Newborn Screenings Can Detect Fabry Disease Before the Damage Starts

If you had the opportunity to gaze into a crystal ball and see the future, would you do it? And if you did, and you noticed something amiss, would you act to change the outcome of the future? Let me be more clear: If you knew that your newborn had inherited a genetic disease and early treatment might give your child a better chance to lead a healthier life, would you want to know? Of course you would. And that’s why newborn screening is vitally important.

One of the diseases newborn screening can detect is Fabry disease, a genetic disorder that mainly affects male children because it’s tied to the X chromosome. Males only have one X chromosome, so if there is a mutation along that line of DNA, chances are pretty good that offspring will inherit Fabry. Females have two X chromosomes, so there is less of a chance they will be affected, and if they do test positive for Fabry, their symptoms aren’t as severe.

So what, exactly, is Fabry disease? It’s a lysosomal storage disorder. People with Fabry lack the lysosomes that are needed to break down a specific type of fat molecule, and as a result, over time, patients can suffer severe cardiac and kidney problems as the molecules collect in the body’s cells. Pain is also a prevalent symptom.

This is why early treatment is crucial. The earlier treatment begins, the better outcome can be expected. Of course, life holds no guarantees, but having your child’s healthcare team on board with a treatment plan will certainly benefit your child in the long run–and you don’t need a crystal ball to know that (but it always helps to have one!).

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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