For the month of October, PCHA recognized the importance of Research. All different kinds of research are vital to finding a treatment and an eventual cure for CHD and we thank all the clinicians, scientists, and patient volunteers for their important contributions to CHD research. The fight to conquer CHD is strengthened by the involvement of all of those who share our mission. It takes a community coming together around education, research and awareness to make an impact. Volunteer, join our advocacy network today, and connect with us on Facebook! In case you missed a post, below is the full Research Blog series:
As we continue with our theme of research for the month of October, PCHA welcomes back NIH medical officer and pediatric cardiologist Dr. Kristin Burns. Dr. Burns answers some frequently asked questions about clinical research and provides information about ongoing clinical research studies.
Have you ever noticed flyers posted in the waiting room of your child’s healthcare provider’s office advertising clinical research studies? Has your child’s healthcare provider ever invited you to learn more about a research study or asked if you want your child to participate in clinical research? If so, have you wondered, “What is clinical research and why should my child participate?”
What is clinical research?
- Clinical research is a series of tests or observations that help scientists learn about how safe or effective medications, devices, and treatments are in humans or how diseases progress over time.
- A clinical trial is a specific type of clinical research study that compares treatments against each other. Participants are often assigned randomly (like a coin flip) to one treatment or another and their outcomes are compared.
- Clinical research is different than the medical care your child receives from their healthcare provider. Research tries to understand whether a treatment may help a group of people with a certain condition in the future. Medical care focuses on the individual needs of a single person at the present time.
Why is it important for children to be in clinical research studies?
- Many medicines used in children have not been tested in children to see if they are safe or if they work well. Because children are not just small adults and are still growing and developing, their bodies may work differently than adults, their health conditions may be different from adults, and medicines that work for adults may not work well or may be unsafe for children.
- Therefore, it is important to do research studies involving children to test treatments and learn about pediatric diseases.
How does it benefit my child to be in a clinical research study?
- By being in a research study, it is possible that your child might get access to newer drugs or treatments. Whether your child is assigned to get the experimental treatment, an existing treatment or a placebo (a sugar pill), your child is likely to have closer monitoring during a study, and you may learn more about your child’s condition by being in a research study.
- It is possible that your child’s condition may improve by taking an experimental treatment. But it is also possible that an experimental treatment might not work better than existing treatments.
- Your child’s participation may help other children with the same condition in the future. It may lead to the development of new treatments that work better, or it may prevent children from receiving a treatment that was proven in a research study to be unsafe or to not work well.
Is it safe for my child to participate in clinical research?
- In addition to the doctors and nurses who will be monitoring the children in the research study, independent review boards, ethics committees, and safety monitoring boards have reviewed and approved the design of each study and will be monitoring its progress for safety.
It is your choice whether you want your child to participate in clinical research. Whether or not you decide to participate, your child’s medical care will not be affected.
What clinical research studies are going on now for children with congenital heart disease?
- The Pediatric Heart Network, funded by the National Heart, Lung, and Blood Institute at the National Institutes of Health (NIH), performs clinical research studies for individuals with congenital heart disease.
- The Pediatric Heart Network is currently enrolling participants in the FUEL Trial (Fontan Exercise Longitudinal Assessment). Teens who have had a Fontan operation and who are 12 to 18 years of age will be randomly assigned to 6 months of treatment with either a medication called Udenafil or placebo pills (that don’t contain any medication). The study will test whether treatment with Udenafil improves the ability to exercise. Previous studies have shown that, in people who have had a Fontan operation, decreasing ability to exercise over time is associated with worsening heart failure and increasing hospitalizations. This study hopes to identify a possible preventative treatment that could improve Fontan function over time and delay the development of heart failure. More information about the FUEL Trial can be found here.
- Other clinical research studies may also be going on in your area or for your child’s condition. Ask your healthcare provider about other research studies that are available to your child.
Where can I learn more about clinical research?
- The Children and Clinical Studies website is a helpful place to learn more about participating in clinical research, and to hear from families who have decided to participate and those who chose not to participate.
- The Children and Clinical Studies website also includes a fantasy video game adventure, The Paper Kingdom, that helps children learn more about clinical research.
- The Pediatric Heart Network website includes information for parents and teens and describes some of its studies in congenital heart disease, including the FUEL trial.
- ClinicalTrials.gov is a searchable database that includes information on thousands of clinical research studies around the world.
Kristin M. Burns, M.D. is a medical officer in the Heart Development and Structural Diseases Branch in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH) and a pediatric cardiologist at the Children’s National Medical Center. Dr. Burns received her B.A. in Biochemistry and German from Wellesley College and her M.D. from the University of Massachusetts Medical School.
