May 6, 2022

Updates from the Frontlines of Medical Research

Updates from the Frontlines of Medical Research

In recognition of ALS Awareness Month, we get a report from the frontlines of ALS research, including new breakthroughs that impact patients. Dr. Sharon Hesterlee, the Chief Research Officer at the Muscular Dystrophy Association, gives us the big...

In recognition of ALS Awareness Month, we get a report from the frontlines of ALS research, including new breakthroughs that impact patients. Dr. Sharon Hesterlee, the Chief Research Officer at the Muscular Dystrophy Association, gives us the big picture on ALS research and other neuromuscular diseases. 

Plus, Terry and Dr. Bob discuss new health legislation, including a bill that would ban the QALY, a discriminatory health care metric that hurts patients with rare or chronic diseases. And Kate speaks with Jenny Jones, an advocate for Familial Adenomatous Polyposis (FAP), about her advocacy work for this rare genetic condition. 


Terry Wilcox, Executive Director, Patients Rising

Dr. Robert Goldberg, “Dr. Bob,” Co-Founder and Vice President of the Center for Medicine in the Public Interest

Kate Pecora, Field Correspondent


Sharon Hesterlee, Chief Research Officer at the Muscular Dystrophy Association

Jenny Jones, Patient Advocate and Author of Life's A Polyp

Sara Healy, Patient Correspondent

Jana Healy, Patient Correspondent


Terry Wilcox Applauds QALY Ban Bill - Patients Rising Now

Amyotrophic Lateral Sclerosis (ALS) - Diseases | Muscular Dystrophy Association

Rodgers, Banks, & Wenstrup Lead QALY Ban to Affirm Every Person's Life has Value - Energy and Commerce Committee

QALY Bill | H.R.7634 - Protecting Health Care for All Patients Act of 2022

ICER to Assess Treatments for Amyotrophic Lateral Sclerosis

MOVR Data Hub (neuroMuscular ObserVational Research) | Muscular Dystrophy Association

Life's A Polyp - Youtube Channel 

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Dr. Sharon Hesterlee (6s):
I think it's a really nice package of things that will help ALS research and also people living with ALS, because they will have more options to have access to drugs that aren't approved yet.

Terry Wilcox (18s):
May marks ALS Awareness Month, so today, we have updates on the latest innovations from the frontlines of ALS research. Plus, a new bill to end the use of a healthcare metric that discriminates against those with chronic disease. That's up next, welcome to The Patients Rising Podcast. I'm Terry Wilcox, Executive Director of Patients Rising, a group that advocates on behalf of the one-hundred and thirty-three million Americans who live with a chronic illness. I'm joined by my cohost, who was at the Met Gala to support Cardi B's...

Dr. Bob Goldberg (57s):
Use your imagination, Terry!

Terry Wilcox (1m 2s):
He's Dr. Bob Goldberg, Co-Founder of The Center for Medicine in the Public Interest. Hi Bob!

Dr. Bob Goldberg (1m 9s):
Hi. Can I say that my arms are really sore! Look, I always wanted to be at the Met Gala, and...

Terry Wilcox (1m 19s):
And there you were!

Dr. Bob Goldberg (1m 21s):
There I was. I didn't make her After Party, but it's okay. I mean, it's a small step, and while it was enjoyable and crazy, not as important as what we do here every week, which is to cover all the health policy news. There is a lot, now, that patients and caregivers need to know about. We're going to talk about how legislation, rules, regulations, and misbehaviors impacts your access to healthcare. We're going to report on it.

Terry Wilcox (1m 51s):
Today, we have updates from Congress on a new bill to ban a discriminatory health care metric from being used in federal programs. It's called Quality Adjusted Life Years, or QALYs, and it's known for undervaluing the lives of chronic and rare disease patients and it frequently can hinder patient access to care. We get into the details of that bill and what it means for healthcare accessibility.

Dr. Bob Goldberg (2m 15s):
Yes, Terry, and as you mentioned at the top of the show, May is ALS Awareness Month. Drug research development for ALS is accelerating. The question is, how are these potential innovations going to help patients? That's the focus of today's episode.

