Case #34: Brendon
Symptomatic: A Medical Mystery Podcast
The episode follows the multi-generational struggle of Brendan and Keegan Paradis against a mysterious, unnamed retinal condition. After dec
Key takeaways
- Brendan Paradis suffered through years of failed treatments, including chemotherapy, before finding answers.
- The condition was eventually identified as ROSA syndrome, an ultra-rare autoinflammatory disease.
Main topics
- ROSA syndrome diagnosis
- ALPK1 genetic mutation
Notable quotes
I was the last person to admit that I was blind.
Conclusion
A moving story of how scientific persistence and patient advocacy can
Transcript preview
Speaker 4 (0:03) Ruby. My dad went to church that entire week and just sat in the pew, started praying that it not be what it is. Speaker 2 (0:20) Nobody could have predicted that all of these pieces fit under the one umbrella. Speaker 5 (0:27) I can remember a doctor telling me, there's nothing more I can do for you. Speaker 3 (0:35) Imagine your body being hijacked from within by an unseen assailant, determined to inflict pain, steal your independence, and slowly unravel your life. Even your doctors can't tell you why. You're trapped in a diagnostic maze, searching for answers while fighting to be believed. For millions living with chronic illness, this is reality. And this is the Medical Mystery Podcast, where patients become investigators. Survivors become advocates, extraordinary doctors become heroes, and every story has the power to help someone else find answers. I'm Lauren Bright Pacheco, and this is Symptomatic. Speaker 3 (1:28) Brendan Paradis is a gregarious, funny, and sentimental father of two. He is a sports fan, loves spending time with his family, and has had an impressive career working in finance. I Speaker 5 (1:41) remember being 18 and saying, I think I want to be a businessman. And now I chuckle at it because I don't know what a businessman Speaker 3 (1:49) is. But long before he set out on his career path, Brendan was born into a seemingly Halcyon life in 1970s New England. I Speaker 5 (1:59) grew up in a very small town just over the border in New Hampshire from Massachusetts called Nashua, New Hampshire. I grew up with my brother and my mother and father in this beautiful split ranch, and it was just the quintessential New England neighborhood. We were outdoors all the time with the neighborhood kids, never inside the house. Speaker 3 (2:23) It sounds like growing up in a Norman Rockwell painting. It was. But this idyllic scene was not immune to pain and heartbreak. How old were you when your dad got sick? Speaker 5 (2:35) I had just turned 11. You know, my parents were very guarded in what they let us in on initially, but we could tell just by their behavior. It was a pretty aggressive form of cancer. He had been a longtime smoker, but by the time Christmas rolled around, it was very apparent that he didn't have a ton of time left. He fought very, very hard. He loved his family very much, but unfortunately, he passed away May of 1988. Speaker 3 (3:04) I'm so sorry. Speaker 5 (3:06) Yeah, it was a difficult time. Speaker 3 (3:08) In 1994, Brendan graduated high school. It was time for him to leave New Hampshire and head down to Massachusetts for college. I Speaker 5 (3:16) went to Bentley University. It was a Speaker 3 (3:19) wonderful four Speaker 5 (3:19) years. As a matter of fact, my best friends are still my college friends. You build and forge relationships that will just never go away. Speaker 3 (3:27) Not only did Brendan make friendships that would last him a lifetime at Bentley, he also met the love of his life, his future wife, Andrea. Speaker 5 (3:35) The summer before my senior year, we decided to get a fraternity house. We all wanted to stay close instead of going home. So we ended up renting a house, but we needed people to pay the rent over the summer. So we settled on seven guys and seven girls in this probably 1,800 square foot house with three bedrooms. It Speaker 3 (4:02) sounds like a setup for a reality television show. Oh, Speaker 5 (4:06) well, I have to add, there was only one bathroom. Speaker 3 (4:08) Good Lord. Speaker 5 (4:09) That was the summer I met Andrea. Every weekend we would have a party. And so one night, July 19th, 1997, she just popped into my life. I can remember exactly what she was wearing. These jean overalls and this. I mean, bright white t-shirt and sneakers. And I can remember just thinking, wow, she was a stunner. I was very shy, so I was trying to figure out how to introduce myself in kind of a suave way, even though I was not suave. And I had gone up to her girlfriend, who I knew from college, and I kind of said, when's her birthday? And she said, her birthday is actually August 26th. And I said, no way. Well, mine is August 25th. So I just sat down next to her and... introduced myself, said, you know, you must be a Virgo. And she smiled. Oh, Speaker 3 (5:12) yes, I am. Desperate to build on this connection, Brendan came up with another creative way to keep the conversation going. My roommates and I decided Speaker 5 (5:22) that we needed a pet. So we had bought a hedgehog. Yes, a hedgehog. Speaker 5 (5:32) So I said, do you want to see my hedgehog? Now, looking back on that, that is probably not the best line at the end of the night. She was leaving, and I can remember one of my friends grabbing me and said, did you get her phone number? And I said, no, I didn't get it. So I ran out to the car, and I asked her for her phone number, and I can distinctly remember saying, I'm going to wait three days. I'm not going to come across too anxious. That was on Saturday. I made it to, I think, Monday. And I swear I picked up the phone