As we continue with our focus on genetics and genomics research, PCHA welcomes NIH medical officer Dr. Jonathan Kaltman. Dr. Kaltman provides an overview of a recent study that uses genomic data to establish a genetic link between congenital heart disease (CHD) and neurodevelopmental disorders. This study provides an important example of how genetics and genomics research can help us understand the genetic causes of CHD and other congenital anomalies.
The journal Science recently published a study performed by the Pediatric Cardiac Genomics Consortium evaluating the genetic cause of congenital heart disease (CHD). The investigators also tried to determine if genetics can explain why many children with CHD also have other medical conditions, including neurodevelopmental disorders and other congenital problems. You can find the complete study here.
About this Study:
- The purpose of this study was to determine the genetic cause of severe CHD and its related medical problems.
- Genetic sequencing was performed on 1,213 children with CHD and their parents and compared to families who did not have CHD.
- Participants with CHD were also evaluated for neurodevelopmental disorders, such as learning disabilities or attention deficit/hyperactivity disorder, and other congenital problems, such as cleft lip.
- Children with severe CHD have a high number of spontaneous mutations.
- The finding of a spontaneous mutation was especially strong in patients with CHD and another structural birth defect and/or neurodevelopmental disorders suggesting that these medical conditions happening together is likely due to a genetic cause.
- Spontaneous mutations occurred in 20% of subjects with CHD, neurodevelopmental disorders, and another birth defect. They occurred in 5-10% of subjects with CHD and either a neurodevelopmental disorder or another birth defect. They occurred in only 2% of subjects with only CHD.
- Many of the genes with mutations work in early development in both the heart and the brain, suggesting that a single mutation may cause both CHD and neurodevelopmental disorders.
- Defects in certain genes result in a very high risk for developing neurodevelopment disorders associated with the CHD.
What this Means:
- Neurodevelopmental disorders in children with CHD have often been thought to be caused by abnormal circulation and/or stresses associated with surgery and post-operative care. The findings from this study suggest that underlying genetics may also play an important role.
- If these findings are repeated in other experiments, clinical genetic tests might be developed that can identify patients at high risk for developing neurodevelopmental abnormalities, enabling clinicians to target these patients for early therapy with the ultimate goal of improving their outcome.
These findings are helping to identify new molecular pathways that are important to heart and brain development improving basic knowledge of how the human body develops and providing understanding of the causes of various birth defects.
Jonathan R. Kaltman, M.D., is Chief of the Heart Development and Structural Diseases Branch in the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH). Dr. Kaltman provides leadership for the Pediatric Cardiac Genomics Consortium and also helps oversee the Pediatric Heart Network. Prior to joining the NHLBI, Dr. Kaltman served as an assistant professor at the Children’s Hospital of Philadelphia at the University of Pennsylvania School of Medicine. He then joined the Children’s National Medical Center in D.C. as an assistant clinical professor where he continues to hold a part-time position. Dr. Kaltman received his B.S. in Molecular Biophysics and Biochemistry from Yale University and his M.D. from Emory University School of Medicine.
This week, PCHA focuses on genetics and genomics research and discusses why these studies are important for understanding the underlying genetic causes of CHD. At some point during a hospital visit, you may have been asked to enroll your child in a genetic study. To help parents and caregivers make a more informed decision about whether or not to participate in a genetic study, PCHA provides an overview of some of the genetic concepts and terms that you will read and hear about when discussing this type of study with a coordinator.
Genetics and Genomics Research – Why It Matters
As parents of a child with congenital heart disease (CHD), we are often left wondering why our child was born with this condition. Even though heart defects are the most common birth defect, shockingly little is actually known about what causes CHD. Although many hospitals and laboratories around the world are tackling the problem of CHD, it turns out that one of the most valuable resources in the fight against CHD is our DNA. DNA is the genetic material that contains all of the instructions for how we develop and grow and what we eventually become. The entirety of one’s DNA is called a genome and everyone’s genome is unique. In most cases, the genome holds important clues about the cause of your child’s CHD.
Why is our DNA so important for CHD research?
Although many factors not related to genetics can increase the risk of heart defects, it is likely that genetics plays a major role in most cases of CHD. The instructions for building a heart are contained in our genes. A gene is a segment of DNA that serves as a blueprint for building a specific protein. Every protein has a specific function and the proper development and function of the heart relies on thousands of different proteins. Therefore, a harmful mutation in a gene that is essential for heart development could be a potential cause of CHD.
How did my child get a mutation?
A mutation is any kind of change in DNA and mutations can be inherited or occur spontaneously in a developing unborn child. In fact, new mutations, which are called de novo mutations, happen in every generation. Although most of these mutations are harmless, some mutations can cause disease. It is the identification of these mutations that will be critically important for understanding why certain children are born with CHD.
