Tag Archives: Awareness

Rare Disease Day 2016

-from Press Release

AverysHope.org has joined forces with 30 million Americans and health care advocates around the world for Rare Disease Day® on February 29.  Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges people face.

According to the National Institutes of Health (NIH), a disease is rare if it affects fewer than 200,000 people.  Nearly 1 in 10 Americans live with a rare disease—affecting 30 million people—and two-thirds of these patients are children. There are more than 7,000 rare diseases and only approximately 450 FDA-approved medical treatments.

Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face.  It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe, and is now observed in more than 80 nations. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, a leading independent, non-profit organization committed to the identification, treatment, and cure of rare diseases.

For more information about Rare Disease Day visit www.rarediseaseday.us or www.rarediseaseday.org.

Rare Disease Day 2015

-from Press Release

AverysHope.org has joined forces with rare disease patients and health care advocates in the U.S. and around the world for Rare Disease Day® on February 28, 2015.  Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges faced by patients and the community.

According to the National Institutes of Health (NIH), a disease is rare if it affects fewer than 200,000 people.  Nearly 1 in 10 Americans live with a rare disease—affecting 30 million people—and two-thirds of these patients are children. There are more than 7,000 rare diseases and only approximately 450 FDA-approved medical treatments.

Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face.  It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe, and is now observed in more than 80 nations. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, a leading independent, non-profit organization committed to the identification, treatment, and cure of rare diseases.

For more information about Rare Disease Day visit www.rarediseaseday.us or www.rarediseaseday.org.

Rare Disease Day 2014

-from Press Release

Averyshope.org will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 28, 2014. On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as a global public health concern.

“Everyone knows someone with a rare disease,” said Peter L. Saltonstall, president and CEO of NORD. “Rare Disease Day is a time to show support for the 30 million Americans – and millions more around the world – living with rare diseases.”

A rare disease is one that affects fewer than 200,000 Americans. There are nearly 7,000 such diseases affecting nearly 30 million Americans, according to the National Institutes of Health (NIH).

Two-thirds of those affected by rare diseases are children, and the diseases tend to be serious and lifelong. Even so, most rare diseases have no approved treatment, and many are not even being studied by medical researchers. Often, research on rare diseases is funded by the families and friends of patients or by patient organizations.

On Rare Disease Day, patient organizations around the world unite to promote awareness of the challenges, hopes and needs of those living with rare diseases. For 2014, the focus is on caregiving, and the global theme is “Join Together for Better Care.”

In the U.S., the coalition supporting Rare Disease Day includes patient organizations, NIH and other government entities, medical researchers, hospitals and academic institutions, and pharmaceutical companies developing treatments for rare diseases.

Rare Disease Day 2014 activities in the U.S. will include State Legislature awareness events, a Tribute to Caregivers and Handprints Across America photo gallery on the national website (www.rarediseaseday.us), and events in communities across the U.S.

Rare Disease Day was launched in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe. It is now observed in more than 65 nations, and is sponsored in the U.S. by NORD.

For more information, please visit rarediseaseday.us or rarediseaseday.org.

Rare Disease Day 2013

-from Press Release

AverysHope.org will be joining the National Organization for Rare Disorders (NORD) and others around the world in observing World Rare Disease Day on February 28, 2013.  On this day, millions of patients and their families will share their stories to focus a spotlight on rare diseases as an important global public health concern.

“There are nearly 30 million Americans—and millions more around the world—affected by rare diseases,” said Peter L. Saltonstall, president and CEO of NORD.  “Everyone knows someone with a rare disease.  But, while many of these diseases are serious and lifelong, most have no treatment and many are not even being studied by researchers.  This leaves patients and families without hope for a better future.”

A rare disease is one that affects fewer than 200,000 Americans.  There are nearly 7,000 such diseases affecting nearly 30 million Americans.

On Rare Disease Day, people with rare diseases around the world promote awareness of the challenges of living with a rare disease.  The global theme for 2013 is “Rare Disorders Without Borders.” 

World Rare Disease Day was launched in Europe in 2008 and last year was observed in more than 60 nations.  It is always observed on the last day of February.  On that day, patients and patient organizations will post stories, videos and blogs online and host events to raise awareness of these diseases, which are often called “orphans”.

This year, the observance has special significance in the U.S. because 1983 is also the 30th anniversary of the Orphan Drug Act, which provides incentives to encourage companies to develop treatments for rare diseases, and of NORD, which was established by patient advocates in 1983.

In the U.S., the coalition supporting Rare Disease Day includes patient organizations and advocacy groups, media professionals and associations, government agencies, researchers, and companies developing treatments for rare diseases.

Rare Disease Day 2013 activities in the U.S. will include awareness events at several State Houses, a Rare Disease Research Hall of Fame, a Handprints Across America photo gallery, and an event at the National Institutes of Health (NIH) in Bethesda, MD.

