Transcripts For CSPAN Down Syndrome Hearing 20171224

Purpose of an introduction. Thank you, mr. Chairman. If it pleases the committee i would like to first of all disclose that sometime around 11 00 oclock i have to depart early for a previously scheduled meeting but i do want to take just a moment to recognize a young lady in the audience today in each one of my colleagues have been provided a nice glossy bio of this young lady for the benefit of the rest of the audience and for hearing purposes to recognize mary would form an now she is in the back [applause] mary is a freshman at the university of arkansas. [applause] we dont have to holler sue here and we dont have to call the hawks today but given our record in sec right now we probably shouldnt be calling the logs right now but that said the information provided to each of my colleagues so states this is a very special young lady doing very well in her College Studies at the university of arkansas and while she is not on the dais today and not one of the people testifying she has just a terrific story so i commend her biographical information to each one of my colleagues and i want her to know how honored and pillaged we are today to have her in our audience. Mary, thank you for how you present our great state in this cause and welcome. [applause] thank you, mr. Chairman. Are you back. Thank you. Good morning. My pleasure to welcome you to the committee for the hearing to discuss the state of science for down Syndrome Research. This hearing is timely as october is down syndromes Awareness Month which is the type to stand awareness of the accomplishments and abilities of people with down syndrome. Today we will have two panels of witnesses in the first Panel Includes three fellow members of congress who were tireless advocates for improving the lives of individuals with down syndrome. The second Panel Includes researchers and advocates who are committed to expanding our knowledge about down syndrome and related disorders improving the quality of life for americans with down syndrome. Research on down syndrome is increasingly important because of the number of births of babies with down syndrome increases in the lifespan of individuals with down syndrome expands we are likely to see a large increase in number of americans living with down syndrome. Research targeted at further understanding this disorder will contribute to improving the lives of individuals with down syndrome. Additionally, down Syndrome Research has the potential to contribute to our knowledge of a variety of other diseases and disorders that affect all americans. We will hear more about this Exciting Research today is pleased to introduce the witnesses to our panel and it seems odd to read your introduction, mr. Chairman, but i will do it. Esther Pete Sessions as chairman of the House Committee on rules and im proud to say im his vice chairman on the committee. He is the proud father of a young man with the name of alex we all have met on many occasions has down syndrome. Mr. Sessions has been a passionate advocate and leader in congress for people with disabilities and the lead sponsor he worked tirelessly to enact the family opportunity act of 2006 which gives states the option to create medicaid buyin for low to moderate income families with children with disabilities. Hes a cochair of the congressional down syndrome caucus serves as the advisor to the president for Special Olympics in texas and served as a board member of the best Buddies International and all of us know him here is one of the outstanding leaders of congress. [inaudible] represents illinois 17th Congressional District and the cochair of the democratic policy and communications committee. Shes also the cochair congressional down syndrome caucus and again as distinguished member with an extraordinary record. I will introduce kathy even though shes not here. Kathy is the Eastern Washington chief advocate in congress as chair of the House Republicans conference which is the fourth highest ranking republican in the house and the highestranking woman in congress. In 2007 she gave birth to cole rogers. Cole was born with his albany 21 and inspired her to become a leader in the disability community. She is also cochair with the down syndrome caucus and played an instrumental role in ensuring passage of the able act in 2014 which created tax free savings accounts for empowering individuals with down syndrome to invest and empower their untrained future. Michelle is the cofounder and president and ceo of the global down Syndrome Foundation as well as the executive director of the anna and john Jc Foundation which is the largest private funder of grants for down syndrome related research. The doctor espinoza is the executive director of the yeah, okay. Institute for down syndrome and hes also a professor in the department of pharmacology at the university of colorado and shoots Medical Campus school of medicine. Doctor William Mobley has a distinguished professor and neurosciences at the university of california san diego. He also serves as the executive director of the us csd is down Syndrome Center for research and treatment. Mr. Frank stevens was awarded the quincy jones excellence in advocacy award by the global down Syndrome Foundation in 2016 as an advocate he spoke on all over north america and europe promoting the inclusion of individuals with intellectual disabilities. As a reminder to everybody when the regular panel gets up here there will be star of course i have the stars in front of me and ill pay for that later im sure but when the Expert Witness panel gets here we will be operating by the fiveminute clock but our colleagues here obviously have very busy schedules of their own. I will allow them to give their testimony is to open it up probably for any comment or question. We wont hold them to the normal rigor of our routine so they can get about their business. With that, mr. Chairman, it is a delight to have you here as my good friend and i now recognize the strong voice for those with disabilities across the spectrum in our country and the gentleman is recognized for whatever opening remarks he would care to make. Chairman paul, thank you so much. Im delighted to be before you not just i forgot i wasnt paying attention in my good friend the Ranking Member had an Opening Statement so i apologize very much for that. I apologize to my friend. Thank you very much mr. Chairman. I apologize to my colleagues as well but its a delight to have you here today and it is a distinguished panel and we really do welcome you to the labor hhs subcommittee and look forward to your testimony because a heartfelt thanks for your dedicated work in collaboration with this wonderful, Wonderful Community and a Generous Community and the support of research and effort to look into down syndrome. Im also pleased, as well, to welcome our second panel, doctor mobley, doctor espinosa and i want to recognize michelle president and ceo of the global down Syndrome Foundation. What an enormous impact on the lives of people with down syndrome that you made the research, medical care, education, advocacy and michelle, her family is with her today, mom and dad, inlaws, daughter sophia, son patrick, and i have to say mr. Chairman, i will her mom is from naples so ive got to recognize my own roots in this effort. It is wonderful to see you again. As a witness is made clear the potential for scientific breakthrough related to down syndrome has ever been greater than it is today and those breakthroughs are so important with individuals Face Higher Health risk including additional risk of congenital heart problems and vision problems and in addition those affected by down syndrome have elevated risk of dementia and alzheimers into the written testimony all of the manifestation of alzheimers is present in the brain from those by age 40 by age 6090 of those with down syndrome will suffer the effects of dementia those are heartbreaking statistics for their families and all of us and lets make our goal to be alzheimers free at the same time individuals with down syndrome are more likely to have hypertension or heart attack. And with the population as a panelist can attest those individuals who have down syndrome could help to identify treatments or cures that continue to kill millions of americans including cancer and cardiovascular disease which is why i have the honor to advocate and include report language in the labor hhs bill to encourage the nih to explore a transnih nih initiative to better understand the molecular, taylor and physiological mechanism for those born with the trice nominee 21 chromosome. That is important work that should not be silent