Terry Wilcox (2m 33s):
To answer these questions, we hear from Dr. Sharon Hesterlee. She is the Muscular Dystrophy Association's Chief Research Officer. The MDA has launched numerous research projects to find treatments for those living with neuromuscular diseases. We will hear about some of those latest developments, but first, this week's Healthcare News headlines.

Robert Johnson (2m 58s):
In your Health News, a concern over reports that the Johnson & Johnson COVID-19 vaccine may cause blood clots, as the FDA is setting limits on the formula. The single-dose vaccine, now, can only be given to adults over eighteen, who might otherwise refuse to be vaccinated, or those unable to take one of the other vaccines due to medical reasons. The White House says it doesn't have enough money to give all Americans a second COVID-19 booster shot. The warning comes in budget documents sent to Congress. The FDA has hinted that it may recommend a booster for everyone this Fall. Right now, they're only available to people over fifty. Alcohol sales, and consumption, went up during the pandemic and so have complications from drinking.

Robert Johnson (3m 42s):
A new study in The Journal of the American Medical Association's Network Open, says mortality rates increased, mostly among people aged 25 to 44. Finally, the CDC has pulled together a team to investigate why children are falling ill to hepatitis. A few of the patients have had to get liver transplants. All of them are recovering. While the cases number only a handful in the US, there's concern about a growing incidence of cases around the world. That's your Health News update for this week, I'm Robert Johnson.

Terry Wilcox (4m 21s):
Last week, a new bill was introduced, that if passed, would be a major victory for the entire rare and chronic disease community. It's called the Protecting Health Care for All Patients Act, and is sponsored by representatives, Cathy McMorris Rodgers, Jim Banks, and Brad Wenstrup. If passed, it would ban the use of QALYs in all federal programs. We've talked about QALYs frequently, in the past, on many episodes. It has to do with ICER and we've talked about ICER and QALYs, but it's been a while. So, Bob, could you give our listeners the crash-course version of QALYs?

Dr. Bob Goldberg (4m 60s):
Yeah. The QALY, is Quality Adjusted Life Year. It's not so much the term, it's how much are we going to pay for what is defined as an additional year of improved, or good quality, of life? All these things have been presented as scientifically achieved. Their rules of thumb, Terry. What your quality is, can differ between what my quality is, based upon where we are, where we live, what our goals are, et cetera, so it's almost immeasurable. The QALY is used in a diminishing number of health systems to determine how much we should spend on healthcare, generally, and allocate it to those treatments that provide enough QALYs for the amount of money people are willing to pay.

Dr. Bob Goldberg (5m 51s):
In the United Kingdom, they're willing to pay $20,000 for an additional year of quality of life. Here, ICER says, maybe 50. These are all pulled out-of-thin-air. There's nothing really scientific about it. What they're used for, most often, is to tell the sickest and most vulnerable people, that any improvement in quality-of-life from a medicine isn't worth all that much, or probably too expensive.

Terry Wilcox (6m 24s):
One of the things, since the early beginnings of Patients Rising, we've been talking about the QALYs, the banning of QALYs, and we shouldn't be using QALYs. It's really interesting, Bob, because I feel like the health economics landscape, the health economists out there, are really almost schizophrenic about this metric, right? You have the Paul Langley's, who we both know and work with of the world, who's just like, "Get rid of that thing altogether! It is a useless metric! It is not worth entertaining! There's many other ways to skin this cat, and we just need to let this go. There's thirty years of bad precedent around this." and then you have on the other side, ICER. "This is the gold standard" and you have everything in-between.

Terry Wilcox (7m 5s):
"Oh, we can't use it for rare disease drugs, but we could use it for this. You know, insurers just use it for a broad-base of this." A lot of times, doesn't it feel like nobody really actually knows. It's all very random. Risers putting out these reports, a lot of insurers will straight-up tell you they don't use them.

Dr. Bob Goldberg (7m 25s):
They don't use them, or they'll say, "Well, we only use it to say no."