to call her, and she was on the phone. Speaker 3 (6:15) No way. Yeah, she had called the exact same time. And the rest, as they say, is history. In 2001, Andrea and Brendan graduate from college and move into their first apartment together in Boston. Brendan is 24 years old, has landed a great job, and the future is looking very bright. But only one month into living together while driving to a restaurant, Brendan and Andrea notice that something might be wrong. Speaker 5 (6:44) We were out one night and she was giving me directions because at that time you didn't have GPS. And she told me to take the next left. And it was nighttime and I didn't see the left. I just didn't see it at all. And it's kind of like, oh, that's strange. She said, well, maybe it's best if you just go get your eyes checked. Speaker 3 (7:05) Tell me what happened when you went to get that vision test. The Speaker 5 (7:09) ophthalmologist wanted to have me read the charts, and then they dilated my eyes, and they took a look behind it. And it was strange because the doctor left the room, and then she came back, and she took another look, and she wasn't really saying anything. And then she left again. And a gentleman came in and he wanted Speaker 4 (7:32) to take a look at it. Speaker 5 (7:33) And that's when they told me they saw some inflammation and some leakage around the optic nerve and the retina. Speaker 3 (7:40) The retina is a layer of cells at the back of your eyeball that converts light into nerve signals. The optic nerve is the highway attached to the retina that sends those signals to your brain, where they become our sense of vision. Leakage is the term used to describe fluid that is escaping into the retina, an optic nerve. Speaker 5 (8:01) They Speaker 3 (8:01) said, Speaker 5 (8:02) don't want to get you concerned, but it could be a variety of different things. But one of the things we want to eliminate is a brain tumor or brain hemorrhage, which, of course, your mind just goes sideways. You Speaker 3 (8:14) went in for a standard eye exam and left thinking that you had a brain tumor? Good God. Speaker 5 (8:22) Yeah. So within an hour, I was on my way to get an MRI, and... Went home at probably 2 or 3 o'clock in the afternoon and was a basket case. It was the longest three hours until Landry got home. Speaker 3 (8:37) Brendan had gone from thinking maybe he just needs glasses to facing down the possibility of a brain tumor at just 24 years old. But when the results from the MRI came back, they show no signs of a brain tumor. Though there is an immense amount of relief with this news, He has now met with more questions. What is causing the leakage and can they stop it? I'm Speaker 5 (9:02) probably two or three times a week going in to see the neuro-ophthalmologist while they were trying to figure out what was going on. Speaker 3 (9:10) What kind of tests are they running? Speaker 5 (9:13) They did spinal taps, multiple MRIs, vision field tests, all kinds of different tests. I mean, blood tests. And I felt like a kind of a human pincushion and constantly in and out of appointments trying to figure out what was going on. I had a wonderful, wonderful doctor who was, you know, in it with me. He didn't know what it was. And he was. 100 % transparent and collaborative and open to ideas with his other doctors. Speaker 3 (9:44) And all the tests are coming back inconclusive or negative? Yeah, they Speaker 5 (9:49) would say things like, it looks like RP, which is retinitis pigmentosa, but Speaker 3 (9:55) it's not. RP is the name given to a diverse group of inherited eye disorders that affect the retina at the back of the eye. RP causes permanent changes to your vision, but the loss of Speaker 4 (10:07) sight is gradual over many years. But Speaker 3 (10:10) this wasn't the first time that you had heard of retinitis pigmentosa, was it? Your father had been diagnosed with RP also. Speaker 5 (10:20) Yeah. When I was eight or nine years old, we would start to get uncomfortable driving with him, and so he decided to give up driving. He would spill things, or he would drop things, or he would struggle with trying to find things. We kind of knew he had poor eyesight, but he wore glasses, and he could still see somewhat. They had diagnosed him with retinitis pigmentosa, which is a genetic disease. And so both my brother and I had actually been tested at Children's Hospital in Boston, and we came back negative for RP. And so, you know, thinking back to my father and his diagnosis, I would get tested again for RP and, nope, came back negative. Speaker 3 (11:11) Brendan's doctors were stumped. There was no clear and present answer to the source of the hemorrhaging, and the stakes increase every day. With every passing moment, this leakage was causing irreversible damage to Brendan's eyesight. Here to explain is Dr. Christina Kazicki. Speaker 2 (11:30) I'm formally trained in infectious diseases, but I work at an intersection space. So I think more about immune activation. To describe how folks lose vision, we think of at least three aspects that can compromise your vision. Speaker 4 (11:47) Early Speaker 2 (11:48) on, you have that big optic nerve that's there, and that can increase your blind spot. We all have a natural blind spot, but with that big optic nerve, you can have an enlarged blind spot. Another aspect can be the kind of uveitis, macular edema, where you can see that fluid in the retina. And then finally, what we think of it is the biggest problem, the irreversible piece, that retinal degeneration. If you have damage to the front of the eye, the cornea or the lens, you can replace that. But unfortunately, the back of the eye is not a place that we're able