How are these mutations identified?
There are several studies that have begun to look at the impact of genetics on CHD. One of the largest is the Congenital Heart Disease Genetic Network Study (CHD GENES). In this NIH-funded study, a small sample of blood is collected from you and your child in order to isolate DNA and determine its sequence. DNA is made up of four building blocks called nucleotides and sequencing is the process by which the exact order of nucleotides that make up the DNA is determined. In whole genome sequencing, the sequence of one’s entire DNA is determined. In whole exome sequencing, only the segments of DNA that code for proteins are sequenced. Sequencing allows for the detection of mutations that could be potentially harmful for your child.
Why is it important that all of us participate in genomics research?
Although CHD is the most common birth defect, it is important to remember that the most complex types of CHD are rare. A mutation in any one of hundreds of genes could potentially cause CHD. Furthermore, two children with the same heart defect could have mutations in different genes. So even if a mutation is found in your child, it is not easy to assign that mutation as the cause of disease. However, if a gene that is mutated in your child is also mutated in many other children with CHD, then it becomes more and more likely that the mutation is responsible for the disease. As the number of people in the study increases, it becomes easier to identify the genes involved in CHD. This type of study is called a genome-wide association study (GWAS) and these studies become more powerful when more people participate.
Why is it important that both parents participate in genomics research?
In many cases, children with a heart defect are born to parents without a family history of CHD. Oftentimes, a de novo mutation is responsible for the disease. This is one reason why many research studies encourage the participation of both parents. By comparing the DNA sequence of the child with the DNA sequences of both parents, it becomes easier to spot new mutations in the child since neither parent will carry the mutation.
What happens if a mutation is identified in my child?
It is important to understand that the identification of a mutation will not lead to an immediate cure. However, it could have many potential implications for the long-term health and development of your child as well as future generations of children born with CHD. For example, many genes that are important for heart development are also important for the development of other organs in the body like the brain and kidney. This might explain why so many children with CHD experience neurodevelopmental delay as well as other non-heart-related health issues. Knowing which gene is affected in your child can help diagnose other problems and allow for earlier intervention. Furthermore, many children with CHD have progressive conditions and understanding the genetics of their disease will be absolutely critical for the discovery of drugs that can stem the tide of the disease. Finally, parents who receive an earlier CHD diagnosis will be well informed and more prepared to care for their child. It is important to remember that science and medicine are advancing at a rapid pace. There is hope for children with CHD and understanding the genes that are important for heart development and function will be the key to conquering this disease.
How can we participate?
Participation in any research study is entirely voluntary. Privacy issues are usually the main concern of parents, but, in most cases, many steps are taken to ensure the privacy of the parents and your child. This and any other issue can be discussed with the clinical coordinator before you enroll in a study. To participate specifically in the CHD GENES study mentioned above, a list of participating centers can be found here.
Michael Kim is a scientist and a father of two little girls. His oldest daughter Sydney was born with total anomalous pulmonary venous return (TAPVR) in 2011. He received his B.A. in Biochemistry from the University of California, Berkeley and his Ph.D. in Cell and Structural Biology from the University of Illinois, Urbana-Champaign. He and his family currently live in Miami, FL.
Continuing our theme of Research, PCHA welcomes back pediatric psychologist Dr. Erica Sood. Dr. Sood provides an overview of research studies that highlight the importance of monitoring children and adolescents with CHD for psychosocial issues and that further reveal how parent/caregiver stress can affect the emotional and behavioral functioning of a child with CHD.
Psychosocial functioning of adolescents with d-transposition of the great arteries
By Erica Sood, PhD, Pediatric Psychologist
The Journal of Pediatrics published a study examining rates of emotional and behavioral disorders and overall psychosocial functioning among adolescents with d-transposition of the great arteries (d-TGA).* Findings highlight the importance of monitoring and attending to the psychosocial health of children and adolescents with CHD in addition to their physical health. You can find the complete study here.
About this Study:
- This study compared adolescents with d-TGA to healthy adolescents with respect to rates of emotional and behavioral disorders and overall psychosocial functioning.
- The d-TGA group consisted of 139 adolescents who were enrolled in the Boston Circulatory Arrest Study during infancy and have since been assessed at 1, 4, 8, and 16 years of age. Learn more about the Boston Circulatory Arrest Study here. The comparison group consisted of 61 healthy adolescents.
- Adolescents and their parents completed psychiatric interviews and questionnaires evaluating diagnoses and symptoms of mood, anxiety and disruptive behavior disorders. Parents also reported on symptoms of post-traumatic stress related to raising a child with d-TGA. Stress within the parent-child relationship and cognitive functioning were previously assessed at age 8.
