Children’s National Health System’s Comprehensive Pediatric Epilepsy Program is one of the largest and most experienced multidisciplinary epilepsy programs in the country. With a range of programs specializing in new onset epilepsy, the Ketogenic diet, intractable epilepsy, neuroinflammation, neurogenetics, epilepsy surgery and more. The epilepsy program at Children’s National is continuously working to improve care for patients through clinical innovation, active studies and utilizing the most advanced technologies in epilepsy surgery. Children’s National has one of the best surgical outcomes in the county, aided by advanced structural and functional imaging, minimally invasive techniques, deep brain stimulation, neuronavigation, neurorobotics using the ROSA stereotactic neurosurgical robot and intraoperative MRI.
https://innovationdistrict.childrensnational.org/wp-content/uploads/2018/12/Epilepsy_Infographic-feature.png300400Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2018-12-03 10:16:152018-12-03 11:13:05By the Numbers: Comprehensive Pediatric Epilepsy Program
“Who speaks for children?” That’s a question Children’s National President and CEO Kurt Newman, M.D., often asks when he talks to groups around the country. As he sees it, children’s hospitals and their pediatric specialists should follow two main principles: Speak out to our nation’s policy leaders, local government officials and other business leaders about what’s right for the most vulnerable among us, namely our children; and listen to parents, helping them find their voices when it comes to health care decisions.
Pediatric specialists have a unique opportunity to serve as the voice for children and families who are so often lost in state and federal health care policy debates. As the children’s hospital located in the nation’s capital, Children’s National has leveraged both its expertise and close proximity to key decision makers to engage in a dialogue about issues vital to the health and well-being of kids.
Amplifying the CHIP call to action
In a perfect example of politics getting in the way of doing the right thing for children, it took almost four months for Congress to extend funding for the Children’s Health Insurance Plan (CHIP), which provides health coverage for nearly 9 million children of working families in the United States. CHIP often supports the patients with the most medically complex needs – and is pivotal to their care at Children’s National and hospitals around the country.
During the agonizing wait for the extension, Dr. Newman, as well as countless Children’s National pediatricians and government affairs leaders, spent hours encouraging, asking and telling policymakers at every level of government about the importance of investing more in children, not less.
He stresses that it’s not just the right thing to do, it’s a wise investment. Spending dollars on children for prevention, early detection and education means that we have a healthier workforce, military and national community. It’s less expensive to treat mental and behavioral health problems, asthma and diabetes early on, before they become chronic issues.
The steady drumbeat from Children’s National supported national advocacy urging Congress to protect health insurance for the millions of children who rely on CHIP for all their health care needs.
The restored measure makes a world of difference for working families, but additional advocacy is needed as Congress continues to seek agreement on a long-term budget and other important legislation, some of which could have tremendous impacts on children’s health.
Leading a conversation about the needs of military families with terminally ill children
Concurrent care for terminally ill children – where lifesaving treatments such as chemotherapy and physical rehabilitation can take place alongside comfort measures and palliative care like 24-hour nursing – is covered by most insurance programs, including CHIP and Medicaid. However, until recently, military families covered under Tricare with such desperately ill children were forced to choose coverage for one OR the other.
Children’s National brought this challenge to its coalition partners at Tricare for Kids after watching several military families forced to make an agonizing decision between comfort and treatment. The coalition, a collection of military advocacy groups, children’s hospitals and other advocates, then fought hard to add a landmark provision to the National Defense Authorization Act allowing military families concurrent care coverage for their children. Implementing Tricare adjustments that deviate from Medicare provisions has been extremely difficult and politically fraught in the past, but when advocates and lawmakers focused on doing what’s right for kids, there was little to no Capitol Hill opposition and the change was easily passed in both the House and Senate.
In addition to advocacy, every day, a children’s hospital should help parents find their voices as active, empowered and engaged team members when it comes to caring for a sick child.
“It is crucial for a child’s care team to include his or her parents – the people who know them best,” Dr. Newman recently wrote. “I want every parent to feel comfortable being a true champion for their children at the pediatrician’s office or the hospital in the same way they champion them on the playing field or in the classroom.”
“That’s why I wrote the book Healing Children,” he says during book talks and interviews. “If parents knew what I knew, they’d make sure the doctors and nurses caring for their kids were experts in treating children. These stories show the power of pediatric specialty medicine, illustrate why parents should think ahead about how best to demand the care they deserve when something bad happens and show why we should always listen to parents’ concerns.”
