Hello and welcome to the If We Knew Then podcast I’m Stephen Saux,
And I’m Lori Saux.
And today we’re joined by Dr. Brian Skotko from the Massachusetts General Hospital. He runs the Down Syndrome Program in person clinic there and has also launched DSC2U, an online personal care plan with the intent to bring the best of health and wellness information about Down syndrome to caregivers and primary care physicians around the globe.
I hope you all enjoyed listening to this because Brian’s a physician and I think that is the community that we really need the support just for research and for the dissemination of information and even right at the very core and the beginning of this journey. How do we receive our diagnosis. So this is going to empower you and I’m excited for you and I’m excited for us and I’m excited for our community. So sit back and listen and enjoy our conversation, the first of what I feel like is going to be many conversations, with Dr. Bryan Skotko.
Hello Dr. Bryan Skotko. How are you?
Hi Stephen, hi Lori, how are you ?
We are wonderful.
I can’t wait to begin our conversation thank you so much for your interests I really appreciate it.
Well we came across you on on Twitter and I saw an article about the DSC2U and I just was fascinated by it and so I reached out I really appreciate you getting back to us.
Of course thank you.
We’d love if you would just tell us a little bit about yourself.
Sure so my name is Dr. Brian Skotko, I wear many hats one of the most important hats I wear is a sibling so I have a two sisters one of whom Kristin has Down syndrome and in many ways she’s been my life coach and she’s to thank and blame for everything I’ve taken my professional life. I had this dream when I grew up I wanted to be a doctor for and with people with Down syndrome and I’m so lucky to be able to have that job today. So I am the director of the Down syndrome program at Massachusetts General Hospital and I get to take care of hundreds of patients with Down syndrome with my colleagues.
Well we went to Boston a couple years ago and we love Boston. We got to visit Harvard and Sophia, our daughter, was excited about visiting Harvard Liam too. We got Liam a Harvard tee-shirt and that’s something that actually Lori said from the get go, I remember her saying that when Liam was born not only can Liam go to college, he can go to Harvard. So we may be looking for some letters of recommendation from you.
So your sister is Kristin and can you tell us about how she influenced you?
I just remember as a very young boy that my parents would have all of these other parents come to the home and there would be someone that was seated in the middle of a circle and they would be talking all about Down syndrome and I would be listening on the outside what are they doing in the same parents were made over and over again and then I started to realize that was a parent support group and this was before the time we really had main establish down syndrome nonprofit organizations and I’m so grateful for people like my parents and so many other parents around our country who were the pioneers to be able to stitch together all of these nonprofit down syndrome organizations and so I grew up in the down syndrome movement and I really no wife no other way and meeting so many of Kristen’s friends going into her athletic events going into the holiday parties meeting the families meeting the siblings I was formed as a human being by Kristin M. by so many people are like curry and I’m just very grateful for the lessons that I’ve learned from Kristin so many others with down syndrome can you tell me a little bit what you mean by the down syndrome this meant you know I like the word movement because we’re moving their things to go we’re not settled right we want more because people with down syndrome continue to tell us that limitations are getting in the way not their genetic limitations but the limitations that our society has placed on them right and so if we become comfortable if we sit back and say okay we’re in a good place that we have failed people with down syndrome because we need to move with them but we need to advocate with them and we have great for fathers and for mothers who have built a strong downs in a moment but the ball is in all of our hands to continue %HESITATION to pass that torch on and on until we kill people with down syndicalist a fully deserve this is it this is a part of our conversation that we have is that what we see in the down syndrome community on a lot of the pages that we visit our debt as a community there’s a certain part that we still carry with us the limitations that have been put upon us and and people believe those because a lot of times that’s all they hear so when their child is still in utero that negativity that goes with a diagnosis and I feel like because of that we just keep we push forward and carry that with us and then it propagates it and then people actually believe these are our limits and we see it says you know if this is what I believed then that’s what my child’s gonna believe and on and on and on and so I I love what you’re saying because this is it’s so important and I would have loved to have been in that circle forty years ago because I can’t imagine the conversations because the limits were so much more profound than I I so agree with you Larry we have to set expectations rather than limitations and those expectations I firmly believe have to come from people with down syndrome themselves because they continue to show us that that extra chromosome has not changed over time at all but what people with down’s into marketable to do today in comparison to yesterday is phenomenal and Max because we society are believing and I’m and we’re giving them the space and the potential to resources and the support to be who they are and Stephen you asked about down syndrome clinic to you where this comes from yes I’m lucky enough to be