Accessibility Advocate Cory Lee on Traveling the World as a Wheelchair User

Episode Transcript

Dr. Daniel Correa:
From the American Academy of Neurology, I'm Dr. Daniel Correa. This is the Brain and Life Podcast.
We're well into the summer now and many people are going to travel, take some vacations. I'm sure everyone is thinking about the challenges of travel, managing the airport, getting back and forth to the airport, train stations. Oh, and then there's that traffic that people encounter. This last Memorial Day a lot of people enjoyed their time, but there were a lot of plane cancellations and people who had difficulties figuring out even how to just get their luggage from one place to another.
Imagine, all these challenges are heightened even more when someone lives with a disability. Cory Lee has been an amazing advocate for accessibility and travel, and himself an example to many on how they too can explore and access the world around us. He shows us that with some curiosity, a healthy dose of patience and ingenuity, you can move past many of those barriers and start to explore and enjoy the things around us.
Now, I also would love to point out that it's June, and June is Alzheimer's and Brain Awareness Month. Please get a chance to go back and check out our episode with an individual living with Alzheimer's disease, Greg O'Brien, and three episodes of family members of people living with different types of cognitive disorders or dementia, Lauren Miller Rogan, a major advocate for Alzheimer's, talks about her experience with her mother, Michelle Boyaner, who also shares her experience with her mother in an amazing documentary that she both directed and produced, and our beautiful caregiving story with Kitty Eisele, who also started her own podcast but shares her story of caring for and loving and supporting her father. Coming up on June 22nd, we'll have an episode with Ashley Brooks, a community member living with myasthenia. This will be our second episode on myasthenia gravis, so make sure to check out our past episode.
Welcome back to the Brain and Life Podcast. Today I'm looking forward to talking to Cory Lee. Cory Lee is joining us from Georgia, he's a travel writer and accessibility advocate. At age two, he was diagnosed with a medical condition we call spinal muscular atrophy type 2. He and his family pushed forward to make sure that he would not be limited by this condition to travel and see many other perspectives. Since age four, he's had a powered wheelchair and has been venturing far beyond his home and across the United States and internationally.
Through his award-winning website, travel blog and writing, he shares his experiences and tricks for travel and various mobility challenges with the community. He has moved his work forward, also starting his own foundation to support other wheelchair users, The Curb Free Foundation. You may have seen him on CBS News, National Geographic, Forbes, and along with other countless interviews. We are glad to have him here joining us on the podcast. Thank you, Cory, so much.

Cory Lee:
Yeah, thank you so much for having me. I'm really excited to be on this podcast with you, so thanks.

Dr. Daniel Correa:
Cory, take us back to your youth with spinal muscular atrophy and the strength and mobility limitations that you had. What was your experience working with medical providers to help figuring out the adaptations you needed?

Cory Lee:
Yeah. I was diagnosed at the age of two with spinal muscular atrophy. My mom really started noticing before I was diagnosed that I would take a few steps, eight steps is the most that I ever took, and I would just faceplant the ground every time. She started getting really concerned and decided to take me to a neurologist, where they did a muscle biopsy. From that muscle biopsy at the age of two, they discovered that I did have spinal muscular atrophy type 2.
With SMA, I don't know how much everyone listening knows about it, but basically it means overall muscle weakness. It is degenerative also, so I do get weaker as I age and get older. I don't have the same abilities today that I had when I was two years old, for example. I have gotten weaker over time. That's something that I has really I guess pushed me to get out there into the world and enjoy as much of it as I can now while I'm more able than I will be 10 years from now or five years from now even. It's just a constant motivator for me to travel.

Dr. Daniel Correa:
And just embrace all the time that you do have, that's great.

Cory Lee:
Oh yeah, absolutely.

Dr. Daniel Correa:
Was this a condition that your family had some experience with? Was there someone else that you knew or your parents knew?

