The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed

[00:00:00] I'm Effie Parks. Welcome to Once Upon A Gene, a podcast. This is a place I created for

[00:00:09] us to connect and share the stories of our not so typical lives. Raising kids who are

[00:00:15] born with rare genetics and drones and other types of disabilities can feel pretty isolating.

[00:00:20] What I know for sure is that when we can hear the triumphs and challenges from others who get it,

[00:00:26] we can find a lot more laughter, a lot more hope and feel a lot less alone. I believe there are some

[00:00:32] magical healing powers that can happen for all of us through sharing our stories and I'll take

[00:00:38] all the help I can get. Once Upon A Gene is proud to be part of bloodstream media, living in a family

[00:00:48] affected by rare and chronic illness can be isolating and sometimes the best medicine is connecting

[00:00:53] to the voices of people who share your experience. This is why bloodstream media produces podcast

[00:00:59] blogs and other forms of content for patients, families, and clinicians impacted by rare and

[00:01:05] chronic diseases. Visit bloodstreammedia.com to learn more. Hi there and welcome to the show. This is

[00:01:10] Once Upon A Gene and I'm your host Effie Parks. Thank you so, so much for spending some time with me

[00:01:16] today here on the podcast. It means so much to me. You could be doing a million other things. I really

[00:01:21] appreciate that you want to come hang out, be in this community and learn something. Or just get

[00:01:26] fired up like you might today from this episode because I'm talking to one of the cutest sassyest

[00:01:31] women in a rare disease. When Amber Fried calls you and says I need to talk about something,

[00:01:35] you find some time on your calendar to let Amber Fried talk about something. If you don't know Amber

[00:01:40] Fried she was on the podcast way back when the link will be in the show notes for her past episode

[00:01:45] but you must be under a rock that rare disease put on you and you haven't been able to lift off yet

[00:01:50] but I assure you people who have been helped by Amber and Amber herself can help lift up that rock.

[00:01:54] She shares her homework, she motivates and empowers everyone across the world to pick up a sword

[00:02:00] and do something for rare disease in one way shape or form. I know CTNM1 is so lucky to have had

[00:02:06] her mentorship over the years and many others who wouldn't be where they're at without her help.

[00:02:11] So today we're talking about ICD codes. We're talking about the frustrations, the battles

[00:02:17] and the downright common sense changes that we're fighting for in the rare disease community to get

[00:02:22] these important ICD codes. It's pivotal for the recognition, the research and treatment of rare diseases.

[00:02:28] There's a lot of hurdles and there's a lot of bureaucracy and advocates are getting angry

[00:02:35] and they're getting loud about it and they're on the path to help change this and I gotta tell you

[00:02:43] when it comes to fighting for what's right, you all know the rare disease community is relentless.

[00:02:47] So in the future we're going to have some more in-depth chats about ICD codes from experts so keep

[00:02:53] an eye out for those but today I'm just having an informal chat with Amber who has been pounding

[00:02:58] the pavement for an ICD code for SLC6I1. So we're going to hear about her experience and she also

[00:03:04] brings up a book. She brings up a book that is out. It has cute little drawings and it's things

[00:03:10] that have ICD codes. Amber names a couple of her favorites and I thought I'd go through some

[00:03:14] of the pages and leave a couple of my favorites and one of them that has an ICD code is knitting and

[00:03:21] crocheting and the other one is Opera House as the place of occurrence of the external cause.

[00:03:29] These are things that have ICD codes that help gather patients yet rare disorders like hours

[00:03:34] where gathering the patients and the information is so so so important are being denied ICD codes.

[00:03:40] So I will stop rambling and I will just let you hear from the woman herself. Please enjoy my

[00:03:46] conversation with Amber Fried. Oh hi Amber Fried so nice to have you back on the podcast.

[00:03:52] So happy to be here! It's been so long since you've been here. I'm so excited to have you back,

[00:03:58] you know, you're everyone's biggest like champion and everyone loves you so much and you're so helpful

[00:04:03] and you're such an asset to the rare disease community so thank you for taking the time.

[00:04:07] So happy to be here! Okay so today we are talking about the bay and of many rare diseases existence.

