org/22.

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