Cory Lee:
Yeah, it is genetic. My great-great-aunts and uncles, there were 13 siblings in the family and out of those 13 siblings four of them had spinal muscular atrophy actually and used a wheelchair. That was way before I was born, but they were actually gospel singers and they were known as The Wheelchair Singers. You can look them up, they have videos on YouTube of their music and stuff, it's really amazing. But they lived in a time before the ADA was even a thing. They would tour around the southeastern US and they became pretty popular. They would have to be physically carried into the churches to perform because there was no such thing as a ramp at that time. It was a huge struggle for them.
Growing up and hearing about them and all of the struggles that they faced, but they were still very successful with their musical careers despite having SMA, way before the ADA came into play, it really inspired me and taught me from an early age, I think, that anything is possible I think if you have the right mindset and enough determination.

Dr. Daniel Correa:
That's amazing to have such an encouraging model within your own family.

Cory Lee:
Yeah.

Dr. Daniel Correa:
Yeah, they were out there and traveling and inspiring even before you were born.

Cory Lee:
Oh yeah, absolutely. Their story is one that's something really incredible to me, even to this day. I'll frequently go on YouTube and just play their music just to become re-motivated. It's needed sometimes.

Dr. Daniel Correa:
Then as you were growing up, were there other providers aside from the pediatric neurologist that you saw that helped you work with adaptations and through your development as your body changed?

Cory Lee:
I did have physical therapy and occupational therapy growing up. I would meet with them weekly and we would work out with them. I also went to pool therapy with the PT, and so we would swim around. I can still do that somewhat, it's just really good exercise and allows me to stretch out and move. But aside from that, I lived a pretty relatively normal childhood I think. I started using a powered wheelchair at the age of four. When I went to school, to pre-K, I was already in a power wheelchair at that time. I never really grew up knowing what it would be like to live the difference or to live without a wheelchair, being a wheelchair user or someone with a disability.
That I think shifted my mindset from an early age, from that first day of school to already be in a wheelchair and be used to that throughout my entire school career. I also went to school with pretty much the same classmates from pre-K onward. A lot of them were very helpful and they would get my lunch tray, help me fix lunch. They would jump on the back of my wheelchair and let me ride them down the hallways and at recess. It was a pretty normal childhood, I think, even as a wheelchair user at a young age.

Dr. Daniel Correa:
Did your parents do any specific things or helpful things that really helped you learn how to advocate for yourself and your needs in the different settings?

Cory Lee:
Yeah. I was raised by my mom, she was a single parent since I was four years old. One thing that would happen every year, whenever I would be going into the next grade level in school the principal and the school administrators would want to have a meeting with my mom and I. They would every year try to talk her into putting me into the special education classes just because I used a wheelchair. Every single year, until the time that I graduated high school, it was a fight to really leave me in those mainstream classes just like all of my peers. Just watching her really advocate for me in that regard from an early age, it definitely made me more of an advocate, I believe.

Dr. Daniel Correa:
Cory, how was it for you when you were transitioning in high school and college into adulthood and becoming more independent and thinking about setting yourself up for living on your own?

Cory Lee:
Yeah. In high school I was really motivated to go to college, first of all, and also to go to one that wasn't so close to home that I could just come home every day. I really wanted that independence, I'm getting out of high school. I decided to move from Georgia to Washington, DC to the George Washington University, and that's where I started my college career. I moved away and really that first year, it was a struggle constantly with navigating, I think, caregivers. That was really my biggest issue, relying on someone else, like a caregiver, to be there on time to help get me out of the bed, to give me a shower, get me ready for the day, help me get to class, put me to bed at night. All that goes into that role as a caregiver was a huge learning curve for me as someone that grew up in a very small town in Georgia from a single mom.
That was a drastic difference, but I'm really thankful that that did happen. It did inspire me to get out there, see the world on my own a little bit. I ended up graduating from a college in Georgia, but it was still a few hours away from where I grew up and where my mom lived. Just having that independence I think right after high school was really crucial.

