Welcome to the All About Audiology podcast. I’m your host, Dr. Lilach Saperstein and today I have with me Madeline Cheney from Utah, who is also the creator and host of the Rare Life podcast, which is a podcast for parents whose children have rare disorders. And we are very excited to have Madeline with us.

LS: “Welcome, Madeline!”

Madeline: “Thank you so much. I’m so happy to be here.”

LS: “And I’m so happy to have you on the show because one of the things that we have not talked about yet so much is children who are deaf plus, or have multiple things going on and challenges in different areas. It can be medical concerns, social concerns, all these other things where hearing loss may or may not be at the top of the list of priorities for themselves and their families. So, I think this is a very important population, a very important topic, and I’m really excited to chat with you today.”

MC: “Thank you. I have a lot of passion about this topic since his (my son) hearing loss is a really big part of who he is in our life since he’s been born and so I’m really excited to talk about this.”

LS: “Alright, so why don’t you start by telling us a little bit about yourself and a little bit about your inspiration, your little kiddo?”

MC: “Yeah. So, I live with my husband and my four year old daughter, that’s Kimball’s big sister. And she is completely typical in every sense of the word. In fact, she was even advanced in her language skills. And then Kimball is our almost two year old and he is our little special guy with a lot of different disabilities. And so, we have been dealing with that since, well really he was pre-diagnosed when I was pregnant with him. And so, that really, when he was 20 weeks gestation, that is when this roller coaster started, and we’ve learned a lot since then. I feel like a whole different person now.”

LS: “Yeah, yeah, absolutely. And I think that’s such an important point to mention that it really changes everything. It doesn’t just effect the child and what their life is going to be like, but it changes the parents’ life. And that, obviously, even when you know about it in utero, and sometimes you have more time, sometimes that’s better, and sometimes that’s more challenging. So, what was that like for you guys when you had that time?”

MC: “So, because we knew pretty far in advance before he was born that he had this issue, his specific condition, it has a really long name that no one’s heard of. So, I’m going to spare you but it is a form of skeletal dysplasia, which basically means issue with his bone formation. So, there are birth defects that were related to that. And so, we were given warning about different things like he has an unstable cervical spine, which basically means that the vertebrae in his spine are not fully hardened, and so it doesn’t protect his spinal cord from compression, which would lead to paralysis or death. So, like that was something we knew was on the table that’s associated with it. We also knew from ultrasounds that he did not have a nose bone forming. And so, he has a really narrow nasal airway. So, we knew a few things like that. But there was very little known. He also has dwarfism, which we were also able to see, that was one of the red flags we saw is that his limbs were measuring shorter for his gestational age.