Children and their families are at the center of every decision made at Children’s National, from day-to-day care planning to large scale business initiatives. When focusing on doing what’s right for them, everyone – the children, their families, the community AND the healthcare organization – benefits.
https://innovationdistrict.childrensnational.org/wp-content/uploads/2018/02/Kurt-Newman-capitol-building.jpg300400Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2018-02-08 11:20:202023-07-03 10:49:31Leading conversations about what’s right for children
The single most important factor in parents deciding to accept vaccines is one-on-one contact with an informed, caring and concerned pediatrician.
When facing vaccine-hesitant parents, the key for me is to be collaborative and not to dismiss their questions or concerns. That’s why the American Academy of Pediatrics advises pediatricians to talk with parents to determine their individual concerns so we can address them. The decision whether to immunize a child ultimately rests with the parents. It’s understandable for parents to be worried – but it also critical that they get the facts.
The conversation can begin simply.
Here’s what I say to vaccine-hesitant parents: You work hard to protect your child every day. Vaccines are as important as feeding your child healthy foods, using a car seat or seat belt and installing a smoke detector.
Here’s what I ask vaccine-hesitant parents: What information can I provide to help you make an informed decision, or to help you feel comfortable with vaccinating your child? As with most of what we pediatricians do, my goal is to partner with the parent so that we help their child to attain optimal health as a team.
I am a parent. Although my husband and I did not hesitate in vaccinating our daughter, I understand why parents want to feel comfortable about the choices they make for their children.
I also am a pediatrician. I have seen children die from the flu or develop a life-threatening brain infection from chickenpox. Thanks to the herd immunity that results from decades of vaccination, many of these diseases are now rare in the United States, but there are still episodic outbreaks throughout the country that remind us why we vaccinate children.
Vaccinating is the norm. Only about 1 percent of children in the United States receive no vaccinations. Most parents who are hesitant about vaccines are not opposed to immunizing their children; they are unsure or have unanswered questions. Fortunately, most vaccine-hesitant parents are responsive to receiving information about vaccines, consider vaccinating their children and do not oppose all vaccines.
When it comes to vaccine-hesitant parents, one-on-one counseling is effective. The single most important factor in parents deciding to accept vaccines is one-on-one contact with an informed, caring and concerned pediatrician.
About the Author
Lanre Omojokun Falusi, M.D., F.A.A.P. General pediatrician and Associate Medical Director for Municipal and Regional Affairs at Child Health Advocacy Institute
https://innovationdistrict.childrensnational.org/wp-content/uploads/2017/04/BabyVaccination.jpg300400Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2017-04-13 09:15:512017-10-19 15:14:20How to talk with parents who are vaccine hesitant
Boosting research and innovation to find cures and develop new medical devices for children and adults who carry childhood and rare diseases will transform our health system and save lives.
Until now, medical research and innovation have been severely limited in the U.S. by regulations and lack of funding. On behalf of healthcare systems and medical innovators across the U.S., we applaud the House and Senate for their tremendous bipartisan effort to pass the 21st Century Cures Act that will transform our health and research system and enable us to more effectively fight diseases.
We are encouraged by the provisions in the act that break down regulatory barriers and expedite the approvals of drugs and devices. We are particularly excited about the provisions to increase funding to the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), as well as the establishment of precision medicine, the cancer moonshot initiatives and new programs that will improve our mental health system and fight the worsening opioid epidemic. Boosting research and innovation to find cures and develop new medical devices for children and adults who carry childhood and rare diseases is at the core of our mission at Children’s National. Our researchers are working to find new biomarkers, map the human genome, develop medical devices for children and personalize medicine to make treatment and cures more targeted and effective. They are also studying pain and looking at new ways to detect the presence of opioids and cannabinoids. Thanks in large part to funding from the NIH, institutions like ours are able to continue groundbreaking biomedical research. This legislation brings hope to our children and their families, especially those who volunteer to participate in research, that our scientific breakthroughs will be translated to drugs, therapeutics and medical devices safer and faster.
Another victory for all of us in the pediatric medical device field is the expansion of the Humanitarian Use Device program to include devices used by up to 8,000 individuals rather than the current 4,000 individual cap. The hard cap at 4,000 individuals was excessively restrictive and was a significant disincentive blocking the development of devices for rare diseases and conditions, especially those affecting children. The 4,000 limit was also an obstacle for the development of diagnostic devices, since the FDA interprets the limitation to apply to the number of patients that would receive the diagnostic test, rather than the number of individuals affected or manifesting the rare disease.