- Adolescents with d-TGA had higher rates of attention-deficit/hyperactivity disorder (ADHD) compared with healthy adolescents (16% versus 3%).
- Rates of mood and anxiety disorders were similar between the two groups based on psychiatric interview. Adolescents with d-TGA reported more symptoms of depression and anxiety on questionnaires, although these were still considered within the “normal” range for their age.
- Adolescents with impaired cognitive functioning had worse psychosocial functioning.
- Parental stress, but not severity of illness, was associated with adolescent psychosocial functioning.
- Parents who reported more stress within the parent-child relationship and more post-traumatic stress symptoms had adolescents with worse psychosocial functioning.
- Severity of illness (for example, length of hospitalization, subsequent operations, seizures in the hospital) was not associated with adolescent psychosocial functioning
What this Means:
- The psychosocial health of children and adolescents with CHD should be monitored in addition to physical health.
- Children and adolescents with CHD are at higher risk for ADHD, as demonstrated in this study as well as many prior studies.1,2
- Although adolescents with d-TGA did not exhibit higher rates of mood or anxiety disorders, they did report more symptoms of depression and anxiety. These symptoms could potentially increase their risk for a mood or anxiety disorder as they face new challenges during the transition to adulthood.
- Periodic surveillance, screening and evaluation of emotional and behavioral functioning should be standard of care for children and adolescents with CHD,3 as recommended by the American Heart Association and the American Academy of Pediatrics.
- It is important for parents of children with CHD to care for themselves and manage their own stress.
- This study and several prior CHD studies 4,5 have found a relationship between parental stress and child emotional and behavioral functioning.
- Raising a child with CHD comes with more than its fair share of stress. While it is certainly not easy to prioritize self-care, taking care of yourself is an important aspect of caring for your child and family.
If you have concerns about your child’s emotional or behavioral functioning, we encourage you to discuss these concerns with your child’s healthcare providers.
* DeMaso DR, Labella M, Taylor GA, Forbes PW, Stopp C, Bellinger DC, Rivkin MJ, Wypij D, Newburger JW. Psychiatric disorders and function in adolescents with d-transposition of the great arteries. J Pediatr. 2014;165:760-766.
- Shillingford AJ, Glanzman MM, Ittenbach RF, Clancy RR, Gaynor JW, Wernovsky G. Inattention, hyperactivity, and school performance in a population of school-age children with complex congenital heart disease. Pediatrics. 2008;121:e759–e767.
- Hövels-Gürich HH, Konrad K, Skorzenski D, Herpertz-Dahlmann B, Messmer BJ, Seghaye MC. Attentional dysfunction in children after corrective cardiac surgery in infancy. Ann Thorac Surg. 2007;83:1425–1430.
- Marino BS, Lipkin PH, Newburger JW, et al. Neurodevelopmental outcomes in children with congenital heart disease: Evaluation and management: A scientific statement from the American Heart Association. Circulation. 2012;126:1143-1172.
- Visconti KJ, Saudino KJ, Rappaport LA, Newburger JW, Bellinger DC. Influence of parental stress and social support on the behavioral adjustment of children with transposition of the great arteries. J Dev Behav Pediatr. 2002;23:314-321.
- Goldberg S, Janus M, Washington J, Simmons RJ, MacLusky I, Fowler RS. Prediction of preschool behavioral problems in healthy and pediatric samples. J Dev Behav Pediatr. 1997;18:304-313.
Dr. Sood is a pediatric psychologist in the Nemours Cardiac Center and Assistant Professor of Pediatrics at Sidney Kimmel Medical College at Thomas Jefferson University. She received her PhD in Clinical Psychology from Temple University and completed residency and fellowship in Pediatric Psychology at Nemours/duPont Hospital for Children. She directs the Nemours Cardiac Learning and Early Development (LEAD) Program and provides psychological consultation and therapy for children with congenital heart disease and their families. Dr. Sood also conducts research on neurodevelopmental outcomes, developmental care and family psychosocial interventions for this patient population. She serves on the editorial board for Clinical Practice in Pediatric Psychology and is an active member of the Society of Pediatric Psychology’s Cardiology Special Interest Group and the Cardiac Neurodevelopmental Outcomes Collaborative. Dr. Sood provides supervision and mentorship to psychology fellows working within the Nemours Cardiac Center to promote psychologist involvement in the field of pediatric cardiology.
For the month of October, PCHA will be focusing on the theme of Research. In the first post of our series, Dr. Matt Oster provides an overview of a recent study that estimates the prevalence of CHD across all age groups in the United States and highlights the importance of surveillance in improving outcomes for CHD across the lifespan.
