Episode Details

The Dad's Perspective: A Son with a Rare Genetic Disease

So there is this rock star in the podcast world, and her name is Effie Parks. She hosts a podcast called Once Upon a Gene, inspired by her son who has a rare genetic disease. Effie really focuses on the idea that disability is diversity, and that is an idea I try to put into practice professionally as well as personally. Today, we are going to hear from Effie's husband. If you haven't yet, check out Effie's story. Then head back here to listen to Casey, Ford's amazing dad.

In this episode, we talk about…

[1:57] What it's like to be married to Effie Parks

Casey has nothing but positive things to say about his wife. She is effervescent, she is funny, and she can connect with anyone. When they discovered their son Ford's rare genetic disease, Effie had a new focus. Casey has really enjoyed watching her journey from a hair stylist to a podcaster and public speaker. Effie is so inspiring, and Casey is incredibly proud of her.

[4:59] Learning about their son's differences

Casey thinks he and Effie had very different experiences during this time in their lives. He describes his response as having "blinders on" when they started noticing some differences with Ford. He has an optimistic streak, and he convinced himself that everything was going to be fine.

At four months old, Ford was diagnosed with failure to thrive and they gave him a feeding tube. Casey thought he would put on a few pounds and hit his milestones. A doctor told Effie that Ford had microcephaly, and a nurse made some offhand comments in that appointment that scared her. Casey wanted to get another opinion. He had his blinders on, and Effie was experiencing the flip side. Even though she is all about finding the joy and happiness in life, at that point she was seeing the dark things in what they were saying.

[8:53] Coping with learning about Ford's disability

While it, admittedly, wasn't the healthiest coping strategy, Casey focused on work. He asked the doctors about the long-term effects of Ford's condition and the chance that they were wrong. Casey was not convinced there were going to be long-term issues, until Ford was diagnosed with CTNNB1 at 16 months old. CTNNB1 is the deletion of a gene that prevents him from creating beta-catenin, a type of protein. It has resulted in global disabilities. Ford cannot sit up on his own, he does not walk, and he does not talk.

Once they gave Ford this diagnosis, the doctors shared with Casey and Effie the singular study they had on CTNNB1 syndrome. There were around 32 known patients in the world, and they weren't able to get a lot of information about it. Knowing that, Casey decided to see how Ford developed. Somewhere along the way, he became comfortable with the fact that Ford is Ford. Casey has watched him and has processed the things he is able to do and the things he is not able to do, without focusing on the loss of the things he cannot do.

[12:15] Casey's favorite parts about being Ford's dad

First, Ford has an unbelievable laugh. It is such a pure expression of joy. If you check out Effie's podcast, Once Upon a Gene, his belly laughing is included in every episode. Casey says that the joy in his eyes and face matches his amazing laugh. Tickling is a favorite activity, and seeing other people happy can bring that out in Ford as well.

[16:17] What they want medical care teams to know about Ford's condition

Casey and Effie need to make sure Ford's medical team is aware of all the different components of his medical chart. He sees a lot of different specialists and they all have extremely important information that the team as a whole n