Currently, medical device development for children lags woefully behind adults. Children have medical device needs that are considerably different from adults. The subtleties of developing devices for pediatric patients are fundamentally different than those for adults. The challenges include small markets, scarce financial incentives, regulatory issues, and the procedural dissimilarities of premarket clinical trials and post-market surveillance. The lack of available pediatric devices often forces clinicians to treat pediatric patients by using or modifying adult devices, adjusting implants designed for other purposes, and using implants designed decades ago. Because devices are being used “off-label,” clinicians and regulators are not able to collect information on their effectiveness. This act promises a faster regulatory approval process, which increases the enthusiasm of the venture community in investing in drug and device development, which in turn can help startup companies in the field secure private capital.
Thank you to everyone who worked tirelessly to create this bill and to those who lobbied on its behalf. It’s efforts like the 21st Century Cures Act, that break down regulatory barriers and provide the resources to expedite the approvals of life-saving drugs and devices, that save children’s lives.
About the Author
Kolaleh Eskandanian, Ph.D. Executive Director
Sheikh Zayed Institute for Pediatric Surgical Innovation Research interests: device development, entrepreneurship, innovation in health care
https://innovationdistrict.childrensnational.org/wp-content/uploads/2016/09/PerspectivesImage_What-Rare-Diseases-Teach-Us_sm-2-e1494012190946.jpg300399Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2017-02-03 08:53:322017-08-15 10:16:34It took an act of Congress to save lives
Think of the urea cycle as a river. A normal river flows to where it empties, similar to the process the body uses to rid itself of harmful ammonia via the urea cycle.
I recently presented at Spotlight Health 2016, the health-focused portion of the Aspen Ideas Festival, about how studying and treating rare diseases can inform innovative treatment approaches for more common medical conditions. Our Division of Genetics and Metabolism sees more than 8,000 patients a year with rare conditions, such as urea cycle disorders and Down syndrome. Through decades of analyzing these diseases and treating children who have them, we have developed therapies that apply not only for the small numbers of patients who have rare diseases but also for more common conditions caused by environmental factors leading to a similar physical response.
For instance, we’ve demonstrated that the stress of cardiopulmonary bypass during surgery to correct congenital heart disease creates conditions similar to a critical blockage in the urea cycle, specifically the biochemical creation of citrulline, a key biochemical.
When that cycle is unable to flow, or continuing the river analogy, becomes dammed up due to a genetic defect, as in urea cycle disorders, or an environmental factor, such as the extreme stress of cardiopulmonary bypass, the body is unable to make enough citrulline which is critical for maintaining normal blood pressure. We’ve shown that replacing that citrulline can correct a lot of these problems whether caused by rare genetics or the cardiac OR.
Applying rare disease treatment approaches to more common diseases is not limited to urea cycle disorders. Work by my colleague Carlos Ferreira, MD, demonstrates how a rare genetic calcifying arterial disease (generalized arterial calcification in infancy, GACI) causes the same calcium buildup and blockages as chronic kidney disease. Dr. Ferreira hypothesizes that life-saving drugs developed for use in GACI could help patients with long-term kidney disease by averting organ damage and eventual failure caused by the buildup of calcium crystals.
The more we learn about these rare diseases, the more we come to appreciate the tremendous implications our findings have for patients with the rare disorders and potentially hundreds of thousands of others.
About the Author
Marshall Summar, MD Research interests: The interactions between common genetic variations and the environment.
https://innovationdistrict.childrensnational.org/wp-content/uploads/2016/09/PerspectivesImage_What-Rare-Diseases-Teach-Us_sm-2-e1494012190946.jpg300399Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2016-08-09 19:30:362024-09-06 15:15:45What rare diseases teach us about common ones
Common, lifelong health conditions like diabetes and hypertension have footprints that can be traced back to the womb. With advanced fetal MRI we seek to understand as much as possible about brain development during the time in utero. Non-invasive imaging technology helps us to identify signs of abnormal fetal development that may facilitate earlier diagnoses of chronic conditions and intervention.
We’re exploiting both the power and safety of MRI to develop ways to pick up early signs and signals in fetuses whose brain development may be veering off in the wrong direction. Using this advanced technology we can begin to detect varying signals or other signs of distress. These signs of distress may appear in the form of a brain chemical imbalance or a structural brain abnormality that is too subtle to be seen by an ultrasound or other scan. We now have the ability to leverage magnetic resonance imaging to examine the brain in utero for even the most subtle derailments that can lead to lifelong consequences.
