Skip to main content

How can you help?

Do you know someone who has never heard of Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) before?
Start talking about PBD-ZSD. Share Ethan's story with them. Read about PBD-ZSD and help us let the world know about these rare disorders.

Do you have the financial means to donate to the cause?
Whether it is $5 or $5,000 any donation is appreciated. You can donate online at www.thegfpd.org or if you would like to sponsor a fundraiser for the Global Foundation for Peroxisomal Disorders (GFPD) contact melissa@thegfpd.org and let her know your idea (jewelry party, walk-a-thon, bake sale, auction, etc.)

Are you able to send an email or a letter in the mail?
If so, contact your local, state and federal legislatures and let them know that it is important to support kids with special needs and their families. Let them know how crucial Early Intervention services are to kids 0-3 and how important special education programs are to school aged children. Tell them how important it is for children with disabilities to have access to health care!

Are you pregnant or know someone who is?
If you are pregnant or know someone who is and you/they aren't planning on banking the child's umbilical cord for their own family, please don't let it be thrown away! Donate it - it is FREE, ETHICAL, and COULD SAVE A LIFE! Who knows, this type of medical technology might someday be a means for a cure for genetic diseases, like the one Ethan has!
Visit http://www.marrow.org/HELP/Donate_Cord_Blood_Share_Life/index.html to learn more!

 Are you considering starting a family or adding to your family?
If so, you may want to consider taking a simple saliva test that would test you and your partner's carrier status for over a hundred different diseases. The test by Counsyl could let you know if you and your partner are at risk for having a child with a rare disease. We had never heard of this before we had Ethan, but if we had done this, we would have found out that Jeff was a carrier for the G843D mutation. The test can't test everything and my mutation is more rare and wouldn't have been identified, but at least we would have had a heads up, etc. You can learn more about carrier screening at www.counsyl.com. 

Popular posts from this blog

"God Chooses Mom for Disabled Child" by Erma Bombeck

I don't think this is exactly how it works, but I had to share anyway. I believe with all my heart that God does not make mistakes, and although I will fully admit that it hurts my heart that any child is born (or develops) disabilities and/or life threatening illness, I know that God is sovereign and that He has a divine plan (even when we don't understand it!). I believe that God brought Jeff and I together and that He knew Ethan even as he was growing inside of me. While this is not the journey we would have dreamed of or chosen, and there are going to be times (and have been already) when we struggle, stumble and fall  it is our hope that in the end that we will bring glory and honor to the Lord.  God Chooses Mom for Disabled Child Written by Erma Bombeck Published in the Today Newspaper Sept. 4th, 1993 Most women become mothers by accident, some by choice, a few by social pressures, and a couple by habit. This year, nearly 100,000 women will become mothe...
Post a Comment
Read more

Faces of Peroxisomal Biogenesis Disorders

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. Here are just a few of the faces of PBD. 
1 comment
Read more

Here we go again!

Yesterday, our family got to take another trip to the ER. Just a little after 7am, after I had fed Ethan breakfast and gave him his morning medications, he and I came into the living room to play before we had to get ready to leave for school. Ethan had 5 seizures, each lasting 10 to 15 seconds, back to back. Jeff had not yet left for work so I had him get the Diazepam, Ethan's rescue medication, and we gave it to him. The Diazepam is supposed to stop the cluster seizures, but it didn't. The seizures continued and didn't show any signs of stopping so the three of us packed up and headed off to the ER. By the time we arrived at the ER the drowsiness that is a side effect of the Diazepam was very evident, and although Ethan wasn't sleeping, he was definitely out of it. He had another small seizure shortly after we got to the hospital while we were being checked in. Once again his vitals were monitored and blood taken. The doctor spoke on the phone with our neurologist...
Post a Comment
Read more