Skip to main content

PBD Research

When we learned about Ethan's diagnosis and that there were no real treatments or cures there aren't really words to describe how we felt.... Now that we are over a year into the PBD world we know that there still isn't any magic treatment, pill or transplant that can save our son and give him a "normal" life... but I have learned that in some ways the experts know a lot more today than they knew about PBD thirty, twenty, even ten years ago.

For example:
  • The old terminology, although it is still widely used, has changed. Ethan's disorder is a spectrum, some kids are affected so severely that there little bodies wear out and are with Jesus by a year old. Some are less severely impacted and live through the toddler years, and those that are the most mildly affected can live into their twenties or even thirties! The disorder was once thought of as three separate diseases - Zellweger Syndrome, NALD, and IRD. Now the researchers know that it is one disorder and it is nearly impossible to say where on the spectrum a child will be, even if you know the mutations that they have. There are two great examples of this in our family support group: one family has a little boy in heaven who passed away when he was just four months old and his little sister who has the same mutations is still alive at 29! The other family has three children with PBD and each of them has been impacted differently.
  • Doctors today have learned from the older children who are still living and those who have already gone to be with the Lord. Because of them most kids today are on Vitamin K supplement, to help with bleeding issues.
  • Today because of newborn hearing screenings in most states, our kids can get fitted for hearing aids when they are just a few months old! There are cochlear implants that can give back the gift of hearing when hearing aids no longer help.
  • Through Early Intervention programs our children have access to the therapies they need to help them reach their fullest potential. Ethan recieves the following therapies: PT, OT, Speech, Hearing, Vision and Dietitian support.
  • There are eye surgeries and eye glasses that can help some kids better utilize what functional vision they have. Oh, I hope that one day Ethan won't hate his glasses!
  • There are medicines to help with seizures and to increase bone density.
  • Wheelchairs, walkers, braces, and canes help our children be as mobile as possible.
  • And due to the dedication of parents, especially my friend Shannon, we have the Global Foundation for Peroxisomal Disorders (GFPD) and other organizations such as ZBSN which are dedicated to our families. THANK YOU!!!
With all that being said, this week we have learned about some new research being done at the University of Alberta. The video below explains the importance of the creation of fruit flies with PBD and how they will be able to use these fly models to test possible medicines that will hopefully someday be used to treat humans. Please keep these researchers and researchers around the world in your thoughts and prayers. I am a firm believer that God often uses modern medicine to work His miracles! (Just think how far cancer treatments have come in the last 30 years!!!!) Please pray that they will use the wisdom and understanding that the Lord has blessed them with to find new treatments and eventually a cure for this horrid disorder.

Comments

  1. What a great post, thanks for sharing. It's encouraging to know that there are people out there working hard researching and trying to find more treatments for this disorder. And I have to say Mr Ethan is so adorable, I hope he is doing great with his AFO's. I love all his pictures, he looks like a very happy boy. Don't get too worried about the glasses, he will grow into them and realize they are helping him. Cole wasn't crazy about his a first, but it finally clicked and he does better. Enjoy your updates. :)
    Leigh

    ReplyDelete

Post a Comment

Popular posts from this blog

So much and so little to write about...

When I started this blog I don't think that I could have imagined a time would come in which months would go by without me writing. However, that is what has happened.

So much has changed over the last almost eight years since Ethan's birth and subsequent diagnosis with PBD-ZSD, yet at the same time so much hasn't. Unlike parents of typically developing children we find ourselves still parenting a child with complex medical needs who's developmental skills range anywhere from 9 to 18 months. Ethan still has PBD-ZSD, and right now his uncontrollable seizures are a major issue. We still fight PBD-ZSD the best we can each day with a basket full of medications and supplements and other medical interventions (feeding tube, cochlear implant, AFOs, etc), numerous therapies, school (which Ethan loves), and prayer. We advocate for him and all children and families impacted by PBD-ZSD and related peroxisomal disorders through our involvement in the Global Foundation for Peroxiso…

#PauseForPBD -- October 5, 2017

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…

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.