The first nine months of life, when a fetus is in the womb, is a time of unparalleled growth and a critical time for fetal brain development. As we examine the maturation of the fetal brain, we know that each and every cortical fold represents future function lost or gained and lays the fundamental background or platform from which critical functions will emerge such as language and social and behavioral development.
We are developing technology that can quickly and reliably pick up early signals of a fetal brain that’s going off route to provide the ability to access therapeutic windows that are currently inaccessible. Earlier identification and intervention can improve the quality of life for children and potentially could even reverse the abnormality.
Early identification of fetal distress is critical. To be able to provide an intervention you must first be able to know that a fetus is getting into trouble, and you must be able to identify the problem early enough, in order to intervene before it has already caused injury to the fetus.
About the Author
Catherine Limperopoulos, Ph.D. Director, MRI Research of the Developing Brain; Director, Diagnostic Imaging and Radiology/Fetal and Transitional Medicine Research interests: Fetal neonatal brain injury
https://innovationdistrict.childrensnational.org/wp-content/uploads/2016/09/PerspectivesImage_Exploration-of-the-Developing-Brain.jpg16272013Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2016-08-08 18:08:522017-08-15 10:19:59Exploration of the developing brain
Post-mortem image shows significant narrowing of the artery in an infant with GACI due to buildup of calcium crystals between the vessel wall’s inner and middle layers. Inset: Normal non-calcified artery. Patients with GACI lack the protein ENPP1, which is responsible for creating pyrophosphate. Pyrophosphate plays a critical role in preventing calcium crystallization and accumulation.
One of the first patients I ever saw with generalized arterial calcification of infancy (GACI) was actually the third child with this condition born to the same parents. GACI is a rare genetic disease, occurring in 1 of 200,000 live births. Unfortunately, as is common in GACI, two of the family’s children previously succumbed to the disorder within the first 6 weeks of life.
GACI causes calcium to build up in the arteries, causing critical blockages that reduce blood flow to organs leading to diminished function, including stroke, heart attack, and death.
Etidronate, a pyrophosphate analog developed to treat osteoporosis, has shown limited success at replacing the pyrophosphate for patients with GACI. However, more than 55 percent of children with GACI still die before their first birthday.
We need more effective solutions. Several treatment options are in development, including the administration of ENPP1 bound to an antibody, which has shown to provide a marked survival improvement in a mouse model of the disease.
These new solutions could translate to more effective treatment of GACI but also other conditions causing calcification in the arteries, particularly the calcium buildup associated with long-term kidney disease. A treatment that potentially reduces morbidity for the estimated 20 million plus Americans with chronic kidney disease would have tremendous health and economic benefits.
Developing more targeted therapies for GACI could allow this to be the outcome for many more patients, both children with GACI and potentially also patients affected by chronic kidney disease.
About the Author
Carlos Ferreira Lopez, M.D.
Geneticist Specialist
https://innovationdistrict.childrensnational.org/wp-content/uploads/2016/09/PerspectivesImage_How-a-Rare-Disease-Treatment_sm-3.jpg373600Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2016-08-07 18:11:062019-06-20 09:15:32How a rare disease treatment could impact millions
Changes or errors in an individual’s DNA are often at the root of many disorders. Personalized Sequencing is a fast, cost-effective way to look at a region of the genome without repeat tests and blood draws.
Until recently, doctors and patients had two choices for ordering genetic sequencing panels to identify underlying causes of disease—Individual Gene Testing (single genes and gene panels) or Whole Exome Sequencing.
Individual gene testing is the standard testing modality. Physicians identify a single gene to analyze for change or mutation. If results are negative, they order another individual test, requiring a repeat visit and another blood draw. The process is repeated again and again based on likely candidate genes for a specific disease or symptom. If a physician is very lucky, it takes only a few rounds of tests to find the culprit. More likely, however, the number of individual tests grows large, taking months of patients’ time and increasing healthcare costs significantly. By contrast, Whole Exome Sequencing includes sequencing and analyses of 25,000 genes. It is more expensive when compared with individual gene testing and takes three to six months to complete. When complete, the results often can be more than the doctor and patient bargained for: Potentially revealing a genetic problem that is unrelated to the patient’s current symptoms. A 3-year-old with seizures also may come up positive for BRCA1, the breast cancer gene. Knowing that doesn’t help understand what causes the seizures or how to best treat them. In this model, you receive everything you could ever want. Because there is so much information, however, the results are difficult to interpret or to inform treatment decisions.
