Public Health Committee
JOINT FAVORABLE REPORT
AN ACT REQUIRING NEWBORN SCREENING FOR ADRENOLEUKODYSTROPHY.
SPONSORS OF BILL:
The Public Health Committee
REASONS FOR BILL:
To require that newborns be screened for adrenoleukodystrophy (ALD)
RESPONSE FROM ADMINISTRATION/AGENCY:
Dr. Jewel Mullen, Commissioner, Department of Public Health: Opposes the passage of SB 465. The incidence of adrenoleukodystrophy (ALD) is approximately 1/17,000 births, predominately affecting boys. The disease manifests in three forms: a cerebral form affecting children between the ages of four to eight, affecting men in their twenties, and adrenal gland failure. Other than treatment of adrenal gland failure with steroids, treatment for the other forms of ALD is still experimental.
October 2012, the secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children indicated that they would not nominate ALD for external review because there was not sufficient data to support inclusion on the recommended Newborn Screening (NBS) panel. They also noted that the Mayo Clinic is undergoing a pilot study testing for ALD which should be completed at the end of 2013.
There are no public health laboratories that screen newborns for ALD and there are no standard methods available for the test. Time will be required for method development and validation to enable routine screening to be implemented by the NBS laboratory. The Laboratory tests all newborns in Connecticut for over 40 disorders on its NBS panel and the addition of another disorder for routine screening would require additional staff, equipment and supplies. These resources are not available in the Governor's proposed budget.
Analysis for ALD presents additional problems with the identification of many individuals and could prove problematic for treatment and follow-up at the level of the overseeing physician.
Representative Roland Lemar: Supports this legislation requiring pre-screening for adrenoleukodystrophy (ALD) as a life-saving measure that would also be cost effective. One diagnostic test costs only $1.50.
Representative Lonnie Reed: Submitted testimony in support of SB 465 told the story of a family in Branford whose son, Brian, has adrenoleukodystrophy (ALD) but was not diagnosed until he was six years old. ALD is a gene-linked, inherited, deteriorating condition that can lead to total incapacitation and early death. It is a condition that can now be detected and often controlled with interventional therapies if newborns are screened for ALD.
The Branford School system was asked tally up the additional cost to educate Brian given his disabilities. Some of the line items include special transportation costs of $46,000 per year; special computer hardware/software and Assistive Technology Evaluation that came to $35,000 for Brian's twelve years in school. The grand total came to almost $1 million dollars. The human costs and the societal costs could have perhaps all been prevented if there had been the automatic testing of newborns for ALD.
Representative Vincent Candelora: Screening of newborns has saved or improved the lives of more than 12,000 children. SB 465 calls for the pre-screening of ALD in newborns. Pre-screening for this disease not only is most effective in saving the life of a child, but is also cost effective. Newborn screening allows babies with ALD to be identified and treated before they display symptoms.
NATURE AND SOURCES OF SUPPORT:
Amber Salzman, PhD: Supports SB 465 and the newborn screening for adrenoleukodystrophy (ALD). ALD has an adrenal gland component that occurs in 90% of males affected and a neurological presentation where 35% of boys will develop an inflammatory demyelinating condition. The ALD clinical disease progresses rapidly but the MRI abnormalities precede disease onset by months. The only treatment for cerebral disease is allogeneic bone marrow transplant. This therapy can arrest the progressive demylination, but offers no benefit when the disease is well-advanced. To be effective, a bone marrow transplant must be performed when there are early changes in the MRI, but prior to neurological findings.
It is critical to identify pre-symptomatic individuals. Newborn screening of dried blood spots is a near universal method of testing individuals and allows the diagnosis of a wide variety of genetic disorders. A newborn screen for ALD has been developed and piloted and over 50,000 newborn dried blood spot samples have been screened to validate the test.
Dr. Joanne Kurtzberg, Pediatric Blood and Marrow Transplant Program: Supports SB 465. The majority of pediatric patients who die from the disease have the cerebral form presenting in mid to late childhood. Newborn screening for adrenoleukodystrophy (ALD) would identify children before they manifested symptoms enabling them to have access to curative therapy hematopoietic stem cell transplantation.
Another important reason to identify children with newborn screening testing is because some will present with life-threatening problems due to adrenal crises which are secondary to adrenal insufficiency which occurs in babies and children with ALD.
Ann B. Moser, Research Associate, Kennedy Krieger Institute and Department of Neurology at Johns Hopkins Medical School: Provided testimony in support of SB 465. Since 1990's, bone marrow transplantation has shown to be effective in stopping the central nervous demylelination if done at the first signs of progressive brain dysfunction. By 2010 several hundred adrenoleukodystrophy (ALD) boys have benefitted from bone marrow and umbilical cord cell transplantation.
Prior to 2009, a test was devised to test for ALD using the newborn dried blood spot. It was determined that the C26 content of the lyso phosphatidylcholines (lyso PC) was 5 to 10 fold higher in whole venous blood spots from ALD patients when compared with controls. The ALD newborn dried blood spot had a 5 to 15 fold increase with no overlap when compared with 500 anonymous newborn dried blood spots. Recently, in conjunction with the MD State Newborn Screening Lab, we have completed the screening of 5000 newborns (consent given) in 3 local Baltimore hospitals and did not find one positive which leads to the conclusion that the false positive rate will be low.
Elizabeth and Lee Florian: Provided testimony in support of SB 465. Their son, Joshua, was born six years ago. At age 2, he woke up one evening asking for a drink of water, after which he collapsed, and within hours the decision was made to take him off life support. It was only after his death that it was discovered that their son had a rare presentation of Addison's renal insufficiency caused by adrenoleukodystrophy (ALD). According to Dr. Raymond the world expert on ALD, newborn screening would have given the early diagnosis needed to save their son's life. Now, their family lives with the fact that Joshua could have been protected by the knowledge that comes from the simple newborn screening test that costs $1.50.
Lydia Giordano: Supports the passage of SB 465. She shared her personal story of her son who was diagnosed when he was six years old. Within a couple of months her son, Steve, was confined to a wheelchair, lost his ability to speak and went blind. She took her son to Duke in hopes of her son getting a transplant but was told he was not a candidate. This disease was debilitating for Steve but also created stress for the entire family. She lost her house since she gave up her job to care for her son and Steve's father died of a heart attack at the age of 43. A simple newborn screening would have changed her family's life.
Jean and John Kelly, Brian's Hope: Supports newborn screening for adrenoleukodystrophy (ALD). ALD is a life threatening disorder that often causes adrenal gland failure as well as neurological dysfunction, affecting the brain and/or spinal cord.
They shared their son, Brian's story and how at the age of six, he was diagnosed with ALD. Within six months of his diagnosis, Brian lost his mobility, speech, ability to eat and most of his vision. Had his condition been diagnosed at birth, early intervention would likely have changed the outcome.
Early detection is crucial. The missed diagnosis of newborns with ALD, will result in the needless suffering and loss of lives. Physicians, hospital administrators, and advocates understand that early detection of newborn diseases and disorders saves lives and dramatically reduces health care costs and burdens associated with deferred diagnosis. Newborn screening for ALD is a simple and cost-effective solution to these problems.
We believe that this testing should become a standard of care for all newborns, prior to discharge from the hospital.
NATURE AND SOURCES OF OPPOSITION:
Reported by: Lori Littmann