RARE Daily

Help for Rare Disease Patients That’s Just a Click Away

June 22, 2023

Mary Morlino knows what it’s like to search for information and resources for a loved one with a rare disease or yourself. She had two nephews who were diagnosed with the rare neuromuscular disease Becker muscular dystrophy and later she was diagnosed with the rare autoimmune condition sarcoidosis. She now performs that search for information and resources professionally, so others don’t have to do so. Today, Morlino serves as Global Genes’ RARE Concierge Patient Services manager. The service serves as an entry point for patients, caregivers, patient advocates, and other rare disease stakeholders in search of information, resources, and connections. We spoke to Morlino about her own rare disease journey, the work she’s doing as part of Global Genes’ RARE Concierge program, and the need she is addressing.

Daniel Levine: Mary, thanks for joining us.

Mary Morlino: Thank you for having me. I’m really looking forward to the opportunity to share some information with you.

Daniel Levine: We’re going to talk about Global Genes’ service, Rare Concierge; how patients, caregivers and healthcare providers use this service; and what it does for people. Before we do that though, I thought it would be useful to start with your own journey in the world of rare diseases, which I think highlights a lot of the changes in the way people connect today and can access information. You had two nephews diagnosed with Becker’s muscular dystrophy in 1998, at the age of 12 and 13. What was the family told about the condition when they were diagnosed?

Mary Morlino: That’s a great question. We really weren’t given a lot of information at that time. After getting the genetic testing done, we were basically told to work with your primary care physician and contact the MDA, Muscular Dystrophy Association. There really wasn’t a lot of feedback about what to do, so that’s what led us to investigating and doing some research on our own.

Daniel Levine: What treatment options, if any, existed at the time?

Mary Morlino: There really wasn’t any, it was more just try to keep them safe and watch the progression and stay on top of it. Unfortunately, there wasn’t a lot of treatments available.

Daniel Levine: This was at a time when the internet was new. The Orphan Drug Act had been around for a little more than a decade. And as you mentioned, you had an advocacy group that was present and active. What was the landscape like for finding information and connecting with other families at the time?

Mary Morlino: Well, fortunately at that time, one of my sisters was dating a rheumatologist. So, he was able to connect us to some information and people that we could talk to. And at that time, my sister, who was the mother of these children, was just trying to wrap her brain around the whole concept and was not in a position really to reach out to others. She just wanted to take care of her boys as best she could.

Daniel Levine: Did you go to the library or look for information that way?

Mary Morlino: Well, you know, it’s a little tricky because I did some internet searching and research as much as I can, but it’s a difficult thing because sometimes when you’re looking at the information, it’s really scary and it’s difficult to share that information because my sister’s processing this news and we wanted to protect the boys, but also we were kind of filtering the information of what we could all handle. Actually, it was let’s gather as much information as we can, learn what we can, and share it as needed, or as the capacity of my sister allowed.

Daniel Levine: Fast forward to 2007 and you became a patient with a rare disease in search of a diagnosis. What happened to you?