you know a down syndrome specialist I’m a medical geneticist and I’m trained to know how to take care of all the co occurring conditions that go along with down syndrome and I really wanted to build an in person multi disciplinary one stop shop clinic that I have at Massachusetts General Hospital right and I’m so lucky that my team and I get to see about six hundred patients of all ages are every year right here’s the truth there seventy one of these down syndrome specially clinics around the United States and when you put all of us together combined at maximum we can only see about five percent of all people with down syndrome in the United States and one of those people that all of us can say is my own sister because my sister needs to travel more than two hours from where she lives to get to the nearest adult down syndrome clinic so ninety five percent of families out there who have loved ones with down syndrome do not have access to one of these down syndrome specialty clinics and often times people say well I don’t need one of those because I have a great primary care doctor my pediatrician is great my internist is great we really love our doctor right and I’m glad you love your doctor but research over and over again shows that when you’re just working with a primary care physician primary care physicians only keep people with down syndrome up to date on less than ten percent of the basic recommendations and this is not to throw darts at hardworking primary care doctors the most primary care doctors only have one or two patients with down syndrome in their panel so it is impractical and unreasonable for us to think that primary care doctors are gonna know everything they need to know about down syndrome that’s right we always feel like we get we have a wonderful primary care physician but we do ask her questions but you know specifically when it comes to down syndrome we do a lot of research on our own because where do we go for that so the idea is that anyone anywhere can access this clinic online so obviously it’s it’s anywhere %HESITATION it’s English speaking at this point only right now we were fortunate we got a grant from the government over two million dollar grant to create this in both English and in Spanish which was really important for us to make it accessible and went down to the clinic to you is not telemedicine you’re not gonna seem you’re not gonna see my colleagues but it is real time curated information so we’ve spent three years down loan in our brains of every question we ask families and people with downs and when they come to clinic clinicians downloaded the prince nutritionists physical therapists occupational therapists speech therapists social workers nurses psychologists everyone is part of our what are all those questions we ask that you combination lead to some recommendations so for example if someone is eight years old with down syndrome snoring at night and tired during the day I have learned that that pattern might potentially lead to obstructive sleep apnea and out of my mouth in person would say we need to consider getting a sleep study test why do you need to make an expensive trip to Boston for me to give you that information right so my colleagues from around the country joined us in downloading all of the decision making we do in person to put it online and so when parents access this online they will enter all their questions and concerns about their level went down syndrome and they will get personalized checklist better as though you’re seeing awesome person with direct links to everything that we recommend and more importantly they’ll get a counterpart checklist for the primary care doctor because what we want parents to do is every time you have your annual wellness does that for your level with down syndrome go down to the clinics you get the checklist take it to your primary care doctor and we’re gonna turn your primary care doctor into a dance instructor now there is a nominal fee as a forty nine dollars which is I mean that’s a lot of people’s copays probably for a visit this is a nonprofit where does this money go to it goes back into the system absolutely there is a whole team behind the scenes who needs to take care of down syndrome clinic Teo so it helps pay for all the engineers to help desk staff and people who make it possible but we also note that down syndrome clinic to you needs to be up to date because parents wanted to be up to date and so every time there is a new credible research paper that comes out we’re gonna read it we’re going to update the algorithms and so the revenue that we raise will be reinvested in down syndrome clinic to you to keep it up today so three years from now if you’re living in Japan and you access down syndrome clinic to you you should have the full confidence that as of yesterday it has the latest information about down syndrome from Harvard Medical School so what we want to do is really democratized health care for people with down syndrome so that no matter where you live you’ll be able to get that same level of up to date accurate information and care and I think that’s important because at the foundation of down syndrome and it’s perception if if you start getting into the medical community and they’re able to support people in a better way in a more up to date way in a more empowering way then you’re gonna see a community also shift in their ability then that’s going to shift in the perception of what down syndrome is or I couldn’t agree more I think everyone deserves to be healthy and well and I don’t feel you can be your true self any of us until we’re healthy and well give me one example there is an adult with down syndrome who utilize downs and connect you with her mother from %HESITATION Texas and she said for the past five years he just hasn’t felt good stomach hasn’t felt good she went to see a lot of local doctors she went to see a lot of nutritionists and just