“More than half of the people who have rare diseases are children,” Saltonstall said.  “Challenges faced by patients and their families include delayed diagnosis, few treatment options, and difficulty finding medical experts.  Many rare diseases have no approved treatment.  Insurance may not cover treatments that aren’t approved.  Also, treatments for rare diseases tend to be more expensive than those for common diseases.”

In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases.  Since then, more than 400 orphan drugs and biologics have been approved by the Food and Drug Administration (FDA).  It is estimated that approximately 15 million Americans benefit from these products, but that still leaves millions more with diseases for which there is no approved treatment.

For more information, please visit rarediseaseday.us or rarediseaseday.org.

Rare Disease Day 2012

-from press release

AverysHope.org will join the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29. The purpose is to focus attention on the needs of patients and families affected by rare diseases.

“This is a global observance,” said Peter L. Saltonstall, president and CEO of NORD. “Individuals and organizations around the world will all be sharing stories of how rare diseases affect their lives.”

The challenges of living with a rare disease, he said, include:

  • Difficulty getting a timely, accurate diagnosis
  • Too little research
  • Too few treatments
  • Reimbursement or other issues affecting access to treatments
  • A sense of isolation
  • Difficulty finding medical experts

In the U.S., any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans.

Studies have shown that it often takes five years or longer to get an accurate diagnosis of a rare disease. In addition, only about 200 of the diseases classified as rare have approved treatments.

Rare Disease Day started in Europe in 2008. It was launched by EURORDIS (Rare Diseases Europe). Last year, it was observed in more than 60 countries, with a national sponsor in each country. NORD is the sponsor in the U.S.

More than 500 patient organizations, government entities, research institutions, and companies developing treatments have signed up as Rare Disease Day Partners on the national website hosted by NORD (www.rarediseaseday.us).

Each year, a global planning team selects a theme for Rare Disease Day. The theme for 2012 is “Rare but strong together.”

Rare Disease Day activities in the U.S. will include a “Handprints Across America” campaign to create a gallery of photos on the Rare Disease Day website; educational materials for classroom teachers; and a nationwide blitz of patient photos, stories and videos to increase awareness of specific rare diseases and the challenges of living with a rare disease.

Several special events are planned, including a scientific symposium at the National Institutes of Health (NIH) and a Rare Disease Patient Advocacy Day at the Food and Drug Administration (FDA).

“Since many of these diseases are genetic, more than half of the people who have rare diseases are children” Saltonstall said. “The problems encountered by families are enormous. It’s important for these families to know they are not alone.”

For more information, please visit rarediseaseday.us or rarediseaseday.org.

Every Minute Counts.

Please visit Crazy Days Designs to purchase your very own “Every Minute Counts” pendant and chain.

The hand stamped washer and 24" ball chain necklace are made of stainless steel and the alarm clock is sterling silver.  The price is $30.00 plus $5.00 s/h and all proceeds from the sale of these pendants will be used for Glycogen Storage Disease research.  These pendants are “hand made with love, just for you!” by a mother of two little GSD boys, so she definitely knows the meaning of Every Minute Counts.

At 9 months old, Avery Robinson got a diagnosis that just three decades ago would have been a death sentence.

Avery has glycogen storage disease, a disease so rare that only one other child in the state of Mississippi is thought to have it, according to Avery’s doctors and parents.

The rare genetic disorder is marked by her body’s inability to produce an enzyme that allows her to maintain blood sugar levels. As a result, Avery has to eat or be fed every two waking hours or every four hours when asleep. She risks dangerous build-ups of lactate, uric acid and triglycerides leading to impaired breathing, seizures and coma if her strict regimen is disturbed in any way.

She has never eaten fruit, simple sugars or dairy. And at age 4, Avery, who lives in Hernando, knows more about GSD than even some of the local medical community.

“I have to wait now because in a minute I have to have my cornstarch,” she said before heading off to gymnastics.

Cornstarch, which is slowly digested, is a major staple in Avery’s life. She eats it to maintain her blood sugar between her carefully planned meals. When she is going to be active, she eats a little more than usual.

Just looking at her, it’s hard to tell she is sick. Credit for that goes to her parents, Adam and Nikki Robinson, and Dr. David Weinstein at the University of Florida, the leading authority on the disease.

With about 400 patients, Weinstein said he treats about 90 percent of the cases diagnosed in the U.S. as well as treating patients from 28 other countries.

“Prior to 1971, it was fatal and even as late as 10 years ago, many children weren’t surviving. That’s why I have made this my life’s work,” he said.

Weinstein has run the GSD research program at the University of Florida for the past seven years. His research has been focused on finding a treatment that minimizes the disease in his patients’ lives. He has already accomplished this in the lab.

“There is a breed of dog in which this condition is naturally occurring, and we have successfully treated them and they are now living very normal lives,” he said.

