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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.

Dylan Siegel, left, has raised more than half a million dollars to help Jonah Pournazarian, right, his friend who suffers from a rare liver disease. (Credit: ABC News)

Boy Author Raises $750k For Sick Friend

by Sydney Lupkin (@slupkin)

Every morning at 3 a.m. Lora Pournazarian is awake to feed her 8-year-old son Jonah a mixture of corn starch and water through a tube in his stomach.

If she doesn’t, Jonah could die because he has a rare form of glycogen storage disease, a hereditary disorder that means his liver can store sugar but can’t release it, causing him to have dangerously low blood sugar levels that can result in seizures or even death.

“That’s huge anxiety every night,” his mother Lora Pournazarian told ABC News. “We go to sleep going, ‘We hope we don’t miss an alarm clock because he could die.’“

But Jonah’s parents aren’t the only ones looking out for him. His best friend from preschool, Dylan Siegel has his back, too.

Dr. David Weinstein, who studies and treats patients with glycogen storage disease at the University of Florida, was almost out of funding when he heard that Dylan wanted to help raise money to find a cure for the disease. Dylan was only 6 years old at the time, so Weinstein mostly just thought he was cute.

But Dylan had other plans. He wrote a book called “Chocolate Bar,” and explained to his parents “chocolate bar” means “awesome” to him. “Disneyland is so chocolate bar,” the book starts out. The last page says, “I like to help my friends. That is the biggest chocolate bar.”

Dylan’s project raised more than $750,000 in a little more than a year by selling the books for $20 each in all 50 states and 42 countries. Every cent goes to Weinstein’s lab.

“Boy, have I been shocked,” Weinstein told ABC News in September, when the book had crossed the $400,000 mark. “He’s raised more money for this disease than all the medical foundations and all the grants combined. Ever.”

When this story aired on ABC World News Wednesday night, “Chocolate Bar” had raised more than $500,000. Fewer than 24 hours later, it had raised an additional $250,000.

When asked where the two boys will be in 10 or 15 years, Dylan said, “High school, and probably his disease would be cured ’cause it’s not going to take like 15 years to be cured.”

That would be so chocolate bar.

Charlotte Jordan, 6, (left) with her sister Alexis Jordan, 10.

Gift of Hope

by Melanie Stawicki Azam

Florida Physician

For Lindsay Jordan, it was a mixed blessing when her daughter Charlotte was diagnosed with glycogen storage disease type 1a.

On one hand, the California mother finally knew why her 3-year-old little girl had been struggling to thrive since birth. At the same time, she faced the sobering reality that Charlotte had a rare genetic disease that could be fatal if not properly treated.

“It was a surreal experience, but I knew she’d been sick,” Jordan said.

Little did she know that Charlotte’s condition would take her to the other side of the U.S. for treatment and inspire her family to donate $1 million to UF to help find a cure for glycogen storage disease type 1a, also known as GSD 1a.

The Fry Foundation, which Lindsay Jordan’s parents, Stephen T. and Cynthia Fry, created, donated the money to establish The Charlotte’s Cure for Type 1a GSD fund. The money will support research geared toward finding a cure for the disease.

“Their gift is the biggest in the history of the program,” said David Weinstein, MD, MMSc, a professor of pediatrics and director of the UF Glycogen Storage Disease Program. “It allows me to focus on some of the programs we’re working on, including gene therapy.”

The UF GSD program is the largest of its kind in the world for care and research for the liver forms of GSD, such as type 1a. It follows more than 425 patients from 37 countries and all U.S. states.

GSD type 1, which affects about one in 100,000 children, impacts the body’s ability to correctly store and use sugar between meals.

After Charlotte was diagnosed with GSD 1a at her local hospital in California, she still struggled from complications related to the disease.

Charlotte met with Weinstein in November 2011 and thrived under his care. Now 6 years old, she visits him annually.

“He could have dedicated himself to anything and for him to pick this little–known disease and try to make a difference for these kids is amazing,” Jordan said.

Photo Credit:  Jordan Family Photo

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.

2012 Autographed SEC Coaches Ball

The Southeastern Conference (SEC) has once again generously donated an autographed football to Avery’s Hope. There was only one ball that was signed by all of the coaches and SEC Commissioner Mike Slive during 2012 SEC Media Days.  This is also the first year of the expansion that welcomes University of Missouri Tigers and Texas A&M University Aggies.

Avery’s Hope will be selling tickets over the next few months and a winner will be chosen on December 1, 2012, during the SEC Championship game.  The football will be presented in a very nice wooden based crystal styrene display case that has a UV coating to protect the signatures.