Mary Morlino: Yeah, my story was really interesting. I collapsed basically at my sister’s. I was visiting another sister. I have three total. So, I was visiting my sister in LA and I collapsed at her house and I came to with my sister and the EMTs in the doorway. I thought I had possibly had food poisoning, so I went to the bathroom and that’s the last thing I remember. I ended up spending a week in the hospital getting all kinds of tests, and they had no answers for me. They just said, something happened with your heart, we don’t know what it is, what caused it. And they sent me home and it was uncomfortable because that time, as I said, I was visiting my sister and I said, I have to fly back to Switzerland with my young children. They were seven and nine at that time. And the doctors said, well, you know what? We’ll give you a Valium, you’ll be fine. And I was very uncomfortable with that, but what option did I have? I knew I needed to get back home. I needed to get my kids back home. And it was very disconcerting to think, okay, I don’t know what’s happening and I don’t know if it’s going to happen again. So anyway, I went back home and the next day I couldn’t climb a flight of stairs without feeling like I was going to pass out. So, I ended up dropping my kids off with a friend and dropping myself to the emergency room. Spent a week in that hospital, lots of tests, still no answers. They sent me home the next day. I could barely get out of bed. My husband at the time took me to a different hospital and that’s where they told me I needed a pacemaker. And mind you, this was in Switzerland and they were speaking French. This is almost amusing because I’m trying to communicate with them in French and I’m trying to explain, no, you don’t understand because a pacemaker in English is a device for old people, and I was 41 and healthy. So, that was an interesting conversation. I ended up being in that hospital for another week, got the pacemaker and continued my life. I recovered from that and had to modify some of my behavior and activities, but basically recovered and I was okay for a while. And then we moved back to the United States in 2011 and got a new team of cardiologists and pulmonologists and we went and did a lot of testing, couldn’t still figure out what was wrong with me or wrong with my heart. And so, we were on that path again of trying to find what caused it. At the same time, we had figured out a way to deal with the situation of my heart. So, the pacemaker was working, so I ended up going and getting a lung biopsy, and that’s when they told me I had sarcoidosis, cardiac sarcoidosis. And of course I had never heard of that disease before. And within a week they had upgraded my pacemaker to a bi-ventricular pacemaker defibrillator because of this diagnosis, and thankfully they did because six months later I had a cardiac arrest in my kitchen. Had it not been for that diagnosis, I would not have qualified to get a defibrillator. And if I didn’t get that defibrillator, I would’ve died in my kitchen with my 15 year old daughter watching and experiencing that and having that as her life experience.

Daniel Levine: For a listener not familiar with sarcoidosis, briefly, what is it?

Mary Morlino: Sarcoidosis is a systemic disease, which basically means it can affect any system in your body. And it’s an immune response where your body is attacking itself, similar to autoimmune, but they are still doing more research on it. And basically, what happens is groups of cells are collecting in your body as an immune response. And these groups of cells are called granulomas, and these granulomas attach to your body in whatever system they choose to go in. And when they are part of that in the system, they block the blood flow and the functioning of those organs. And with me, it was mostly in my heart, so it did irreversible damage to my heart. It severed my AV node, which is the communication center from the top of the heart to the bottom of the heart. So, I am 99 percent dependent on my pacemaker. So, these granulomas basically went into my heart and blocked the blood flow and damaged it. It’s irreversible. And because it took that long to get the diagnosis, there was significant damage to my heart. Had I been diagnosed when I first collapsed, or at any point before that seven year diagnostic odyssey, the disease progression would’ve been very different. And I might have a better quality of health. A lot of things like the expense, the many different aspects of how this disease affected my life would’ve been vastly different. And that’s part of the reason why I’m so passionate and committed to the rare disease community is because when I really understood how important a diagnosis is, then it really motivated me to do something about it and to try to prevent other people from going through a similar experience.

Daniel Levine: I take it in looking for information about your new diagnosis, it was a somewhat different world than it was when you went looking for information about your nephew’s diagnosis. What did you do to find out about the disease?

Mary Morlino: Oh, of course I googled it. So, I googled it and it brought me to the Foundation for Sarcoidosis Research. And I explored everything they had on their website. I looked at medical research, I dug deep because I just wanted to learn as much as I could. And it was a bit frightening to tell you the truth because cardiac sarcoidosis is rare within the rare, so sarcoidosis is a rare disease affecting, as I said, any part of the body. But the people who have cardiac sarcoidosis, that’s only 5 percent of the sarcoidosis patients who have it in their heart. So it was even rarer. And the initial research that I did told me that I had about five years to live and that was really terrifying to be honest. And so I just kept digging. I’m like, there has to be something else. There must be something I can do. So, connecting with the Foundation for Sarcoidosis Research was great. They had great information and I was able to connect with other people who had this disease and learn about it from them. And yeah, I just kept digging and learning as much as I could about the disease and how I could, you know, theoretically be the best patient in the land. What do I need to do to try to get past that five year mark?