Terry Wilcox (7m 32s):

Dr. Bob Goldberg (7m 33s):
Until we get better evidence. It's political theater at its worst, because people's lives are at stake.

Terry Wilcox (7m 40s):
Right, because it's affecting those, specific to your point, the sickest among us that are affected by the decisions when you use a quality adjusted life, you bring down, so it's really fantastic. It's not a bipartisan bill yet. We hope that it will be, but we applaud Cathy McMorris Rodgers, Brad Wenstrup, and Representative Jim Banks, for taking a step towards putting this bill out there and saying we're going to stand against this kind of discrimination. I think it's really important for patients and we all applaud that and we should get behind it.

Dr. Bob Goldberg (8m 21s):
It's incumbent upon patient organizations, or advocacy groups, to set aside, which I think we do, partisan differences and do what's best for patients. Nothing in Congress happens without pressure or advocacy from the patient community.

Terry Wilcox (8m 39s):
Absolutely! You and I both know this. The greatest commitment is when you're running a non-governmental organization, such as Patients Rising, or whatever. You're not ever thinking about your personal politics among something. You're always thinking about the politics of who you're advocating for, which is patients. This is what we often tell patients, it doesn't matter what your personal politics are. It matters what the bill is in front of you and how that's going to affect those that you are fighting for. Then, you advocate on all sides that you can, to get that thing passed, and to figure-out how to make it work to get people to come to the table.

Terry Wilcox (9m 21s):
You and I both know that this bill has the potential to do that. Like I said, this year is a tough year. Election years always are. They're not in district all that often, once about Midsummer hits, but we'll see. We still applaud it. So, keeping with our theme of Healthcare Legislation, the ALS community celebrated a big win this past December, when the Accelerating Access to Critical Therapies for ALS Act was signed into law. To you give us a rundown of what this means for patients, here's Dr. Sharon Hesterlee, the Muscular Dystrophy Association's Chief Research Officer.

Dr. Sharon Hesterlee (9m 54s):
This was a pretty big deal. This was something that we worked on with the ALS Association and IMALS to get this legislation through, but it's one of the biggest pieces, I think, of single disease legislation that's come through in a long time. I mean, let's face it, Congress doesn't get a lot done these days, sometimes in a bipartisan fashion, so it was great to see that this was a truly bipartisan effort. What this ACT does, it sort-of has three main components. The first, which I think is really meaningful to people who are living with ALS is, it provides a grant. Sort of a funding source for companies, or trial sponsors, who want to offer expanded access.

Dr. Sharon Hesterlee (10m 34s):
What this is, in a Phase 3 study, you have a cohort of people who are in the study, participating in and contributing data. There are always other people who don't meet eligibility criteria, for whatever reason, but would like to have access to the drug. It has always been the case that you could apply to the company for expanded access, but it was always at the company's discretion. They had to be able to show that the drug was safe, at minimum, the FDA requires that. After that, it sometimes costs money to supply drug for another study. What this does is, provide a grant source, so that sponsors can actually get funding to make these expanded access programs available.

Dr. Sharon Hesterlee (11m 17s):
If you don't qualify for a study, there can be other options for you to have access to that drug. That's the first part. The second part is that it allows for these public-private partnerships between the FDA, the NIH, and other groups that want to come together, and work together, on ALS projects, ALS research, and other neurodegenerative diseases. It's sort of a mechanism for allowing those types of partnerships. The third part of that is a grant mechanism that funds research into ALS and other rare neurodegenerative diseases. That comes through the FDA as well. I think it's a really nice package of things that will help ALS research, and also people living with ALS, because they will have more options to have access to drugs that aren't approved yet.

Terry Wilcox (12m 11s):
This is really great disease-specific legislation, Bob. We don't always talk about disease-specific legislation at Patients Rising, because we are so broad, but I think many of the components they brought into this, plus it's ALS Awareness Month, the expanded access piece and all of that. What are your thoughts?

