|Ethan swinging at the park - April 1, 2012|
April 3, 2012
Please support children with PBD and their families!
April 3, 2012
Dear Friends and Family,
As you know, our family has dealt with the heartbreak of our son’s diagnosis with a genetic disease, since Ethan was just 28 days old. His condition is called a Peroxisomal Biogenesis Disorder (PBD) in the Zellweger Spectrum of Disorders. As we learned about the disease that we were told our little boy had, we knew that this was going to be a journey that no parents want to be on. PBDs are rare, genetic, metabolic, terminal conditions affecting all major systems of the body. Children with PBDs commonly experience sensorineural hearing loss, vision loss, hypotonia (low muscle tone), seizures, developmental delays, liver and kidney issues, problems with bone formation, feeding issues, and adrenal insufficiency. Approximately half of all children born with PBDs die before their first birthday and very few children live past the age of 10. Right now, the Global Foundation for Peroxisomal Disorders knows of only about 90 children in the world that are living with this devastating disorder.
Last July we were thrilled to celebrate Ethan’s first birthday with family and friends. Despite the many challenges that Ethan faces he continues to be a happy little boy. Over the last year Ethan has made progress – he has recently learned to combat crawl, sign “eat” and “more,” is becoming more tolerant of his hearing aids, and seems to be more aware of the world around him. Ethan has weekly physical therapy, occupational therapy, speech, and hearing services; bi-weekly vision services and monthly dietitian visits from his dedicated therapists. He also began an experimental trial of a medicine called Cystadane in October 2011, with the hope that the medicine will increase the function of his peroxisomes. Ethan will have blood work done in late April to determine if the Cystadane is working. While this would not be a cure to PBD, any new treatments that could improve the quality of life for children with PBD would be a huge breakthrough and blessing. Ethan is currently the only child with PBD who is taking Cystadane, but there is hope for a formal clinical trial to begin by this summer.
Ethan’s disorder has changed our lives in so many ways. It has caused us to really treasure the blessing of each day we have with our little boy. We have also become actively involved in the Global Foundation for Peroxisomal Disorders (GFPD), the non-profit organization dedicated to helping families impacted by PBD. Pamela has even taken on a leadership role in the GFPD as their Family Registry and Support Group Coordinator, and last summer we were able to attend the first annual GFPD Conference in Omaha, Nebraska.
The GFPD has united and empowered families across the world affected by PBDs with a stronger voice in the medical and scientific community to help drive research, treatment, and (we hope) ultimately better outcomes for children affected by this devastating spectrum of disorders. This summer we are once again planning on attending the GFPD Conference, which this year is being held in Orlando, Florida from July 30th to August 2nd. We would not be taking a “vacation” to Florida if it wasn’t for the opportunity to gather with others who understand this disorder, learn about the latest PBD research and have Ethan seen by the top PBD specialists in North America.
We would like you to consider partnering with us by making a contribution to the GFPD that will help our family and other families like us attend this year’s conference. Our estimated cost to attend the conference this summer is $2,500 (which includes conference fees, travel expenses, lodging, and meals). These costs could be even greater for families who have farther to travel. Therefore, we are going to be splitting the funds that we raise -- with half going to help with our expenses and half going to help other families through the GFPD Family Conference Scholarship Fund.
We are hosting “Pancakes for PBD” on Saturday, May 5th from 7am to 11am at our church (First Baptist Church located at 720 W. Main Street in Mt. Zion, IL) to help raise awareness for PBDs and funds for the conference. The cost will be $5 a person. Children under the age of five are free. We hope that you will join us!
If you aren’t able to attend the “Pancakes for PBD” event but would still like to contribute, donations can be made online or by mail. Online donations can be made through the Global Foundation for Peroxisomal Disorders website, www.thegfpd.org, by designating the “Marshall Family Conference Fund” or by mail to:
The Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue, Suite 181
Tulsa, OK 74135
Thank you for your continued thoughts, prayers and support. We are so very blessed to have so many people who love our family.
Jeff, Pamela & Ethan Marshall