Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.
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Brooklyn family fights to pass ‘Aidan’s Law’ which would require screening newborns for rare brain disorder ALD
News out of NY today regarding the ALD newborn screening that would also identify children born with PBD-ZSD and another related peroxisomal disorder, D-Bifunctional Protein Deficiency (DBPD). This newborn screening is needed in every state across the country. It can save the lives of hundreds of children with ALD and also allow for families of children with PBD-ZSD or DBPD have a correct diagnosis without having to search for months or even years to find out the cause of their child's medical issues and developmental delays, and allow them to seek proper medical care and interventions for their child. This screening would also allow parents of children with ALD, PBD-ZSD, and DBPD make informed decisions about the risks and options for future family building.
This Saturday we are hosting the first annual Pancakes for PBD benefit. All the proceeds will go to the Global Foundation for Peroxisomal Disorders to help offset the costs for our family and others like us to attend this summer's 2012 Family Support Conference in Orlando, FL.
We hope that this will become an annual tradition and allow us to help raise awareness and money for peroxisomal biogenesis disorders.
October 5th is a special day for our family as we celebrate #PauseForPBD, the annual awareness day for The Global Foundation for Peroxisomal Disorders (GFPD). [Jeff's birthday also happens to be October 5th but he doesn't seem to mind sharing it with #PauseForPBD day.] Our son, Ethan, is 7 years old and is one of less than 200 children, known to the GFPD, living worldwide with Peroxisome Biogenesis Disorder (PBD). Ethan has a contagious smile and laugh, despite the fact that PBD has caused him to have severe cognitive and physical delays. Peroxisome Biogenesis Disorder (also known as Zellweger Spectrum Disorder), is a rare, genetic condition affecting multiple organ systems in the the body. PBD is generally fatal in childhood. As a parent, it is difficult to express the sense of loneliness and feelings of isolation that enter your life when your child has a rare genetic disease that most people have never heard or and has no cure. However, #PauseForPBD, is a day that brings o…
As a parent of a child affected by PBD-ZSD it is hard to adequately describe how much it means to know that there is growing interest in finding treatment for rare diseases.
In addition to the scientific portion of the conference was a separate conference designed specifically for families. More than 40 families from the US, Canada, and the Netherlands came together in the largest GFPD Family Conference to date. Check out the welcome video below.
Jen Kerckhoff, a fellow GFPD Board of Directors member, wrote a wonderful article about her experience which you can read on the TulsaKids blog. Jen is one of just two members of the Board of Directors who is not a parent of a child who has been di…