from the single nih institute so that Promising Research crosses a wide spectrum of Health Conditions to be pursued of each of the research discipline that presents an opportunity for scientific advances to improve the health and quality of life and possibly to discover those that affect families every year. Our panelist calls this therapeutic leverage i hope we can use this to improve the lives of individuals with down syndrome as far as millions of others to suffer from delegatin delegating debilitating diseases. I just have to make reference at this point which is with 34 billion with a 2 billiondollar increase we have not kept pace with the Biomedical Research our budget has declined since 2003 adjusted for inflation. So with that our work is cut out for us as individuals with down syndrome in the scientific discoveries we need to take a look at the investments for the federal government and welcome to my colleagues into the panel that follows. [applause] thanks to the gentlelady for the testimony i apologize but i want to start once again with the chairman of the rules committee with the and also a very good personal friend you are recognized. And to those Committee Members who are taking their time to attend this hearing thanks to each and everyone of you i come to the table today as the father, member of congress that is interested in policy that is good for a lot of people and for america and i come to you today to give you insight for what the chairman and Ranking Member are doing today to open eyes and ears of people across this country who have recognized people in their community, maybe they go to their church or a neighbor but opens the eyes of the general public how important each of the people are who have down syndrome. They are persons and born just like you and i that were selected in a different way by god to be special people and some refer to the missing jewels very much not only to be respected but be included in the general attributes of society to make your life better. I think what you will hear over and over but a recognition of congress to turn not only their resolve into making life better for them but helping all people so i will tell you my son who is 23 years old cannot be here today we want to and smu Football Game he had a chance to be there he works for home depot so the Business Community has caught on there are attributes about each of our people that might include them in a work relationship but today we are talking about a number of factors including how the nih could be more involved in the research and advancing the things we know that exist within our down Syndrome Community and prepare all of us for the future but there are facts and factors about our advancements that make life better. You will hear from a very dear friend of mine who is been my advisor the guy that i prayed for because he makes advances and what he would tell you in 50s the average lifespan is nine years old. In the 80s it was at 25 now almost 60 that is because the attitudes of the American People including the medical community who looks at a person to think that perhaps they did not have the tools to adequately take care of them or perhaps a bias of the intellectual ability or maybe from their own bias of not really understanding the importance of that person but by you taking the opportunity to hear our story you will see there are people that are behind me all over our great land families that work in the down Syndrome Society when a new baby is born will make calls to say is i have done many times this is a gift and an opportunity as a parent to accept a relationship with a special person to try to grow them that only through a lifetime of activity that we could better their lives and so many others. While alexander is an eagle scout he taught each of those boys about life and the opportunities as any scouting experience that they have but i will also tell you now at age 23 does not remember one day of scouting. Some of the greatest memories he cannot even remember so he tells us we need to turn to research not just the medical community but to nih who can look at the general population of down syndrome people and began working on those intellectual areas not only of the brain but the receptors that allow the brain to function and talk back and for so that is the specialty type of work as members get into and i encourage you to please understand what is behind us here today is embodied by the cochairman of the down syndrome caucus. But please know how important todays hearing is to thank each and every one of you as a look at this committee i see not only colleagues that people who recognize that research and development pushing the nih interactions we think are important help them to not only develop their content and lastly we are very dear friends and i have seen her six different times as we talk about issues the nih handles they need 300 million more per year to give them a better opportunity to grow the Scientific Community of young people who have gone to college and maybe give them their first taste of opportunity to be a leader in this area for us to grow our young people so not only with the opportunity to discuss down syndrome but overall with a pot of money to offer seedling that would be helpful. My thanks to each of you at only for your kindness but as you make tough decisions about the direction of this country and i trust not only will you do that well but this body will support your activity by asking enemas consent anything in writing would be available today. I suspect young alex learned something from his dad who was also an eagle scout good to have you my friend. I just want to point out for the record my colleagues know this but we are quite often accused to be very partisan in Congress Sometimes that is legitimate but there are things that bring us to together and this causes one of them i am pleased to see a bipartisan delegation to advocate on behalf of those with down syndrome and their families my colleague is recognized. Thanks you in the Ranking Member for having us here at hosting us in the Beautiful People behind us the advocates of medical professionals and those who are here with down syndrome and taking the time today. Back home in my state of illinois mostly world we teach our own kids to make sure we are lifting each other up to build Strong Communities to make sure everyone has a chance to succeed no matter where they come from so it is important to me we treat everyone with value and in that capacity i am proud to be one of the cochairs of the Congressional Task force because it is the right thing to do it is a pleasure to be here today. I have met wonderful families and children and adults with down syndrome through the task force. One of my favorite stories in 2014 when just about everybody sitting up there the day we voted for the able act a colleague brought a young lady on the house or if you are under a certain age we can bring children on the floor with us. Instantly i had a bond with breanna and later found out she had some root in illinois so we were together we will put the card into the voting booth to say do you want to press the yes button . And it was that very vote that took us the number we needed to go over the able act so the whole gallery went not long not send it was the best vote. So i still keep in touch with her family i know most people know this already but for the record i hope what we understand about down syndrome that when somebody walks into the room they light up and they live long happy successful lives one week into his new job we are pleased to hear about that but also that is leading to this debate so while the National Institutes of health has seen tremendous growth funding has been somewhat flat so just yesterday i spoke with brad who said this entire family while they have made a full recovery she is still having a rough go so this is mines after her diagnosis and is still struggling to walk as a result. Her dad has to carry her to the table or to the restroom. Because they have a weaker immune system. There is Little Research into that part of the conditions of todays testimony will show wider so important to fix that people with down syndrome have remarkable differences with their health compared to the rest of us in the Ranking Member mentioned that but some of the Biggest Health threats are naturally resistant to all forms of cancer, almost never suffer heart attacks and high Blood Pressure is almost unheard of. So that may help scientists to fight cancer or address heart attacks additionally to help those in the longer and healthier lives. I did not know in the 50s the average age was only nine years old. So we are making