[00:04:15] What the ICD code debacle is all about and why we need them and what they're for and what's the problem

[00:04:23] and why should we care and as many things as we can figure out how to hash out through in a

[00:04:28] little podcast episode. So first Amber for anyone who hasn't been lucky enough to encounter you

[00:04:35] could you please give us a little intro about who you are? Sure I spent my career in equity research

[00:04:41] and I had twins in March of 2017. It is going to be their birthday in seven days and I have even hired

[00:04:50] a mermaid to give out cake. I am so excited. So cute! So early on after my twins were born I just

[00:05:00] noticed my son Maxwell was not doing the same things that his twin sister Riley was doing

[00:05:06] right on the mat next to him and after a long diagnostic odyssey and so many twists and turns he

[00:05:14] was diagnosed with SLC 681 and I quickly realized from the moment that alphabet soup left the

[00:05:23] kind doctor's lips that nobody was ever going to come and rescue us. That the only person that could

[00:05:32] help Maxwell are his parents, those people that love him and I took it on as my life's mission

[00:05:40] at that moment to help every other child with SLC 681 and develop treatments for this rare condition.

[00:05:48] I have spent every minute working on that mission since. Yeah you have and it's not just that you

[00:05:54] started a foundation to fund research for SLC 681 you have also been a mentor to so many others in

[00:06:01] the rare disease community including CTNNB1 so thank you for always being such a giver. You rock okay

[00:06:06] well let's dive into it Amber the ICD 10 codes. First of all can you just give us an explanation

[00:06:11] of what these codes are and why they're important for the diagnosis and treatment for rare diseases?

[00:06:18] Sure so most people listening to this and probably most people that have never been very sick would

[00:06:26] not know what an ICD 10 code is and to give a little bit of history back in 1999 the ICD 10 code was

[00:06:35] developed by the World Health Organization and it was used to track mortality coding from

[00:06:44] death certificates with that census probably and what that means in a practical sense is

[00:06:53] it became the way we tracked how people died but also the way people were diagnosed and treated

[00:07:04] for conditions and that code went from the World Health Organization through the Centers for Disease

[00:07:11] Control in the US. Okay so how do ICD 10 codes now impact research and funding and development of

[00:07:19] treatments for rare diseases? Sure so ICD 10 codes drive so much in clinical medicine. What an ICD 10

[00:07:30] code looks like today is not just mortality coding. When you go to the doctor with strep throat or

[00:07:39] something the doctor inputs a code of what is actually bothering you so there is a code for the flu

[00:07:50] or strep throat or whatever and in a total practical sense of an ICD 10 code it is how the doctor

[00:08:00] builds insurance or self-funding or whatever for insurance. I don't think ICD codes is

[00:08:08] necessarily even like common language among parents who are pretty new to this or who aren't active

[00:08:13] with their patient advocacy orgs but I know you've seen that weird little number that's right next

[00:08:18] to that denial in that insurance letter that you get for your kid for whatever reason so this is

[00:08:24] the code and sometimes if you really wanted pay attention and kind of get nerdy about it those codes

[00:08:30] sometimes don't have anything to do with the diagnosis of your kid and it was just picked because they

[00:08:34] knew it might get approved or maybe they were being lazy or maybe they just couldn't think off the

[00:08:39] top of their head what ICD code could fit whatever they were trying to get covered through insurance. So

[00:08:44] sometimes it can be completely random for whatever reason. What do you think about that about that

[00:08:50] misclassification or the lack of a specific ICD 10 code and how has that been impacting kids

[00:08:56] like ours. The ICD 10 code was probably never meant to become what it has but yes now it is the bones

[00:09:06] of our health care system and this has really impacted rare disease because our kids go to the doctor

[00:09:14] and we describe some of their symptoms but we need a code to represent our specific diseases.

[00:09:22] It's how we become legitimized as a real disease, a real population and as a way to be tracked in

[00:09:32] our health care system right now all rare diseases are struggling so much to find patients

[00:09:41] and we're also trying to encourage doctors to genetically test their patients when they show up

[00:09:48] with a very strange set of symptoms and this is most eloquent way to fix this problem for our

[00:09:56] communities. So this is so complex and it's so confusing and I know it has made so many of us

[00:10:04] angry across the board. Why is the process of attaining an assigning an ICD 10 code for our

[00:10:10] right diseases so messed up? Why is it so difficult? To answer this question I think it would be best

[00:10:16] to start with who it's easy for. To obtain an ICD 10 code for let's talk a little bit about the

[00:10:24] existing codes right now. This is the type of stuff that you can't even make up. Some of my favorite

[00:10:31] codes relate to animals like being bitten by a pig initial encounter struck by a duck

[00:10:40] subsequent encounter other contact with a cow these codes with the animals they bring up so

