[Congressional Record Volume 165, Number 143 (Monday, September 9, 2019)]
[Extensions of Remarks]
[Pages E1107-E1108]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]




 INTRODUCTION OF THE RARE DISEASE ADVANCEMENT, RESEARCH, AND EDUCATION 
                         (RARE) ACT, H.R. 4228

                                 ______
                                 

                           HON. ANDRE CARSON

                               of indiana

                    in the house of representatives

                       Monday, September 9, 2019

  Mr. CARSON of Indiana. Madam Speaker, I am pleased to reintroduce the 
Rare disease Advancement, Research, and Education (RARE) Act. This 
important, bipartisan legislation will address many of the issues 
facing rare disease patients and families. I am pleased that this 
legislation has been endorsed by 139 patient groups and cosponsored by 
a number of my colleagues from both sides of the aisle. But most 
importantly, this legislation will make a meaningful difference in the 
lives of those struggling with rare diseases by using increased 
research to help provide more accurate diagnoses and increased 
treatment options.
  During my time in Congress, I have been honored to represent and meet 
with many brave Hoosier families that are struggling with rare 
diseases. I have been moved by their courage. Their strength in the 
midst of trying conditions is not only inspiring, but also instructive. 
They have educated me and my colleagues about the necessity of 
increased research and rare disease surveillance in order to provide 
more treatment options and better diagnoses.
  One family in Indiana, the Meggenhofens, exemplify the challenges of 
accurately diagnosing and treating rare diseases. Jocelyn Meggenhofen 
was born with Leukodystrophy, an extremely rare brain disease that 
causes delays in cognitive development and poor motor skills. After 
years of seizures, misdiagnoses of a brain tumor, and denials from 
residential facilities, Jocelyn was finally able to receive the correct 
treatment. Her struggles were not over: the Meggenhofen's health 
insurance would not cover room and board for an inpatient stay at a 
facility in New Jersey and her school in Hancock County would not 
approve Jocelyn's education at the facility. However, despite being 
told by doctors that she wouldn't live past her fifth birthday, 
Jocelyn, now 15, has received treatment at Riley Children's Health 
hospital in Indianapolis and continues to fight her disease.
  In another example, Derrian Baker in Merrillville, Indiana suffered 
from Prader Willi Syndrome, a very rare genetic disorder. During his 
short life, Derrian and his family struggled to receive the necessary 
treatment after being denied an inpatient stay for treatment at the 
Children's Institute in Pittsburgh. Derrian passed away at the age of 
26, underscoring the severity and high morbidity of many rare diseases 
if they cannot be treated.
  Unfortunately, the plights of people like Jocelyn and Derrian are not 
uncommon: Nearly one in ten Americans live with one or more of the 
roughly 7,000 known rare diseases. These largely inherited diseases--
defined as affecting 200,000 or fewer people--often lack substantive 
research investments and treatment options. In particular, African-
Americans are especially vulnerable to certain rare diseases, including 
Sickle cell disease and beta-thalassemia. Specifically, the blood 
disorder Sickle cell disease affects 73 out of every 1,000 African 
American babies versus only three out of every 1,000 Caucasian babies.
  While rare diseases cross the medical spectrum, individuals with rare 
diseases face some common challenges. Largely due to their limited 
patient population size, these individuals may have difficulty 
obtaining an accurate diagnosis, finding physicians or treatment 
centers with expertise in their disease, and ultimately finding 
appropriate treatment options and cures. Moreover, it can be difficult 
to find patients for treatment studies, underscored by the example of 
Maria Isabel Bueso, who came to the U.S. from Guatemala in order to 
participate in a clinical trial. Thanks to her participation, a 
treatment for her rare disease, Mucopolysaccharidosis VI, was approved. 
Maria now faces the possibility of deportation because the current 
administration eliminated a program that allows immigrants like Maria 
to stay in the country while receiving lifesaving medical treatment. 
Frighteningly, roughly 90 percent of rare diseases still lack a 
treatment

[[Page E1108]]

approved by the U.S. Food and Drug Administration (FDA). While over 450 
drugs have been approved for the treatment of rare diseases, millions 
of Americans who are suffering from a rare disease have no approved 
treatment options.
  Past Congressional action has helped support research at NIH and CDC, 
supported in part by the bipartisan appropriations letter I lead each 
year--signed by over 220 House members--in support of increased NIH 
funding. However, much more work needs to be done to help these 
agencies improve rare disease awareness, education, research, 
surveillance, diagnosis, and treatment. This is why the RARE Act is so 
important. It will expand the ability of the National Institutes of 
Health (NIH) and Centers for Disease Control and Prevention (CDC) to 
study rare diseases by improving treatment, research, and diagnostics 
of rare diseases through new and existing programs. I am proud to 
introduce the RARE Act to help address the many unique challenges 
facing the rare disease patient community, including patients like 
Jocelyn and Derrian.
  The RARE Act would provide an important step forward by addressing 
some of the common challenges faced by rare disease patients and 
improving rare disease treatment, research, and diagnostics. The RARE 
Act would expand an existing and successful program at NIH: the Rare 
Diseases Clinical Research Network (RDCRN). The RDCRN's 21 research 
``centers of excellence'' support the research and clinical trials of 
over 190 rare diseases and increase the availability of rare disease 
information to doctors and patients. Expanding these centers, which are 
similar to the center that helped find an accurate diagnosis for 
Jocelyn, would help many more struggling patients to receive more 
accurate early diagnoses and treatments.
  The RARE Act would also fill critical gaps in our healthcare system 
by improving coordination, surveillance, and awareness of rare 
diseases. For example, the RARE Act would require the Centers for 
Disease Control (CDC) to create a National Rare Disease or Condition 
Surveillance System. This formalized infrastructure would track rare 
disease data and help researchers to understand commonalities between 
diseases and possible treatments, ultimately helping patients like 
Derrian to find better treatments. The RARE Act would also require the 
Agency for Healthcare Research and Quality (AHRQ) to expand and 
intensify its work to ensure that health professionals are aware of 
rare disease diagnoses and treatments, leading to fewer misdiagnoses 
like Jocelyn experienced. The RARE Act would also mandate an updated 
report on rare disease efforts from the National Academies of Sciences, 
Engineering, and Medicine to ensure that Congress has the best tools 
possible to address these issues.
  Madam Speaker, I hope my colleagues will join me in supporting this 
bill to help combat rare diseases. The stories of Jocelyn and Derrian 
remind us that we need further research and disease surveillance to 
improve rare disease patients' lives in Indiana and across the nation. 
I urge the House to support this bill.

                          ____________________