Beginners Guide to Rare Disease – Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio
Daniel DeFabio and I are having a parent-to-parent discussion and bringing you guidance if you are a newly diagnosed family. We’ll give you insight into our journeys, things that helped us along the way and ways we learned to cope and find hope. If you’re a beginner and new in the club no one wants to be in, start here- this episode is for you.
EPISODE HIGHLIGHTS
On diagnosis day, what are the important things to notice and what life lines should be sought out right away?
Realize that no matter how bad the diagnosis is, you’re going to live it and live through it and there’s no way of escaping it. The only way out is through. It helps to find other people and seek community once you have a diagnosis and they will have experience and advice to help you.
Did you feel like you needed to seek out other families and dads?
Rather quickly, I put Lucas’ story out there in the world to find others. There was a Yahoo group for menkes families that is now a Facebook group. I turned to this group like a life raft for a source of hope, comfort and information. As soon as I found the population facing the same disease as my son, I knew there would be answers, but those answers weren’t predictive. Don’t stop looking until you find the answers you’re looking for. The bond and support you will receive from others with a similar experience is like you may not find elsewhere.
What opened your eyes to not comparing, letting go of expectations and forging ahead?
It was clear to me that there was no choice. You take care of your kid, even when you’re dealt a life-altering and unexpected thing. It required a different approach, but it was still a parent approach of providing what my child needed. The stages of grief apply to diagnosis, not just death. You let go of the fictional character of your child you thought you were going to have. You need to go through the stages, so read about them, prepare for what will happen and know they won’t happen once or in order.
If you are new to the club and have questions, we’re happy to help guide you and share resources to help you.
LINKS AND RESOURCES MENTIONED
https://www.thedisordercollection.com/
https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH
https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel
Disorder Rare Disease Films Youtube
https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ
Menkes’ Families Facebook Group
https://www.facebook.com/groups/180082535351472/
TUNE INTO THE ONCE UPON A GENE PODCAST
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
https://www.stitcher.com/podcast/once-upon-a-gene
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
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