Hi. My name is Pamela Marshall. I live in IL and our 2 year old son, Ethan, has a peroxisomal biogeneis disorder - zellweger spectrum disorder (PBD-ZSD), which is a related peroxisomal disorder to X-ALD.
The newborn screening that has been developed for identifying X-ALD will also identify children with PBD-ZSD and another related disorder called D-Bifunctional Protein Deficiency (DBPD).
I am working with Bryce LaBorde, an ALD parent from IL, to raise awareness of ALD and other peroxisomal disorders. Bryce is leading the campaign to bring the ALD newborn screening to IL. We are trying to connect with as many families living in IL as possible. We even have started a website and Facebook group just for IL families for this purpose.
If you are an IL family impacted by ALD/AMN please let us know. Thanks!