Maddie McNeer and Her Mom Loren - Raising Awareness About Coats Disease

Lindsey Smith: Hi, I'm Lindsey Smith, welcoming you to the Raise the Line podcast with Osmosis from Elsevier, an ongoing exploration about how to improve health and healthcare.

Our Year of the Zebra initiative was created by Osmosis co-founder Shiv Gaglani to shine a light on those with rare diseases, also referred to as zebras. He was taught in medical school when you hear hoofbeats to think of horses and not zebras. This way of thinking means to think of the most common disorder and not rare disorders or rare disease conditions.

This past year, we launched the Year of the Zebra initiative that aimed to educate millions of current and future healthcare professionals, caregivers, researchers, patients, family members and the general public about these zebra conditions. In 2023, we marked the 40th anniversary of the Orphan Drug Act, a milestone that brought hope to hundreds of millions of people worldwide affected by rare disorders.

To shed light on these rare disorders, Osmosis and Elsevier are a key part of the Zebra Initiative. Osmosis and Elsevier have jointly created a weekly newsletter, which has now received over one million learners subscribing to it on a monthly basis and growing, featuring a zebra condition each week. We've also opened an open access journal called Rare, and we've launched an Elsevier Health Hub, a comprehensive resource that serves as a one-stop shop for highlighting rare diseases, journal articles, and personal stories. 

We have a special episode today in our Year of the Zebra series. I'm overjoyed to welcome Maddie McNeer and her mom, Loren McNeer, who are going to help us learn about Coats disease, which is characterized by abnormal development of blood vessels in the retina.

According to the National Organization for Rare Disorders, affected individuals may experience loss of vision due to changes in the retina and, in severe cases, retinal detachment. I'm sure Maddie will tell us more about this in just a few minutes. There are no known causes.

Since Maddie's journey with Coats disease began when she was three, she has undergone over thirteen surgical procedures, but despite these challenges, she has managed to lead an active life, which we're looking forward to learning lots more about today. 

Thank you so much for being with us, Maddie and Loren, and welcome to the show. 

Loren McNeer: Thank you.

Maddie McNeer: Thank you. 

Lindsey: And I should note that Maddie is also the first kid that we have had on the show, so it's an extra special episode for us today. To get us started, Loren, I want to see if you can kind of take us back to when you first noticed a problem with Maddie and what helped lead to this diagnosis.

Loren: Yeah. I'm a teacher, so I'm with her in the summer. At about two-and-a-half years old, we noticed that when she was watching TV or anything that was farther away, she had a hard time focusing and her left eye would drift out. So, we tried to get her in to see an optometrist, thinking that maybe she just had a lazy eye and just needed to be patched before she went to preschool or kindergarten later on. We're very blessed that we have a children's hospital twenty minutes away. It took about eight weeks to get her in and right before her third birthday, we had an appointment. 

They were looking at her eyes, explaining that she can't focus in that eye. Within five minutes of one optometrist looking at her eye, you could just tell she was like, “I'll be right back.” And she left. And, you know, it's never good when one doctor leaves and they come back with multiple doctors.

So then two more optometrists came in and they all looked at her. At that point, they were just saying, “We are very concerned. We don't even know if your daughter can see out of her eye. We see a white dot. It's possibly cancer.” So, as soon as they said that, I lost it because it was so unexpected. I just thought we were going to be told, “Hey, just patch her eye for a couple of months and she'll move on.” And then we were being told, “You need to go to the downtown Children's Mercy because she needs to be put under for an MRI for cancer.” So, it was just kind of a whirlwind. 

Lindsey: Thank you for that background, Loren. So, I want to turn over to you, Maddie, and I want to understand a little bit more about you as a person before we get into your presentation. I just want to know what you like to do for fun. Any hobbies? Are you an athlete like your mom? Tell me what you like to do for fun. 

Maddie: Well, I am kind of like an athlete. I do gymnastics and basketball. I also play soccer and I like to cook and bake. I also like dinosaurs. I like swimming and I also like to go to the zoo.

Loren: What have you been doing recently since you got a keyboard for Christmas? 

Maddie: I've been playing. 

Loren: And writing what? 