wasn’t feeling good when you’re not feeling good you’re not performing your best work performance was starting to fail she just wasn’t who she wanted to be she went through our online %HESITATION clinic and how one of the recommendations she got is usually really have a discussion with your doctor about celiac celiac disease is an autoimmune condition that goes along and five percent of people with down syndrome it’s where the body reacts to certain ingredients like barley rye and wheat she got the testing done sure enough she did have celiac disease she went on a gluten free diet it’s just that for the first time in ages she felt better and %HESITATION mom said she was performed better she was just light a like the constant buildup right and I know you talked to any downs of the specials of course we know celiac disease goes along with Johnson but that’s because this is what we study and we were able to bring that knowledge on to the local providers that she could be hope you’re well let me ask you a little bit about that so you %HESITATION the parents receive a referral and I’m just thinking from a medical point of it you know you have insurance so when you give a referral when they get a referral from this list this is something that then they bring it to their Dr their primary care doctor or is that an a referral because a lot of times insurances require referrals in order to get any anything like that or any further tests how does that usually work so anyone right now to go to Johnson clinic to you and when they complete the form every parent will get access to care giver to a personal portal and in their portal or to Chuck close one for the care giver thanks all the recommendations and not just medical recommendations but just like a certain person clinic as a whole wellness clinic we have information on how best to educate people what counts and how do you teach numeracy and map the people with down syndrome what is the best nutrition what are the life skills someone with down syndrome wants to be their own independent south how do they learn that things about sexuality in education and Ms Dalton road and and all that so we have that all packaged in there for the parent and then we also have a checklist in the portal for the primary care doctor same recommendations but doctors want a written and doctor talk so now rather than saying oh we need to screen for celiac disease we tell the doctors you need to look for T. T. G. I. G. A. N. I measure this in the park right and so the goal is Karen’s could use their checklist to learn information do things on their own but then they could also take the companion last to the primary care doctor no referral needed you take it your primary care doctor we are already having your wellness visits and then they could go through that checklist with them do you find doctors being receptive of these less I am glad you asked that because when we first created us we were a little bit nervous that what physicians think oh here goes Harvard again trying to tell us what to do right and so as part of this grant we got primary care doctors from around the country to join us in the creation of this we also have people with down syndrome and parents help create this and boy is a good decision because I spend all my writing the perfect paragraph and they would rip it apart you know it’s it’s I I can’t understand what you’re saying and the doctors would say you know you know take out the flower early language just tell us what to do so was heavily edited by both of those groups and we actually did a research study so we had two hundred thirty families from around the country signed up to test us half of those families got access to down syndrome clinic queue the other half did not and we followed those families for about a year we surveyed both them and the primary care doctors and the families to utilize down syndrome clinic to you don’t love ones with down syndrome were more up to date and had more of the medical recommendations implemented we also surveyed the primary care doctors have said what did you think about this and this is where we held our breath but they came back and they overwhelmingly said thank you you know you made it easy it was you were being pedantic and that’s where I worked on the language you were being helpful you still respected the patient doctor relationship so they could still reach out and say now this doesn’t really apply but it really serves as a catalyst and hopefully a springboard for them to engage in that information we just want to impart that knowledge and self overwhelmingly the primary care doctors have told us that they’re very grateful for in the website that people can go to for the program we try to make it easy so D. S. C. the number two U. dot org so down syndrome clinic two U. dot work well put that in the show notes obviously one thing I wanted to address was the co occurring issues that you talked about that are prevalent in people with down syndrome you know that’s a list that is often looked upon and presented as a list of limitations and I know that I was given a little bit of a list when Liam was born and because of the delivery there is %HESITATION a hindrance not a hindrance but it’s just it’s a weight but I feel like with that list if it’s presented in the correct way of here some co occurring this is what we can how we can address it can empower at the parent and it can empower the person with down syndrome to say like if I know that this is something I’m prone to then we can turn we can turn that information from being like a negative that’s given to parents to hinder them to being something that’s an empowering tool that they can use where I live your plate because I truly believe knowledge is power but it depends on how you present it right and there is a whole laundry list of thousands of co occurring conditions that could go along with down syndrome and people with down syndrome