Dr. Daniel Correa:
Is there something you think that parents of other children with either neurodegenerative conditions, like spinal muscular atrophy, or other significant mobility limitations that they should think about or might help them in making them feel a little bit more confident in supporting their child in making that transition?

Cory Lee:
Yeah. I think as a parent it's going to be tremendously difficult to release those reins and let your kid that has a disability go out on their own, but I think that it's just so crucial and you've got to know that at the end of the day you've raised them to be independent and strong-willed. I think if you just keep that in the back of your mind and know that you've done the best you can but you've got to let them go at some point, that definitely will help.

Dr. Daniel Correa:
You did a degree in college in marketing, but what really made you start to make that transition about thinking about writing about travel and for the community with mobility issues?

Cory Lee:
Yeah. There were actually two instances that brought me to the career that I'm in now, in accessible travel. The first one, I was about six months away from graduating college and I was starting to apply to different jobs and put in applications, I was not getting any kind of response, no interviews at all, but then finally, one day, a company in Pittsburgh, Pennsylvania called me and they said that if I could fly up to Pittsburgh the very next day that they wanted to interview me for this job in marketing. They covered the flights, I was so excited just to have this chance.
I flew to Pittsburgh the next day and when I rolled into the hiring manager's office, he looked me up and down and the first words out of his mouth, he said, "Well, this job involves some traveling, so you're definitely not the best fit." At that point I realized that he only saw my wheelchair and he didn't even see me as a person. That was really discouraging. On the flight back home I was crying, really dismayed, and I didn't really know what the future held for me in terms of getting a job in marketing.
Around that same time, in that same week, I was also researching for an upcoming trip to Australia. I got online and was trying to find out what are some accessible things that I can do in Australia, what are some accessible hotels, transportation, and I was having a really difficult time finding any sort of accessible travel information within Australia. Between the hiring manager telling me that I couldn't travel and then there being a lack of information online, those two things happening within that same week, it inspired me to start curbfreewithcorylee.com and launch a travel blog. I really just wanted to create it to show other wheelchair users around the world what's possible and how they can travel in a wheelchair and live their best life.

Dr. Daniel Correa:
It's wild. Even though they told you last minute to travel there, get there for an interview, you even got there and then you came in and all he really saw was the wheelchair and not the fact that you were able to coordinate all of that travel in such a short time.

Cory Lee:
Yeah. Traveling as a wheelchair user, especially flying, it comes with so many obstacles. We're dreading is our wheelchair going to get damaged during flight and having to dehydrate and starve so that we don't have to use the bathroom on an airplane. There's a lot that went into that flight for me to go to Pittsburgh. To go through all of that and then be immediately met with a no and not even given a chance, it was really disheartening. I'm really thankful in the end that everything worked out the way that it did.

Dr. Daniel Correa:
I'm also glad that you found your way to help others. You mentioned a few of the common challenges people might have if they're wheelchair users, but what are some others? You mentioned having to adjust your diet and hydration and the issues with getting your chair there safely and not damaged.

Cory Lee:
Yeah, yeah. There are a plethora of things that could go wrong, I think, and probably will go wrong at some point if you're going to be traveling as a wheelchair user. One of the things that I always worry about first is transportation. Once I'm actually in the destination, how am I going to get around that city? Before I even book flights or hotels or research accessible things to do within the destination, I always look up accessible transportation options within that destination just to see, once I get there, are there going to be wheelchair-accessible taxis? Is the public transportation system accessible, like buses and trains and subways? That's always where I start with my planning process. Then if they do have accessible transportation, then I can dive into the more fun stuff as far as research goes, like accessible things to do or hotel options.

Dr. Daniel Correa:
Earlier you mentioned the ADA, the Americans Disabilities Act. That's a law in the United States that is supposed to help establish both access to infrastructure and to public places and allow access to things like public transportation. How consistent do you find that traveling around the United States?