tremendous progress but we need more. They live well past their 60s. Talk about dementia and alzheimers with your own sons memory already only in his 20s. But right now 100 of evil with down syndrome will show signs of alzheimers by the time they are in their 40s. To make this as a top priority and really do believe was a stronger commitment from congress these are some of the issues to tackle together. This is something that certainly does not need to have republican or democratic label so to be in a partner i am pleased to be here with my colleagues and i yield back. We have already done a formal introduction but if you forgive me note for the record what a delight it is to have you here and i once described the chairman as somebody who knows how to throw a punch with a smile she is extremely effective but this is a cause where she reaches across the aisle to play a significant role of the able legislation it is a delight to have you here. Thank you so much chairman and Ranking Member to hold this hearing on the potential for research of those with down syndrome. Not just them but millions of others as my colleagues have pointed out i am thrilled to be here to be in a room that represents the down Syndrome Community. My older son cole was born and tested positive for the extra 21 chromosome today is a happy and healthy fifthgrader mastered his multiplication tables and his classmates want him to be on the team he is in cub scouts on his way to becoming an eagle scout and loves to play basketball without research would not have the opportunities he does it begin when doctor downey 1866 a brilliant english doctor laid out the groundwork of a rich history of dramatic breakthroughs. Leading to the discovery humans have 46 chromosomes but the individual with down syndrome has 47. In 2000 International Team of scientists catalog the approximately 329 genes on the chromosome 21. And in fact the alzheimers gene is associated with the 21st chromosome. To dedicate my time to advocate for more research to improve outcomes to increase opportunities for those born with down syndrome. Today there is still so much more to discover. 50 of babies born with down syndrome are born with a congenital heart defect although not a case of suffering a heart attack have a higher likelihood to develop nile leukemia although they do not have solid tumor cancers and thanks to improved medical care 80 of adults live beyond 60 compared to 1960 on average only nine or ten years old. This is a genetic increase of Life Expectancy however almost every individual develops alzheimers or dementia. Although substantially increasing the budget to the work of this Committee Makes up less than 100 of 1 of the total budget the year he was born extremely dollars was provided for those with down syndrome but today it is 28 million. That is less than 100 of research per individual and by comparison 1. 5 million live with autism Cystic Fibrosis and an estimated 50,000 People Living living with the disease across the nation. With additional funding Innovative Research could take place like lowball down syndrome project that is ambitious crosssectional study thousands of individuals that this research will help us understand why they are protected from some medical condition while also for others but millions of others through the potential development of new diagnostic therapeutic tools therefore my question is why are we dedicating more research to continue to unlock the mysteries of the 21st chromosome . Studies that incorporate much needed collaboration a history of Research Related to down syndrome in the 21st chromosome is rich with breakthroughs lets go and unlock some more. [applause] thank you mr. Chairman. As i mentioned earlier we know you have busy schedules but so before i went to recognize the Ranking Member. We all get a sense that we are blessed to be a part of this institution and the strength of this sometimes it doesnt do what you wanted to do and looking at down syndrome or all the diseases that Health Agencies hi cdc we do have the ability and the power to push the envelope for Scientific Research and what we have to make a difference. Anybody have comments or questions . So you are excused thanks to each of you for being here. [applause] you have some very passionate and powerful advocates for your cause on both sides so give us a second. We will rearrange. Now please come and join us for your introductions. [inaudible conversations] [inaudible conversations] for the record there is a lot of hugging and kissing in the audience today. We dont see that very often left back. [laughter] i went to say welcome to our panelist you have been formally introduced i will forgo that other than to recognize my good friend from colorado who has constituents here having the opportunity to introduce them to the committee. I would like to begin to thank you in the Ranking Member for holding todays hearing to recognize efforts to study the link between down syndrome and alzheimers disease and search for a cure. I am honored to be here today to introduce the president and cofounder of the global down Syndrome Foundation in Denver Colorado and the executive director of the 224 down syndrome at the university of colorado. Serving as the executive director of the and John Foundation what is fundamental to the establishment of the institute at the Childrens Hospital of colorado most importantly the mother of two children one of them has down syndrome currently directing research that is investigating how the Gene Networks control cellular behavior with organisms and cancer biology additionally leading the human trisomy project this is the largest and comprehensive study of its kind. As you can see they have dedicated their lives and careers to study and advance down Syndrome Research especially the link with alzheimers disease and the connections to cancer to name a few. So with that Innovative Research that has identified so people with down syndrome have significantly increased risk to develop alzheimers and to study this connection. And better understand why certain people are more susceptible to the disease. This area of Research Provides a valuable opportunity how to protect constituents from developing alzheimers disease. Michelle and dr. Espinosa are at the forefront of this research. And to focus down Syndrome Research. Thanks for joining us this morning. And now you are recognized for your opening comments. So chairman and Ranking Member for your work of leadership with federal support with Biomedical Research to improve the quality of life for all you have done and to be great mentors and advocates in the congresswoman has been invaluable. And from my mother and father from italy and china. And they are here with their mom and sister from england here working hard every day. When i was pregnant with sophia i had the amnio the genetic counselor pressured me to terminate and we never looked back we inserted her a gift so i discovered the lifespan was 50th at time also no Clinical Research so shortly after i gave birth i met the director of National Institute of health and pointed out to me that it was the least of the genetic conditions that if you just do one thing establish the academic home and science needs to be there so we did that we organized the scientific summits first we were shocked not only to help the 300 or 400,000 also that therapeutic leverage that my father claimed so 100 with alzheimers 30 will have autoimmune disorders or also to get certain types of looking you but it is very rare to suffer a heart attack. Or fall to a cancer. And then to take them the din this issue and twos simulate funding and after being incorporated to help start that congressional caucus and of course Kathy Mcmorris rodgers. We reached across the aisle and today we are privileged to those who have supported language to highlight that disparity and in december 2010. Held by the National Institutes of health at the nic hd. And those conference findings were published 2001 as a catalyst called ds connect. And they can no longer say that there is a lack for the disparity. The revenue is approximately 8 million then to reach 20000 people from 28 states and seven countries have labs and over 140s scientist to keep up with the autoimmune disorder and cancer. Today we are ready to work with that platform that allows us to we categorize it as the autoimmune disorder so im sure we will talk more about these now we need our colleagues to think in new ways to think how this could be done. Then it would follow at least ten institutes and i have included them in the handout and people with down syndrome are ready to participate that doctor espinosa is doing from what we