to have all of those but every single person is not going to have all of those and I find that parents just get totally overwhelmed and it all becomes blah blah blah as you list everything right there are medical books about every medical issues related to down syndrome but I find parents are not ready for all that because after chapter one it just becomes so overwhelming what we tried to do in the online down syndrome clinic to you is what we do in person and that is we hear what your questions are right now with your what your concerns are right now and we give you only those issues that we need to focus on based on the here and now we want to play offense rather than defense we want to make sure we’re thinking about things but we also don’t need to be overwhelming and thinking about too many things that aren’t relevant right now and you know so much of what we do is not just medical but it is also psychosocial cycle educational and many times adolescents and adults with down syndrome do develop co occurring mental health issues and we must not let those get in the way what we don’t accept in person we should accept online in our clinic some people say oh that’s the way they get when they get older %HESITATION that’s the way it’s with down syndrome no maybe that adult with down syndrome also has generalized anxiety maybe that adult with down syndrome has obsessive compulsive disorder maybe that teenager has generalized anxiety disorder right people with down syndrome deserve to be recognized and treated for some of those co occurring mental health issues in there a lot of behavioral approaches B. April supports but also a lot of medicine that could be helpful so we also she’s a part what is down syndrome and autism looks like what is down syndrome and obsessive compulsive disorder look like and one of the sections of down syndrome clinic she we ask those behavioral questions like we went in person to hopefully give some guidance so that the parents to pursue some other co occurring conditions up can I ask you are there any grants available because for you know forty nine dollars could be a lot to some to some people are there any grants available for people who want to utilize the clinic but just don’t have forty nine dollars specially right now with the pandemic so I encourage everyone to contact their local down syndrome nonprofit organization because many down syndrome organizations are actually buying discount codes either in part or in full many Johnson organizations that we do this fundraiser we do all of this and what better than to give the gift of health so we have lots of down syndrome organizations by hundreds of coupons that they’re distributing to their members in order to take that cost away so first check in with your local down syndrome organization in one of the down syndrome organizations that has purchased a lot of codes is the little mind I DO see down syndrome foundation so if you’re not a member of them I know what they’re offering I’m discount codes to their members as well but another thing my team and I are working on in the future is to get insurance companies to be able to pay for this right because it’s a win win for everyone insurances would rather pay for this and have you taking expensive trips to see me in Boston right and so we’re in conversations with insurance companies from around the country and hopefully within the next couple of years you’ll be able to see on our website a list of insurances that will fully subsidized so you enter your insurance information you get billed nothing and we get reimbursed from the insurance company but this is a work in progress as many good things are in our community can you repeat the organization that has bought a lot of codes for people so they can look that up sure the little mind ideas see down syndrome foundation no mind as al you am I and D. and then another one our appreciation I D. S. C. and then down syndrome foundation work you just Google no my down syndrome I’ll come up on your browser they’re one of our national down syndrome foundations who really are spearheaded in great research related to down syndrome I’m so excited to visit your program because you’re answering a lot of questions like how do you teach someone math hot water the PTA noting and those are some of the information that we try to put out there to the community because that can like you said become very overwhelming and it’s great that you have it all right there it also is telling people that it’s possible because the answer would be there if the if it wasn’t a possibility but there are questions of what the ability is and so I thank you for that I would say another thing we found is helpful as not only just giving not just but also giving resources right so it’s not just enough to say how I think your son or daughter might be low on their five right but here’s also a link to a free video about I write it down syndrome and here’s a link to a fact sheet about I write in down syndrome and here’s a link to better understanding so we’ve combed the internet universe for all medically credible and trustworthy information and we’re going to also deliver that to parents when they need it because I hear from so many parents know there’s so much out there I don’t even know where to look and we’ve been looking at this over and over again so we can do the looking for you we could do the searching for you we now what are the credible trustful sources for you we also heard from parents no one has time to read anymore the whole novels the whole box so when we say here’s a resource will actually tell you just read page one eighty one to one eighty five of this block because it has the answers you need so we’ve been that’s specific in our recommendations that’s wonderful because I have to tell you as parents you get overwhelmed I mean you know you probably have had some conversations with the with your parents even back then