GFPD Fall 2013 E-Newsletter

GFPD NEWS IN BRIEF
 
  • GFPD supporters celebrated World Rare Disease Day 2014 with pictures of themselves sporting “Jeans for Genes” and GFPD t-shirts. World Rare Disease Day is an international day of advocacy for people affected by rare disease. With more than 7,000 recognized rare diseases, families affected by peroxisomal disorders are a part of a much larger community seeking improved awareness and medical supports. See pictures of our GFPD supporters celebrating Rare Disease Day here.
 
  • The Global Foundation for Peroxisomal Disorders has joined with the Global Genes Project in their RARE Foundation Alliance. The Alliance was formed in 2013 to “build a stronger collective impact in the rare disease community by uniting rare disease foundations in a shared commitment to advocacy.” The GFPD joins more than 135 other rare disease foundation members in this effort. Read about the RARE Foundation Alliance on the Global Genes Project website here.
 
  • GFPD welcomes four new members to our Medical and Research Advisory Board. Board members contribute to the GFPD cause by sharing their expertise in their unique fields, as well developing research and trial opportunities for the GFPD community. Visit our website for a complete list of current Medical and Research Advisory Board members.


GFPD FAMILY SPOTLIGHT
 

Get to Know More About 2014 Ilan-a-Thon Honoree Livi Menard
by Jennifer Hazard
 
Recently, I had the privilege of interviewing Jen Menard, mother to this year’s Ilan-a-thon honoree, 3-year old Livi Menard. As a mother of two, and godmother to a 19-month old nephew with PBD myself, Jen’s thoughtful answers meant a great deal to me. I’m inspired by her honesty, and her gentle way of “spreading the Livi love around.”
 
How did Livi become this year’s honoree?
Mousumi Bose, Ilan’s mom, asked if Livi would like to be the honoree while we were attending the GFPD Family & Scientific conference in Nebraska last year.
 
What does the honor mean to your family?
I think having Livi and other PBD kids at the race helps participants see what their contribution means. It’s also so rewarding to see everyone come out to the race and show their support. 
 
Livi is 3-years old. What have you learned about PBD along the way?
The most helpful piece of information I have learned through our journey is PBD kids do not fit a mold. We’ve tried hard to ignore timelines and prognoses. 
 
How did/do you manage the weight of her diagnosis?
When we were told Livi was a Zellweger baby, we basically prepared for her death… and then we waited. Some days I still feel like I’m waiting. Not to say that our family hasn’t lived our days with Livi to the fullest, because we have, but her diagnosis is always a shadow hanging over us. Any strange movement could be the beginning of her first seizure. Or her sneezing this morning could turn into pneumonia that will ultimately take her from us. It’s an exhausting way to live, but we try our best to keep things as normal as possible. 


 
How did you explain Livi’s diagnosis to her older sister Lila?
We’ve been pretty honest with her. It’s been gradual, since Lila was only three and a half when Livi was born. She’s always known Livi was sick. That was blatantly obvious since Lila’s best friend has a little sister who is Livi’s age. Lila noticed the differences (blindness was a big one, plus the constant doctor visits). So when Lila asked about these things, we explained that Livi might not grow up. For a long time, she thought that meant Livi would be a baby forever.
 
Then one day, completely out of the blue, Lila (who is now six-years old) asked if Livi was going to die. I think along with listening to Chad and I talk, she worked it out in her head. Lila knows that we can’t predict the future, but Livi's illness makes it likely that her life will be shorter than ours. It’s a hard concept, and sometimes she asks crazy questions, but we try really hard to listen and answer all of them. And I don't hide my feelings.  I almost always cry when we talk about it, but the reality is sad, and I want her to know that’s okay.


 
Is the idea of creating normalcy what led to sending Livi to preschool?
Yes. She goes to school three mornings a week and really seems to enjoy it. Her classmates and teachers love her. She receives 5 different therapies while at school, but she also gets to participate in fun activities like circle time, music and crafts. She is also consistently using the “more” sign, which is awesome! 
 
