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Did you know?

Did you know that in 2009 there were 4,130,665 children born in the USA?

With a prevalence rate for Adrenoleukodystrophy (also known as ALD and/or X-ALD) estimated at 1 in 20,000 that means 206 children were most likely born with ALD that year and PBD (including DBPD) has a prevalence rate estimated at 1 in 50,000 so that means most likely 82 children were born with PBD (and/or DBPD) just that year as well.

Early detection and treatments such as Lorenzo’s Oil, a modified diet, treatment for adrenal inefficiency, bone marrow and/or cord blood transplants can give boys with ALD and their families hope that only a few decades ago was not possible in light of this diagnosis.

Although at this time, treatment for PBD-ZSD and DBPD are symptomatic, an early and correct diagnosis makes 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 were 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 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.

The Global Foundation for Peroxisomal Disorders is proud to show their support for the ALD newborn screening test that would identify ALD, PBD and DBPD! If a movement towards adopting the ALD newborn screening is happening in your state, please consider showing your support. Legislation has already been introduced in New York and New Jersey. To learn more please visit The Stop ALD Foundation website.

Also, if you or anyone you know is thinking of getting pregnant please check out the carrier screening test by Counsyl. The test screens for carrier status of over hundred different genetic disorders. While the test can not  "catch" everything, it can provide very useful information so that a couple can understand their risks and options for family building. Jeff and I had never heard of anything like this. We knew that individuals could get carrier tested for certain disorders if there was a family history, etc. but we had no idea that something this important was widely available. We have encouraged our siblings to be tested prior to starting a family. For my siblings they will also need a separate test to screen for my PEX 1 mutation since it is not common, but I hope that they will also consider a test like the Counsyl test that will also provide them with more information. Jeff and I never thought it could happen to us. We love Ethan so much, please don't think that we don't. That isn't why we are advocating this, but we know that information can be powerful. For us we knew that if we couldn't have children naturally, we would adopt. If we had known before hand that we had a 1 in 4 chance of having a child with PBD, we could have had a discussion about whether or not we wanted to "risk" it or proceed with building our family via adoption.


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