For a donation of $5.00, you will receive 1 ticket, and for an even better deal, you can get 5 tickets for a donation of $20.00.  All proceeds will go to benefit Glycogen Storage Disease research being done at the University of Florida.  

This year, tickets can also be purchased online on our DONATE page by selecting the quantity in the drop down list box.  If you have any questions, please feel free to contact us on Facebook, or by e-mail.

Signatures included:

Mike Slive – Southeastern Conference

Nick Saban – University of Alabama

John L. Smith – University of Arkansas

Gene Chizik – Auburn University

Will Muschamp – University of Florida

Mark Richt – University of Georgia

Joker Phillips – University of Kentucky

Les Miles – Louisiana State University

Hugh Freeze – University of Mississippi

Dan Mullen – Mississippi State University

Gary Pinkel – University of Missouri

Steve Spurrier – University of South Carolina

Derek Dooley – University of Tennessee

Kevin Sumlin – Texas A&M University

James Franklin – Vanderbilt University

A boy’s serious ailment required only a simple fix once it was diagnosed.

By Sandra G. Boodman

When she heard her younger son’s quavery cry of “M-o-o-o-m-m-m” drifting down the hall in the middle of the night, Jocelyn Mathiasen stiffened, braced for what lay ahead.

Sometimes the little boy would awaken just before dawn shaky and weak, complaining of hunger or thirst; after consuming something he would quickly recover. But on the bad nights Peter Dawson would spend hours lying on the floor of the bathroom clutching his stomach, vomiting intermittently and refusing to drink anything. It took him hours to rebound — and it was never clear what had made him so sick.

Mathiasen did not know what to make of these episodes, which at first were only mild and infrequent, blips in the life of her otherwise healthy child. But when Peter turned 5 in 2006 and the family moved to Easton, Conn., from Seattle, Mathiasen asked her new pediatrician whether the episodes were normal. Leveling a hard look at her, he told her that what she was describing was definitely not normal — and might signify a serious problem, such as juvenile, or Type 1, diabetes. But after tests for diabetes were negative, the search for the underlying cause of Peter’s odd problem floundered.

It would take nearly five years for a specialist eight states away to figure out what was wrong. The solution was a surprisingly cheap and prosaic remedy — but one that recently drew attention in an airport security line.

As an infant, Peter would periodically wake up in the morning in obvious distress, grabbing his bottle and sucking down the contents “in one gulp, like he was desperate,” his mother recalled.

“I didn’t worry too much about it because it didn’t happen often, and after he ate he seemed fine,” Mathiasen said. For some reason the episodes were worse when the family traveled. Mathiasen said she refrained from mentioning them to his doctor, not wanting to seem alarmist. “I was trying to be this relaxed mother,” she said.

After the test for diabetes was negative, the pediatrician referred Peter to a pediatric endocrinologist in New Haven. Once a tumor and several other disorders had been ruled out, the doctor settled on a diagnosis of reactive hypoglycemia: severely low blood sugar that occurs several hours after eating. She predicted that Peter would outgrow the problem when he hit puberty and recommended that he eat yogurt at bedtime: The protein would be slowly digested and would prevent his blood sugar from plummeting.

By 2007 Mathiasen had become increasingly uneasy. Despite the yogurt, Peter kept having episodes. She began keeping lollipops or Skittles in the house: A rapid hit of sugar seemed to help him recover faster.

After four incidents in four weeks, Mathiasen consulted a second pediatric endocrinologist. He admitted the first-grader to a hospital overnight, hoping to catch an episode, which could provide important clues. Peter underwent hourly checks; although his blood sugar dropped, the readings were not alarming.

When he was discharged the following morning, Mathiasen was told to continue the yogurt regimen; by now he was eating two heaping bowls at bedtime.

“It was a very, very disconcerting experience,” recalled Mathiasen, who had become increasingly convinced that waiting for the problem to disappear was not a solution. In the spring of 2008, Peter had a scary episode on a trip. The family had forgotten his bedtime yogurt, and he awoke shaky and incoherent. His parents gave him a lollipop and bundled him into the car; at the airport he vomited several times, reluctantly ate a cookie and then fell into a deep sleep on the plane. After he woke up he drank six glasses of milk, then seemed fine.

“At that point, I said we really need to figure out what’s going on here,” Mathiasen recalled.

In December 2008, Peter underwent a complete workup with the second endocrinologist, which provided no answers. Mathiasen had been monitoring Peter’s blood sugar when he woke; she found that readings on some days were very high, not low. Because nothing else seemed to fit, the endocrinologist suggested that Peter might have a rare condition: glycogen storage disease (GSD).

