Parents Win Victory in Newborn Screening for Rare Disease ALD

While cliché, it is still true that children are the future. That is why it is so important that we find ways to protect them where we can and prepare them where we can’t protect them. While some attempts to protect and prepare children for the real world are controversial, one thing that shouldn’t be debated is newborn screenings for rare and potentially deadly diseases.

A year ago next month, California’s state government passed legislation to add another rare disease, adrenoleukodystrophy (ALD), to their list of diseases to be screened for at birth.

Adrenoleukodystrophy is a rare, genetic disease that most severely affects males. It causes the protective layer around nerve cells to be damaged or completely destroyed. The disease can manifest itself in many ways, therefore causing difficulty diagnosing and further damaging the nervous system. Though there is no cure for ALD, there are treatments that can slow or arrest progression.

Because of the difficulties of diagnosing, parents of children who have died from this disease have pushed for its inclusion in the standard list of diseases tested for at birth.

According to The Sacramento Bee, doctors involved in the writing and implementation of California’s revamped newborn testing believe that they will find between 25 and 30 cases in 2017.

There is a cost to adding adrenoleukodystrophy to the screened diseases. California has chosen to cover the cost using state funds. Every state in the U.S. has some newborn screening list of some kind. Other states have dealt with the cost of performing these tests in a variety of ways. The potential for saving a child’s life should outweigh the financial costs that seem to be preventing other states from implementing similar screenings for certain rare diseases.

Twenty-five years ago, adrenoleukodystrophy became the focus of some controversy because of the film Lorenzo’s Oil.

The parents of a child afflicted by this disease sought a treatment plan outside the realms of the western medical establishment. The oil treatment has shown limited success with affecting the disease; however, efforts to recreate these results have fallen short of FDA requirements for approval.

Read more from the California newspaper article by clicking here.

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