Dr. Bob Goldberg (12m 31s):
I think it's inventive. Obviously, there are two things. First of all, it's very inventive formalizing the partnership relationship, and also the partnerships themselves focusing on ALS, but also include other rare neurodegenerative diseases. It's to create a safe harbor for developing alternative inclusion criteria and providing funding for expanding access under the investigation accelerated pathway approved. The irony is you could do all of this and then CMS could come around and say, "Nope, not good enough." I think that this is the, what's the term that I would use, Terry?

Dr. Bob Goldberg (13m 13s):
The elephant in the room, so to speak, that we can't see. We're doing all these great things, but yet out of the other-side of people's mouths are saying, "We can't pay for these things and we should let ICER determine whether they should have access."

Terry Wilcox (13m 33s):
Right. We should use more qualities and let some unregulated, non-governmental body determine, and then also, we should just let CMS run their own show after the FDA approves something.

Dr. Bob Goldberg (13m 44s):
Exactly, yeah.

Terry Wilcox (13m 45s):
It's like you can line everything up so that it's supposed to work, and then it can all come unraveling, which we have somewhat seen in the Alzheimer's space, which has been unfortunate.

Dr. Bob Goldberg (13m 59s):
The other thing, is there any funding for ALS research in the legislation?

Terry Wilcox (14m 4s):
One of the key provisions in that bill was the grant funding specifically for ALS research, which is a focus of Dr. Hesterlee. I asked her about the current research landscape, and what new innovations are on the horizon for patients, and here's what she had to say.

Dr. Sharon Hesterlee (14m 18s):
So, there's some interesting things that are in clinical testing now. One, that probably a lot of people have heard about, is a drug from a company called Analex, which is a combination of two compounds that has done very well in clinical trials. They've recently applied for approval in the US and I think the FDA is still on-the-fence a bit about it. It's not clear which direction it's going to go, but the data looked promising. At worse, what might happen is, they might ask for additional data, but it looks like that drug could be approved in the US and that's sort of an interesting approach. There's another drug that's in development by Biogen called, Tofersen, that targets one of the hereditary forms of ALS, because we know the gene mutation that causes it, they can target it directly.

Dr. Sharon Hesterlee (15m 8s):
That drug is in Phase 3 studies, and I think it just missed some of the outcomes that they have predefined, but they're still hopeful that they understand how they can change and it's more of an issue of the trial design. They can change the trial design and it's likely that there could potentially be an approval.

Terry Wilcox (15m 29s):
So, Bob, Dr. Hesterlee mentioned Analex, and you and I both know, that is one of the medications set to be reviewed by ICER. Just a quick recap for our audience. ICER Institute for Clinical and Economic Review, is an unregulated body that provides cost assessments of new treatments. It is used by insurers, as Bob likes to say, to say no to determine what they'd cover. I don't know that they necessarily dig into the report, and agree with it, as much as they use the headlines of the media-push in the health policy community to say no.

Dr. Bob Goldberg (16m 5s):

Terry Wilcox (16m 5s):
I think that's what you and I are more or less getting at.

Dr. Bob Goldberg (16m 9s):
They leak it out. Well, they don't leak it out, but they put it in the press, then the press picks it up, then the talking heads pick it up, and then the insurance companies pick it up. If you ask them, could you explain the methodology used by ICER to make that determination? Are you going to validate that? It's sort of the Ralph Kramden, "Homina, Homina, Homina, Homina."

Terry Wilcox (16m 39s):
You know, there are many really thoughtful people, that I respect immensely in this space, that think deeply about the value of new treatments and how we're going to determine payment models and all of these things, but at the end of the day, when you look at the way ICER sort of churns these things out, and the whole way it's been done, it really is ultimately just a giant communications plan with reports on the other side of it.

Dr. Bob Goldberg (17m 12s):
It is.

Terry Wilcox (17m 14s):
It really isn't deep, thoughtful science. They're really not trying to get to the bottom of anything.

Dr. Bob Goldberg (17m 21s):
Oh, no.

Terry Wilcox (17m 22s):
Or really trying to figure-it-out in a meaningful way for patients. I just don't see it.

