It took more than a month to properly diagnose our second son, Artur Bucar Santos. The odyssey started in 2002 in a poor region in Brazil and ends in Pittsburgh, Pennsylvania in the Northeast of the United States. In August 2005, my son Artur was the first Brazilian cured from Maple Syrup Urine Disease, or MSUD for short. Unlike most stories of children born with a rare disease in Brazil, ours ends with a happy ending.
When my brother was born, I had no idea of what was happening. Why was everyone only caring about him as if I did not exist and why did we have to move from my home country to a place very far from my friends. With strong family support I overcame my obstacles and today, more than ever, I am focused in helping other families like mine.
The increasing availability of treatments and the importance of early inter- vention have stimulated newborn screening (NBS) for lysosomal storage dis- eases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.
Duchenne muscular dystrophy (DMD) is an X-linked disorder character- ized by rapid progression of muscle degeneration that occurs early in life. The incidence rate is estimated at 1 in 3500 boys worldwide. The effective emerg- ing treatment methods and strategies have results in growing interest of dis- cussion regarding newborn screening (NBS) for DMD.
Spinal muscular atrophy (SMA) is one of the most common lethal reces- sive genetic conditions, with an incidence of 1 in 10,000 births. The con- dition is associated with significant motor disability, respiratory and nutri- tional compromise, and death in infancy or childhood in more than 50% of affected children.
Severe combined immunodeficiency (SCID) is a life-threatening disease characterized by a disturbed development of T and B cells. SCID can be screened by measuring T-cell receptor excision circles (TRECs), a marker of normal T lymphopoiesis. Newborn screening (NBS) for SCID has already been initiated in several countries to save 1 in 60,000 newborns carrying this disease.
Introduction: Lysosomal storage disorders (LSD’s) are a group of more than 40 disorders caused by the specific deficiency of enzymes (& co-factors) within the lysosome. This leads to the accumulation of substrates, lipids, sphingolipids and mucopolysaccharides resulting in organelle and cellular dysfunction and the pathology in the LSD’s. The estimated incidence has been determined to be as high as 1 in 7,000 in the Australian population (1), even higher in certain ethic groups.
Flavia Balbo Piazzon graduate in medicine at Faculdade de Medicina de Marília (2002). PhD on Pathology and Genetics at FMUSP. Inborn Errors of Metabolism and Newborn Screening consultant at APAE DE SÃO PAULO. Clinical Geneticist with experience in Pediatrics, Medical Genetics, Rare Diseases and Inborn Errors of Metabolism.
Abstract Background: The recently completed Uganda Sickle Surveillance Study (US3) documented a high prevalence of sickle cell trait (13.3%) and disease (0.7%) among 97361 HIV-exposed infants and toddlers, with non-uniform geospatial distribution across the country. However this survey was done among HIV exposed infants. Following US3, the Uganda Ministry of Health began a prospective targeted newborn hemoglobinopathy screening program to (1) confirm trait and disease estimates within high-burden districts; (2) compare the prevalence among both HIV-exposed and non-exposed chil- dren; (3) validate the proposed HIV co-morbidity; and (4) demonstrate the feasibility of conducting targeted new born screening program in a resource limited setting.
Children born with the rare SCID disorder can be cured with bone marrow transplantation or gene therapy. However, without the benefit of early detection, lives are lost. Bobby Gaspar, Professor of Pediatrics and Immunology at University College London, is working towards implementing
“Newborn screening is not simply buying a kit or a machine; it’s a whole approach of analysis and interpretation. Now, it’s time to convince the authorities to move forward”, says Dr. Issam Khneisser, NBS pioneer in the Middle East and North Africa (MENA) region.
A video created in South Africa with the support of the Newborn Screening Laboratory at North-West University and the Technology Innovation Agency addresses the lack of neonatal screening in South Africa. Through the stories of three South African families whose babies could have been saved permanent disability and even untimely death, the video urges all mothers to make sure their babies are screened.
Newborn screening program managers from 12 countries in the Asia Pacific Region attended the Fifth Workshop on Consolidating Newborn Screening Efforts in the Asia-Pacific Region in order to establish guidelines for regionalization, collaboration, policy development and networking.
Like many Asian countries, India has welcomed newborn screening (NBS) as a valuable public health programme for the detection of congenital disorders and improvement of infant mortality rates. Although steady progress has been made, screening is not yet available to most of the 26 million babies born yearly in India. PerkinElmer is committed to helping chart a course that will change this. Following global trends in neonatal screening, India has been training physicians to screen for physical birth defects, and many states within India are now launching similar pilot programs of their own. Biochemical testing for inborn error of metabolism (IEMs) is anticipated to follow with rising local awareness on the importance of improving child health outcomes. A major challenge is to recognize that newborn screening is not merely a test, but a whole system of sample collection, quality control, training, treatments, and therapies. PerkinElmer has been supplying pediatricians and hospital staff in India with maternal fetal health and NBS solutions since 2009. In an ETHealthworld interview, Linh Hoang, vice president of Neonatal Screening Diagnostics at PerkinElmer, provides a glimpse into how the company’s vision for India is currently unfolding.
We would like to recognize the Hospital Nacional Docente Madre Niño San Bartolome as the first newborn screening laboratory in Lima, Peru to join laboratories world-wide using AutoDELFIA® analyzers to screen for TSH and 17 OHP. This laboratory also expects to be the first lab in Peru to meet the government mandate to screen all newborns for Cystic Fibrosis using the IRT assay. Congratulations to Dr. Bindels and her team for making this happen.
The World Health Organization has recently issued directives for countries in sub-Saharan Africa to develop newborn screening, and to establish care and treatment programs, but most countries lack training and expertise. Over the past four years, Dr. Russell Ware has worked with teams in Angola and Uganda to develop pilot newborn screening programs for SCD.
Visit ZB Foundation homepage » Zahra Beau Naqvi, was born with a metabolic, incurable disease that left her in intensive care, fighting for her life. Zahra could have beaten the disease and gone on to live a normal, healthy life if doctors had performed just one simple ‘heel prick’ test to identify the disorder. From this painful experience came the birth of the ZB Foundation, set up by her parents to give other babies the chance that Zahra never had.
The NBS Program in the Philippines started out as a pilot project involving 24 hospitals in the country’s capital region. It took some time for the newborn screening program to be successfully integrated into the national health program through the Philippine Newborn Screening Act of 2004. Almost two decades after the pilot project, the program was deemed ready for the expansion from screening for six disorders to screening for more than 20 disorders. The presentation from Dr. Melanie presents the challenges of implementing an expanded newborn screening program in a developing country like the Philippines and the conditions identified in the first phases of offering the service.
In India, the number of cases related to rare diseases is plenty, still we they don’t have the all important newborn screening program implemented. In an e-Doctor exclusive feature from the 1st International conference on Rare Diseases, Dr. Bradford L. Therrell, Director, National Newborn Screening and Global Resource Center, Austin, Texas, USA, and Dr. Carmencita M. David-Padilla, Chancellor, University of the Philippines, Manila; Executive Director, Philippine Genome Center, dwell upon the need to implement new born screening programs and what role Pediatricians can play.