Progeria to be featured on The Dr. Oz Show

March 4, 2010 - Leave a Response

     Progeria will be the topic of The Dr. Oz Show on Monday, March 8.  The show airs at 5 pm est on the FOX channel in the Boston area.  Check your local listings for details. The Progeria Research Foundation’s Medical Director, Leslie Gordon will be appearing along with Kaylee Halko and her family.  Kaylee is a six year old girl with Progeria.

     Dr. Mehmet Oz previously appeared on the Oprah Winfrey Show and began The Dr. Oz Show in September, 2009.  Oz was Time Magazine’s 44th Most Influentional Scientist and Thinker in 2008.

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Rare Disease Day 2010

March 3, 2010 - Leave a Response

Sunday February 28, 2010 was World Rare Disease Day.  The purpose of the day was to spread the word about the need to research rare diseases.  The National Organization for Rare Disorders headed the third annual event.  NORD’s mission is to identify, treat and cure rare diseases through various programs.

Information about rare diseases is limited; making diagnoses difficult and families often face a lack of research or resources.   Rare diseases often have no cures.  However, there are between 6 and 8 thousand known rare diseases with 75% of these affecting children (rarediseaseday.org).

Congress passed the Orphan Drug Act of 1983 to encourage the development of drugs for rare diseases.  A rare disease is one that affects fewer than 200,000 people in the United States.  Prior to the passage of this Act, private industries were hesitant to invest in treatments because the drugs were expected to be unprofitable.  To find out more about the benefits of this Act you can visit the review by the Department of Health and Human Services.

Finding a treatment or cure for rare diseases often leads to advances in more common diseases and disorders.  Dr. Leslie Gordon, Medical Director for the Progeria Research Foundation said, “Helping children with Progeria, with this rare and fatal disease, also helps us understand the biology of aging in all of us” (Findtheother150.org).

On Rare Disease Day 2010, Boston Children’s Hospital hung a sixty foot chain with the names of 350 rare diseases. Audrey Gordon, President and Executive Director of the Progeria Research Foundation explains why rare disease studies are so important:

Pancake Breakfast in Kentucky

February 26, 2010 - Leave a Response

     The family of Zach Pickard is hosting a Pancake Breakfast  and Silent Auction on March 6, 2010. The event will take place at the Frankfort, Kentucky Applebee’s from 8 to 10 in the morning. Ticket can be purchased at the door for five dollars.
     The Kentucky chapter of the Progeria Research Foundation rose over $100,000 in the past two years.
     Zach has appeared on numerous news shows in Kentucky as well as TLC’s documentary “6 Going On 60.” He is currently enrolled in PRF’s triple drug trial at Children’s Hospital Boston.

**UPDATE**

The following is a photo of Zach with his aunt and uncle at their successful Applebee’s fundraiser:

Photo Courtesy State-Journal.com

Triple Drug Trial

February 26, 2010 - Leave a Response

The Progeria Research Foundation launched their triple drug trial in August, 2009. The goal is for three drugs to complement one another in stopping the production of the abnormal protein progerin which causes Progeria. The three drugs are Pravastatin, Zoledronic acid, and Lonafarnib. The trial will last two and a half years. In the clip below, Audrey Gordon, President and Executive Director of PRF, discusses how this second trial is different from the first:

PRF President and Executive Director Audrey Gordon

February 16, 2010 - Leave a Response

     Audrey Gordon is the President and Executive Director of the Progeria Research Foundation.   Audrey was named one of the 2004 North of Boston Business and Professional Women of the Year.  She is the front runner of countless efforts to fulfill PRF’s mission of finding a treatment and cure for Progeria. I asked Audrey where she got the inspiration to start the foundation:

Progeria Research Foundation Inspiration – Watch more Videos at Vodpod.

Meet Lindsay

February 8, 2010 - One Response

     Lindsay Ratcliffe is a young girl living with Progeria.  This video truly allows you to see how fully Lindsay  is living her life and letting little stand in her way.  At five years old, Lindsay attends school and plays just like other children her age.  Her parents remain hopeful as the community rallies in support.

     Lindsay’s family was interviewed by FOX-2 and appears in this news video from May, 2009.  FOX 2’s Deena Centofanti has more:

Vodpod videos no longer available.
 