Dr. Bob Goldberg (17m 34s):
We have the ability to collect data, update it in real-time, and determine the impact on not just the clinical parameters of treatment, but the quality-of life-parameters of treatment. Are these things expensive? Yes, sometimes they are and that's a separate, I wouldn't say it's a separate conversation, but I think that we focus so much on the cost of a new medicine, to the exclusion of everything else that we're paying for in the healthcare system, that is overpriced.

Terry Wilcox (18m 6s):
Well, exactly. Speaking of data, you brought-up a very good point here when you're talking about there's a way to utilize real-world evidence, update it in real-time, and really determine what's affecting a patient one way or another, when they're on a new therapy. We talked about a new patient data hub, from MDA, that is a great example of research designed with the patient in mind. Now, not only is it private, and secure, but it also allows the patients to compare their own data against an entire data pool, which I thought was kind of cool. Sometimes patients are just signing-off for their de-identified data to go in a hub and it's like...

Dr. Bob Goldberg (18m 45s):
No! Well, you know...

Terry Wilcox (18m 46s):
A lot of patients are willing to do that, because they do understand the value of that. Hands down, I believe that. This new research hub, or data hub, is called the neuroMuscular ObserVational Research data hub. Here, Dr. Hesterlee explains a little bit more about it for us.

Dr. Sharon Hesterlee (19m 5s):
We have about 2000 people, with ALS, who are participating in that study. It's a really large data set and it's a very rigorous data. It's well-validated and it's nice, because as a participant, there's not a lot of burden on you to do things. You don't have to find your records. You don't have to submit things. That data allows us to look at things like, time-from-symptom-onset to diagnosis, and it's different for men versus women. It can be different for the type of ALS, but we can track that, measure it, and show that we're either making more progress by decreasing that gap, or it's getting worse, which I hope won't happen. We can track medications, we can track outcomes, so it becomes a really great resource that we can use for drug development and there's a lot of interest in it so far.

Dr. Sharon Hesterlee (19m 52s):
I think the one thing that we're implementing, two new things - We want to add a patient advisory committee so that we have people, who are participating in the registry, can actually give us some advice about what they think we should be collecting and how we should be collecting it. We also want to find a way to return that data to the participants. Your data is going into this database and wouldn't it be great if you could also see your data? If you can see your data, compared to say, the aggregate data, the non-anonymized aggregate data, you can see where you fall in different areas. Those are two things that we're working on, but I think it's going to be a great tool for research.

Terry Wilcox (20m 33s):
That's great. I know you're really invested in this space spot, in the data collection, real-world evidence space, that this really is the wave of the future as we look at personalized medicine.

Dr. Bob Goldberg (20m 46s):
Right, and the important thing is to make it easier and almost operate seamlessly. Make the registry operate almost seamlessly in the background. You shouldn't have to create a whole new set of data to be in a FDA-compliant environment. There are approaches, that you and I know, will allow you to gather the real-world and clinical data, integrate it and update it in a way that's FDA compliant, but also is owned by the patients. We've had Ardy Arianpour, from Seqster, on our show and their technology allows you to do just that.

Dr. Bob Goldberg (21m 31s):
I'm glad that Mover is moving in the right direction and the ALS Foundation, and the bill, is setting a platform for accelerating Accelerated Approval and that's the direction we should continue to go in.

Terry Wilcox (21m 48s):
I could not agree with you more. Folks, you can learn more about this story, and all of the other news mentioned today, by heading to the episode show notes. This episode of The Patients Rising Podcast is brought to you by Patients Rising Concierge. A new service from Patients Rising, that helps patients, and caregivers, find the resources they need to find stability and support throughout their healthcare journey. From finding a professional advocate to help with insurance challenges, to legal and tax counsel, to local caregiving resources and so much more. Our team is standing by to help you navigate the healthcare system and connect you to the services you need.

Terry Wilcox (22m 43s):
To learn more, visit, or email us at Up next, Field Correspondent, Kate Pecora, continues to speak with patients from all across the country. Take a listen.

Kate Pecora (22m 52s):
Today I'm speaking with Jenny Jones. Jenny is going to share a bit of her story with her new diagnoses. Jenny, nice to talk with you today.