Cory Lee:
There are definitely some places that are a lot better than others. Some of the cities in the US that are doing a phenomenal job are Washington, DC, the metro system is fully accessible and all of the museums are accessible, but then there are also places, like I went to Maine last year, on coastal Maine, smaller beach towns, and in those smaller beach communities a lot of the shops and restaurants that I wanted to go to were completely inaccessible. Despite the ADA being created 33 years ago, it drastically needs updated, I believe. Well, I think we need to hold businesses more accountable when they are not following those ADA guidelines.
If anyone is listening and you come across a business that is not accessible, just simply asking them if they have a portable ramp or if they've ever thought about buying a portable ramp for wheelchair users to use, that is so helpful, because in a lot of those smaller towns they mean well, but they just haven't even thought about accessibility, it hasn't even crossed their mind yet. I think that if we just confront it and address the issue that we can really get a long way if we all work together.

Dr. Daniel Correa:
You've been researching countries around the world and traveling there. Are there similar laws and efforts like the ADA everywhere or vary a lot between countries?

Cory Lee:
It definitely varies a lot, it really just depends on the country. But I think that when we're talking about rules and regulations when it comes to the ADA, some countries that don't have any kind of ADA of their own or any law around accessibility, they often do a better job than the countries that do have existing laws. When a hotel in the US tells me, "Oh yeah, we're ADA compliant," to me that means that they're only doing the bare minimum because they have to, it's required so they're going to do it, but in other countries like Finland, or all of the Scandinavian countries, Estonia, Sweden, Denmark, and a lot of those places in Europe, they may not have the laws around accessibility, but they truly do care about their citizens with disabilities and they want equality for everyone in their communities.
They may be more accessible than even the US. I really do not believe that the US is the most accessible country in the world. I think that preconceived notion that people have is that, well, as long as we travel in the US, everything will be accessible and they just assume that they can't travel in other countries, but a lot of other countries really do a much better job than we do.

Dr. Daniel Correa:
I hope we can learn some more from these broadly inclusive countries that are thinking less about specific requirements for just a certain limitation and much more about how do we increase accessibility for everyone and across the board.

Cory Lee:
Right, yeah. Finland, when I went there several years ago, they do a phenomenal job. That was a destination that I really never thought would be possible for me to visit as a wheelchair user, but when I got to Finland, they actually have over 300 wheelchair accessible taxis. Every mode of public transportation is wheelchair accessible and every shop or restaurant that I wanted to go into was completely accessible. That's just one example of a place that's really getting it right in an international destination. I was heavily impressed.

Dr. Daniel Correa:
Great to know for all of our listeners. Cory, you mentioned before you have to predict that something is going to happen. Are there essential travel items that help you when things aren't exactly going to work out right for you?

Cory Lee:
Definitely have travel insurance, that's my number one go to. If you are looking into travel insurance, definitely get one that covers preexisting medical conditions just so you'll be covered in any scenario. Especially now with COVID and the pandemic and all that has happened over the past few years, I think travel insurance is more crucial than ever. But also I think just really doing your research ahead of time and planning out as much of the trip as you can in advance before you go can really make you have a much better time once you actually get there.

Dr. Daniel Correa:
Do you tend to travel with a partner, a family member?

Cory Lee:
Yeah, I do always have to travel with a companion. I do need help with getting into bed, getting showered, driver if we have a rental van. I do always travel with someone. I think for wheelchair users that's another issue, is how do I cover myself as a person with a disability but also a caregiver. That's a big reason why I launched The Curb Free Foundation last year, in February of 2022 I launched it. With The Curb Free Foundation, we give out travel grants and travel scholarships to wheelchair users so that they can take their dream trip. If anyone is listening and has always dreamed of going to a destination, they can simply go to thecurbfreefoundation.com and fill out an application. We would cover all expenses for them and their caregivers for a trip if they're chosen by our committee. That's a huge reason why I wanted to launch that foundation, just because I know it is a lot more expensive to travel as someone with a disability,

Dr. Daniel Correa:
That's an amazing opportunity that you're offering to the community. To even help someone who has been dreaming on getting out and doing these trips but just doesn't even know where to start, your website and the travel blog can be a major resource. Then if finances are a major barrier, something like your foundation, that would be so essential and really help people get an opportunity to get out there.