have anticipated in a short timeframe. We Hope Congress can help effectuate the approach to down Syndrome Research consistent with 21st century to engage in outside the box thinking with funding into the research. Despite advocacy there is negative for flat funding over the last couple of decades this is a significant disparity in my written testimony is tracking in those budgets. The leading cause down syndrome is one of the least funded genetic conditions from nih the annual funding for research on the 29 million to 14 despite Significant Growth in the budget during this time. 2001 through 2017 it increased at the same rate we will be a 744 million over those two decking so i will leave you with these final numbers there are between 30,400,000 People Living in the United States today it is now 101,691 the lifespan has doubled from the 80s double the relative population explosion in the United States. The number of people with down syndrome is getting larger and so is the need. They deserve to know there is Research Funding and medical care available to allow them to reach their true potential. Thank you for allowing me to testify. [applause] thank you for your testimony and advocacy. Doctor espinosa you are recognized. Thank you chairman and members for hosting this hearin hearing. I am here to share my understanding of one of the most spectacular developments in my research. Despite massive investment of Cancer Research it is a leading cause of death. Also the impact of the disease on society. And the cost is 250 billion per year. So clearly the nation and what if i tell you those do not apply . Not only to protect it but the largest human population. If you agree to deserve special attention. Those that have the 46 or 47 chromosomes and it is known as trisomy 21 it is the spectrum for the Major Medical condition so these observations with these observations but but for instance on the other hand on the other hand. [inaudible] and i could give you more examples. But how come din on down syndrome is one of the least understood by the biomedical community . Perhaps many thought that would disappear with the screening and early terminations but that is not the case. The Life Expectancy has more than doubled so the most conservative estimate of down syndrome but there could be as many as a couple hundred thousand. But people thought it was difficult to reverse but that is often not true. But that is due to those interventions with the proper medical care. And with that hormone management. But down Syndrome Research has been underfunded but this area has to be funded by a single institute on development. With the obvious potential to advance or understand alzheimers and cancer and leukemia, the time is right to think of and initiative to involve many institutes. We caught them working together. And also for aids research. It is an epidemic and with those centers. And dave that is caused over that work. So the strategy of investment. And to create an office for aids research there are fewer than 100,000 now there are more than 150,000. How long to the resources . I think the time is now. To stand ready for the benefit of humankind. Thank you for allowing me to testify. [applause] dr. I just want to say i am sure you are aware but one of the first people i talked to was peace sessions he said this is the guy you have to have make sure he comes and shares what he knows so we are glad you took the time to calm and you are recognized for your opening remarks. Thank you to the chairman in the Ranking Member and the esteemed members thank you for the opportunity to testify on this important. So to make the case this is the enormously positive time in history to have the power to understand the genes and mechanisms to cause problems that people with down syndrome has we have that same power to prevent they will teach us a lot absently know one that should ever have to suffer from alzheimers. We are all there. We are all susceptible and i will make the case and to make it possible not just with those with down syndrome before the rest of us to avoid it. What about a World Without alzheimers . One should encourage a very robust investment of research. Only because of the work we do for them to prevent the rest of us i have a number of other comments that that my colleagues told me do not study down syndrome. Please dont do that you will reuben your career because it is too complex to understand too difficult to study in treatments will come too late. Those statements are all false. To show increasingly in spite of the complex biology genes and mechanisms defined and one can confidently forecast the therapies of children and adults. So to go to this important question understanding the genetic basis serve not just those with down syndrome but the population at large . So those studies positively impact those who do not. I will say it is a scourge of madge and how those in their families view the threat of alzheimers and it is a nightmare. That is from what they cannot awake we discovered in mouse models of down syndrome and extra copy of one tree one one gene is necessary we can target that jean lower the level and i think in so doing to prevent alzheimers disease and down syndrome. That investment has to be carefully designed and i would argue with that consideration of the private sector as well as nih. Was a great friend and advocate and champion the global Syndrome Foundation the national down Syndrome Society the increasing role has been highly significant and not long ago it changed substantially with the establishment of the down syndrome working Group Recommended by congress in 2006 and we are very very grateful for congress. So with this recommendation came in new energy among those manifestations to track alzheimers with those with down syndrome Publicprivate Partnership and we are grateful to the down Syndrome Researcher and we look forward to working with. So to build upon the existing for to expand the scope of the work of unprecedented success and i think the committee for the chance to testify. [applause] next to Frank Stephenson outstanding advocate on behalf of down Syndrome Research and the families that deal with the issues. Mr. Chairman and members of the Committee Just so there is no confusion let me say i am not a Research Scientist left left. [laughter] however no one knows more about life with down syndrome than i do. Whatever you learn today, please remember this, i am a man with down syndrome and my life is worth living. [applause] sadly, across the world the notion is sold that that maybe we dont need research concerning down syndrome. They say that prenatal screens will identify down syndrome in the womb and those pregnancies should be terminated. It is hard for me to sit here to say those words. I completely understand for people that push this final solution say that people like me should not exist from the outdated idea of life with down syndrome. I have a great life and have lectured at universities. With the awardwinning film and tv show. And spoken to thousands of young people about the value of inclusion of making america great. I have been to the white house twice. I dont feel i should have to justify my existence. But to those who question the value of people with down syndrome i would make three points first, we are a medical gift to society, a blueprint for research. For cancer and alzheimers and immune system disorders. And second the unusual powerful source the harvard based study has discovered that people with down syndrome as well as their parents and siblings surely that is worth something that finally we are giving the world a chance to give them a chance at life. So we are hoping to defeat and to make the world a happier place. Is there really no place for us in the world . Is there really no place for us in the nih budget . On a deeply personal note i cannot tell you how much that means to me that my extra chromosome could be the answer to alzheimers. That that one day it could steal my memories and my very life from me. But it has already begun to steal my mom from me. Please think about all those people that you love the way i love my mom. Make this different if not for me and my mom but for you and the one that you love fund this research. Lets be america not iceland or denmark lets look at answers not final solutions. Lets make our goal to be alzheimer free not down syndrome free. Thank you. [applause] before we proceed to questions i will say your testimony you answered every question you laid out. Thank you very much for your powerful testimony and being here today. In your testimony referred to how dramatically the lifespan for people with down syndrome have increased in the