that if I was told everything that could possibly be a health risk for myself I can very quickly get pretty obsessed about that and overwhelmed and that’s not gonna make my health any better so it’s nice to get answers and what I hope is that people could come back to down syndrome clinic to as often as they want so the questions of today you might have different questions next year you know as Liam gets older your questions as parents mine involved so I really do encourage everyone you can go back to downs and cling to as often as you want but going once a year right before that wellness does that with the primary care doctor you’ll find that you’ll have a new set of questions because people with downs and get older and as they get older the milieu of different sort of concerns from parents start to evolve and you would say at the difference between the information that they would get from you and then from just their typical doctor just to to clarify that’s that’s just something that a primary physician wouldn’t be able to act wouldn’t really have the time to access all of this up today and yours is going to be up to date and prevalent to what’s going on right now what therapies are out there and and whatnot we want primary care doctors to help take care of the other forty six chromosomes that’s what they know best we’ll take care of the extra chromosome because we know all the other co occurring conditions that go along with that and how best to maximize life so we want to make it easy for parents and easy for primary care doctors what did your research teach you about down syndrome yeah the research for down syndrome clinic to you taught us that parents are hungry for good acting information every parent wants the best for their loved one went down syndrome but we also were able to see there’s a lot of disparities within our community right those who live near a down syndrome clinic which are often times clustered in the wealthier communities and in the big cities have access to that information but we hear from so many parents and when I get to travel when we used to travel pretty covered or around the country I heard from families and so many community say but we don’t have one of those down syndrome clinics and I still love my child more and I feel like I’m not being the best car because I’m not up to date and how do I find out information I just feel like I’m behind and that’s just crushes all of our hearts and with modern technology there’s no reason why a parent should feel that they’re behind so we want to bring health care to you so you don’t have to come to healthcare and so we’re really flipping a table on the way that we deliver health information about down syndrome what would you say to those parents who who feel behind as a as a sibling and Ian as witnessing your parents being a parent is hard and I tell parents don’t beat yourself up there are days where you just feel like why I don’t get anything right and there are other days you feel like you’re doing great and those are all normal feelings and I also tell parents who come to see me in person that when you go online or when you check out social media it is as though everyone in the world is having a perfect day and the person with down syndrome is just achieving milestones but let me tell you behind the scenes they all come to see us in clinic and they’re all having bad days at times so if you’re having a bad day that is normal everyone has a bad day but I want the parents to know that there are resources out there and it’s just step by step we get there together and I’m hoping down syndrome clinic Chiles takes one thing off your worry list and that is ensuring that the level what down syndrome is really getting the best healthcare they possibly could yeah well I love your advocacy I mean obviously it’s driven by your relationship with your sister that’s why we’re here because of our son you she’s forty now what have you seen in the past forty years changes in dances or maybe perceptions and %HESITATION of society you know when my sister started education and the concept of inclusion was farthest from anyone’s dreams right so Kristin wasn’t a substantially separate educational classroom %HESITATION for most of her education and now we all know that it is a standard given right through federal law that people with down syndrome be educated and with their narrow typically developing peers unless parents one otherwise to the whole educational system has really changed the whole way of us you know practicing medical care has changed so people with down syndrome their lifespans are now approaching nearly sixty and that’s again not because the chromosome has changed because we’ve done a better job figuring out how to keep people with down syndrome healthier and happier throughout their lifetimes I’ve also seen people with down syndrome my sister’s age start to be pioneers again so now they are done with school they’re done with college they’re done with post secondary there in the communities they’re educated their co workers %HESITATION they’re really teaching the community how practically wonderful ideas to have people with down syndrome and battered but I think one of the biggest changes is how normal things could come because down syndrome way back when was extraordinary was different it was a disability you know just accept drop but it often times love see so many families who just say what just like anyone in our family we don’t really notice anything and we don’t often feel we have to go to down syndrome events because we just got a regular events in our community right and it’s so nice to see all that advocacy %HESITATION somehow dissipating some of the identity and allowing the true identity just to be the uniqueness of the person and not having the label of down syndrome the present now we still have a long way to go there’s still lots to be done because people with down syndrome tells there’s