We’ve come up with a different way: Personalized Sequencing Panels, a precision medicine initiative at Children’s National Health System. We offer physicians a menu of genetic regions from which to choose when they order a sequencing analysis. While a medical exome is still sequenced, we only analyze a subset of genes that the physician and geneticist think are the most likely targets, which reduces the cost and time for analysis compared to Whole Exome Sequencing. Targeting regions in this approach shortens our turnaround time for results to two or three weeks. If the first identified region shows nothing, we can return to data we’ve already collected for a second look.
We’ve been using the model for 18 months and have tested more than 1,000 patients this way. Eighty percent of physicians prefer to “create their own test” using our menu of options. Rather than bringing a one-size-fits-all test to the patient, we bring the patient their very own personalized test.
About the Author
Sean Hofherr Laboratory Medicine Specialist
https://innovationdistrict.childrensnational.org/wp-content/uploads/2016/09/PerspectivesImage_Personalized-Sequencing-Tailors_sm-2.jpg402600Innovation Districthttps://innovationdistrict.childrensnational.org/wp-content/uploads/2023/12/innovationdistrict_logo-1-1030x165.pngInnovation District2016-08-06 18:12:362017-08-15 10:05:25Personalized sequencing tailors genetic tests for each patient
By the Numbers: Comprehensive Pediatric Epilepsy Program
Children’s National Health System’s Comprehensive Pediatric Epilepsy Program is one of the largest and most experienced multidisciplinary epilepsy programs in the country. With a range of programs specializing in new onset epilepsy, the Ketogenic diet, intractable epilepsy, neuroinflammation, neurogenetics, epilepsy surgery and more. The epilepsy program at Children’s National is continuously working to improve care for patients through clinical innovation, active studies and utilizing the most advanced technologies in epilepsy surgery. Children’s National has one of the best surgical outcomes in the county, aided by advanced structural and functional imaging, minimally invasive techniques, deep brain stimulation, neuronavigation, neurorobotics using the ROSA stereotactic neurosurgical robot and intraoperative MRI.
Leading conversations about what’s right for children
“Who speaks for children?” That’s a question Children’s National President and CEO Kurt Newman, M.D., often asks when he talks to groups around the country. As he sees it, children’s hospitals and their pediatric specialists should follow two main principles: Speak out to our nation’s policy leaders, local government officials and other business leaders about what’s right for the most vulnerable among us, namely our children; and listen to parents, helping them find their voices when it comes to health care decisions.
Pediatric specialists have a unique opportunity to serve as the voice for children and families who are so often lost in state and federal health care policy debates. As the children’s hospital located in the nation’s capital, Children’s National has leveraged both its expertise and close proximity to key decision makers to engage in a dialogue about issues vital to the health and well-being of kids.
Amplifying the CHIP call to action
In a perfect example of politics getting in the way of doing the right thing for children, it took almost four months for Congress to extend funding for the Children’s Health Insurance Plan (CHIP), which provides health coverage for nearly 9 million children of working families in the United States. CHIP often supports the patients with the most medically complex needs – and is pivotal to their care at Children’s National and hospitals around the country.
During the agonizing wait for the extension, Dr. Newman, as well as countless Children’s National pediatricians and government affairs leaders, spent hours encouraging, asking and telling policymakers at every level of government about the importance of investing more in children, not less.
He stresses that it’s not just the right thing to do, it’s a wise investment. Spending dollars on children for prevention, early detection and education means that we have a healthier workforce, military and national community. It’s less expensive to treat mental and behavioral health problems, asthma and diabetes early on, before they become chronic issues.
The steady drumbeat from Children’s National supported national advocacy urging Congress to protect health insurance for the millions of children who rely on CHIP for all their health care needs.
The restored measure makes a world of difference for working families, but additional advocacy is needed as Congress continues to seek agreement on a long-term budget and other important legislation, some of which could have tremendous impacts on children’s health.
Leading a conversation about the needs of military families with terminally ill children
Concurrent care for terminally ill children – where lifesaving treatments such as chemotherapy and physical rehabilitation can take place alongside comfort measures and palliative care like 24-hour nursing – is covered by most insurance programs, including CHIP and Medicaid. However, until recently, military families covered under Tricare with such desperately ill children were forced to choose coverage for one OR the other.
Children’s National brought this challenge to its coalition partners at Tricare for Kids after watching several military families forced to make an agonizing decision between comfort and treatment. The coalition, a collection of military advocacy groups, children’s hospitals and other advocates, then fought hard to add a landmark provision to the National Defense Authorization Act allowing military families concurrent care coverage for their children. Implementing Tricare adjustments that deviate from Medicare provisions has been extremely difficult and politically fraught in the past, but when advocates and lawmakers focused on doing what’s right for kids, there was little to no Capitol Hill opposition and the change was easily passed in both the House and Senate.