Congenital Heart Defects in the United States: Estimating the Magnitude of the Affected Population in 2010
By Matt Oster, MD, MPH
Congenital heart disease (CHD) is the most common and critical birth defect. Medical research has led to groundbreaking advances in identification and treatment of CHD. While we have learned enough to improve the survival rate to where most babies born with CHD will live to adulthood, there is still so much we don’t know.
Despite how common, critical, and costly CHD is, the understanding of the public health impact of CHD is surprisingly limited. In fact, we cannot accurately answer the basic question of “How many people with CHD are currently living in the U.S.?”
The American Heart Association, in their journal Circulation, recently published a study, Congenital Heart Defects in the United States: Estimating the Magnitude of the Affected Population in 2010, that mapped Canadian CHD statistics onto the U.S. population. The study’s main findings as outlined in the Centers for Disease Control and Prevention (CDC) Key Findings summary included:
- Approximately 2.4 million people were estimated to be living with a CHD in the United States in 2010. About 1 million of those were children under the age of 18 years and about 1.4 million were adults age 18 years and older.
- About 12% (289,000 people) were estimated to have a severe CHD.
- There were slightly more women (1,260,000) than men (1,163,000) living with a CHD in the United States.
However, the authors of the study also draw these additional conclusions –
Our estimates highlight the need for two important efforts:
- Planning for health services delivery to meet the needs of the growing population of adults with CHD.
- The development of surveillance data across the lifespan to provide empirical estimates of the prevalence of CHD across all age groups in the US.
First authorized in 2010 by the Congenital Heart Futures Act, the Centers for Disease Control and Prevention and the National Institutes of Health have begun to take steps to address this burden, needing additional resources to continue and expand their efforts. Continued federal investment is necessary to provide rigorous epidemiological and longitudinal public health surveillance and public health research on infants, children, adolescents and adults to better understand CHD at every age, improve outcomes and reduce costs.
Efforts by patient advocacy groups such as the Pediatric Congenital Heart Association are essential to ensure the further development of systems to provide surveillance data to better understand CHD across the lifespan.
Dr. Oster is a pediatric cardiologist at Sibley Heart Center Cardiology at Children’s Healthcare of Atlanta. He holds Emory appointments of Assistant Professor of Pediatrics in the School of Medicine and Assistant Professor of Epidemiology in the School of Public Health as well as an appointment as a medical officer at the CDC’s National Center on Birth Defects and Developmental Disabilities. He earned his MD at the University of Pennsylvania School of Medicine and his MPH in epidemiology at Emory University Rollins School of Public Health. He completed residency training in pediatrics at the University of California-San Francisco and fellowship training in pediatric cardiology at Emory University. When not seeing patients, he serves as director of the Children’s Cardiac Outcomes Research Program at Sibley Heart Center. His primary research interests include the epidemiology of CHD and long-term outcomes for patients with CHD.
Senator Durbin’s Amendment to support research not red tape passed yesterday afternoon with a bi-partisan win of 66-32. A huge thank you to all of you who have called, tweeted and shared your stories. National advocacy efforts were mentioned multiple times during the debates, including a letter that PCHA joined with 142 other advocacy organizations. During the debate process, excellent points were raised about research funding. We are looking forward to understanding more about how national research for the most common birth defect will continue to be supported!
Please consider thanking your member of Congress who supported the amendment. Here is how the played out:
|YEAs —66||NAYs —32||Not Voting – 2|
|Alexander (R-TN)||Barrasso (R-WY)||Sanders (I-VT)|
|Ayotte (R-NH)||Coats (R-IN)||Warner (D-VA)|
|Baldwin (D-WI)||Corker (R-TN)|
|Bennet (D-CO)||Cornyn (R-TX)|
|Blumenthal (D-CT)||Cotton (R-AR)|
|Blunt (R-MO)||Crapo (R-ID)|
|Booker (D-NJ)||Cruz (R-TX)|
|Boozman (R-AR)||Daines (R-MT)|
|Boxer (D-CA)||Enzi (R-WY)|
|Brown (D-OH)||Ernst (R-IA)|
|Burr (R-NC)||Fischer (R-NE)|
|Cantwell (D-WA)||Flake (R-AZ)|
|Capito (R-WV)||Graham (R-SC)|
|Cardin (D-MD)||Hatch (R-UT)|
|Carper (D-DE)||Inhofe (R-OK)|
|Casey (D-PA)||Lankford (R-OK)|
|Cassidy (R-LA)||Lee (R-UT)|
|Cochran (R-MS)||McCain (R-AZ)|
|Collins (R-ME)||McConnell (R-KY)|
|Coons (D-DE)||Paul (R-KY)|
|Donnelly (D-IN)||Perdue (R-GA)|
|Durbin (D-IL)||Risch (R-ID)|
|Feinstein (D-CA)||Roberts (R-KS)|
|Franken (D-MN)||Rounds (R-SD)|
|Gardner (R-CO)||Rubio (R-FL)|
|Gillibrand (D-NY)||Sasse (R-NE)|
|Grassley (R-IA)||Scott (R-SC)|
|Heinrich (D-NM)||Sessions (R-AL)|
|Heitkamp (D-ND)||Sullivan (R-AK)|
|Heller (R-NV)||Tillis (R-NC)|
|Hirono (D-HI)||Toomey (R-PA)|
|Hoeven (R-ND)||Vitter (R-LA)|
1) Find the Washington D.C. phone numbers for your 2 Senators at www.Senate.gov
2) Give them a call and ask them to “support Senator Durbin’s Amendment #4369 to S.2942, the 2017 National Defense Authorization Act.”