Daniel Levine: All this was as background on who you are and the experiences you had for what you’re doing today. What is your role at Global Genes with Rare Concierge?

Mary Morlino: I am the Rare Concierge patient service manager. Basically, I oversee the inquiries that come into Global Genes from patients, patient advocates, caregivers, and whoever has questions about their disease or their rare disease space. And I respond to them and I provide the information, resources and connection to the people who reach out to us. And I do other things within Global Genes, sharing my patient experience and the work I have done, and the knowledge I have from that experience.

Daniel Levine: For listeners not familiar with the service, can you explain what exactly it does and the range of questions that might be directed towards the program?

Mary Morlino: Absolutely. It’s really easy to access. This is a free program and it’s basically a free service that you can access through the website. You go into the website and you click on Connect and you go to patient services. There’s a form that people can fill out that asks you some basic questions and provides a free field for you to be able to elaborate a little bit more on what your situation is. And you send that in and it comes to me and I triage these responses based on what the priorities might be, if it needs immediate attention, or if it needs escalation because some of the questions that come in are more complex and beyond my experience, so I escalate those to my coworkers, the other people on my team. But getting back to the “what we cover,” you can ask us anything and we outline some of the areas that we can provide resources to. So, it’s anything from financial resources, or how to navigate disability clinical trials, how to get genetic testing, how to start a patient advocacy group, where to get mental health support. I mean, the whole gamut, whatever it happens to be. And this is available to anyone, and it even includes people who are undiagnosed because that population really has a lot of questions and they’re looking and searching for answers. So, we cover the whole gamut of where people are on their rare disease experience from the very beginning and also to the point where sometimes people get that initial information and they’re good for a while, and then they contact us and they’re like, you know what? I want to do more advocacy. How do I get involved in legislative advocacy? I can guide them on that. I’m ready to be part of research, how do I find clinical studies? Where can I learn more about this and participate? Or how can I support my patient organization to help them get research ready? So, wherever people are on that spectrum, on that continuum of their lived experience with rare disease, we have resources, information, and connection that we can provide and support people throughout that process. One of the biggest things, which I’m sure a lot of your people will understand, having a rare disease can be very lonely and it can be very scary. And we like to provide support for people and keep that open door. So, if you have a question now, or even if you don’t have a question right now, it’s helpful, I think, for people to know that we are there, we are there to support you and help you on your journey. Whatever it is you happen to need, let us know. And I’m a strong believer in no dead ends. If you have a question, if I don’t have the answer and I tap into the other people at Global Genes and I tap into my internal resources and the external ones that I collect, I’m still going to do my best to get you closer to the answer that you need or that connection that you need.

Daniel Levine: Is there any special training people who work in Rare Concierge received?

Mary Morlino: That’s a good question for myself. Although my education and training was in sports medicine and athletic training, which I do not participate in anymore, I consider my life experience as a rare disease patient, an active advocate in the legislative space, and also the founder of MarylandRare to be extremely helpful. My own experiences have brought me a wealth of knowledge that I want to share to help improve the experiences for other people. I have a little bit of physiology background and so, I understand some of that. And I also did a lot of teaching and coaching, so I have that type of experience, but my coworkers on the team for the patient services team: one is a bilingual genetic counselor and another one is a geneticist. As I had mentioned before, when I get cases or questions that are too involved and beyond my scope, I share with them so they could bring their expertise and knowledge into this space to be able to respond to those questions, because there’s a lot of genetic questions and that’s a little bit out of my realm and I have no problem sharing that with somebody else, for them to give the accurate, helpful information that they need.

Daniel Levine: You mentioned that this is a free service, is it available to anyone, anywhere?