 
 
 
 
 
 
 

more about “Lindsay Ratcliffe“, posted with vodpod

 

     Experts do not believe Progeria is hereditary.  In children with Progeria, the cell nucleus is a dramatically different shape (bottom right) than the cell nucleus in healthy individuals (top right) as demonstrated below:

Image from MedicalNewsToday.com

This image gives you a better sense of the science behind Progeria and what causes this genetic condition in 45 children across the globe.

Find the Other 150

February 1, 2010 - Leave a Response

            The Progeria Research Foundation began the ‘Find the Other 150’ Campaign three months ago.  The idea of the campaign is that there are statistically one hundred and fifty other children in the world with Progeria who are either undiagnosed or unknown by the organization.  In just these three months there have been three children identified; two are from Brazil and one is from Turkey.  PRF has set up a separate website to get the word out about this campaign.  Press releases about Progeria are being released in six languages across the world. 

          Once families are in contact with PRF, they can more fully understand Progeria and have access to the medical facilities they need as well as a network of families who know what one another is going through.  A clinical drug trial began in May, 2007 at Boston Children’s Hospital.  In just ten years, the Progeria Research Foundation has discovered the cause of Progeria and is working on treatment. This video introduces you to the children involved in the trial:

Dr. Leslie Gordon is the Medical Director of the Progeria Research Foundation.  She says the campaign is necessary to find children with Progeria:

As a parent of a child with Progeria, I don’t want other parents to feel helpless in diagnosing and treating their child. The “Find the Other 150” Campaign will allow PRF to provide these children with life-changing treatments and connect them with local medical professionals and other families of children with Progeria.

            The symptoms of Progeria include osteoporosis, growth failure, loss of body fat and hair, joint stiffness, cardiovascular disease and stroke (ProgeriaResearch.Org).  If you know a child with symptoms of Progeria, you can contact Audrey Gordon, President of the Progeria Research Foundation, at agordon@progeriaresearch.org.

Image from FindtheOther150.org

 

Purpose

January 25, 2010 - Leave a Response

        Hutchinson-Gilford Progeria Syndrome, or Progeria, is a rare, genetic condition that appears in children as the effects of accelerated aging. Progeria is caused by a mutation of the gene LMNA.  Prior to April, 2003, the cause of Progeria was unknown. Children with Progeria die at an average age of thirteen to heart disease.  Progeria was first described in the late 1800’s by Dr. Jonathan Hutchinson and Dr. Hastings Gilford.

       A cure for any ailment can only come about through extensive efforts and studies.  Funding for these studies is extremely costly.  For this reason, education is key to finding a cure for these children.  A cure for Progeria will likely also help millions of adults who suffer from heart disease and stroke as part of a natural aging process. 

       The Progeria Research Foundation is located in Peabody, MA.  They have now located 54 children in 30 countries living with Progeria.   However, researchers believe there are statistically another 150 children living undiagnosed, or not identified by the Foundation, with Progeria in the world.  I have seen their volunteers work first hand at raising money and spending their time working to raise money to cure Progeria. 

 

Inspiration

January 25, 2010 - Leave a Response

       I was introduced to the Progeria Research Foundation when I was in middle school.  The foundation had an office next to my dad’s where I would sometimes go after school. 

       One of my first memorable volunteering experiences was for the Progeria Research Foundation.  I spent a day of my break with two friends stuffing hundreds of envelopes.  I felt very accomplished after this experience and continued to volunteer at different events sponsored by the foundation.  My two friends and I even appeared in PRF’s newsletter in a picture taken from that day of volunteering.  PRF holds a bi-annual benefit for research that I have also volunteered for.

       Since the foundation is located in my hometown, it has been difficult to volunteer since I’m living at school in Connecticut.  However, I still try to educate others about Progeria when I get the chance. 

       TLC recently aired “6 Going on 60” which documented the lives of two girls, Kaylee and Lindsay, living with Progeria.  The moving documentary displayed the struggles and triumphs of their parents and families as their daughters try to live normal lives.  I watched with several of my roommates. They were moved and curious to find out what I knew about Progeria.  This made me realize that I can do my part to educate others and spread awareness for Progeria.