02/02/2026
🦓 Happy Rare Disease Month 🦓
Francesca and I are “celebrating”appropriately with another whirlwind 24 hour trip to New Jersey for her AEP/clinical trial doctor appointment. I’ll have a longer update about all things clinical trial/FDA related soon.
While these appointments have gotten easier over the years, they are never easy. And living with a rare disease definitely is not.
Recently, Francesca also went through a day of neuropsychological testing. This testing helps provide a comprehensive understanding and measurement of cognitive, behavioral and emotional processing. In other words, it measures and evaluates how her brain works. It will help us identify and understand areas where she may be struggling, and how we can better support her. We will get the results next week and will do the same testing with Amelia soon.
This month I will be sharing posts from the Galactosemia Foundation with information and ways you can celebrate Rare Disease Month and support our community. As a grassroots, volunteer led organization (Hi, it’s me! I’m one of the volunteers!) We count on the generosity of family, friends and other advocates to help us fund research, education and networking opportunities for our community!
And of course, planning for 2026 Glow for Galactosemia is in the works and spam…errrr, I mean information, will be coming soon. It will be one way you can support rare disease month (or if you’d rather, you can always buy a zebra suit!) 🦓🦓