Maddie: Songs for it. 

Lindsey: Oh, my gosh. Wow. That's incredible, Maddie. I hope to hear one of your songs at some point. You'll have to have your mom post it or send it to us. That's really amazing. Maddie, I want to know if you can take us through your Coats disease presentation that you gave in school. You can share screens and walk us through that. Does that sound okay? 

Maddie: Yes. I've never shared screens before. 

Loren: Well, I could do it for your girlfriend. Don't you worry. All right, Maddie, take it away.

Maddie: Coats disease is where when I was born, my blood vessels didn't close all the way. So, that makes leaking come into my eye.

Loren: What are some things that Coats disease makes harder for you? 

Maddie: It makes it harder for me to see in dark rooms. I fall a lot and sometimes it's blurry. And sometimes my eyes do something kind of crazy. Whenever I blink, my right eye will just go blurry. 

I've been to three different cities. I've been to Kansas city, Chicago and Detroit. 

Loren: For all your surgeries? 

Maddie: Yes. And we've recently found out that Detroit is the best place to go because I have doctors that are trained by the best, Dr. Trese. My favorite thing is my doctor was Dr. Trese's son. 

Loren: And what is so incredibly awesome about the ARC (Associated Retinal Consultants) in Detroit with Dr. Trese’s son now taking over your case? What did his dad do?

Maddie: His dad found the first cure for Coats disease. 

Loren: Well, remember there's no cure for Coats, but he's the first doctor to pioneer all the procedures for Coats disease. His son is now taking over her case. We also had Dr. Drenser, who was trained by Dr. Trese.

Loren: Yes. So we're very blessed to be there with all those awesome doctors. What about these pictures?

Maddie: So. I've had a vitrectomy, laser surgery and cryo. I like playing basketball, building things with my daddy. I like dinosaurs. I like going to the zoo. Coats disease won't hold me down. 

Loren: Can you say a little bit more excited than that?

Maddie: Coats disease won’t hold me down! I like baking, cooking, gymnastics, and soccer.

Loren: What do you like to do a lot with daddy…with briskets and chickens and ribs? What do you do with daddy a lot? 

Maddie: I like to grill stuff. 

Loren: Grill and smoke meats. She's really, really good at that. 

Lindsey: Wow. Maddie, that was amazing. Thank you for taking us through that presentation. It sounds like you are just thriving in so many different areas like sports and cooking and going to the zoo and piano playing, as well. So, that that's incredible. 

I want to come back to one of your things that you mentioned Maddie in your presentation. It sounds like Dr. Trese might be one of your favorite doctors. At Osmosis, our company, we help train future doctors and clinicians so I wanted to know if you could tell us why Dr. Trese maybe is so good, or maybe any of your nurses that you've had or other doctors that you've had.  I'm sure you've had some good ones along the way. Why are they so good, Maddie? What do they do that kind of helps you?

Maddie: So, at Children’s Mercy. I really like two nurses. Nurse Maddie and Alex, and they're pediatric nurses, so that means they work with kids and they're my favorite. 

Loren: Why were they your favorite? Why did you love nurse Maddie? How did she make you feel in pre-op before you went back to the OR and everything?

Maddie: She made me feel safe and calm. We found out there was a medicine there that tends to make me wild! 

Loren: Yeah. Well, you don't take the pink princess medicine anymore before a procedure. 

Lindsey: So, you've learned a lot about along the way, which is amazing. And Maddie, how are you feeling today?

Maddie: I feel good. 

Loren: Let’s tell them about your big news. So, we had a doctor appointment on December 21st, a one month post-op appointment from your second vitrectomy where you had multiple folds in your retina, fluid, aneurysms were going on. It was a very unexpected surgery.

We were under the impression we would just have laser and an injection. Once they did her scans, everybody was -- even the doctors -- were shocked at the state of her eye, and so we had a two hour procedure. It was pretty invasive. And what did our results show one month later, Maddie?

Maddie: One month later, they show no fluid. 

Loren: How much fluid? 

Maddie: Zero! Zip! None!

Lindsey: Wow. 

Loren: Yeah. We've never had that in her three, four years of diagnosis. She's always had fluid. 

