Media Coverage

Lori Sames, Executive Director of Hannah's Hope, was published in Drug Discovery Today  

Multifaceted Roles of Ultra-rare and Rare Disease Patients/Parents in Drug Discovery
Jill Wood, Lori Sames, Allison Moore and Sean Ekins

Drug Discovery Today
2013 Aug 19. pii: S1359-6446(13)00269-9. doi: 10.1016/j.drudis.2013.08.006
Published online November 2013

Abstract

Individual parents and patients are increasingly doing more to fund, discover and develop treatments for rare and ultra-rare diseases that afflict their children, themselves or their friends. They are performing roles in business development that would be classed as entrepreneurial, while their organizational roles in driving the science in some cases are equivalent to Principal Investigators. These roles are in addition to their usual one of advocates. Through their efforts and that of the collaborative networks which they have developed, they may be in position to disrupt drug discovery. This can be illustrated using three different ultra-rare disease parent / patient advocate groups and the diseases for which they are developing treatments. This represent an alternative model for pharmaceutical research.

Full Article

Dr. Steve Gray, Hannah's Hope's Lead Researcher and Superhero, appeared in the premiere journal, Nature

Disease research: Rare insights
Heidi Ledford
Nature 505, 443-445 (2014) doi:10.1038/nj7483-443a
Published online 15 January 2014

The following are excerpts from the full article.

Steven Gray used to spend long hours in the lab for the simple love of science. As a postdoctoral researcher, he was tinkering with a virus in search of ways to shuttle genes into nerve cells for gene therapy. Then, in 2008, his adviser sent him to a meeting held by a non-profit organization called Hannah's Hope Fund, and Gray found a new inspiration. 

Hannah's Hope Fund is a charity based in Rexford, New York, that supports research on giant axonal neuropathy (GAN), a fatal nerve disorder. At the meeting, Gray met Hannah Sames, a clumsy four-year-old with tight curls and a sweet smile whose disease had inspired her parents to start the charity. He launched a GAN project after the meeting. “I looked at her and saw my own daughter,” says Gray, whose child was then also four. “Now I'm focused on finding a treatment, almost as I would for my own child...”

Foundations expect their grant recipients to remain focused on the goal of helping patients. Gray warns applicants to his lab that this will sometimes mean dropping scientifically interesting experiments if they do not obviously contribute to the project's main mission. “We really make sure that everything we're doing is in the best interest of the people that are funding us,” he says...

Last year, [Gray] applied to the FDA for approval to conduct a GAN clinical trial. He counts several people with GAN and their families among his friends. His voice is strained when discussing the recent death of an adult with the condition whom he met at that original meeting. “It's tough,” he says. “You're always trying to work a little harder.”

GAN Warrior Polar Plunge Raises $35,000!

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We are indebted to the research team that presented the GAN poster at the December, 2012 American Society for Cell Biology meeting.  Please see the summary below.  Please note at the end of the article that it states, "This research was supported byan NIH grant and Hannah's Hope Fund."  Your donations are funding scientists' work, and here are the results.

Our deep gratitude goes to:

S. Mahammad, , P. S. Murthy, B. Grin, E. Kuczmarski & R. D. Goldman of the Department of Cell and Molecular Biology at Northwestern University Feinberg School of Medicine in Chicago.

A. Didonna & P. Opal at Davee Department of Neurology also at Northwestern.

R. Perrot & J-P. Julien of CHUL Research Centre & Department of Anatomy and Physiology, Université Laval, Quebec, Canada

P. Bomont, Inserm, Marseille, France

Hannah’s Hope Fund out to win $450K challenge grant with public's help

Published: Saturday, September 08, 2012

By GLENN GRIFFITH
ggriffith@saratogian.com

REXFORD — The locally based Hannah’s Hope Fund has received a $450,000 challenge grant from Doris Buffett, founder of the Sunshine Lady Foundation and sister of billionaire investor Warren Buffett.

This is the second grant the local family-run nonprofit has received from the philanthropist. But to receive the grant, the foundation must raise an equal amount of money.

Hannah’s Hope Fund was established 4-1/2 years ago by Matt and Lori Sames, the parents of the foundation’s namesake, Hannah Sames. The organization was created to research and develop a therapy and cure for Giant Axonal Neuropathy, a neurodegenerative condition that slowly affects one’s ability to speak, swallow and move their limbs.

The inherited condition results in progressive nerve death. Hannah Sames, an outgoing third-grader in the Shenendehowa school district, was diagnosed with GAN when she was 4.

The couple and their friends and family run the Hannah’s Hope Fund from their home in the Clifton Park hamlet of Rexford. It is the only public charity in the world for GAN.

If they are successful in matching the grant offered by Buffett, the foundation will use the $900,000 toward human clinical trials scheduled for the spring of 2013.

Over the years, Hannah’s Hope Fund has raised $3.2 million, including an earlier $500,000 challenge grant from Buffett and two Pepsi Challenge grants of $250,000 each. Matt Sames said those funds went for therapy development and research by an international scientific team as preparation for the clinical trials. The team has developed a gene replacement therapy they believe will save the central nervous system for patients afflicted with GAN.

“We told the team to just keep going and we would fundraise continuously,” Sames said.

