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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Ethan's new stander
Months and months ago Ethan's PT ordered a stander for Ethan. A stander is a piece of medical equipment that is designed to assist a child or adult in standing. For Ethan, the hope is that the stander will allow Ethan the opportunity to bear more weight through his legs, thus strengthening his muscles so that he will be able to stand independently and someday walk.
Ethan stayed in it for ten minutes tonight, with us entertaining him the whole time, of course. :) He will eventually work up to being in it for 20 to 30 minutes at a time, at least two times a day. It will take us a while, but other moms with little ones who have needed standers said that they have really helped strengthen their legs. Ethan can stand at the couch for a few minutes, but he needs more weight bearing to help not only his muscles but also his bones.
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…