lots to be done we’ve had made a lot of progress what do you hear people with down syndrome saying needs to be done people with down syndrome %HESITATION especially in the teens and adults will tell us that I want to be recognized and I want to have friends like everyone else I still think there are some barriers to friendship and sometimes that come from practical considerations such as transportation barriers they might not be able to a driver have transportation like other individuals %HESITATION it might be %HESITATION money related issues that are how often can they go on dates and do they have the ability to do so do their parents let them fly from the coop to be able to do things that are typically developing peers would you so I see a lot in our teenagers and adults this this urge this quest for being a semi independent or independent as possible which is a wonderful thing because that is something that you hear from I typically age I have people that age I’m I also hear from a lot of self advocates that they really want to make sure that when they get older they don’t have Alzheimer’s disease we know that Alzheimer’s disease occurs and about fifty percent of people with down syndrome around the age of fifty and they work so hard they do everything right we don’t want to lose it Alzheimer’s disease many people might be listening have a loved one with down syndrome maybe as an adult and has Alzheimer’s disease and they know they’re not alone and there are doctors out there in a community there to support them but I think many of us are working very hard with people with down syndrome on clinical trials on research on benchtop research to make sure that people with down syndrome one day will not have to develop Alzheimer’s disease I’m picturing your your space at mass general the downside to program I’m imagining every day you go in there and seeing people in the lobby from all over the world possibly with down syndrome being able to work with people and that would desert him it just brings a smile to my face it’s really amazing thanks to god I am so fortunate to have the job I have because you know that the patients and their families really philosophe with goodness there are teachers I mean the minute we think we know what we’re doing we’re behind the game so we have to continue to learn from families and from people with down syndrome I have to say during the pandemic we’ve been able to continue seeing our patients through them but it’s not the same as a person and I can’t wait to return to the lobby where people are safely there because there is %HESITATION a special warmth that comes from the now let let me ask you because you indeed spoken to some of the the ones that you see in the community and your tapped a little bit about your sister when she was in school and I want to get from you hind sight of what you’ve learned how did a non inclusive environment affect your sister and when did her environment becoming close of and again how did that affect her I think the non inclusive environment cements in certain ways a different house so you are in a different setting you go to that different school right which people with down syndrome somehow some way in those settings I think start to realize to different levels of capacity my parents did not have any other options at the time which in their area where we lived and my mother is a teacher so she very much knew the school system and so the parents and the pioneers at the time try to make sure that inclusion happened in other settings it happened on the athletic field they happened in social circles that happened at parties and certainly that happened within households Kristin was among the first wave who had experiments with inclusion and often times didn’t work in her case it didn’t work because when someone starts inclusion for the first time and the community starts up for the first time when you’re in high school when people and peers could sometimes be cool too differences it was a cruel %HESITATION a difference for her and it didn’t last long because it wasn’t fair to her well what we do know now when we fast forward is my patience with down syndrome who are about three years old and ready to begin preschool will begin preschool inclusionary starting your Massachusetts their peers without down to normal no wife no other way and when you get to kindergarten and first grade and second grade and third grade and you make it all the way up to high school we will have a generation of classmates who just know that’s the way our classrooms as we have people of all different backgrounds all different abilities who are there and this is why I am so excited about the future of the future has to get better and that’s because not only people with down syndrome are achieving new milestones but because the people who are co educated with them are getting a front row seat at what the possibilities are so this is this is the benefits of inclusion that we have now that we didn’t have back then when did that change as far as seeing inclusion that you saw because we know that the law changed to have an inclusive environment and to have the sports there an idea and yet we’re constantly having to be on top of it and I know a lot of parents don’t don’t have it they don’t have the where with all its its it is a you know it’s challenging so when did you first see it actually starting to take seed yeah I think there was never a light switch moment where was turned on I think it was gradually played out %HESITATION throughout our country and as you point out we’re not done yet and there are still places in the United States where parents have to advocate and fight harder than others I think within the past twenty years is when we’ve seen an acceleration of what happens because one is you first have the law which is the individuals with disabilities Education Act or ID Hey that says people with down syndrome have a right