Her time at school has definitely been a transition for me, but it feels good to be spreading the Livi love around, and also creating awareness about the disorder. 
 
How did you find a school that was right for Livi?
We are lucky because our county offers a preschool program to bridge the gap between the end of early intervention and the start of kindergarten. Our local school doesn’t have a preschool, and even though it would be convenient for Livi to be at the same school as Lila, this worked in our favor. The end result was that we were able to pick a school for Livi. Our counselor and Livi’s developmental therapist both knew one particular teacher and couldn’t say enough wonderful things about her. Her teacher is really great and it all worked out so well.
 
What’s her classroom like?
There are 8 other kids in her class between the ages of three and five. Along with her lead teacher, there are two aids. Most of the other kids are higher functioning, but they are so good about including Livi. While at school, Livi has PT and OT, plus vision, hearing, and speech therapy. They try not to have these therapies during circle time because she really enjoys it.
 
Many thanks to Jen Menard for sharing! If you’d like us to highlight your family’s PBD story, email Heidi Harris, Communications Coordinator at heidi@gfpd.org. For more information about the June 8 Ilan-a-thon, a 5K fun run benefiting children with PBD, visit here.
 
 

GFPD RESEARCH UPDATE
 
Over the past several months, a dozen families across North America have enrolled their children in a clinical trial of Betaine (brand name, Cystadane), which aims to improve clinical outcomes for patients with Peroxisome Biogenesis Disorder—Zellweger Spectrum Disorder (PBD–ZSD). The work is being conducted jointly by an American and a Canadian researcher in a project entitled “A Pilot, Open-Label Trial Assessing the Safety and Efficacy of Betaine in Children with Peroxisome Biogenesis.” Dr. William Rizzo of University of Nebraska Medical Center and Dr. Nancy Braverman of McGill University in Montreal are seeing study participants at their respective institutions for ongoing monitoring. Both researchers were recipients of grant awards for this project from the Global Foundation for Peroxisomal Disorders in 2013.
 
PEX proteins are important for the proper functioning of peroxisomes. In PBD-ZSD patients, the genes that make the PEX proteins are typically mutated. Some mutations cause formation of abnormally folded PEX proteins with an unusual shape, which leads to dramatically reduced peroxisomal function. Drugs that improve protein folding could theoretically be useful for restoring peroxisomal function. Betaine is FDA approved to treat homocystinuria—a metabolic disorder that is otherwise unrelated to PBD-ZSD. Recent studies have suggested that Betaine may act as a "chemical chaperone" to help the PEX1 protein fold properly. In research studies using fibroblast cells from patients with the common PEX1-G843D mutation, Dr. Braverman found that Betaine caused improved PEX folding and rescued some peroxisomal function. 
 
Based on this information, researchers hope that treatment with Betaine will improve peroxisomal function in certain PBD-ZSD patients, who have the common PEX1-G843D mutation. This relatively short 6-month clinical trial will determine whether patients show a biochemical improvement in the storage of very long chain fatty acids (VLCFAs) and in plasmalogen synthesis, as both are biomarkers of peroxisomal function. Given the variety of manifestations of the disease, even with the same mutations, the response to Betaine may vary from one person to another. However, if Betaine works to improve peroxisome function in this clinical trial, longer studies looking at the clinical response to Betaine would be justified.
 
Dr. William Rizzo gave a presentation about the project at the GFPD 2013 Scientific Conference. View slides and video of that presentation for more information.
 
Parents choose to enroll their children in clinical studies for a variety of reasons. Two parents of enrolled children shared with us their reasons for participating, and what they hope will be accomplished.
 