In addition to advocacy, every day, a children’s hospital should help parents find their voices as active, empowered and engaged team members when it comes to caring for a sick child.
“It is crucial for a child’s care team to include his or her parents – the people who know them best,” Dr. Newman recently wrote. “I want every parent to feel comfortable being a true champion for their children at the pediatrician’s office or the hospital in the same way they champion them on the playing field or in the classroom.”
“That’s why I wrote the book Healing Children,” he says during book talks and interviews. “If parents knew what I knew, they’d make sure the doctors and nurses caring for their kids were experts in treating children. These stories show the power of pediatric specialty medicine, illustrate why parents should think ahead about how best to demand the care they deserve when something bad happens and show why we should always listen to parents’ concerns.”
Children and their families are at the center of every decision made at Children’s National, from day-to-day care planning to large scale business initiatives. When focusing on doing what’s right for them, everyone – the children, their families, the community AND the healthcare organization – benefits.
How to talk with parents who are vaccine hesitant
The single most important factor in parents deciding to accept vaccines is one-on-one contact with an informed, caring and concerned pediatrician.
When facing vaccine-hesitant parents, the key for me is to be collaborative and not to dismiss their questions or concerns. That’s why the American Academy of Pediatrics advises pediatricians to talk with parents to determine their individual concerns so we can address them. The decision whether to immunize a child ultimately rests with the parents. It’s understandable for parents to be worried – but it also critical that they get the facts.
The conversation can begin simply.
Here’s what I say to vaccine-hesitant parents: You work hard to protect your child every day. Vaccines are as important as feeding your child healthy foods, using a car seat or seat belt and installing a smoke detector.
Here’s what I ask vaccine-hesitant parents: What information can I provide to help you make an informed decision, or to help you feel comfortable with vaccinating your child? As with most of what we pediatricians do, my goal is to partner with the parent so that we help their child to attain optimal health as a team.
I am a parent. Although my husband and I did not hesitate in vaccinating our daughter, I understand why parents want to feel comfortable about the choices they make for their children.
I also am a pediatrician. I have seen children die from the flu or develop a life-threatening brain infection from chickenpox. Thanks to the herd immunity that results from decades of vaccination, many of these diseases are now rare in the United States, but there are still episodic outbreaks throughout the country that remind us why we vaccinate children.
Vaccinating is the norm. Only about 1 percent of children in the United States receive no vaccinations. Most parents who are hesitant about vaccines are not opposed to immunizing their children; they are unsure or have unanswered questions. Fortunately, most vaccine-hesitant parents are responsive to receiving information about vaccines, consider vaccinating their children and do not oppose all vaccines.
When it comes to vaccine-hesitant parents, one-on-one counseling is effective. The single most important factor in parents deciding to accept vaccines is one-on-one contact with an informed, caring and concerned pediatrician.
About the Author
General pediatrician and Associate Medical Director for Municipal and Regional Affairs at Child Health Advocacy Institute
It took an act of Congress to save lives
Boosting research and innovation to find cures and develop new medical devices for children and adults who carry childhood and rare diseases will transform our health system and save lives.
Until now, medical research and innovation have been severely limited in the U.S. by regulations and lack of funding. On behalf of healthcare systems and medical innovators across the U.S., we applaud the House and Senate for their tremendous bipartisan effort to pass the 21st Century Cures Act that will transform our health and research system and enable us to more effectively fight diseases.
We are encouraged by the provisions in the act that break down regulatory barriers and expedite the approvals of drugs and devices. We are particularly excited about the provisions to increase funding to the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), as well as the establishment of precision medicine, the cancer moonshot initiatives and new programs that will improve our mental health system and fight the worsening opioid epidemic. Boosting research and innovation to find cures and develop new medical devices for children and adults who carry childhood and rare diseases is at the core of our mission at Children’s National. Our researchers are working to find new biomarkers, map the human genome, develop medical devices for children and personalize medicine to make treatment and cures more targeted and effective. They are also studying pain and looking at new ways to detect the presence of opioids and cannabinoids. Thanks in large part to funding from the NIH, institutions like ours are able to continue groundbreaking biomedical research. This legislation brings hope to our children and their families, especially those who volunteer to participate in research, that our scientific breakthroughs will be translated to drugs, therapeutics and medical devices safer and faster.