[00:10:48] many more questions you know like who is struck by a duck twice and what was that other encounter

[00:10:56] with a cow? What happened there and also how did you get a code? It's so hard not to laugh at

[00:11:04] I just have a really hard time. I've seen this book it's out of control I mean there's one like being

[00:11:09] hit by a couch right like falling over furniture I mean it's it's comical and it's really frustrating

[00:11:17] especially when many of our orgs have attempted to go through the process of gaining one of these

[00:11:23] codes so why do you think there are some of these random ICD codes and what are the problems

[00:11:30] that we're facing as patient advocacy orgs in getting them? What are the barriers and why are

[00:11:35] their barriers? Why wouldn't they want these classified and what is kind of the real reason maybe?

[00:11:40] This is something I would love to tell you about and I have spent hundreds of hours trying to figure

[00:11:47] this out myself and thank goodness for SLC 13a5 and Kim Nye if it weren't for her organization

[00:11:58] and combined brain we wouldn't be nearly as far even trying to answer this question so in all of

[00:12:07] our naivete we approach the Centers for Disease Control and we say hi Center for Disease Control

[00:12:14] it looks like you assign ICD 10 codes and it also looks like there's an ICD 10 code for bizarre

[00:12:21] personal appearance and so we all already fit under that code how can we get a specific one

[00:12:28] for our kids rare disease? And we are given a couple of answers and we formally apply I can only

[00:12:36] speak to my story but I applied way back in 2021 where I learned that there are only two chances

[00:12:44] a year to obtain an ICD 10 code and you submit a formal application then if you're selected

[00:12:52] you can present before a committee if you're not selected to present then you have to wait another

[00:12:58] six months and if you are chosen it will take an additional year to be assigned an actual code we

[00:13:04] weren't selected instead we were deferred another six months and this insanity has gone on for three

[00:13:12] years before I contacted a man named David Berglund at the CDC and said please do explain why

[00:13:21] we can't even be heard for a rare disease code and I actually just glossed over that we were

[00:13:29] selected to be heard this time last year so many rare disease doctors went up before the panel

[00:13:38] and pled their hard out why this is such an obstruction for the rare disease community why we need a

[00:13:45] code suggestions as to the code they can give us we handed it to them on a silver platter the logic

[00:13:53] for which we were given as to why we can't get a code included the following doctors aren't smart

[00:14:01] enough to understand more codes there are already too many codes in the system to which I responded

[00:14:10] using that logic that's like saying Taylor Swift should not write another song because there

[00:14:18] are so many songs already in this world where would we be as a society at Taylor Swift just stopped

[00:14:25] putting out music that's sick the second reason was the Centers for Disease Control isn't sure

[00:14:34] that genetics cause disease whoa is that that mm-hmm yes now it becomes a feedback loop because

[00:14:45] the CDC says that and then they also blame the AAP the American Academy of Pediatrics

[00:14:54] and the AAP blames the society for neurologists but yes it is said many times over by many

[00:15:05] organizations at the end of the day they're all playing hot potato and just won't take it on

[00:15:12] okay just real briefly if you can because I know it's really extensive can you give us sort of

[00:15:19] some insight on what that application looks like that you put forward and you explained pleading

[00:15:25] your case right and so what goes into that you said you had some doctors on there obviously you

[00:15:30] have to have some people on your side but what does a patient advocacy org have to gather to then maybe

[00:15:36] hopefully get selected for that limited call option twice a year so what all did you have to give them

[00:15:42] on that silver platter to have them come back to you with such silly reasons the application itself

[00:15:49] is pretty straightforward there is a scientific component and a clinical component with material I

[00:15:57] would say most people listening either have already or should have fairly soon it's not too hard to

[00:16:06] put it together if you have a medical board of advisors or if you're involved with an organization

[00:16:12] like combined brain okay to be selected is totally unclear there is no process interesting

[00:16:21] interesting is there any reasoning behind why only a certain amount can get selected every six

[00:16:26] months no there is no reasoning at all and there is a single point person at the CDC and what I

[00:16:36] would say I've learned is that it's mostly his decision and that this entire process

[00:16:45] is the decision of one person at the CDC yes I think some of us know who that person is so why

[00:16:53] do you think there are such strong opinions obviously with the bureaucratic side of things but also

[00:17:01] with maybe clinicians why do you think there are varying opinions on why communities should be

