new parents

Jill Wood's Testimony

Statement of Jill Wood
Senate HELP Committee, Subcommittee on Children and Families
June 14, 2002

Thank you, Mr. Chairman, for inviting me to speak today. I am Jill Wood of Fairfax, Virginia. I am a mother who volunteers for the local March of Dimes Chapter. I appreciate the opportunity to testify today about my daughter, Hayley, and the importance of newborn screening immediately after birth.

When my husband and I became pregnant with Hayley, we expected to have a healthy happy baby. And, we did. However, our daughter died unexpectedly in her sleep, on our first night home, three days after her healthy hospital delivery. The autopsy found that she had extra fat from an undiagnosed metabolic birth defect that was not tested for in Virginia. On subsequent tests done at our personal expense, it was revealed that Hayley died of a disorder called CPT-II.

Carnitine Palitoyl Transferase Deficiency Type II (CPT-II). CPT-II is a disorder in which the body cannot oxidize fatty acids. The disorder that killed our daughter was genetically passed on so proper identification and screening was critical if we were going to consider having children in the future.

My husband, Marshall, and I converted our pain and loss into action. We found that in Virginia newborns were tested for only 8 diseases. We joined the March of Dimes in their advocacy work to get the State of Virginia to agree to test for more disorders. The March of Dimes recommends that every baby, no matter where he or she is born, receive screening for at least a "core" set of ten disorders. I won't read the names of the disorders, but have attached the list to my statement.

In February 2001, we headed to Richmond for the March of Dimes Lobby Day to talk to our legislators about expanding Virginia's newborn screening program. Prior to Lobby Day, Senator Patsy Ticer, our state senator, had introduced a Senate bill (SB 1007) to add another metabolic screening test to the list of newborn screens required for all babies born in Virginia. The test would screen newborns for a metabolic birth defect called congenital adrenal hyperplasia or CAH. CAH is when the body lacks an enzyme needed by the adrenal glands (on the top of the kidneys) to make the hormones, cortisol and aldosterone. Cortisol is needed to maintain an adequate energy supply and aldosterone is needed to maintain proper salt and water balance. If it is identified through newborn screening, CAH can be treated by giving the missing hormones to the baby.

The March of Dimes and Senator Ticer gave me the opportunity to be able to share my story and determination with legislators. In other words, we put Hayley's face on the problem we were trying to solve. This bill passed unanimously and was signed into law by Governor Gilmore. Since July 2001, Virginia has been screening for 9 of the 10 tests recommended by the March of Dimes.

This year we worked with the March of Dimes and Senator Ticer again to add that 10th test, MCAD, to the newborn screening list in Virginia. MCAD or medium chain acetyl coenzyme A dehydrogenase deficiency was missing from the screening tests in Virginia. Twenty percent of babies born with MCAD die suddenly. Many cases are confused with sudden infant death syndrome (SIDS). Actually, before we had a diagnosis on Hayley's birth defect we were seeking counseling from SIDS MA. So you can see why we think adding this test is so important. Families need answers in order to make decisions on future pregnancies.

Again, I joined the March of Dimes volunteers in Richmond, talked to legislators and told my story. Again, the legislature passed the bill with a unanimous vote. However, before it can be implemented, the state needs to find the necessary funds to start the new screening tests. In order to test for MCAD, special equipment called a tandem mass spectrometer is needed. Each spectrometer costs about $350,000 and the state needs two to serve the 95,000 birth (about 6,000 tests/day) in Virginia each year. I sincerely hope that you will help states expand their programs by providing them with the necessary financial assistance. The time to find out about newborn screening is not at your baby's funeral.

I want to mention that this year, all of us went to Richmond to lobby for the MCAD bill. Our new baby girl, Grace, was born in August 2001. As you can imagine, we had extensive newborn screening done on her before we took her home. Again, we paid for the tests ourselves.

We will continue to work with the March of Dimes so that in the future, the Commonwealth of Virginia will be testing for 25-30 tests during a routine newborn screening. We do this for all the babies who will be born in Virginia. We do not want any family to go through a loss like ours.

Thank you very much for holding this important hearing. Families like mine, along with March of Dimes volunteers and staff in every state, including Virginia, are available to work with you to improve these critical screening programs.