Jenny Jones (23m 2s):
Hi, as you know, I am Jenny and I have been ill with Adenomatous Polyposis and Short Bowel Syndrome, those are my diagnoses and they both happen to be rare diseases. Lucky me, I have two of them.

Kate Pecora (23m 12s):
Can we start off by talking about what those two diagnoses are and what do they mean to your daily life? What kind of impact do they have on your ability to participate in things that you want to do? What is that like?

Jenny Jones (23m 27s):
The first one, FAP for short, is inherited and causes hundreds to thousands of colon polyps to develop. You will have to have your colon removed at some point. I had it removed at age nine and I ended-up having an ostomy for six years. I had complications that resulted in multiple surgeries, which led to the diagnosis of short bowel syndrome. That's because part of my small intestine was removed. My intestine doesn't absorb well, and I had a lot of dehydration, malnutrition, and everything runs through me quickly. That also affects my health. Between the two of them, I have a lot of GI issues.

Jenny Jones (24m 7s):
I go to the bathroom twenty times a day and that can make it difficult for activities. Although I think I managed pretty well with it, I also get chronic nausea, especially from adhesions. I also have to be careful how much I eat, because that can cause pain, or extreme bloating, so there's a lot of GI-impact that affects my daily life.

Kate Pecora (24m 30s):
Talk to me about your pathway into advocacy. I know you have a Youtube Channel, you have a little blog and certainly are on social media, so talk to me about what kind of engaged you to put yourself out there and share more of your story. I know your page is called Life's a Polyp. How has that been for you?

Jenny Jones (24m 51s):
It's been quite the journey. This is actually my 10-year anniversary of Life's a Polyp, and really it started way back. I was obviously impacted by my health as a child. I had a lot of mental health issues related to the things I experienced medically, so I had a lot of depression, anger, and a lot of shame in myself. I didn't love myself. I hated myself. I hated everybody else. I blamed everybody. It was really an awful several years, but with the internet, gradually I got into counseling and I started to be able to cope with things better. It led me into Facebook, in college, at the insistence of a friend that I join.

Jenny Jones (25m 31s):
I'm so glad she did, because it led me to FAP groups and it shaped my desire to help others with chronic illness and not go through what I went through as a child, and then by connecting with other people who have FAP, I was asked to start Life's a Polyp. Then, I was contacted by someone who encouraged me to identify myself and not be anonymous. Over time, it built-up to what it is now and to doing things like raising funds for research for FAP, and anything and everything I can think of, to raise awareness and advocacy, including writing a children's book that was just released on Rare Disease Day.

Kate Pecora (26m 14s):
Talk to me about the book a bit.

Jenny Jones (26m 17s):
My children's book is called, Life's a Polyp with Zeke and Katie. It's about a young boy who discovered that he has FAP and his journey physically, and emotionally, with that. I had a young lady ask me for tattoo ideas. She said she didn't want to use Life's a Polyp, because that'd be too well-known, which was very flattering. I don't think that would have been the case, but it was very flattering and besides-the-point, so I came up with a list of ideas for her. A couple of them were about being a mutant, because FAP is a genetic mutation. We asked my boyfriend's son to help us come-up with mutant ideas, because we weren't coming up with anything.

Jenny Jones (26m 57s):
I mean, that's really hard if you think about it, to come-up with a mutant that has not already been created, or influenced, by all the other things we see, like Monsters Inc. He helped come-up with some ideas and we took it from there. It's about a little boy that ends-up discovering that he has FAP, and when he realizes, and finds out that he has colon cancer. It follows through his journey with going through FAP diagnosis, surgery, cancer, having an ostomy, the things he learns, also having depression, and anger, on the mental health-side of what it is, especially for a child.

Jenny Jones (27m 40s):
One of the great things that I love about this is, not only can it be helpful to a kid with FAP, but also a kid that just has someone else in their family with FAP. It helps teach about it and about how to cope with it.

Kate Pecora (27m 57s):
I also do want to know if you have any kind of advocacy issues that you think are not well-represented right now within the FAP community, things that could get more attention potentially.