[00:17:07] getting ICD 10 codes I had a call with the AAP just a couple of weeks ago with the doctors we all

[00:17:18] love so much within our community and the advocates we all love and some of the reasons I was given

[00:17:26] specifically it all falls under that it's just too much work it was said that there are too many

[00:17:35] rare diseases and if we give you one we need to give everyone a code that just feels so wrong

[00:17:44] and so I even suggested at one point what if I bought an angry duck and before every kid with

[00:17:54] SLC 6a1 went to the doctor I had that duck bite them and we could just repurpose that duck code

[00:18:03] because they were able to get a code and so you know what we don't even need a new code we're all

[00:18:09] set just give us that code I mean I wouldn't put it past you Amber and I feel like a really great viral

[00:18:15] video campaign happening for all of our kids with the duck I think that's what needs to happen

[00:18:22] it get a duck a pig a cow whatever it is and say hey look also all of the parents can maintain

[00:18:31] our bizarre personal appearance so that is killing two birds with one stone oh my gosh I'm sure

[00:18:37] there's an ICD code for that actually okay so recently I actually heard an argument of maybe we

[00:18:43] shouldn't have each rare disorder have its own ICD 10 code we should have a universal rare genetic

[00:18:49] or neurodevelopmental ICD code have you ever heard that argument and why or why not would that

[00:18:55] be helpful or not helpful I have had the heard the argument and what I would say is bringing this

[00:19:02] down to all of our personal experience when you sat in that diagnostic room and a doctor

[00:19:11] delivered a rare disease diagnosis to you did they come in and say hey this is everything we know

[00:19:19] about this disease contact this patient organization I heard there's a gene therapy in the works for

[00:19:27] you at the University of Minnesota maybe but probably not and the argument that I keep going

[00:19:37] back to for patient organizations for actual patients for doctors is that this ecosystem has become

[00:19:48] very very very complex and if patients or doctors are said are given a diagnosis and a code

[00:19:57] that goes along with it it makes the insurance billing process so much easier for all of us

[00:20:04] and it helps patients find patient organizations find scientists find the doctors where there

[00:20:13] may only be one in the world that are familiar with their specific disease but also it will help

[00:20:22] patient organizations find those patients and say hey we've been working on a treatment for you

[00:20:30] we've repurposed a drug for you like please just google the condition doctor patient whatever

[00:20:39] and look and see what comes up so that we can help each other.

[00:20:43] Amen I mean I could we could go on a whole different tangent about what families are offered

[00:20:48] in the diagnosis room which is still so broken and full of emptiness okay so where do we fight I mean

[00:20:55] this seems like such an extra thing as usual put on the shoulders of families who are raising

[00:21:02] money and funding research to find treatments and therapeutics for these rare diseases so where do we

[00:21:08] galvanize for this like is this an education and awareness issue is this a policy change through

[00:21:14] government and bureaucracy is this like a data collection thing is this you know globally like

[00:21:19] international collaboration is this figuring out technology issues and EHR connections like

[00:21:26] where do we start to make a difference because not every single person can just file a lawsuit

[00:21:30] to finally get their ICD code and that might not work every time either. That's right and I

[00:21:35] ask myself this exact question a lot how far do we educate all of those people that should

[00:21:43] also be helping us before we become angry that we're just straight up just to find the lives

[00:21:50] of our loved ones at this point and I think this is a specific issue where as a rare disease

[00:21:57] community we need to become angry this is extra this isn't something we should all be fighting every

[00:22:05] day we have educated now as much as possible it is time to get the rare disease caucus involved

[00:22:13] it is time to talk to the White House about this and contact our senators our congressmen

[00:22:21] and also we all need to apply for ICD 10 codes at the same time like should it be like a giant

[00:22:28] group effort like crawling up the stairs like should every rare disease org at least you know

[00:22:35] vocally like say every org that is a part of combined brain should everyone submit an application

[00:22:41] at the same time and be loud. Have an application in the works but more importantly I think this

[00:22:49] is a topic where we all need to be loud this one person at the CDC is certainly not going

[00:22:57] to work past five o'clock to make sure that rare diseases receive a code he's far too busy

[00:23:04] monitoring the amount of shark bites off the coast of Argentina right now so get angry

[00:23:11] start blogging about this this needs to be a topic that everyone needs to tweet about and

[00:23:18] becoming agree about to be noticed. Who should we be partnering with as rare disease orgs to help

[00:23:25] move this forward in a policy avenue or like what other sort of umbrella group should rare disease

[00:23:31] groups be uniting with to help get this sort of over the line or like at least onto the board

[00:23:38] is this like a every life thing is this like who who could sort of be the quarterback.