3) If they ask for more information you can add:
- By eliminating Sections 756 and 898 of the legislation, this amendment will ensure that the critical, cutting-edge CHD research happening at the Department of Defense (DoD) can continue.
- Congenital heart disease (CHD) is the most common birth defect and leading cause of related infant mortality. Even those who receive successful intervention are not cured. Children and adults with CHD face ongoing, costly, specialized care, and face a lifelong risk of permanent disability and premature death.
- The DoD medical research related to CHD directly impacts the health and lives of the U.S. military, veterans and their families.
- For examples of the impact on CHD look here: http://conqueringchd.org/calling-congress-support-research-not-red-tape/
- We must not let our Federal commitment to research falter.
If you are on Facebook, please consider sharing this message:
For more than twenty years, the Department of Defense’s medical research program has achieved medical research breakthroughs for service members, military families, and veterans. It is one of the largest sources for congenital heart disease (CHD) research. Some in Congress are attempting to strangle this program in red tape. Two provisions inserted into this year’s National Defense Authorization Act would effectively halt this progress and jeopardize the health of military families and veterans. I’m proud to join Senator Durbin and Senators from across the country to remove these provisions so that this life-saving research can continue. http://conqueringchd.org/calling-congress-support-research-not-red-tape/
(Don’t forget to tag your Senators)
If you are on Twitter, please share one of the following tweets:
- I’m proud to join @SenatorDurbin in supporting life-saving research for service members & vets #ResearchNotRedTape http://bit.ly/1r5M1do
- I support the #ResearchNotRedTape amendment to fund breakthrough medical research for service members & veterans: http://bit.ly/1UmgbjM
- .@ [Your Senator’s Handle], please join me in supporting @SenatorDurbin’s #ResearchNotRedTape amendment to fund @DeptofDefense medical research
Thank you for your advocating – together we are Conquering CHD!!
The Pediatric Congenital Heart Association is urging Senators to support Illinois Senator Durbin’s Amendment #4369 to S. 2943, the fiscal year 2017 National Defense Authorization Act. By eliminating Sections 756 and 898 of the legislation, this amendment will ensure that the critical, cutting-edge congenital heart disease research happening at the Department of Defense (DoD) can continue.
Congenital heart disease (CHD) is the most common birth defect and leading cause of related infant mortality. Even those who receive successful intervention are not cured. Children and adults with CHD face ongoing, costly, specialized care, and face a lifelong risk of permanent disability and premature death.