last three decades. What is the reasons for that increase due to changing conditions . This is making it available to people with down syndrome that we were already making available. I will tell you a story. As a pediatric there is a little girl in here who is 12 years old could you investigate to figure out what is going on . I went to see her she had acute appendix. I felt terrific i could make a difference as a brandnew resident and i could make a diagnosis i called the surgeon and they said we are not sure. Eight hours went by they came again and said were not sure. They waited 72 hours hours until she perforated and nearly died. And what was her problem . She had down syndrome. Simply unwilling at that time to take seriously the right of a person had with great medical care. That incident has changed my life so i submit what we found for others it is yes we can treat infections but to bring them home to put them in school to treat medical issues the way they should have been treated all along. I agree with what they said that is possible and i am confident that could have the impact in the lives of people with down syndrome. One example of those that look at the particular aspect with the aspects of the new system but this could be modulated so now we are testing that possibility for those conditions. But to invest in more research of course that would be testing for safety and efficacy. So you have seen dramatic changes obviously what are the most important changes you have seen in terms of quality of life for people with down syndrome . I would like to see better healthcare because nih needs to fund this research because People Like Us who were born differently because like i said in my speech alzheimers those are the diseases to try to cure. I do echo the doctors that one of the great advances that was finalized in the early 90s. That is a dark past but that overwhelming majority of people with down syndrome were put in institutions and to say bring him home the simple rights activists but then they could actually be a live a longer life. But it can be for the mobile but the quality of life is one concern that if you suffer from bad Health Everything is secondary so getting great healthcare at all stages and New Territory with adults. This is the first generation of people who will outlive their parents. So when we close our eyes we want to make sure they are safe so healthy and quality of life that include but we are up there with the healthcare and researc research. Now my good friend from the subcommittee. Thank you for powerful testimony. Vintage but the subcommittee is following advancers of cancer immunotherapy. And it is very exciting about researchers who are looking the way harness the and to be immune against and to have the answers and with the advances. Son research tries to power of the system but it sounds like your research could help calm so their own body isnt but but for that Research Capability add to the effort . To also be at risk of leukemia but we have thoughts but then to come back biologically biologically. [inaudible] so can we learn from this . Yes. They have numbers that attack. When they are successful they can prevent that attack because there is a block so there is an obvious connection there. And with those protective aspects we may find out a way. The potential is there and terms of the research but what what you like have the Additional Resources . But i do think we need the approach and look at the concert connection my Research Team in denver is looking at this particular avenue. Thank you. We have our own experts also so i will give my good friend. The most powerful testimony i have heard in seven years. [applause] this is stuck in the institute of childhood diseases. We were taught that children with down syndrome did not live very long. They had anomalies were difficult to treat surgically. So that spawned the era to start developing things like prenatal testing and now it is a good idea that we could measure this to find this disease then as you suggest we can eliminate it through elective abortion. And i think that is something we always have to be careful about in the disability communities to try to solve that problem with the ongoing debates of endoflife care we just have to be thoughtful about. Because you follow on that hearing yesterday on nih funding. So in general global issues it needs to be done wisely and and i know why. The affected but for the hivaids spending 2500 in research perfected individual. If you estimate those living with downs is 250,000 which is the low estimate 111 per year per person. Twentyfive times times more per person is spent on hivaids and in 1981 when one when i graduated medical school and had a similar reputation. Why is that . I will suggest we dont think outside of the box. But they do have to be pushed how can you mrs. With these discoveries that you talk about whether immune knowledge he how can we miss this connection . This may be our purview to figure this out but do we do this by urging nih to look at this . Now you can add more funding and then you hear mark nih the latter one probably makes more sense to look at these new avenues. How do you think it is best done and how do we change the mind of nih . You have the Alzheimers Institute and that down Syndrome Research division how do we convince thinking scientist science is so powerful now that we want nih to Pay Attention with the advancement of research to identify gaps and understanding and priorities with discovery and therapeutic targets and to give the opportunity and then net result is more funding. Forget about your marks the result of nih who pays attention and is empowered to make that better would be fantastic. And those mechanisms make a difference so this chromosome is a wealth of information to change the game ask them to Pay Attention ask them to study it and change. I yield back. Thank you for your compelling testimony to the committee all you have accomplished is very impressive. With your life in those that is truly worth living so as highlighted today those living with down syndrome are a gift to society not because you have the extra chromosome but the extra heart many are too slow to recognize this and has not always been kind to people with down syndrome and for that reason and that they are skeptical of government sponsored research so as a result one of the issues that was brought to my attention to advocates in california that a down syndrome child is hesitant to signup for the patient registry because they are concerned about the government knowing too much of health and personal life. What would you tell young parents to encourage them to sign up and participate in the research . I would tell them there is no need to be afraid because because this is our life. It is our blood. We have the right to celebrate. Like i said in my speech we are men and women and i know that our lives are worth living. The connection between downs was first recognized in the 70s and alzheimers was discovered in those brains in the 80s it was almost 40 years that have passed and only now is this Research Getting the attention that it deserves with a baby boomer generation that is now into their 50s and 60s with no drugs that are approved to treat dementia and many primary care providers across the country are unaware or unable to make that diagnosis for alzheimers with those in down syndrome. Why has it taken so long for the medical community to embrace this connection . It is a good question. I want to say the medical community suffers in the same way the General Community suffers. They are just different somehow their needs are not as important then why bother . I dont want to mitigate those difficulties to the general population or say we have had such Great Success there are no therapies right now but that in those years i have been invested in this to have pushback even his fight of pot on pathology i was told by a director at enright mind nih it is not the same disease but it is. It looks different a little bit but is fundamentally the same so that really locked in to accept the realization is partly of our reluctance to consider carefully the livelihood and livelihood and wellbeing and it is a little more difficult to make a diagnosis summary that starts off different cognitively it is a sea change a few years ago that we should be thinking of treatments and one scientist said i never even heard that concept to treat down syndrome . Really . So partly it is recognition of the similarities and it is getting the word out. If they all knew that this risk was there and to be very positive. Britton has approved three inhibitors for dementia and down syndrome