MDHHS adds X-linked Adrenoleukodystrophy and Adenosine Deaminase Deficiency to newborn screening panel

FOR IMMEDIATE RELEASE: Oct. 10, 2019

CONTACT: Lynn Sutfin, 517-241-2112

LANSING, Mich. – As of Oct. 7, Michigan babies with X-linked adrenoleukodystrophy
(X-ALD) and severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID) can be diagnosed early thanks to the addition of X-ALD and ADA-SCID to the state’s newborn screening panel.

Newborn screening is a public health program required by Michigan law to identify babies with rare but serious disorders, like X-ALD and ADA-SCID. All babies need to be screened in order to find the small number who look healthy but have a rare medical condition. Michigan’s newborn screening system provides testing and follow-up for more than 50 conditions.

X-ALD is a rare genetic disorder affecting about 1 in 20,000 individuals. People with X-ALD cannot break down very long chain fatty acids, which are found in the foods we eat and in our body’s fat tissues. These fatty acids build up in the body and cause symptoms affecting the brain, nervous system and adrenal glands. There are usually no symptoms at birth or in infants and toddlers. The condition affects males and females differently. Typically, males have more symptoms, though females can develop mild symptoms as adults. Early diagnosis allows boys to be monitored pre-symptomatically to ensure treatment is initiated at the appropriate time to be most successful.

“After losing my son, Samuel, to ALD in 2011, I sprang into action,” said Rose Ibokette, a Michigan mother. “Even though I knew my son was gone, it became my mission to ensure no child suffers the same fate as Samuel, and that no parent loses a child to this deadly genetic disease ever again. I enlisted the help of legislators to fight for ‘Samuel's Law’ to ensure all newborns in Michigan are screened for ALD. I am very proud of the triumphant legacy Samuel leaves behind which will save the lives of children and bring hope and peace to countless families for years to come.”

ADA-SCID is another rare genetic disorder affecting 1 in 200,000 to 1,000,000 newborns. ADA deficiency damages the immune system and causes severe combined immunodeficiency (SCID). Babies with SCID appear healthy at birth, but if the disorder is not detected, infants can become sick quickly when exposed to common infections. SCID causes critically low levels of the white blood cells which protect the body from infection. For infants with SCID, even mild illnesses can become serious. Untreated infants rarely live beyond one year.

“By adding these tests to the newborn screening panel, X-ALD and ADA-SCID can now be diagnosed before serious health problems occur, providing the opportunity for the most timely and appropriate treatment in order to achieve the best possible health outcomes,” said Dr. Joneigh Khaldun, chief medical executive and chief deputy for health for MDHHS.

To learn more about X-ALD and SCID, visit babysfirsttest.org.

To learn more about newborn screening in Michigan, contact the MDHHS Newborn Screening Program at 866-673-9939, via email at NewbornScreening@Michigan.gov, or visit Michigan.gov/newbornscreening.

 

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