DoD-sponsored medical research related to CHD directly impacts the health and lives of the U.S. military, veterans and their families. As just one example, researchers are investigating what might explain higher rates of birth defects, including CHD, among children born in military families like these:
In January of 2007 our unborn child was diagnosed with a complex CHD via a routine ultrasound. Our lives changed forever that day. We were given three options before his birth – one was a procedure of three palliative surgeries. There were no promises or no miracles that they could give us, but they told us that they would try to repair the tiny heart as best they could. Our son was born in May of 2007 with hypoplastic left heart syndrome, a congenital heart defect where the left side of the heart is underdeveloped and has no function, basically half a heart. Our son Lucas had open heart surgery at 3 days old, a second open heart surgery at 4 months old, and his final open heart surgery at two years old to repair the half a heart he does have. He had many interventions during those first two years of life and continues to do so today. His last intervention was a stent replacement in February, a few months before his 9th birthday. CHD is lifelong and its care is complex. Lucas’ father Carlos is a U.S Army veteran and in 2010 he decided to re-enlist in the U.S Army reserve. It is a huge sacrifice for our country and for our son. Joining the military has helped our family immensely. These last couple of years we have been able to benefit from TriCare Insurance for our son and take advantage of the many benefits the military provides. I say sacrifice because my husband does spend time away from us when he is on military leave and sometimes emergencies come up and I am left to take care of things on my own when he is away. This has become part of our lives, knowing at the end it is all worth it. Our son says he wants to be a soldier like his daddy one day. I pray and hope that with innovation and research he is able to fulfill his heart’s desires! The sacrifice is truly a big one for our family, for our son’s future, and for our country whom we proudly serve! – Jennifer Iguina, Orlando, Florida
I am active duty personnel with the United States National Guard and parent to a child with CHD, the most common birth defect and a leading cause of infant mortality. My daughter Sawyer was born with only half a functioning heart and has undergone two open heart surgeries before her first birthday. She has suffered liver failure, kidney failure, failed attempts to come off the ventilator after surgery, pulmonary hypertension, chronic low blood pressure, dependency upon several continuous infusions, countless trips to the operation room for procedures, three significant cardiac arrests, and three minor ones. By some combination of incredible care and divine intervention, she survived. At eight months old, Sawyer was listed for transplant and 39 days later, she received the gift of a new, whole heart. Now, 1 year later, we have many reminders of Sawyer’s struggle to live. Her tiny chest is riddled with scars, she is fed primarily through a feeding tube, and we are playing catch up on all that she missed. We know that transplant is not a cure – that there is no cure. We know that not all kids survive the storm of CHD. It is our greatest desire and responsibility to raise awareness, raise funds, and promote research for this incredibly prevalent disease so that more parents can watch their children thrive. – Patrick Kelly, Indianapolis, IN
My daughter Rayna was born with complex CHD and it is nothing short of a medical miracle that she lived until it was discovered when she was 4. Her broken heart required emergency life-saving surgery to reconnect her “plumbing” to get blood flowing in the right direction and repair an additional hole in her heart. 4 years later, our lives are still a struggle, as we deal with complications both physically and psychologically at home and at school. Rayna prides herself on her strength and her courage, just like her father, Tim, a veteran of the Gulf War and her grandfather, a veteran of the Vietnam War. Yet, CHD has certainly had a serious impact on this proud military family. – Sara Schuh, Manitowoc, WI
Beyond helping people affected by CHD, this research can also help to save money for the military health care system. Another DoD funded researcher, Dr. Cecilia Lo, has explained how her CHD research “can help reduce healthcare costs for the Military Health System. One study showed an average bill of over $500,000 in the first 2 years for patients with a severe CHD known as hypoplastic left-heart syndrome. Hence, clinical outcomes research that can reduce postsurgical complications will have benefit not only for the patients and their families, but this can also help lessen the economic burden on the Military Health System.”
Research has brought us so far in the last few decades. Children born with critical congenital heart disease just three decades ago would not have lived past the first few weeks of life. Research can also take us so much further in the coming years. However, for this to happen, it is imperative that we not let our Federal commitment to research falter.
We need research, not red tape: Tell your Senators to support Amendment #4369 to S. 2943, the fiscal year 2017 National Defense Authorization Act, today!
The Pediatric Congenital Heart Association is thrilled to bring our latest in the series titled Research Matters. In our commitment to make research meaningful and accessible to patients and families, volunteers along with members of our Medical Advisory Board have created summaries of important research and describe what it means for you.
Plastic bronchitis (PB) is a rare but life-threatening complication that can arise following the Fontan procedure. PB patients develop large, rubbery plugs or “casts” that obstruct the airways and can lead to asphyxiation. Problems of the lymphatic system, a network of organs and vessels that drains fluid (lymph) from tissues and protects the body from infection, are thought to play a role in the disease process, but how PB develops remains poorly understood. The journal Circulation recently published a study reporting findings of abnormal circulation of lymph fluid in most patients with surgically corrected congenital heart disease (CHD) and PB and significant improvement of symptoms in these patients following interventional approaches to block the abnormal flow of lymph. These findings highlight an innovative procedure that has the potential to offer significant long-term improvement of symptoms in patients with PB. You can view the abstract here.
About this Study:
- This retrospective study expands on a previous case report1 and determines the extent of abnormalities in the lymphatic system of PB patients and the clinical response following interventions to block improper lymphatic flow. A retrospective study looks back in time using existing medical data and records.
- The retrospective case series comprises 18 patients (between the ages of two and 15) with PB and surgically corrected CHD who underwent lymphatic imaging and interventions at the Children’s Hospital of Philadelphia.
- The authors use advanced lymphatic imaging tests, including dynamic contrast-enhanced magnetic resonance (MR) lymphangiography to determine the anatomy of the patients’ lymphatic systems and the patterns of lymphatic flow.