Cory Lee:
Yeah, thanks so much. I really hope that we can get a lot of people out there traveling this year. We just sent our first ever winner for The Curb Free Foundation on their trip this past December. Yeah, it's been an incredible journey.

Dr. Daniel Correa:
I hope that you've inspired and help people feel like it's possible. Please go out and check The Curb Free Foundation if you're looking at needing some resources for planning your trip and if you need some financial support or travel grant or scholarship. Thank you so much, Cory, for joining us.

Cory Lee:
Yeah, thank you. It's been a pleasure chatting with you, so thank you so much.

Dr. Daniel Correa:
The American Brain Foundation is the American Academy's philanthropic partner. To learn more about how you can help make a difference, please visit americanbrainfoundation.org. The American Brain Foundation believes that when we can cure one disease, we will cure many.
Welcome back from that great discussion with Cory Lee. I'm now joined by friend and colleague, Dr. Leslie Delfiner. She's a pediatric neurologist, both at the Children's Hospital at the Montefiore Medical Center, helping support both our adult and child neurology programs in the neuromuscular clinic at our center. She's a dedicated champion for each and every one of her patients and their families and works with many families living with spinal muscular atrophy. Thank you again, Leslie, for joining us.

Dr. Leslie Delfiner:
Thank you for having me.

Dr. Daniel Correa:
Let's start at the beginning. We got a chance to meet and talk with Cory Lee, he's been a champion for mobility and more awareness for SMA, but help us understand, what is SMA, or spinal muscular atrophy?

Dr. Leslie Delfiner:
Spinal muscular atrophy is a genetic disorder that is neurodegenerative and causes progressive weakness over time. The weakness that we speak about with SMA includes things like body muscles causing weakness of the arms and legs and axial muscles, problems with swallowing, problems with breathing. There are different forms of SMA in terms of the severity and age at which it presents. Most people affected by SMA are diagnosed early in life, even in infancy with the more severe onset forms. Other people are diagnosed later in life with weakness that emerges as they become older.
As a rule, it is a progressive disorder. Until a few years ago, our treatments were limited to supportive modalities, where we could help people engage with life and breathe better and have more adaptive equipment, but now, with disease-modifying therapies and disease changing and disease course changing therapies, the natural history of the disorder has moved into a post-treatment era and people are living life quite differently.

Dr. Daniel Correa:
That's great to hear. You mentioned the terms neurodegenerative and progressive, what do those mean for different neurologic disorders?

Dr. Leslie Delfiner:
When we talk about progressive it doesn't necessarily mean the same thing for every patient. The rule of thumb with spinal muscular atrophy prior to treatment, the age or era of treatment, is that the weakness may not be apparent at birth, usually is not apparent at birth, but once it starts to emerge, whether that's an infancy with the more severe type 1 SMA or later in childhood with type 3 SMA, once the weakness emerges it gets worse over time. A child who is born without any signs of weakness or difficulty may in the first few weeks or months of life start having weakness in their ability to cry, weakness in the ability to swallow and loss of movement, whereas somebody with the later onset form may attain the ability to walk or obtain the ability to walk and over time lose that ability. SMA, prior to the era of treatment, was a disorder of loss.

Dr. Daniel Correa:
Cory had symptoms as a young child, over the years has been able to continue his development but has had increasing weakness over time. He uses an electronic and motorized wheelchair. Is that the typical course for all patients with SMA? How are they different from the ages that they start?