Maddie: Unexpected means it was the best to happen. 

Loren: That's right. 

Lindsey: That's exactly right. What amazing news. That's like the ultimate Christmas present, I think. Let's go back just a little bit. One question for you, Loren. What are next steps at this point now that you've gotten that great news? 

Loren: So, we were going every six weeks down to Kansas city to our doctor. With it being so rare, as you guys know, we don't have a lot of options so we're going to be looking at a lot of options in the U S right now. Her primary care has been in Kansas city. And then they pretty much told us after her ninth surgery, you know, we've done all we can and referred us to Detroit, for Dr. Trese and Dr. Drenser, which have been the best thing ever for us, because that's what they do. They do retina for pediatrics. So now, we just are seen every three months in Kansas city and are in contact with our doctors at the ARC. If fluid returns, we will decide if we'll go back to Detroit to have more scans and a possible procedure. 

So, now it's kind of just a waiting game and if all goes well, we'll just keep going three months and three more months and three more months, and then hopefully we'll become stable. The hope is one time a year with surgery and then one every five years and just the less surgeries we can have the better. 

Maddie: Yep. 

Loren: And a cure. We're praying for a cure every night. 

Maddie: Last year, I had like four surgeries in Detroit. 

Loren: You had three, but we got to go to the beach for the first time ever because you didn't have a surgery during the summer. 

Maddie: Yep.

Lindsey: That's really a nice add-on, the beach. I love the beach. Did you make sandcastles and splash around Maddie? 

Maddie: I tried to make a sandcastle, but it wouldn't work. We were eating snacks on the beach. They were kettle chips but they had sand in them. 

Lindsey: Uh oh. That happens sometimes. I think that happens a lot at the beach, actually.

Maddie: Yep. 

Loren: What else did you see at that special restaurant? What was there swimming around? 

Maddie: We went to a buffet and there was a mermaid! 

Lindsey: Mermaids? Wow! That sounds really, really amazing. Maddie. I want to ask your mom a couple more questions, Maddie, and then we're going to wrap it up. You are doing just amazing over there. 

So, Loren, a lot of times when we talk to parents of children with rare diseases, we really find that they become the experts. They're in it every single day. They're researching everything. They're looking for new cutting edge treatments and things like that. I'm assuming that has likely been your experience as well, and so I'd love for you to comment on that and then also talk to us about the Coats disease community. Have you met other people in the city? Have you met other people in the same space? 

Loren: So, yeah, I mean, as soon as you get news like this, you take like a nosedive into the internet and just try to figure out everything. That's why I love what you guys are doing because when it does come to rare diseases, there's not a lot of information and a lot of support out there. So, Maddie's been like the number one advocate for her own education. That's my other big thing is we've kind of let her lead us on her journey.  I invited her into being the expert.

One thing I want to say is if you have a child with a rare disease or a child that goes under a lot of procedures, they are the expert in the OR room.  Maddie's been in thirteen procedures and been put under about sixteen times since she was three. Since she's gotten older, she knows what's happening and so we let her lead in the pre-op room now. She tells the nurse, “I want you to do my blood pressure now. I want you to do my IV. I want you to do my eye drops later. I want you to come back. I don't want to ride the bed into the OR, I want my daddy to carry me. I want my blanket with me.” And Maddie even puts the mask on herself to put herself to sleep now, because that just is comfortable for her.

So, we've kind of made her the number one in her diagnosis where she tells everybody what would make her most comfortable going into procedures. So, inviting your kid in and allowing them to run the show has made all the difference on how she goes back into the OR for us. 

Maddie: And I just want to say Detroit is the best place to go because they're really good professionals there. They allow them to bring stuff like animals, blankets…whatever they feel comfortable with and they'll also let them bring a parent to feel safe. 

Loren: Yeah, they do. It's awesome. 

Lindsey: It sounds like an incredible place and I love that you've really let her kind of call the shots as she's gotten older and that has made all the difference for you guys. So, how can people get more involved, Loren, from your perspective, from a parent's perspective? 

