The ALD-AMN Global Alliance and Newborn Screening Project
While PBD-ZSD and ALD (or X-ALD) are different diseases, they are related peroxisomal disorders that share many similarities. Newborn screening that has been developed to identify boys with X-ALD should also identify children with PBD-ZSD, D-bifunctional protein deficiency (DBPD) and other peroxisomal disorders.
The ALD-AMN Global Alliance is supporting efforts in the United States and the United Kingdom to make this screening a recommended screening for all newborns and they are currently supporting a study led by Dr. Tortorelli at the Mayo Clinic that is collecting data on the effectiveness of the screening/test. However, more Dried Blood Spots (DBS) are needed.
GFPD is encouraging our families to participate. DBS from individuals who have been diagnosed with PBD-ZSD and DBPD in addition to those of known carriers are needed for the study. For more information please visit the ALD-AMN Global Alliance website or contact Dr. Tortorelli at Mayo Clinic directly by phone (507-266-8158) or email firstname.lastname@example.org
Although at this time, treatment for PBD-ZSD and DBPD are symptomatic, an early and correct diagnosis can make a difference for families. Many families wait months and even years before receiving a diagnosis of a PBD-ZSD or DBPD, many receiving multiple incorrect diagnoses along the way. If children are identified at birth, families will not have to undergo months and years of searching for the cause of their child’s delays and health issues. Families will also be able to work with their medical team to be proactive in the treatment and intervention of hearing loss, vision loss, seizures, bleeding issues, adrenal insufficiency and any other symptoms that arise.
Additionally families who have a child who has been identified to have X-ALD, a PBD-ZSD, or DBPD through a newborn screening will also be aware of their carrier status and thus be able to make an informed decision about the risks and options for future family building.
This is an international study and we hope that all of our families will choose to participate.