Mary Morlino: Yes, anyone, anywhere, and you can access it through the website. You could also email careaboutrare@global genes.org. And a lot of times when I’m at different functions in the rare disease space, and actually throughout my life, if people have some questions, they can let me know, give me their email address, and I can connect them to a way for us to be able to put them, in theory, into the system for us to be able to provide an answer to those questions. So, it’s available to anyone. Our main focus is usually the patient, patient organization, caregivers, care providers. We do get healthcare providers asking questions, so yeah, anybody can ask.

Daniel Levine: And how far is its reach? How many different countries have you served patients in and do you do this only in English?

Mary Morlino: Well, last year we had 44 different countries reach out to us and this year we’re already at 46 and it’s only May. And as I mentioned before, one of my colleagues is bilingual with Spanish, so that helps a great deal. I have some French background, which does help somewhat. Other than that, we are looking into options for interpretation and providing translations for people. Right now we’re trying to build out the system and be able to provide that, but mostly everything is done in English, to be straightforward with you. It’d be great if we could find a way to provide all languages, but it’s a heavy lift at this point. And we’re looking into it to see what we could possibly do.

Daniel Levine: I know you address questions from people at all stages of the rare disease journey, but I’m curious if you can give some sense on the types of questions that are most common.

Mary Morlino: Yeah, good question. Well, one of the things that we do with the program is we collect a lot of data and in that if somebody reaches out to us, are they male or female? And what is their disease? And you know, what are they asking for, what are they inquiring about? And we collect this information to help us inform what the needs are of the community and make sure that we have those resources. And if we don’t, then we go find them and we collect them and have that. So when people reach out to us, it’s really very informative. Just kind of take the pulse of the community and it can change throughout the year. So, I would still say the biggest one is financial resources—the financial impact of living with a rare disease in your family or as an individual is very significant. Between insurance and the inability to work, the challenges of living with a rare disease or being a caregiver, the financial impacts are very widespread. So, financial resources is big, as is disability information, a lot of it is connecting to people. I get people all the time just saying, I just got diagnosed with this disease, I don’t know anything about it. What can you do? A lot of the questions are that simple and basic, like they just are reaching out and trying to get some help. So, connection a lot for clinical studies and research. What’s the newest news in my disease space? Mental health has been a big one recently and I’m just really happy to see that people are asking for that support.

Daniel Levine: I think people would expect you to be getting questions from caregivers and patients. I think people may be surprised that about 10 percent of the inquiries come from healthcare professionals. What types of information are they seeking?

Mary Morlino: I think it’s great actually that we do have healthcare professionals reaching out because it’s really impossible for them to be able to have all the information for the over 10,000 rare diseases that are out there. So if they have that ability to reach out and ask for help, I think that shows a lot of integrity in those healthcare providers. And sometimes they don’t know what information they might need for their patients. And so sometimes it’s, “are there patient organizations for this patient, theirs?” And a lot of times the healthcare providers are looking for additional support for their patients and to learn more and to understand what it is that Global Genes can provide for their patients. So, we do get a lot of that. Sometimes the healthcare providers are so focused on identifying the disease and finding the treatments that they don’t have the additional information that they might need to have more comprehensive care or be more aware of what is out there that can support their patients.

Daniel Levine: Do you ever get unusual requests, anything that surprised you?

Mary Morlino: Yeah, I guess part of me feels like nothing would surprise me anymore. I think the inquiries that have really the most impact for me are those people who are at this point of desperation. And I’ve had inquiries where people have reached out and all they’ve said is, I need help. Please help me, please help my child. And that is sad, it’s really heartbreaking to know that these people are in such a horrible place that they’re just casting out this wide net for help because some of the information is not available, or especially for rare diseases, it can be one person has this disease, it could be two, it could be hundreds, but when you get these diseases that are ultra rare and there’s really not a lot of research, I would say it’s not so surprising but it is notable and it’s just difficult for these people. And my heart breaks for them all the time.

Daniel Levine: Are there a couple of examples you can offer on how the service helped people?