[00:23:44] This is all of the above absolutely all of the above talk to Nord talk to every life talk to

[00:23:51] global genes talk to your patient organization. All of us need to become angry about this in order

[00:23:59] to enact change from within. Okay and then how about some top five action items can you think of

[00:24:04] the top five things that families parents advocates patient advocacy orgs can do right now to get

[00:24:13] the balls rolling. Sure definitely apply definitely start advocating to larger organizations like

[00:24:20] global genes Nord every life contact combined brain combined brain has led a lot of the actions

[00:24:28] with the help of the test foundation and now sLC 6a1 connect is taking a larger role in some of these

[00:24:38] grassroots efforts of just obtaining a code we plan to organize writing letters to politicians

[00:24:45] writing letters to the AAP the AAN essentially any areas that are open to you just start getting

[00:24:55] the message out as much as possible. Okay by the time this episode comes out Amber could we

[00:25:00] perhaps maybe have a downloadable editable PDF and have this letter that goes to your

[00:25:07] representatives already written and you can just plug in your disorder and everyone can have

[00:25:11] the same language and it can already be there and all you have to do is fire it off and also

[00:25:16] maybe copy of like social media campaign that every single one of us are sharing like wildfair

[00:25:21] can we have two of those things that people can just copy and paste because you know how difficult

[00:25:25] it is for anyone to do anything. We absolutely can do that. Yeah I think that would be good.

[00:25:30] When we can put it all over social media people can put in their newsletters but most of all

[00:25:34] we can do the work once and everybody can share the homework and spread it. That is perfect. Is

[00:25:40] there anything that I didn't ask that you want to talk about or that we really need to touch on?

[00:25:45] I know this this episode is kind of like a prequel to like starting a huge conversation,

[00:25:50] a movement and really just get this going faster than it has been because I know it's been so

[00:25:55] piece-milled and it's so confusing and so many people get different ideas and different opinions on

[00:26:00] why ICD codes are good or bad. And so I think what we're doing right here is just establishing a

[00:26:06] baseline of guess what this is something that we have to work on now. This is super important

[00:26:10] and we have to get the ball moving and we have to do it together. Absolutely. The only thing I would

[00:26:14] add is that by disallowing rare diseases in ICD 10 code, it is sending the direct message that

[00:26:23] we are too rare to be counted and that minimizes the lives of every rare disease patient. Amen.

[00:26:30] Okay Amber tell everyone where they can find you, how they can connect with you if they have any

[00:26:35] specific questions on anything really but especially ICD codes and your work through combined

[00:26:41] brain maybe if that's the avenue you want them to go, how can people get in touch with you if

[00:26:44] they need to? Amber Fried is the easiest person to get a hold of. Probably a little too easy. Look

[00:26:51] me up on LinkedIn, my website, my website has all of my contact information. Just get a hold of

[00:26:58] me and we will have all of the contact information, social media application, like a one page to do

[00:27:05] list of getting an ICD 10 code attached by the time this podcast codes out. Okay awesome you're so

[00:27:12] amazing and generous and smart Amber thank you and yeah by make sure you check your show notes

[00:27:16] for this episode we're going to have a downloadable PDF and copy for social medias please encourage

[00:27:22] your patient population in your groups and your advocates to just share if that's all one can do,

[00:27:27] that's a lot of work that's a lot of advocacy is to just share content online so please make sure

[00:27:33] to download it fill it out and just start pushing it in your emails. Totally agreed in the meantime

[00:27:38] please have your kids bitten by pigs. Oh yeah and any other type of animal that just might randomly

[00:27:44] come across that's a great idea. Thanks Amber, love you lots. Thank you. I hope you've been enjoying

[00:27:49] this podcast. If you like what you hear please share this show with your people and please make

[00:27:56] sure to rate and review it on iTunes or wherever you get your podcasts. You can also head over to

[00:28:01] Instagram, Facebook and Twitter to connect with me and stay updated on the show. If you're interested in

[00:28:07] sharing your story or if you have anything you would like to contribute please submit it to my website

[00:28:12] feparks.com. Thank you so much for listening to the show and for supporting me along the way. I

[00:28:19] appreciate y'all so much. I don't know what kind of day you're having but if you need a little

[00:28:23] pick me up before it's got you.