Another victory for all of us in the pediatric medical device field is the expansion of the Humanitarian Use Device program to include devices used by up to 8,000 individuals rather than the current 4,000 individual cap. The hard cap at 4,000 individuals was excessively restrictive and was a significant disincentive blocking the development of devices for rare diseases and conditions, especially those affecting children. The 4,000 limit was also an obstacle for the development of diagnostic devices, since the FDA interprets the limitation to apply to the number of patients that would receive the diagnostic test, rather than the number of individuals affected or manifesting the rare disease.
Currently, medical device development for children lags woefully behind adults. Children have medical device needs that are considerably different from adults. The subtleties of developing devices for pediatric patients are fundamentally different than those for adults. The challenges include small markets, scarce financial incentives, regulatory issues, and the procedural dissimilarities of premarket clinical trials and post-market surveillance. The lack of available pediatric devices often forces clinicians to treat pediatric patients by using or modifying adult devices, adjusting implants designed for other purposes, and using implants designed decades ago. Because devices are being used “off-label,” clinicians and regulators are not able to collect information on their effectiveness. This act promises a faster regulatory approval process, which increases the enthusiasm of the venture community in investing in drug and device development, which in turn can help startup companies in the field secure private capital.
Thank you to everyone who worked tirelessly to create this bill and to those who lobbied on its behalf. It’s efforts like the 21st Century Cures Act, that break down regulatory barriers and provide the resources to expedite the approvals of life-saving drugs and devices, that save children’s lives.
About the Author
Executive Director
Sheikh Zayed Institute for Pediatric Surgical Innovation
Research interests: device development, entrepreneurship, innovation in health care
What rare diseases teach us about common ones
Think of the urea cycle as a river. A normal river flows to where it empties, similar to the process the body uses to rid itself of harmful ammonia via the urea cycle.
I recently presented at Spotlight Health 2016, the health-focused portion of the Aspen Ideas Festival, about how studying and treating rare diseases can inform innovative treatment approaches for more common medical conditions. Our Division of Genetics and Metabolism sees more than 8,000 patients a year with rare conditions, such as urea cycle disorders and Down syndrome. Through decades of analyzing these diseases and treating children who have them, we have developed therapies that apply not only for the small numbers of patients who have rare diseases but also for more common conditions caused by environmental factors leading to a similar physical response.
For instance, we’ve demonstrated that the stress of cardiopulmonary bypass during surgery to correct congenital heart disease creates conditions similar to a critical blockage in the urea cycle, specifically the biochemical creation of citrulline, a key biochemical.
When that cycle is unable to flow, or continuing the river analogy, becomes dammed up due to a genetic defect, as in urea cycle disorders, or an environmental factor, such as the extreme stress of cardiopulmonary bypass, the body is unable to make enough citrulline which is critical for maintaining normal blood pressure. We’ve shown that replacing that citrulline can correct a lot of these problems whether caused by rare genetics or the cardiac OR.
Applying rare disease treatment approaches to more common diseases is not limited to urea cycle disorders. Work by my colleague Carlos Ferreira, MD, demonstrates how a rare genetic calcifying arterial disease (generalized arterial calcification in infancy, GACI) causes the same calcium buildup and blockages as chronic kidney disease. Dr. Ferreira hypothesizes that life-saving drugs developed for use in GACI could help patients with long-term kidney disease by averting organ damage and eventual failure caused by the buildup of calcium crystals.
The more we learn about these rare diseases, the more we come to appreciate the tremendous implications our findings have for patients with the rare disorders and potentially hundreds of thousands of others.
About the Author
Research interests: The interactions between common genetic variations and the environment.
Exploration of the developing brain
Common, lifelong health conditions like diabetes and hypertension have footprints that can be traced back to the womb. With advanced fetal MRI we seek to understand as much as possible about brain development during the time in utero. Non-invasive imaging technology helps us to identify signs of abnormal fetal development that may facilitate earlier diagnoses of chronic conditions and intervention.
We’re exploiting both the power and safety of MRI to develop ways to pick up early signs and signals in fetuses whose brain development may be veering off in the wrong direction. Using this advanced technology we can begin to detect varying signals or other signs of distress. These signs of distress may appear in the form of a brain chemical imbalance or a structural brain abnormality that is too subtle to be seen by an ultrasound or other scan. We now have the ability to leverage magnetic resonance imaging to examine the brain in utero for even the most subtle derailments that can lead to lifelong consequences.
The first nine months of life, when a fetus is in the womb, is a time of unparalleled growth and a critical time for fetal brain development. As we examine the maturation of the fetal brain, we know that each and every cortical fold represents future function lost or gained and lays the fundamental background or platform from which critical functions will emerge such as language and social and behavioral development.