to be in the least restrictive environment right inclusionary classroom which supports well that’s nice on paper but you just can’t throw someone with down syndrome into a classroom and said good luck right they need to make sure that the classroom is support of that the teacher is excited and willing and trained to be able to teach to different educational modalities to have the support systems in place you make sure that that person what down syndrome is set up for success right and so we’re still have classrooms around the country as I hear from parents were yes people were down Cinemark technically in classrooms but there with their you’re a typically developing counterparts but they’re not giving us the resources to sixteen and this is where you see inclusion fails right and so we still have a long way to go but I think we made a lot of progress because we now know what’s the best educational pedagogy we now now what are the supports that people need we now know how to support them it’s a matter of implementing them and unfortunately oftentimes resource if you see the disparities across the country between well resource communities and I’m all resource communities do you guys give out referrals that can be taken into IDPs because some you know just from a doctor saying this is this is the best thing for our society this is the best medical route to go so in our in person clinic a member of our team is also a neuro psychologist and at times it can be very advantageous and helpful for someone with down syndrome to get a neuro psychological assessment to learn what are the strengths of their learning what are there areas in most need of support and from that we’ll become personalized recommendations and that will go back to the parents who could then give it to the educators and say here are the recommendations on how best to support learning in our in person clinic we also are fortunate to have an educational consultant so for families who are in our clinic can’t afford to have an educational advocate advocate within that classroom we have someone who could be an extender of our clinic to work with families to make sure those recommendations get implemented and just to be clear that personalized approach that I talked about with the two people are from the people in my in person clinic but those people who helped created the in person clinic have also uploaded their brains to the extent they can online so people feel that out we might say based on your question it might be helpful getting a narrow psych assessment from someone in your area based on your information you might consider an educational advocate but also here are the best resource is and how to teach math just a moment counselor you’re the best resources on how to teach reading so to the extent that we can personalize it we really do try to do that but we also will name the person or names of the expert that might need to be sought out in your community if you can’t make it to a downturn center like ours what are the future plans for your %HESITATION downsizing program at mass general so our clinic right now we want to make sure that we’ve become as stable and is in doubt as possible because here’s the truth the down syndrome clinics that are out there the seventy one not a single one of them is financially sustainable they all lose money for the respective hospitals and slowly what were seen over time is down syndrome clinics are starting to close down and so what we really need to do is to preserve a couple of in person clinics so that we have people on the ground seems some patients so that they can upload their thoughts into the virtual reality so I’m spending a lot of time making sure that I could secure war %HESITATION and philanthropic please speak your mind in person clinics we have that for time but our clinic is also engaged in a lot of research so we do a lot of clinical trials for and with people with down syndrome making sure that we improve aspects of sleep apnea making sure that we’re testing the vaccine that might prevent Alzheimer’s disease one day and people with down syndrome so we very much want to bring research to families who very much want to engage in research so those are two of my goals I want to advance our knowledge and at the same time secure or aren’t you in person staff if someone wants to participate and the trials and is that on your website as well or do you do you have that information yep you could certainly go to our website where we list the trials that were participating then parents could also go to a website called clinical trials dot gov which is our government’s web page where you can type in any condition down syndrome you could type trouble policy could have autism and all of the register trials will come up so it’s a one stop shop if you go to clinical trials dot com and then also that large national nonprofit organization I mentioned little mind idea see down syndrome foundation they also are the curator for parents everything related to research so I encourage parents to sign up for their free E. newsletters so you get the information so you’re you’re not missing anything and since we’re on the the topic of of medicine one of the challenges of being a mother who’s pregnant and gets a diagnosis or even before a diagnosis what do you say about the heavy handed inappropriate and an accurate advice that’s given to two parents I hear you and I know that unfortunately doctors are still not delivering the diagnosis in a way that’s most compassionate my colleagues and I we did research about a decade ago were resurveyed thousands of moms and dads from around the country and we asked how did you get a prenatal or postnatal diagnosis of down syndrome and the overwhelming majority of parents that what you said Lori and that is they received inaccurate incomplete and oftentimes offensive information about down syndrome we can do better we do now have up to date