The inherited metabolic problem is a constellation of 14 disorders, ranging from mild to life-threatening, that result from the impaired regulation of glycogen, the stored form of glucose, which the body uses for fuel. DNA testing for the disease, which afffects about one in 20,000 people, according to Cincinnati Children’s Hospital, had recently become available. The doctor suggested that Peter undergo a test for a mild form of GSD that seemed to fit his symptoms. After several months, the family’s insurance company agreed to pay for it.

Months went by — genetic tests often take a long time — and Mathiasen, who had heard nothing, began calling the doctor. In October 2009, he sent her an apologetic e-mail: The lab had lost the sample before the DNA test could be performed.

“My clinical impression [is] that this glycogen storage disease diagnosis is highly unlikely,” he wrote. He proposed that Peter undergo a procedure to implant a device that continuously monitors glucose levels to see if he might have a rare condition called exercise-
induced hyperinsulinism, or low blood sugar after exercise, because some episodes had occurred after skiing.

Mathiasen, who was then spending hours online researching Peter’s symptoms, assisted by a friend who is an endocrinologist in Baltimore, decided that maybe GSD wasn’t so unlikely. The name of one expert kept popping up: pediatric endocrinologist David A. Weinstein, who heads the Glycogen Storage Disease Program at the University of Florida College of Medicine.

One evening in February 2010, Mathiasen sent Weinstein an e-mail. She described Peter’s case and said she’d hit a brick wall. Did Weinstein have any suggestions?

Soon afterward Weinstein called Mathiasen back. He agreed that Peter might have GSD and recommended the family buy a monitor that could check the level of ketones, potentially dangerous substances that can cause nausea and vomiting and, at sustained high levels, death. Ketones, produced when the body uses fat rather than glucose for energy, would be an important clue to a diagnosis; ketotic hypoglycemia is a symptom of some forms of GSD. Testing over the next few months showed that Peter’s ketone levels were sometimes dangerously elevated; his body was literally starving for energy.

A cheap treatment

Weinstein agreed to accept Peter as a patient and to perform DNA testing. He advised Mathiasen to replace the bedtime yogurt with a drink containing several tablespoons of cornstarch. One of the cheapest ingredients in a supermarket at less than $2 per box, cornstarch provides slow-release glucose. Within weeks, Peter’s episodes largely disappeared.

In June 2011, after the first DNA test proved to be negative, Peter and his mother flew to Florida to see Weinstein, who observed Peter having an episode in the hospital. Peter was then tested for two other generally mild forms. Six months later, just as the family was departing for a holiday trip, Weinstein called with the diagnosis that had taken five years: Peter’s DNA test revealed he had a type of GSD that is caused by a deficiency in the liver enzyme phosphorylase kinase.

GSD has received scant attention and is, in Weinstein’s view, underdiagnosed; in part, this is because there is little incentive to develop sophisticated treatments, since cornstarch has proven effective for certain forms of the disease if detected early enough. “One of the problems we’ve had is that treatments are not fancy — cornstarch is a gravy thickener,” observed Weinstein, who said his program has treated 400 children from 31 countries and nearly every state. “Most people feel that if we’re not treating it with a fancy medication, it’s not a real medical condition,” and in some cases schools don’t take it seriously.

Although Peter’s type of GSD tends to be mild and can be controlled with a combination of careful monitoring, a high-protein diet and cornstarch, Weinstein said he has seen babies who needed liver transplants. “There’s a variability we don’t quite understand” in the severity of the disease.

Peter, who will soon turn 11, has been told that when he is older he must completely abstain from alcohol, because it could damage his liver. He takes cornstarch dissolved in a drink at bedtime every night and also during the day if he is especially active. And he always travels with several boxes of the cheap white powder and a scale to measure it. For children who travel by air, the cornstarch regimen can raise questions. Recently, Mathiasen said, her family was stopped at a New York airport, where airline security guards tested Peter’s cornstarch. (Weinstein said he offers patients a letter explaining the therapy.)

The strange, shaky episodes are a thing of the past, and Peter is living a normal life. “Now I know what’s wrong, how to treat it, what’s going to happen next and I have a doctor to call,” Mathiasen said. “It’s such a relief.”

Photo Credit:  Family Photo

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

Thank You SEC

We would like to thank Commissioner Mike Slive and his staff at the Southeastern Conference (SEC) for generously donating the autographed SEC coaches ball to Avery’s Hope Fund.  The football was signed by the 12 coaches of the Southeastern Conference during the 2011 SEC Media Days.

By selling raffle tickets, we were able to raise $5200 dollars that will be used for Glycogen Storage Disease research at the the University of Florida.

We would also like to take a moment to thank Associate Director of Media Relations, Chuck Dunlap (@SEC_Chuck) for making this fundraising event possible.

Thank you SEC, and congratulations on winning a 6th consecutive BCS National Championship title.