Jenny Jones (28m 9s):
Definitely research and that's a big focus of mine. I actually created a shop where I donate all the profits to the research fund. I started it in 2015, this research fund with NORD, and a portion of the profits of the children's book, will go to it also. A huge thing for me is the research, because the more research we have, the better treatments, and maybe we can stop having to require our colons be removed, or we can delay it even more. I know there are different things they're doing to help with that already, but with any rare disease, we need more. Another thing, that is a side-project of mine and is really spearheaded by a friend of mine who has Attenuated Familial Adenomatous Polyposis, or AFAP, he's really trying to get on a federal level, like a ten-year recognition of Hereditary Colon Cancer Syndrome Awareness Week in March, every year.

Jenny Jones (29m 8s):
Between the two of us, we have gotten some states, the governors, to sign those proclamations on a yearly basis. He's very big in raising awareness, particularly for AFAP, because that's what he has, a variant of FAP. That would be really nice to see that happen and that way, we could just get more awareness of it, because the general population doesn't realize it. One thing with FAP, as well as inherited, it can spontaneously occur. We know colon cancer, in general, can happen at a young age, even if you don't have the mutation.

Jenny Jones (29m 48s):
The quicker we can get people screened, and more open to being screened, the better all-around, regardless of what your cause for colon cancer might be.

Kate Pecora (29m 55s):
Fantastic. Well, thank you, Jenny. I think that is a great message and really exciting to hear all that you're doing. If people are interested and want to reach-out, where can they find you on social media? I know that you have a relatively big following, so tell me about that.

Jenny Jones (30m 14s):
My website is and across social media, my handle is Life's a Polyp. I have all that linked on my website too, all in one spot for everybody.

Dr. Bob Goldberg (30m 27s):
Thank you, Kate. Now it's that time of the show, where we get to hear from you, the members of the Patients Rising community. Here is this week's patient correspondent.

Sara Healy (30m 38s):
Hi, my name is Sara Healy. I'm 38 and I'm from the Minnesota Congressional District 8. Hi, I'm Jana Healy. I'm 38 and I'm from Minnesota Congressional District 8. We really wanted to discuss about our navigation through different doctors throughout our life. We have been seen and treated by numerous doctors, mainly specialists, because our primary doctors have never heard of our rare disease, Cystinosis, and we were not sure how to treat it. That was frustrating, because we always had to travel to a different city, which was expensive. We had to take time off of school, and work, when they could have treated and done our yearly workup at home. Most of the doctors did not take an interest in learning more.

Sara Healy (31m 19s):
We always had to go to multiple doctors just to figure-out what was wrong. The more we can learn about mechanism of diseases, the more doors we can open for effective patients. "The more we educate ourselves about certain conditions, the more we can inform policy and improve someone's quality of life." says Elif Oral MD, an endocrinologist at Michigan Medicine.

Jana Healy (31m 41s):
We would like to see a change in the educational programs for the medical field. For instance, maybe requiring medical students, and interns, to take a college class that is just focused on rare diseases and learning more about them. The general, and primary doctors, need to take more of an interest in rare diseases, because it could save a life. Discovering disease mechanisms can lead to breakthroughs and novel treatment pathways, Dr. Oral says. Only 450, of the 7,000 rare diseases have specific or certified therapies. We must recognize the importance of finding these treatments.

Dr. Bob Goldberg (32m 22s):
Thank you for sharing your story with us today. Is there a healthcare issue impacting you or a loved one? If so, we want to hear about it. All you have to do is send an email to Terry and me at podcast@

Terry Wilcox (32m 40s):
We're so glad you joined us for today's episode. If you have just a few seconds, pass this episode along to friends, fellow patient advocates, or caregivers.

Dr. Bob Goldberg (32m 45s):
And while you're there, click the "follow" button on your favorite podcast app, that way you won't miss out on any future episodes.

Terry Wilcox (32m 47s):
We'll be right back here next Friday with another new episode. Until then, for Dr. Bob, and everyone at Patients Rising, I'm Terry Wilcox. Stay healthy!