Dr. Leslie Delfiner:
It's a great question and it applies even in the era of treatment, where we can't necessarily stop progression of disease but slow it down for people who have developed weakness. Now, rate of change is not something that is going to be the same for every person, even within categories of disease severity. We speak about type 1 SMA as being severe and early onset, type 3 or type 4 SMA being later in onset, but those aren't just one thing. Not every infant affected by type 1 SMA will look the same and will not necessarily change at the same rate. Type 3 SMA, type 4 SMA is an even broader category. This is a real challenge for people living with SMA, and families caring for a child with SMA, and doctors.
As much as we know a lot more about SMA than we do with other disorders and we have decades of natural history experience, it's impossible to tell a family exactly what will happen. Now that we have treatments available that crystal ball becomes a lot more optimistic, but even a little bit foggier because each patient is going to be different. In the case of somebody with type 3 or childhood-onset SMA, we may see them walking in childhood and having more difficulty over time walking upstairs and then as they become an adolescent or young adult lose the ability to walk, whereas another person with type 3 SMA may lose that ability quite quickly. The range is really quite broad.

Dr. Daniel Correa:
There are different types, as you described. Generally is the numbers that we see in the population about the same for the different types, or are they different for people showing up in infancy and in childhood as opposed to the adult and the adolescent types?

Dr. Leslie Delfiner:
It's a terrific question. The majority of patients affected by SMA, and when I say SMA, I mean spinal muscular atrophy related to the chromosomal location 5Q, not other disorders that include SMA hidden in the title, the most common form is type 1, the early onset and more severe form. This is one of the inspirations and motivations for states across the country putting SMA on the newborn screening program, because we know that most children with SMA are going to have the earlier onset forms and we know that by treating before symptoms start or as early into life as possible, we obtain truly impressive outcomes and the best possible outcomes.

Dr. Daniel Correa:
You mentioned that the type 1, the early onset in infancy that thankfully now we're including in the newborn screening, is the most common, but when you say common, what's the general numbers of impact in our communities?

Dr. Leslie Delfiner:
If we take a step back from that, I think the most powerful question we can ask ourselves is what's the carrier frequency. SMA has an impressively high, and sometimes surprisingly high, incidence of carrier frequency in the population. Depending on where in the world you hail from, somewhere about one out of every 60 people, in some populations maybe it's one in a hundred, one in 90, other populations, one in 40 or 50, but carrier frequency, meaning that you don't have the disorder itself but you do harbor on one copy of the gene the change in the gene that could lead to having an infant affected by SMA if the partner who you're having a child with is similarly affected by carrier status. This is one of the reasons we are so proactive about speaking about SMA in the community, because knowledge is power and we can offer prenatal young adult-based carrier screening so that people can learn more about their health history and their family health history essentially.
When we see infants with type 1 SMA being born, the number I cited before in terms of incidence is what we have based on natural history and birth studies. As there have been changes in public health, access to care, prenatal genetic testing and screening, we are starting to see some shifts in those numbers. I think that our understanding of the epidemiology is going to change over time, because birth practices and life planning practices and family planning are changing over time. Those numbers that I've stated are based on the data that we have available based on decades of research in the past.

Dr. Daniel Correa:
What you're telling me raises important questions I think about the whole family planning discussion. If a family that either their child has SMA or they have known history in their family, how do they find out what is the general risk and likelihood of another child in their family having SMA?