Mary Morlino: Sure. There’s one that was great. We had somebody who reached out to us and they had been in the rare disease space for a while, but they were in the undiagnosed space, I should say. And this was a caregiver who was taking care of their child. They had done genetic testing, but they had just wanted to know if there was anything else available. And they connected with my coworker who’s a genetic counselor. And after speaking and connecting with them over time, they were able to learn more about each other, and find out what it is that they were seeking. And this person actually ended up participating in the patient advocacy summit. That was last year. And after the summit my coworker had given advice about, “well, have you had your genetic testing redone?” A lot of people don’t know that they could do that, that if they had genetic testing, if it was a long time ago, a lot of the technology has changed. So, it was helpful information to know that you can retest or you can revisit your genetic tests because there are variants of unknown significance. And there may be progress that scientists and researchers have made that might be able to give more information. So, that was basically what happened. She encouraged her to retest and after that they got a diagnosis, which they hadn’t been able to get beforehand. And so it’s great to see that the information, the education that we can provide helps to provide better access to care and a diagnosis. So, that one was great. And I’ve had other ones where I had someone who wrote back to me after she had asked questions and they had said that they had been living with this condition for over 30 years and having regular treatment, but they had never received any new information in 30 years. So much has changed with science and technology and how much we’ve learned. And this person, they weren’t receiving that. So she was so grateful to be able to have new information to work with and to share with her doctors. And I always encourage people to continue working with their care team, their doctors, and to share the information I’ve given them because sometimes it’s hard to find the information. So, that was another one that was great. We’ve had a lot and it’s nice to know that people have been able to connect and improve their lived experience, their daily life, just to get that information and also so that people know that there’s this out there that care and can support them and that they are not alone. I feel it’s really important for people to understand that.

Daniel Levine: Global Genes has been putting an increasing emphasis on health equity issues. What’s being done to reach underserved communities with the service.

Mary Morlino: Well, that’s one of our main focuses this year along with mental health and research readiness. The other one is equity, and it’s been a really big topic area of understanding that we have been doing a lot of work in for the past couple years. And we have some new things coming up, but some of them I’m looking forward to being discussed at the health equity forum that’s right before the summit this year. And we are working with other partners to make sure that we are doing our best work and supporting the work they’re doing to help improve access for the underserved. We’ve been working with the RDDC for a program called “Know Your Family History.” And so we have that going on. There are other projects we are working on, or as my coworker would say, we have a lot of things cooking, so we’re learning a lot and we’re providing, well for my end, there’s a lot of resources that I’ve been able to gather to provide for people that they may not be aware of, but there’s a lot of things cooking and I’m looking forward to some of those that we’ll be discussing and working with the health equity forum that’s coming up in September.

Daniel Levine: Beyond that, what’s in store for the program over the next year? What’s being done to expand it?

Mary Morlino: We’re working on, let’s see, making sure that we can provide this service to as many people as possible. We’re building out the resources, the accessibility, the structure of it because as many things now, does it scale? And we are making sure that it does scale because the further we reach out, the more we learn about the rare disease community and their needs. So, we are doing a lot of internal work with making sure that our operational functions of the program are working as well as working on reaching those communities that are underserved, whether it’s people who are rural and have difficulty accessing information. That’s one of the things that we are focusing on. And basically, we’re trying to grow it and make sure that people know that we are there for them because there’s a lot of people that still need support. And so we have some outreach planned for coming up and we’re looking forward to expanding and solidifying the program and what we can provide for people.

Daniel Levine: Mary Melino, rare concierge patient Services manager for Global Genes. Mary, thanks so much for your time today. Hold on. Sorry.

Mary Morlino: Thank you so much for the opportunity and thank you for what you’re doing. I’ve been listening to your podcast since I was first diagnosed as well, so I know that you provide great service and information for the community and I thank you for that.

This transcript has been edited for clarity and readability.


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