Vicky Maag, mother of 5 year old Kenna, shared her reasons:
 
"I chose to include Kenna in the Betaine study because I think it is an amazing opportunity.  HOPE is the word for this trial.  It gives our family hope!  Hope that we might help other families that get the devastating news in the future.  Hope for grandparents and aunts and uncles who feel helpless that someone they love is suffering with this nasty disorder.  Hope for other GFPD families that are looking at us to offer some good news at the next family conference.  Hope for our loyal doctors that they are working in the right direction."
 
Katie Sacra, mother of 13 year old TJ, shared:
 
"We agreed for our son to be a part of the Betaine study because we feel strongly that this research is critical for the future generations that will be impacted by PBDs. […] I hope every parent of a child with PBD knows that we enrolled our son in this study for him, for them and for every single child who has been and will be diagnosed with a PBD. We are so grateful to those who support the GFPD. This is one of many examples that supporting the GFPD directly impacts families."
 
 
Our best wishes are with the patients and families participating in this trial, and with the researchers working to improve the lives of children and adults with PBD-ZSD.
 

The GFPD family mourns the recent loss of the following children due to the devastating effects of PBD-ZSD:

Joao Pedro Pinto, April 4, 2013 – October 1, 2013 (Portugal)
Christian Hegwood, March 28, 2013 – November 13, 2013 (Mississippi, USA)
Fritzi Dausch, December 11, 2012 – December 4, 2013 (Germany)
Reese Black, November 21, 2013 – December 5, 2013 (Minnesota, USA)
Hayden Kiteley, March 10, 2009 – December 20, 2013 (Washington, USA)
Aria Calvo, August 15, 2013 – December 27, 2013 (California, USA)
Justin Montesclaros, September 3, 2012 – April 1, 2014 (Oklahoma, USA)
Dillon Hobbs, March 20, 2014 – April 22, 2014 (New Hampshire, USA)

Olivia Frank, July 31, 2006 – May 23, 2014 (West Virginia, USA)
Chloe Carlson, April 20, 2007 – May 11, 2014 (Texas, USA)
Board of Directors
 
President
Shannon Butalla
shannon@thegfpd.org
 
Vice President
Anne Park Hopkins
annepark@thegfpd.org
 
Treasurer
Melissa Bryce Gamble
melissa@thegfpd.org
 
Secretary
Geoff Edgar
geoff@thegfpd.org
 
Medical/Scientific Liaison
Mousumi Bose
mousumi@thegfpd.org
 
Registry & Support Group Coordinator
Pamela Marshall
registry@thegfpd.org
 
Communications Coordinator
Heidi Harris
heidi@thegfpd.org
 
Woody Woodbury
woody@thegfpd.org
The GFPD is grateful for the input and guidance of our Medical and Scientific Advisory Board. For a complete list of members, please visit http://www.thegfpd.org/for-doctors/medical-scientific-advisory-board.

Upcoming Events

Ilan-a-thon
Baltimore, MD
June 8, 2014
ilanathon.org
Contact: Mousumi Bose: mousumi@thegfpd.org



Plan a Fundraising Event in Your Community

Please contact Shannon Butalla at shannon@thegfpd.org for more info.
Stay Connected

We have a great online community. If you haven't connected yet, check us out:


GFPD Parent Support (Parents & Guardians only)
PBD Dads: A Band of Brothers (Dads only)
GFPD Shutterfly Site (Parents & Guardians only)
GFPD Extended Family Support
GFPD “Public” Facebook Page
GFPD website
 
If your contact information has changed, please email Pamela Marshall at registry@thegfpd.org so we can update our records.

SUPPORT GFPD


GFPD is a 501 (c)(3) tax exempt public charity incorporated in the state of Oklahoma. By investing in GFPD, you are supporting children and families facing Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) and assisting family members and professionals through educational programs, research, and support services.
 
All contributions to GFPD are tax-deductible (USA) in the year paid. Donations are accepted by mail or online at www.thegfpd.org.
 
Please mail checks to:
Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue, Suite 181
Tulsa, OK 74135





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