Dr. Leslie Delfiner:
It's so important. I think the first thing to recognize is that every loving family has different views on these issues, and as a medical community we respect and admire and work with every loving family in terms of what their views and practices and comfort levels are. Screening is available for adults to find out if they are a carrier of SMA, whether or not they have a family history of it. In fact, as part of routine prenatal care to discuss these things, just like there are other disorders that are offered to be screened for prenatally.
When a diagnosis is made in a family of SMA, spinal muscular atrophy, part of the neurologist's and geneticist's role is to speak with the family about what that means. Most commonly, that means that both parents would be carriers. We offer screening for that and we talk about what that means for the future. Once there is a family unit or life unit where both parents are carriers of SMA, for each individual pregnancy there will be a 25% risk of a child being born affected by SMA. That's important for us to know because some families may choose to have that impact their approach to family planning, whether or not they would work with reproductive endocrinologists, whether or not they would continue with spontaneous pregnancies. Every loving family would have a different approach, but every loving family has a right to obtain as much knowledge as possible so they can make an informed decision that they're comfortable with.

Dr. Daniel Correa:
What are some things that people should be aware of when they need to go to the hospital and maybe make sure they're touching base with a physician who understands their condition?

Dr. Leslie Delfiner:
Thank you for touching on my favorite topic. I am a huge believer in emergency preparedness, not because I'm a nervous Nelly, but because emergency preparedness makes everybody feel more comfortable. Emergencies and medical issues arise for anybody, whether or not you have SMA or no medical history. Being able to focus on the emergency at hand means having your health background easily accessible to you so that if an emergency or medical complication were to happen, you're not spending time struggling how to communicate information about your health background to your medical team. You can focus on whatever the issue is, whether it's a broken arm, god forbid, or something like that.
I encourage our patients and families to keep a kit available, a letter that I provide that can be used when going into an emergency room that says the name of their disorder, how to contact the key pliers on their team, for example, for SMA that would be me, their neuromuscular clinician, their pulmonologist, their primary care provider, and important information that would help a medical team that may not have experience with that disorder get through the first 10 minutes, information about anesthesia safety, information about how to handle a respiratory emergency and somebody with a problem with their muscles that makes their ventilation weak. The idea is that a family can focus on the emergency at hand, gathering what they need, and, without having to panic or worry, pass on information about how emergency room providers or EMS can contact the people they need to who know those patients best.
I also encourage families to have a list of equipment that they would need to bring with them in case of an emergency. Many hospitals, despite their ultimate ability to care for patients and provide what they need, may have different resources available than the hospital that you're used to going to for your care, the medical office. If a person affected by SMA has equipment like a cough assist machine, which is an airway clearance device that may not routinely be available, it's nice to have a list of check marks to know, if I'm going into an ambulance or if I'm driving to an ER, what should I bring with me. You can feel a lot more comfortable as a patient and as a family member of a patient knowing that you're ready to go.

Dr. Daniel Correa:
Those are amazing resource tips for everybody, especially anyone with a significant or progressive muscular condition and many other medical conditions. Now, SMA has truly been on the forefront of medical treatments with several now approved gene therapies in the United States. What can you tell us about some of these medications and when they are used?

Dr. Leslie Delfiner:
It's so exciting to see how quickly things have changed. The first approved therapy for spinal muscular atrophy was nusinersen, a medication that's given intrathecally, which means injected into the spinal fluid via a lumbar puncture. The intention is to boost production of the protein that is lacking in SMA, the survivor motor neuron protein. It's an effective treatment that can be given throughout the lifespan, from infancy, at birth, all the way through adulthood. It is a medication that requires maintenance. It is not a cure and it is not a medication that lasts in the body as a single treatment, and so it does require repeated procedures, but with great benefit.
We've had clinical trial work and post-approval clinical experience that has shown us that it is effective, both to prevent onset of symptoms in early diagnosed infants on newborn screening and in people who've been affected by disease and who have symptoms. It's changed the course of the disease and the course of expectation and experience for people living with SMA.
We do have an oral option now for an oral daily medication that works similarly to produce a bump or an increase in the survivor motor neuron protein that does not require repeated procedures, but does require daily medication use. With that comes the potential for side side effects that are different interactions with other medications and also some other specific issues such as needing to consider implications for fertility in men potentially that we're learning more about.
Finally, which came out in between those two medications, is an FDA-approved single gene replacement therapy. It is a one-time IV infusion. It's known as onasemnogene, in terms of its generic name. It is a viral vector that carries a functioning version of the gene that can be dropped off into the body to allow the cells to start making the protein on its own, the survivor motor neuron protein, from the newly introduced gene. This is a game changer, it is a one-time treatment. We do not have decades of experience with this medication and our longitudinal history studies are only in the recent past, but we've seen tremendous outcomes that have taken us away from the natural history of the disorder. In many cases when given pre-symptomatically in infants, most infants do not go on to be requiring additional treatment, at least as far as the past few years of data that we've been able to obtain from the community.

