UNITED LEUKODYSTROPHY FOUNDATION

LOVE AND SCIENCE 2009

Peroxisome Assembly Disorders Meeting

April 18, 2009

DeKalb, Illinois

Overview of the meeting by Shannon Butalla

The following is about my (Faith Haire) personal experience going to the PBD conference on April

18th:

The days leading up to the conference were very exciting for me and I was surprised

by my feelings of hesitation when I finally arrived.  When our plane landed in

Chicago my emotions about my baby girl Roselyn surfaced.  It had just been 6 months

since she had passed and it still felt like only yesterday . . . especially now that

I was about to come face to face with so many other families who have been affected

by this terrible disease.  I was sad, nervous, excited and relieved to finally be

there, yet I could feel the tears waiting behind my "hello" as I introduced myself

to Paula Brazeal and checked in for the conference.

The morning of the conference, my husband and I took our seats at one of the open

tables.  We were completely unaware that it happened to be the table that all of the

doctors were sitting at.  Needless to say, there wasn't much conversation going on

at our table.  I still wonder what it was like for families who sat together at the

other tables.  Anyway, I was eager to hear what information the doctors had in store

for us and first up was Dr. Nancy Braverman.  Dr. Braverman discussed her work to

increase peroxisome function and if successful, treatment for peroxisomal disorderes

may be available within the next 5-10 years.  Barbara Knoblach further discussed

peroxisome assembly and the use of yeasts to model the peroxisome biogenesis

disorders (PBDs).  She walked us through the formation of peroxisomes and how this

assembly is impaired in the PBDs.

Dr. Raymond discussed his research with docosahexaenoic acid (DHA).  He mentioned

that his study did not show the benefits of decreased VLCFA, increased plasmalogen

levels, improved neurologic and physical development including vision or improved

myelination that he had hoped for.  He said that he did not find any adverse effects

to the increased DHA in blood levels and that DHA is beneficial for other uses.

Please contact Dr. Raymond with any of your questions regarding DHA and dosing.

The day was filled with so much information!  Dr. Steven Steinberg spoke about DNA

diagnostics and the impact on prenatal determination.  Dr. Phyllis Faust discussed

animal models for Zellweger Spectrum Disorders.  Dr. John Niparko discussed cochlear

implants and the benefits for children with progressive hearing loss to get the

implants as soon as possible and Dr. Kenneth Setchell discussed his research with

cholic acid therapy. 

I was truly honored to be present at the conference and I did my best to follow

along as much as I could.  I have to admit, I thought I would have a notebook filled

with notes, but most of the information went right over my head.  I will be mailing

copies of the information packets provided by the speakers tomorrow.  This was a

VERY technical conference and I hope the information outlined in the packets will be

beneficial to you.  I wish there was more time to meet with the other families and

share our personal stories.  My husband and I stayed very late to speak with just a

fraction of the families that attended.  I look forward to future conferences and

the opportunity to meeting meet more amazing families.

Without the support of ZBSN my husband and I would have missed this wonderful

experience.  This trip was also the first time my husband and I have had time away

together since Roselyn passed away.  I again thank everyone from the bottom of my

heart for making it possible for us to attend the conference.

Very truly,

Faith Haire

**Click on cover pages below to download materials presented (PDF files)**

Bile Acid Study by Dr. Setchell

Using Yeasts to Model the PBD's

Non-profit organizational ID: NS012973

Tax ID: 20-3695622

Last updated: July 9, 2009