We are developing technology that can quickly and reliably pick up early signals of a fetal brain that’s going off route to provide the ability to access therapeutic windows that are currently inaccessible. Earlier identification and intervention can improve the quality of life for children and potentially could even reverse the abnormality.
Early identification of fetal distress is critical. To be able to provide an intervention you must first be able to know that a fetus is getting into trouble, and you must be able to identify the problem early enough, in order to intervene before it has already caused injury to the fetus.
About the Author
Director, MRI Research of the Developing Brain; Director, Diagnostic Imaging and Radiology/Fetal and Transitional Medicine
Research interests: Fetal neonatal brain injury
How a rare disease treatment could impact millions
Post-mortem image shows significant narrowing of the artery in an infant with GACI due to buildup of calcium crystals between the vessel wall’s inner and middle layers. Inset: Normal non-calcified artery. Patients with GACI lack the protein ENPP1, which is responsible for creating pyrophosphate. Pyrophosphate plays a critical role in preventing calcium crystallization and accumulation.
One of the first patients I ever saw with generalized arterial calcification of infancy (GACI) was actually the third child with this condition born to the same parents. GACI is a rare genetic disease, occurring in 1 of 200,000 live births. Unfortunately, as is common in GACI, two of the family’s children previously succumbed to the disorder within the first 6 weeks of life.
GACI causes calcium to build up in the arteries, causing critical blockages that reduce blood flow to organs leading to diminished function, including stroke, heart attack, and death.
Etidronate, a pyrophosphate analog developed to treat osteoporosis, has shown limited success at replacing the pyrophosphate for patients with GACI. However, more than 55 percent of children with GACI still die before their first birthday.
We need more effective solutions. Several treatment options are in development, including the administration of ENPP1 bound to an antibody, which has shown to provide a marked survival improvement in a mouse model of the disease.
These new solutions could translate to more effective treatment of GACI but also other conditions causing calcification in the arteries, particularly the calcium buildup associated with long-term kidney disease. A treatment that potentially reduces morbidity for the estimated 20 million plus Americans with chronic kidney disease would have tremendous health and economic benefits.
Developing more targeted therapies for GACI could allow this to be the outcome for many more patients, both children with GACI and potentially also patients affected by chronic kidney disease.
About the Author
Geneticist Specialist
Personalized sequencing tailors genetic tests for each patient
Changes or errors in an individual’s DNA are often at the root of many disorders. Personalized Sequencing is a fast, cost-effective way to look at a region of the genome without repeat tests and blood draws.
Until recently, doctors and patients had two choices for ordering genetic sequencing panels to identify underlying causes of disease—Individual Gene Testing (single genes and gene panels) or Whole Exome Sequencing.
Individual gene testing is the standard testing modality. Physicians identify a single gene to analyze for change or mutation. If results are negative, they order another individual test, requiring a repeat visit and another blood draw. The process is repeated again and again based on likely candidate genes for a specific disease or symptom. If a physician is very lucky, it takes only a few rounds of tests to find the culprit. More likely, however, the number of individual tests grows large, taking months of patients’ time and increasing healthcare costs significantly. By contrast, Whole Exome Sequencing includes sequencing and analyses of 25,000 genes. It is more expensive when compared with individual gene testing and takes three to six months to complete. When complete, the results often can be more than the doctor and patient bargained for: Potentially revealing a genetic problem that is unrelated to the patient’s current symptoms. A 3-year-old with seizures also may come up positive for BRCA1, the breast cancer gene. Knowing that doesn’t help understand what causes the seizures or how to best treat them. In this model, you receive everything you could ever want. Because there is so much information, however, the results are difficult to interpret or to inform treatment decisions.
We’ve come up with a different way: Personalized Sequencing Panels, a precision medicine initiative at Children’s National Health System. We offer physicians a menu of genetic regions from which to choose when they order a sequencing analysis. While a medical exome is still sequenced, we only analyze a subset of genes that the physician and geneticist think are the most likely targets, which reduces the cost and time for analysis compared to Whole Exome Sequencing. Targeting regions in this approach shortens our turnaround time for results to two or three weeks. If the first identified region shows nothing, we can return to data we’ve already collected for a second look.
We’ve been using the model for 18 months and have tested more than 1,000 patients this way. Eighty percent of physicians prefer to “create their own test” using our menu of options. Rather than bringing a one-size-fits-all test to the patient, we bring the patient their very own personalized test.
About the Author
Laboratory Medicine Specialist