Dr. Daniel Correa:
With these treatments and with many of the other neurologic conditions that you help families manage, there's also a discussion about moving into adolescence and transitioning into adulthood. For SMA and other chronic neurologic conditions, how do you discuss that transition of increasing independence with them and their parents?

Dr. Leslie Delfiner:
This is such an important issue. Even in families who are not dealing with chronic illness, helping your child gain independence is a struggle for anybody. That goes on two levels, as a parent, letting the independence develop, and as a young person, having the courage and the tools to help you do that. When we're talking about neuromuscular disorders and other forms of chronic illness, as a clinician, we can focus on a few things. One is maximizing access to adaptive equipment, in today's environment that can be a challenge, where often families will not be granted access to all of the equipment they need through their insurer, and creating a sense of confidence within our young person community to move forward is crucial.
There is the potential that when you get older and you have the experience of living with a chronic illness that your world can shrink. There's difference in ability and there are challenges that you may face that other people have a hard time understanding, for example, air travel as somebody who is dependent on a wheelchair for mobility is so incredibly challenging, and that's something that Cory Lee and other advocates in that space have really brought attention to. But working with your clinical team to openly discuss the challenges that you're facing in your environment to help find solutions, whether that's through adaptive equipment or appropriate accommodations in the school setting or even just finding opportunities that really line up with your interests and passions and help you have that confidence to move forward, those are the things that can help.
The thing we want to avoid as doctors in an SMA program is only talking about the science and the SMA, because the entire point of these medications is for life to be life and to help people do the things that they want to do and that the world benefits from them doing. Cory Lee brings benefit to the entire world, we're all learning from Cory Lee's adventures and travels and the work that he's doing, and that's what we really want.

Dr. Daniel Correa:
I would encourage everyone to take a look at Cory Lee's website and the discussions he's put out that talks about not only his own transition to more independence and travel, but just the excitement he's had enjoying and traveling and exploring the world and all the challenges that can come with it. Dr. Delfiner, you're a role model to many of us. I'm inspired by your advocacy, the great heart and full dedication that you bring to your work to stand alongside your patients in the community you care for. Thank you again for joining us.
Thank you again for joining us today on the Brain and Life Podcast. Follow and subscribe to this podcast so you don't miss our weekly episodes. You can also sign up to receive the Brain and Life magazine for free at brainandlife.org, and even get the Espanol version. For each episode, you can find out how to connect with our team and our guests along with great resources in our show notes. We love it when we hear your ideas or questions. You can send these in by email to BLpodcast@brainandlife.org and leave us a message at 612-928-6206. You can also follow the Brain and Life magazine and me on any of your preferred social media channels.
These episodes would not be possible without the Brain and Life podcast team, including Nicole Lussier, our public engagement program manager, Rachel Coleman, our public engagement coordinator, and Twin City Sound, our audio editing partner. I'm your host, Dr. Daniel Correa, connecting with you from New York City and online @neurodrcorrea. Most importantly, thanks to our community members that trust us with their health and everyone living with neurologic conditions. We hope together we can take steps to better brain health and each thrive with our own abilities every day. Before you start the next episode, we would appreciate it if you could give us five stars and leave a review. This helps others find the Brain and Life Podcast.
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Accessibility Advocate Cory Lee on Traveling the World as a Wheelchair User

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