guidelines for physicians on how do you deliver a diagnosis of down syndrome in a compassionate way both prenatally imposed daily we do have webinars I’ve done them for physician training as we do have the information that’s out there you know scattered around the country we have parents first call programs for parents organizations are trying to educate clinicians and also let them know that they’re standing by for those referrals so it takes a community effort to make these changes but there’s still more work to be done and so I’m very dedicated we have a lot of parents around the country who are trying to make that change to educate I will say that there is a research paper that just came out this past year that puts it into perspective receiving a diagnosis of down syndrome is considered a flashbulb memory what is a flashbulb memories urologist state it is a memory that just is like the flash what comes on you remember every detail you know what that doctor was wearing you know what that doctor was looking like you know where you were you know what they said you know the exact first sentence it is more salient in the memories of parents in an event like nine eleven in the United States and nine eleven people say I know where I was what I was doing what was happening getting a diagnosis of down syndrome is more selling more of a national memory cell clinicians need to think about how they deliver those words because they will be remembered for a lifetime what do you say to parents have just received a diagnosis in a terrible way what do you say to them so when it when they come to see me I listen to their story because it’s important to make sure that I hear them and then I stayed for some parents sometimes it’s enough for other parents they say you know what everyone is learning to what extent do you feel comfortable educating your clinician writing a note back to the doctor who maybe said words in an intelligent way or an offensive way to say how you feel and how those words made you feel because oftentimes physicians don’t even realize that the words may come across the fence and some parents are ready now some parents are never ready some parents will write that note two to three years later so I do try to empower them to do that and then some other parents say I don’t want to let this happen again in may volunteer for these parents for school programs so here in Massachusetts we have an army of parents who are trained twenty four seven to be on call so when anyone gets a prenatal and postnatal diagnosis of down syndrome we want their clinicians to stake can I connect you to another parent if that parent is ready then we have these other parents were making the experience better for the next generation and oftentimes it’s translating your negative experience into an empowering one for the next generation that’s beautiful and I and I also appreciate your work in trying to inform the medical profession as well because it I think it does come from within that’s how we’re going to have to change so just for our listeners there’s there’s those are two great options to to change to make a change instead of cause I know sometimes you just carry it around with you and instead you can make a change and you don’t own it anymore you can write a letter which I think is so healing and also volunteer for one of these programs and make a change that we just pay it forward and I would encourage parents when you write that letter sometimes it’s giving out your emotions which I understand %HESITATION but sometimes the first letter you write is not the first letter to mail sometimes that first letter needs to get it out and then at the second or third copy %HESITATION that has the best I’m encouraged you to say what could have been sad because I think clinicians often times here %HESITATION you should have said it that way but teach the clinicians what would have been better words you wanted to hear because I think we need to replace a negative example with a constructive one yeah I like that I like that a lot and I would just say to the both of you your podcast I really enjoyed listening to them and we’re actually going to bad several the podcast into future de Estudios so what we say okay here is this now listen to this podcast will curated so the thing that you’re creating are definitely could be incorporated into future versions of the estudio thank you that’s a very encouraging because that’s what we want we want to we just want to empower change we’ve had so many just great gas you know the the gentleman who just ran the Iron Man a gentleman whose father had down syndrome our whole clinic listened to the man from Syria and it was that was an extraordinary interview wow isn’t he a beautiful human and the love and compassion that that man has is just I mean that that needs to be there needs to be more of that in the world so the podcast is named if we knew then so we always like to ask our guests and if we knew then question did you have a did you have an if we knew that statement that you would like to say so if I knew when I was two years old that my life would have Dan so extraordinarily impressed by someone with a different chromosome I wind up believed at that now my whole ecosystem revolves around people who have down syndrome and I’m %HESITATION I continually I continue to be a student %HESITATION and I continue to learn and life is so much better because people with Down syndrome are in my orbit.
Dr Brian it’s been so nice having you on the podcast.
The time really went by way too fast.
Thank you both this is really extraordinary I really appreciated the opportunity to chat with both of you.
As have we. Thank you for everything that you’re doing in the community and for giving this tool to parents and families because I hope everybody takes advantage of it and we’re so thankful for what you’re doing.
Thank you both.
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