patients. So we had the fda improved that is the last major breakthrough it was 25 years ago those are drugs that are out there and available to treat sympathetically. But i think they are underutilized but it is also fair to say those side effects may be different than in the general population but the bottom line that you really need to hear despite those billions of dollars invested are not yet there were those disease modifying treatments so my argument is here is a chance for people with down syndrome to change that. You are generous to recognize that left left. [laughter] thank you chairman for convening this hearing and all of you on the panel for sharing your information and also your personal testimony but to highlight Biomedical Research and development it is truly fascinating to learn that that could translate with certain cancers just to name a few. I would like to recognize a couple people. [applause] they are constituents of mine from alabama we are excited to have you here as advocate and share your personal story and i had the opportunity to take them down with me so they can see firsthand the infectious personality loving life so thank you for sharing your day with me yesterday i am grateful you are all here. [applause] as a mother myself i am touched by your personal testimony every life is precious i support you. I am deeply troubled from the reports that say they can be down syndrome free by 2030i want you to know i am unapologetically prolife that there are protections that every bb should be treated like the miracle they were created to be so talk about Research Capabilities i think it is important we have assurances that they dont go down that slippery slope however indirect the practice may be this is important and that we touched on this but this is a very important thing. As executive director in the case of down syndrome with 140 scientist at could potentially lead to that to try to study that extra chromosome but that possibility for prenatal treatment and then to be cautious with those possibilities of modern research so you can have that assurance. Can you expand on the timeline . We have gone over advancements but what technology or resources do you look at for the next breakthrough . And what if any specific research or study from the Adult Population . The timeline and the technology is there we need a concerted effort to solve these problems and if you insist upon it will happen. So we know with respect to alzheimers we know what to do it is just a matter to give a specific example now under nih funding a very promising compound that down syndrome eliminates the effects of that extra chromosome. The molecule as well as against. We hope to file that on that molecule very soon i hope it will do the first studies with down syndrome could happen in two years but it will nod if not funded and right now we dont have funding for that. I want to say there is great promise to key up the argument to direct attention to this possibility and what we are hearing across the board i would say timing is up to you. I have gone over my time but thank you for this powerful hearing today i really appreciate you doing this. You are now recognized. What we carry it out correctly with a cap. What we share something thats a positive. A statistical follmann problem with this. As mobley, what do you see the possibility for isolating the gene that lives at alzheimers looks at . Lzheimers russian mar thank you. Isknow that thousand him complex. We know a lot of things may contribute but we know the gene usled a pp is necessary for for alabamas disease and down syndrome. The argument is if we turned on the expression, if we limited its toxic products, we can prevent house messages and down syndrome. We invest in the in a very serious way. By doing so, we basically find a prevent alzheimer disease, not just in down syndrome but in the whole population. I want to mention that therapeutically, want to target a pp, there are other genes that make down syndrome very likely in the population in general. These other genes are playing an important role. We dont want it to be only a pp but we want the program that robustly addresses those other genes as well. What we are facing is an epidemic that will affect all of us. We need to act now to avoid that epidemic. I wanted to quickly say thank you for your comment about rebuilding the pipeline of science and it is so important for down syndrome, despite what Translational Research on its own we need to do this for the quality of life of people in our community. The Translational Research is important but almost additional good things that can come. Some of the concerns i have is we are also debating a budget this week, were looking at potentially removing trillions of dollars out of federal spending. There was a proposal by this administration to cut nih overall i 22 . That was rejected by this community. Can you talk about what a 22 reduction will look like . Of ourn speak on behalf global and affiliates. It would be devastating. It would be devastating to a lot of people, millions of people. When you look at the down Syndrome Community, even further more compounded. The trajectoryon and look at the estimate of the budget for 2018, that tracks with that kind, we would love down to 20 million. We were at 29 in 2001. You can see what that had done for the lack of Health Outcomes for our children and adults. I am so appreciative to every single one of you and this is great because both sides of the aisle, everybody is getting together. Everyone says this is important for the health of all americans, we need to maintain or increase the budgets at nih and what we would hope is that there would be another increase that we could get some funding for people and downs with down syndrome and then it helps people with alzheimers and cancer and autoimmune disease, that would be fabulous, thank you very much. I say i am being very indulgent. I will gently admonish my friends on either side of the aisle players. Please refrain from asking the questions 20 seconds after. This is an exceptional hearing and we appreciate your testimony so much. We are going to be running a little late. Every to make sure that member had an opportunity to last at least one set of full questions with the indulgence of things that will go longer than we are scheduled for and we will offer the Ranking Member and myself any opportunity to make Closing Remarks. Go tohat caveat, i will the state of washington. I echo the comments of everything we have heard. This has been an amazing and eyeopening and enlightening. She had to sneak off. Watching her go through this fuss us, i have a few questions and thoughts, one thing i want to say to the families and the forcetes, we represent a that has been laboring and laboring just to get to this point and i want to say thank you. I had a challenging pregnancy, i was told there would be no hope for my kid. There was no treatment even if she had been born and breathing. We decided we do not want to make that decision, we wanted to give her the best chance we could. I was told by semidoctors that this wont work, this wont work, i was told all sorts of things that were not factual. It wasnt because i thought their hearts were in the wrong place but i think the static mindset around people who were different, it baffles me that we talk about diversity and pay lip service. It is totaled of service, it is on every tv commercial, it is on ads. We dont truly walk it out. It is such an example of that. If this is true diversity, they are truly differences. We as a society can decide we are going to look at these different is an truly celebrate them. Who treat them just like we would anybody else or i googled this isent and i think with regard to nih funding as a you have captured the attention of the panel, i think will do everything we can, i also think we all seem to know how to move this boat forward in society. That is what is has gone where it has. This is prenatal screenings. I think they are great. But they are not accurate. The people get the screens are not told the inaccuracy. They make lifechanging decisions based on it. What i would like to hear is how we help move this ball forward in society. How do we truly sound with this diversity . I think these are your respective spheres of influence, you face this and you have to battle this. You have to get through these hurdles. Thank you for doing that, you do whatever it takes. Go toe toho had to toe with colleagues, how do we change this in the community . That is where a real change occurs. Things, we can push things but the true change will come from the heart and minds in our communities and how we help effect that change. That