- In 16 of 18 patients, lymphatic imaging revealed abnormal (retrograde) flow of lymph fluid from the thoracic duct into lung tissue.
- Lymphatic embolization, a procedure that seals leaks in the lymphatic system using coils, special oil-based contrast agents or glue, was performed in 17 of 18 patients.
- Significant improvements in PB symptoms were observed in 15 of the 17 patients who underwent lymphatic embolization at a median follow-up of 315 days.
- Immediate complete resolution of PB symptoms was reported in 10 of 16 patients, with one patient being cast-free for over two years.
What this Means:
- Abnormal pulmonary lymphatic flow, which the authors termed pulmonary lymphatic perfusion syndrome, is likely to be a major underlying cause of PB in Fontan patients with elevated central venous pressure (CVP).
- Advances in lymphatic imaging tests will enable the detection of lymphatic flow disorders in PB patients that may go undetected using conventional methods.
- Selective lymphatic embolization provides a safe and effective alternative to surgical thoracic duct ligation, which has also been used to treat PB.
- Although short-term results are encouraging, the medium- and long-term effects of lymphatic embolization in PB patients remain unknown. A study that follows patients over a period of years (a longitudinal study) will be required to determine long-term outcomes of this treatment.
- This study provides hope for PB patients and favorable long-term treatment outcomes have the potential to mitigate the need for heart transplantation in sufferers of PB.
1 Dori Y, Keller MS, Rychik J, and Itkin M. Successful treatment of plastic bronchitis by selective lymphatic embolization in a Fontan patient. Pediatrics. 2014;134:e590-e595.
Michael Kim is a scientist and a father of two little girls. His oldest daughter Sydney was born with total anomalous pulmonary venous return (TAPVR) in 2011. He received his B.A. in Biochemistry from the University of California, Berkeley and his Ph.D. in Cell and Structural Biology from the University of Illinois, Urbana-Champaign. He and his family currently live in Miami, FL.
In November, 2015, the Congenital Heart Futures Act Reauthorization Bill was introduced in the Senate (S.2248) and House (H.R.3952) by legislative champions:
- Senator Dick Durbin (D-IL)
- Senator Bob Casey (D-PA)
- Representative Gus Bilirakis (R-FL)
- Representative Adam Schiff (D-CA)
Current Cosponsors (Updated 3/8/16)
Are your legislators on the list?
If not email them, today!!!
Here’s more information about the CHFRA:
Original Congenital Heart Futures Act
First passed into law in 2010, the bipartisan Congenital Heart Futures Act was groundbreaking legislation authorizing research and data collection specific to Congenital Heart Disease. This law called for expanded infrastructure to track the epidemiology of CHD at the CDC and increased lifelong CHD research at the NIH.
Since the enactment of the Congenital Heart Futures Act, Congress has appropriated $11 million to the CDC for these activities. The Congenital Heart Futures Act also urged the NHLBI to continue its use of its multi-centered congenital heart research network, the Pediatric Heart Network (PHN) that help guide the care of children and adults with CHD. Together, these efforts have improved our understanding of CHD across the lifespan, the age-specific prevalence, and factors associated with dropping out of appropriate specialty care.
We are excited that the reauthorization of this important law will allow the CDC and NIH to build upon existing programs and focus on successful activities addressing this public health need.
Key Aspect of the new Reauthorization Bill
The CHFRA continues these important activities and builds on them by:
- Assessing the current research needs and projects related to CHD across the lifespan at the NIH.The bill directs the NIH to assess its current research into CHD so that we can have a better understanding of the state of biomedical research as it relates to CHD
- Expanding research into CHD. The bill directs the CDC to plan, develop and implement a cohort study that would improve understanding of CHD across the lifespan. This will help us understand healthcare utilization, demographics, lead to evidence-based practices and guidelines for CHD.
- Raising awareness of CHD through the lifespan. The bill allows for CDC to establish and implement awareness, outreach and education campaign directed at CHD across the lifespan. Those who have a CHD and their families need to understand their healthcare needs promote the need for pediatric, adolescent and adult individuals with CHD to seek and maintain lifelong, specialized care.
This comprehensive approach to CHD – the most prevalent birth defect – will address a necessary public health issue and lead to better quality of life and care for those with CHD.
Here is the complete text as introduced in the House on 11/5/15.
If you have any questions about this legislation, please contact our Director of Programs, Amy Basken, at firstname.lastname@example.org.
If you are interested in becoming an advocate for this important issue, visit the advocacy section of our website which contains information about signing-up, as well as tools to help you be an amazing advocate.
Also, consider bringing your voice to Washington D.C. as we advocate for this legislation in February!
Together, we will CONQUER CHD!