Weinstein said he hopes to apply for FDA permission to begin his gene therapy treatment in humans in the next one to two years. He believes that the gene therapy treatment will make the disease a very minor part of the children’s lives.

“Avery is thriving because of Dr. Weinstein’s work on GSD,” Adam said. “And the thing is, he is close to a treatment.”

The rarity of the disease is what led the Robinsons to start Avery’s Hope Fund. It’s designed to raise public awareness so they will help fund Weinstein’s research.

“Because GSD is so rare, it gets no federal funding and unlike autism, cancer or diabetes, no one has heard of it. How do you raise funds for something no one has heard of? We had never heard of it before Avery was diagnosed with it,” Adam said.

Now, there is not an aspect of the disease the Robinsons are not familiar with, out of necessity. Any sign of something like a stomach flu in Avery’s case is life-threatening. If she vomits, her parents have less than two hours to hook up a pump directly to a port in her stomach to maintain her blood sugar. If they are unable to for any reason, the next step is hospitalization.

“We have had to call paramedics and they always first think to give Avery glucagon like they would low blood sugar in a diabetic, but Avery’s body can’t take that. In fact, it could raise her lactate levels so high it could kill her,” Nikki said.

But the Robinsons are quick to point out that none of the money donated to Avery’s Fund is for Avery’s care; they have that well in hand. The fund’s goal is to make Weinstein’s research and the gene therapy treatment a reality for everyone with GSD.

Since the Robinsons began the fund last summer, they have raised $15,000. Adam estimates it will cost about $3 million raised by funds like Avery’s before the human trials can begin.

For more information on GSD or donate to Avery’s Hope Fund, visit averyshope.org.

Photo Credit: Stan Carroll

Woman Must Eat Cornstarch to Stay Alive

GREENWOOD VILLAGE, Colo. (CBS4) – A young wife and mother with a potentially deadly disease is looking for help finding a cure. All her life she’s had to stick to a strict diet to stay healthy and that includes plenty of corn starch.

Heather Edwards must stick to a strict diet with no fruit, no milk and no candy. Her liver cannot process the sugars. She suffers from what is called Glycogen Storage Disease or GSD.

GSD is a rare genetic disorder that affects the way the body breaks down food into energy.

Edwards was diagnosed with the GSD when she was only four months old. She needed a feeding tube to get nutrition and maintain her blood sugar. The simple answer to the complicated problem was corn starch.

“Corn starch is basically a complex carbohydrate that breaks down really slowly through your intestines versus your liver,” said Edwards.

Every day Edwards prepares six doses. She mixes corn starch with water and drinks it every few hours, even in the middle of the night. She could die if she doesn’t drink the corn starch.

Edwards said GSD is so rare she is literally one in a million people. She has a cupboard filled with corn starch and always carries some with her.

“I like to think of myself as a role model and try to help the families with younger kids out there to give them hope,” said Edwards.

Edwards and her husband, Jonathan, have started a foundation to fund research to find better treatments and a cure for GSD.

She travels to Florida once a year to see a specialist and has set up a donation site through the University of Florida named after her daughter, Hailey. (Hailey’s Promise)

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(via Collinsville Family Prays For A Cure For Children’s Rare Disease)

COLLINSVILLE, Oklahoma –

Everyone with children remembers those overnight feedings, and of course, we remember when they ended. But what if they didn’t end?

One parent is up every two or three hours every night for the foreseeable future, that’s what life is like for a Collinsville family. Their two younger children require regular feedings every three hours of every night. Wait until you hear what they are eating.

They are the Marshalls’ kids from Collinsville, sisters Kamilynn, and Brynlee, brothers Beckett and Harrison, ages 7 to 20 months.

You’d never know it, but the boys have a very rare disease called Glycogen Storage Disease. Their livers don’t process sugar properly, so without a regular supplement, the supplement is corn starch.

“This is what we go through in about two days,” Amy Marshall said.

It keeps their blood sugar at a consistent level. The Marshalls buy it by the case at Sam’s Club, a simple sounding answer to a very complex problem.

“They couldn’t just eat more often, the food is not enough, the corn starch is what they need,” Ryan Marshall said.

Not just an occasional supplement, they showed us the schedule. A prescribed amount mixed with cold water, every two or three hours of everyday, conceivably forever.

“They’ve fallen through the cracks of the system,” Ryan said.

Because there are so few cases, only one other in Oklahoma agencies that might provide assistance have to become educated. The Marshalls say the process is endless.

The kids’ immune systems are weaker, so germs are a problem.

“We try to stay out of public places,” Amy said.

Even minor illnesses can result in a hospital stay. Daily routine is onerous enough. Every night, they put together an “overnight basket” pre-measured containers for each boy. They’ve got to check blood sugar ever two hours too.

The Marshalls hope and pray for a cure. Until then, they do all they can to ensure the kids are as healthy and happy as possible.