is the panel. Thank you, that was an amazing statement. We talked people with down syndrome has been different able. That is the diversity. I think we as a community have an obligation to be here to advocate been busy but also advocate throughout everywhere we are in our hometown when we go 10 go travel. Just talking to a young vote ob gyn doctor whose son goes to school with another 10yearold with down syndrome has regularly different idea that a doctor that was practicing 30 years ago. I think by concluding her children, having them out in the community and the, getting them they are proving themselves as role models and changing society, the other thing is we support a lot of people who are in the performing arts. That makes a huge difference. I dont know if you heard of born this way, these tv shows. This starts to change and they start to see a person with down syndrome, not only as a human the kids could be unfortunately in this country. But as that barbecue cap from whatever state who was really good at cheerleading. Is the National Medicine is it a problem . Who does it affect . If they were able to come up with an authoritative study on this, it may about change the practice of medicine across the country, i could recommend that. Commentto make a brief enterprise,ientific in the this experience institute for down syndrome were in four years, we recruited 38 labs that were not doing research on that syndrome. Scientists will come to a fascinating,is scientists really do care for major discoveries. We created a Diverse Group of societies that were not thinking about the syndrome. Scientists will come to the deficit down Syndrome Research field. To dr. Espinosas point, this committee has done a lot in the areas of alzheimers and i to theto be talking director in charge and you begin to measure the difference by the Research Proposals you get in there of over 28 . The point is where very well made. Then i want to go to california for whatever question she cares to pose. And your to thank you Ranking Members for this very important and powerful hearing. I have a story i want to share. ,hank you for coming so far they traveled a long way. Thank you so much. So mucho thank you all for your very powerful testimony. Let me take a moment to share a personal story. Mrs. The firstsband were ever american physicians. They had a daughter with down syndrome and annie. She brought any to our house for piano lessons every single saturday. Mind you, i started playing the piano when i was three years old, i took adolescents every age 13. From three13, david of my life, she taught me so much as a child, i learned you would not believe what i learned from any. This is weight in the day, we had fun playing together, she made my life so much happier. I want you to know that because today i am thinking of any and i listened to your testimony and i am looking at you and i am so happy to see you here. That i also have a sister living with multiple sclerosis. , there willask you disassociation with multiple autoimmune diseases. If you found any evidence of the connection between down syndrome and multiple sclerosis, secondly, as it relates to the issue of diversity, we have young people who are transgender, we have huge gaps, with people of color in terms of research in terms of down barriers, i many would like to hear how this diversity plays out. This is other than terms of the research and what we are doing in terms of standards of care. I would say that i am one wants to increase the budget in all this is a lifesaving institute. This shape the world in terms of diseases and it is important. You have also brilliantly and we gottly told us that it, tackle, everything that we are a lifeaffirming country, thank you very much. Question withreat the audit autoimmune conditions, this is a good population without a new disorders. That being said, it would be a high risk of. We can tell that people with down syndrome it is not a. Hypothyroidism is very prevalent. This autoimmune skin conditions are a. Without going into the technicalities of a new conditions, that the to go to go flavor about autoimmune conditions based on the type of immune revelation that they have, the molecules that drive them are different than the that drive autoimmune conditions, we need more research to understand why they have some conditions but not all of this. We need more research in that area, what is going on with the African American community. Thater important fact is their increasing prevalence of these live births with more hispanics. We dont know why we assumed that would be because they believed in a large fraction of that. Just to terminate this, but we why the incident is preferential to that. This is transgender. We dont have any research of area we have to do the all population. I have no passion for this committed in the Ranking Member. This was a bipartisan basis of trying to make this priority last a couple of years. I think we will continue to do that, the real a longterm is to not go through a dozen years of flat funding, now we will do it under both administrations. Do issued toward not a particular goal but if its a good process by which we had to this on a regular basis, this should be like a national investment, it yields enormous but this to this country. I very proud of my Ranking Members. I can assure you that when we negotiate with our friends on the other side of the rotunda we have some partners. I know your commitment and directing members commitment but i want to make sure that we know and understand as we conduct days negotiations that while we increase the funding, we also look at where the gaps are. This is based on where many of these gaps are. Thank you. You will be proud to know that we are already extreme exchanging notes. Go ahead,go give her applause. I want to go to our last question with my friend mr. Mullen and michigan. This,o take note of number one, very unusual, members have a very busy schedule. But when this comes, he came at the very beginning, this was to stay for the entire meeting, we have other members who have asked actions, they very busy schedules, they are still here. You can take that as a compliment as to how compelling and how informative the verymony is, then the stay closely and have been very helpful, this has been exceptional. We will go to my friend from michigan to ask whatever questions they care to ask. Thank you for putting this together and i want to thank the panel for their testimony. Ill to think the families that ie here and for the patients, know has been a long hearing. I am at the end of the line here. One that will ask an original question. I especially want to thank mr. Stevens. I know a lot of people have mentioned how compelling your testimony is. I think i was one of the best speeches i have heard since ive been in congress. So thank you for that, it reminded me of some of our founding document about being in doubt by endowed by our creator with the right to life and you certainly spoke so eloquently to that. This see wouldnt, i want to thank you for your work. What struck me is you shared in your testimony about feeling somewhat pressured to terminate and the fact that you and your husband chose not to and the fact that i will think you would be here and your family would not be here this way. I think that is a very powerful thing, the impact of your entire family is having an educating all of us because i had no idea of the research that is being done and the Multiplier Effect of that research as well. I alsok you so much and want to follow up dr. Espinosa with the comments, he said a number of times about the need for a focused approach, a concerted effort, what strikes me is in some areas, it takes this unifying message, the occur, the cancer moonshot, it gave people a picture of what were trying to do here. You think about the original landing a man on the moon concept and that promoting of stem education. I just wonder, you really talked about the synergies here with as iresearch and mentioned, the Multiplier Effect, is there a way to communicate this so that we get the sense the urgency that you described today and the tremendous bang for the buck in terms of the Research Dollars so we can help advocate for this with nih and with our colleagues in congress . I would like to say that we have great allies in nih but we cannot set this up that makes it their fault because the something to fund, more research. Comedy, allocating funds specifically for research of the syndrome, theyre going to find a creative ways to fulfill this mandate of an enterprise. When we go to nih and all of us they also learn about some of these fascinating helpless,ns and the every cent is