CORE GROUP OF NEWBORN SCREENING TESTS
RECOMMENDED BY THE MARCH OF DIMES

MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY
Incidence: 1 baby in 15,000
An inherited disorder of fatty-acid metabolism caused by the lack of an enzyme required to convert fat to energy. Seemingly well infants or children can suddenly develop seizures, respiratory failure, cardiac arrest, coma, and death. Identifying affected children before they become ill is vital to preventing a crisis and averting these consequences. Treatment includes steady food or glucose intake and avoidance of fasting.

PHENYLKETONURIA (PKU)
Incidence: 1 baby in 12,000
An inability to properly process the essential amino acid phenylalanine, which then accumulates and damages the brain. PKU can result in severe mental retardation unless detected soon after birth and treated with a special formula. Affected individuals must be kept on a low phenylalanine diet at least throughout childhood, adolescence, and for females, during pregnancy.

CONGENITAL HYPOTHYROIDISM
Incidence: 1 baby in 4,000
A thyroid hormone deficiency that severely retards both growth and brain development. If detected soon after birth, the condition can be treated with oral doses of thyroid hormone to permit normal development.

CONGENITAL ADRENAL HYPERPLASIA (CAH)
Incidence: 1 baby in 5,000
CAH refers to a set of inherited disorders resulting from defects in the synthesis of hormones produced by the adrenal gland. Certain severe forms of CAH cause life-threatening salt loss from the body if undetected and untreated. Treatment includes salt replacement and hormone replacement.

BIOTINIDASE DEFICIENCY
Incidence: 1 baby in 70,000
Biotinidase is the enzyme that recycles biotin, a crucial B vitamin. Biotinidase deficiency may cause serious complications, including frequent infections, uncoordinated movement, hearing loss, seizures, and mental retardation. Undiagnosed and untreated, the deficiency can lead to coma and death. If the condition is detected soon after birth, these problems can be prevented simply by giving the baby extra biotin.

MAPLE SYRUP URINE DISEASE
Incidence: 1 baby in 250,000
A rare inborn error of metabolism that is lethal if unrecognized and untreated. There is a wide spectrum of this condition from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. It is unusual for severely affected babies to survive the first month, and those who do usually have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and mental development. Therapy consists of a special diet that requires frequent monitoring and must be continued indefinitely.

GALACTOSEMIA
Incidence: 1 baby in 50,000
Affected babies are missing the liver enzyme needed to convert galactose, a major sugar found in milk, into glucose, another simple sugar that the body can use. Galactose then accumulates in and damages the vital organs, leading to blindness, severe mental retardation, infection, and death. Milk and other dairy products must be eliminated from the baby's diet.

HOMOCYSTINURIA
Incidence: 1 baby in 275,000
A rare deficiency in the enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed by the brain for normal development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, which for many patients includes high doses of vitamin B6 or B12, although treatment is not completely effective.

SICKLE CELL ANEMIA
Incidence: 1 baby in 400 among African-Americans; 1 baby in 1,000 to 30,000 among Hispanics (depending on the region of the United States); less common among babies with other ethnic backgrounds

A blood disease that can cause severe pain, damage to the vital organs, stroke, and sometimes death in childhood. Young children with sickle cell anemia are especially prone to dangerous bacterial infections such as pneumonia and meningitis. Vigilant medical care and treatment with penicillin, beginning in infancy, can dramatically reduce the risk of these adverse effects and the deaths that result from them.

January 2002

Jill Fredricks Wood
Jill Fredricks Wood is a native Washingtonian. She graduated from McLean High School in McLean, VA and she holds a bachelors degree in Management Information Systems from James Madison University. She is married to husband, Marshall, and they have 2 children, Hayley (deceased) and Grace. Mrs. Wood works at the Pentagon for the Office of the Secretary of Defense as an Information Technology manager. She serves on the Board of Directors for the Sudden Infant Death (SIDS) Alliance of the Mid Atlantic. Mrs. Wood also serves on the Board of Directors for Fairfax County's Pets On Wheels Program. She and her dog are active volunteers providing animal assisted therapy to improve the quality of life for nursing home residents. The Wood's healthy 3-day-old baby, Hayley, died suddenly and without warning in June 2000. Her cause of death was due to a metabolic disorder, CPT-II, not screened for in the state of Virginia. Currently, Mrs. Wood is working with the SIDS Alliance and the March of Dimes (MOD) to change the newborn screening laws in Virginia.