Loren: There's only one organization right now for Coats disease. You can go to curecoats.org.  It's the Jack McGovern Coats Disease Foundation. It was actually started by a family member because their son was diagnosed with Coats disease and we are very active in that group. It's through Facebook. You can donate through that. There's an advocate out of Nashville who holds some benefits through the Jack McGovern Foundation that we've been invited to. 

I would just say it's just hard because there's not as much research behind this yet and only one foundation. So our primary goal is just to just spread awareness about this rare disease so that other families “know the glow” when it happens. Let me explain that. Once she got diagnosed, we went back through photos and we noticed a glow in her eye. I always do a post around Halloween for parents that says take a picture of your child in their Halloween costume at night, because if you use a flash and one eye glows gold, that's a sign of something wrong. 

Maddie had that and we just thought it was red eye. We just didn't even put the dots together until we looked back after her diagnosis and realized she's had it her entire life. We just thought it was something wrong with the camera angle. So, I feel it’s important to just step up and spread awareness ourselves, and really share all the information the foundation has. 

Maddie's well known in my school building, because she will tell everybody about Coats disease…anybody in the grocery store, she's always spreading awareness. We're very proud of her and how much she's accomplished. 

Maddie: Mommy?

Loren: Yes?

Maddie: I want to tell the principal that maybe she can make the whole school donate stuff to the hospital for kids because they don't have anything to do there. 

Loren: That's a good idea. We can do that. 

Maddie: I want there to be awareness so the whole school knows about Coats disease and how other kids have to be in hospitals if they have something wrong with their eye. I’ve been to hospitals a lot and I’m like, “This is boring. There’s nothing to do here.”

Lindsey: That's a really good idea, Maddie. I love that…coming up with little activity kits for the hospital sounds like a really nice, nice thing to do. If you get your school behind this, Maddie, I want to know about it because we want to definitely participate if we can. 

Here's my last question to both of you guys. This will be our grand finale here. What do you wish future doctors knew about Coats disease and your experience? 

Maddie: I would think that would be really, really great if they could help find a cure for Coats disease. And I want to be a future doctor someday. I want to be a nurse like nurse Maddie and nurse Alex.

Loren: These nurses, I tell you, they have a lot of weight on these kids' lives. Nurses change everything, even for parents. We've had so many nurses -- she doesn't know this -- but nurses cry with us when she's gone back and everything. 

Maddie: Mommy freaked out and cried for literally two hours every day they did the procedure. 

Loren: Yeah. In terms of having parental support -- it depends on the disease obviously -- but I found there's only two Facebook groups on Coats disease and there's always people answering questions. We haven't found anybody around us who has Coats disease, but it's a good sounding board before procedures. For example, some people have never had cryotherapy, so we could show them a picture of Maddie to let parents know you're going to be shocked because their eyes are going to swell up the size of a golf ball and we were not expecting that.

Maddie: A golfball!?

Loren: Or we need to share our experiences with our doctors. We have a lot of doctor talk. Like, if you're in certain areas, what doctors do you see. So I feel like it's good and it's bad that it's a rare disease. I feel like we're a really small community, so someone's always going to answer your question, honestly, because we know how rare it is and how there's not a lot of resources.

But because it is so rare, I feel like there's not a lot of money and everything towards research and finding a cure. So that's what's hard because that's our wish too, is that one day there is a cure or medical technology continues to advance the way we treat diseases is really narrowly managed at the rate it is because in other countries they're right now doing retina transplants. None have been successful, but they're working on that because her retina is detached at this point. So, her vision was 22/50 in that eye, which is blind. But it's just kind of a waiting game to see if her retina needs to be reattached, if that would help or not. 

Lindsey: You are just a real life superhero and we are so thankful that you and your mom have joined us today. We have learned so much about Coats disease and we're eager to cheer you on through this, Maddie, and also hopefully see you as a future health care provider when you get a little bit older, whether that's a nurse or a doctor. I think sometimes patients make the best health care providers as well. Thanks, Maddie. Thanks, Loren. 

Maddie: Thank you. 

Loren: Thank you. We love your message and what you all are doing.

Lindsey: I'm Lindsey Smith. Thank you so much for checking out the show today. Remember to do your part to raise the line and strengthen the health care system. We are all in this together.