being budgeted for it. I thought about the office of research, what about the we may help initiative . Scienceze we were doing in an aggressive way. Our scientists looking at both sexes and theres premise . Ideas but ith for is going to be very difficult for them to be creative, without Additional Resources. It brings me to the point that i think you made earlier in 2006, there was a down syndrome working group established and i believe that was congressionally directed. Has there been anything since that and what would be the next step to build on that . That is true, in 2006, Congress Asking for an effort to look at down syndrome seriously and doesnt do research, i figured change the game. A lot has happened since that time. We found a champion and yvonne maddox. Person, theyular began to sketch the dance and we seen aandscape, lot of Development Since then, they were meetings in 2013 and 14 that focused specifically on , theimers decisions number of new initiatives is multiplying. Somethingwhen you say it may said different, i would ask you to say now, lets harvest the wonderful ideas that are possible right now, looking at those interim research to make about a better place for them and for the rest of us. But create a down syndrome initiative at the nih level that looks across the sorters to understand how the science that we are enough is there and that will we will explore further can really change the game. Not just for those with down syndrome for the rest of us. I think if you name it, you call it out, if you energize it with a great intention, free things will happen. Thank you very much. Thank you mr. Chairman. . This is a Ranking Member with whatever Closing Remarks she cares to give. Physics. This is extraordinary. This will really change peoples lives. So i am grateful for all of that. Respects, letmany me just as, i would very much like to get information back on what the consortium is doing and what the we need to get some idea of all day the institutes that are currently i know that there is a platform that they would like to work with and how that might be possible under the moveruction, how we can. This is exactly where were going. This is the medicine initiative, how that might be applied to the human try some project. That would be enormously helpful in terms of the deliberation. Emmys in so many instances, we are wrapping peter to pay paul. There has to be an understanding, i believe particularly in the health area which is why i proposed doing what we did in terms of how we look at fraud and abuse in that account, we do not attribute that to the budget. That is outside and so for the nih and the funding of nih which ive suggested for the last several years, that we do something that is very similar, we accelerate Biomedical Research which would allow us to go above the mechanism which were used for fraud and abuse, why not allow us to use that abovef mechanism to go because i say that because we do a lot of things at the federal level. Helicopters, we do it review roads, bridges, all kinds of things. But in my view, there is nothing more important that we do tend lives, as iles said to my colors, we are all blessed, we are in an institution that has the ability to push that edge of the envelope in order to be able to save lives. We ought to think about what it is we do do that connect those dots and look at where our priorities lie. Overarching goal that we have and utilization of this institution to do that seems to be a profound obligation and a moral responsibility. Do and doing what you you have the more responsibility, the social responsibility which are carrying out, i want us to be able to do that with the kind of resources we need to be able to effectively allow for discoveries that you speak about, thank you. [applause] i told my good friend before, she is endlessly creative about how you get around caps on delegations. But as always for a good cause. By thanking all of you. I want to thank the witnesses that were here, the advocates and obviously the young people i am not so young, it is a very powerful compression and a mr. Ericful to us, butler and her mice made an important point. Congress is not usually when things begin. Usually work their way toward congress. Youve all done and for no service by educating this committee and offering powerful personal testimony an expert really testimony that is profoundly moving. I had the great privilege to share this committee for all three years. I think any of us have been in one quite like this. My home state favorite philosopher is about it. Hes like to say we are all a current about different things. You really informed this committee in a way that some of us were not as well informed as we would like to be and that is extraordinary helpful. I want to thank the committee, i thought this was some of the best questions we had had and most intense in terms of feeling on both sides of the. I want to tell you that we are listening to what you have to say, we are very careful about deeply, there are times when there are gaps and you very powerfully pointed to and if we had gap our collective way, we may not agree with the amount but the subcommittee would the graduate to add money over at nih as we have in the last two years. I know my Ranking Member wants to again and i know my colleagues in the senate want to as well. This is something we will certainly take into consideration as we do that. I want to thank each of you for think taking the time. I know it is a disruption to your day to travel this way. Johnson,also perp, mr. You are clearly the star of the show. Wonder you are an advocate extraordinaire. I thought i was one of the most moving testimonies ive ever heard. What youve highlighted farewell, i want to personally , they you for coming, this is how you end up talking about specializing in the i submitement, academic and resources to attract you. You guys really made decisions. How take a tragedy and turn it peoplechild for all to take personal expenses and make it meaningful for the country or particular community that has been overlooked. You should be destroyed nearly proud of what youre done and how you got with it, it is an amazing effort. The hearingwill and but again, i want to thank each and everyone of you for coming. [applause] monday night on the communicators, the National Association of broadcasters ceo gordon smith on the future of television. Future in my view is very bright for broadcasting. 3. 0ecause of this new iteiver standard because is investing dramatically into the efficiency of our spectrum. Phone so if up your there is an emergency coming into your neighborhood, you can be alerted to a broadcast signal. , tremendous said pictures it will provide, the sound capabilities it will give and augment and the internet the them broadcast signal is a oneway signal, but because they will be in the future, internet interoperable, it a viewer wants them to come back to a they will enable visually of broadcasters to provide political advertising for members of congress to the people in the distress they represent. Watch the indicators on cspan two. The communicators on cspan two. Day, queenchristmas elizabeth delivers her annual christmas message and that 8 00 in eastern, cornell west and the big middle east peace. What kind of moral character, what kind of human values are we willing to promote, are we going to forget the very ugly reality in gaza and west bank . If you look at the on today, theres the one country in the world that is 90 of you and resolutions and that is israel. On cspan2, on 6 30 p. M. Eastern, jerry yellen records repulses Bombing Missions over japan with his the last fighter pilot. The squadron took off to the front. 700 plans were there went down. 25 guys were killed. This is my airplane and it is hard for me to tidy the truth of how i felt. We were there to protect our freedom, they were there to fly. They did that. It was after the war that i suffered. Onon American History tv cspan3, on a clock p. M. Eastern, Linmanuel Miranda except the u. S. Capitol societies. 17 freedom award. When youre a theater cared, you make friends from different grades and social groups, you work hard to create Something Better than the sum of your parts and just for the sake of making something great, you learn to trust your passion and let it lead the way. Watch monday, Christmas Day on the cspan network. In florida for the christmas holiday, President Trump out a Video Conference earlier today with members of the u. S. Military and his maralago resort. Heres a look. They are fighting well and we are winning. I wanted to wish everybody a very merry christmas. We say christmas again very proudly. A very merry christmas