To meet Buffett’s latest challenge, the Sames are launching Heroes for Hope. They are asking people to donate $50, send out a solicitation to 100 others and get three people to commit to do the same. Matt Sames acknowledged the popularity and advancements in social media has been a blessing for the foundation’s fundraising efforts.

Read about the foundation and how to donate at www.hannahshopefund.org. “We’d be dead in the water without Facebook, email and Twitter,” he said. “We’ve met with corporate officials who can’t believe we’ve got this far running the foundation with friends and family from our kitchen.”

Phase one of the clinical trials will have eight or nine children, including Hannah. Sames said the number of participants in the trials might go as high as 37.

The trials are scheduled to take place at the Children’s Hospital at the University of North Carolina, Chapel Hill.

What began as the couple’s mission to save their daughter has grown into an international organization with a realistic path toward a treatment and a cure. Generations of families may benefit from the therapeutic approach being financed by Hannah’s Hope Fund.

The therapy and cure that is being developed thanks to the local foundation’s determined efforts could apply to children and adults suffering from other neurodegenerative disorders such as spinal muscular atrophy and Charcot-Marie-Tooth disease.

There is also the possibility it could help as many as 5 percent of those diagnosed with amyotrophic lateral sclerosis or Lou Gehrig’s disease.

Sames said he and his wife had a meeting with Buffett in Maine and discussed Hannah’s Hope Fund. “She is a true American hero,” he said. “She wants to give people a hand up, not a hand out. She wants to have a positive affect on children and families. She’s not interested in seeing her name on buildings.”

Sames noted that if Hannah’s Hope Fund is unable to match Buffett’s $450,00 challenge, the foundation will get nothing from Buffett and the trials will be delayed until the $900,000 can be accumulated.

“We always thought we’d reach this point,” Sames said. “We never gave up.”

One of our GAN families, the Pizzurros were featured in this news report:

Gene Therapy For Giant Axonal Neuropathy – Lottyn Wants Chance To Write His Own StoryLottyn Bates

August 25, 2012 By Global Genes

Lottyn suffers from progressive condition called Giant Axonal Neuropathy (GAN) Lottyn is 13 years old. He was diagnosed with a rare condition called Giant Axonal Neuropathy at the age of 8.

Giant Axonal Neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function in the brain.

Giant Axonal Neuropathy has taken away Lottyn’s independence and dreams he has for his future. But GAN has not stolen Lottyn’s love for life. He wants the chance to write his own story, where the ending is not already written for him.

Lottyn enjoys spending time with his little brother and sister. He loves to play board games and also games on his iPad. Riding his golf cart with his family is a favorite in the evenings. His favorite week every year is spent at the MDA summer camp with his friends. He enjoys school and is a social animal!

Lottyn and other children with Giant Axonal Neuropathy are depending on gene therapy to help them rewrite the ending to their stories.

Five Questions for Kelly Obermayer

Published: Tuesday, August 14, 2012 By Jennifer Franke

Kelly Obermayer, of Queensbury, is the Director of Development of Hannah’s Hope Fund for Giant Axonal Neuropathy. The 6th annual Old Dater Farm Run for Life will be coming up on Sept. 16 to help raise money for Hannah’s Hope Fund.

Q What is Hannah’s Hope Fund for GAN?

A Hannah’s Hope for Giant Axonal Neuropathy Inc. is a non-for-profit, 501c3 public charity. The mission of Hannah’s Hope Fund is to raise funds for a treatment and cure of GAN. Lori and Matt Sames co-founded HHF following the diagnosis of their youngest daughter, Hannah, in March of 2008. At the time of Hannah’s diagnosis, Lori was only able to find one scientist in the world actively studying GAN in France. Now, the scientists working with Hannah’s Hope Fund have a GAN gene therapy Investigational New Drug (IND) that we are working to push to Phase 1 and Phase 2 clinical trials. HHF has found patients around the world that now have hope where there once was none.

Q How did you get involved in this?

A About a year ago a friend recommended me to Lori Sames, HHF Executive Director and Hannah’s Mother, who was searching for someone to help with fund raising. She hired me on the spot as HHF first and still only employee. I feel blessed and thankful to have this opportunity. I refer to my work as ‘my lottery job’ in that the reward of knowing I am making a difference and saving lives of these precious children is the only thing that matters. This position truly gives back to me more than I can ever give to it.

Q What is the upcoming race all about?

A HHF 6th Annual Old Dater Farm Run for Life will be held on Sunday, Sept 16. We estimate over 600 participants, plus spectators. This will once again be one of our largest fund raising events of the year. We feature an adult race with placings for fastest Male, Female and Team along with a walk/run and the ever exciting kids race. For details on how to register, volunteer, sponsor or just come out to join in the fun for this event and the entire HHF events people can visit our website at www.hannahshopefund.org.

Q What should people know about GAN?

A Giant Axonal Neuropathy (GAN) is a progressively degenerative neurological disorder that renders its victims quadriplegics, dependent on feeding and breathing tubes, and is fatal. Currently there is no cure. HHF is primarily a volunteer/family-driven organizations who through grassroots fundraising has gotten us this far. Sadly our funds are exhausted in paying for the FDA safety studies required to begin the clinical trial. We estimate a need to raise a minimum of $800,000 to begin Phase 1 and 2 of the clinical trial which is believed will also have efficacy in other disease communities such as SMA, CMT and ALS.

Q What is the goal for Hannah's Hope?

A The goal of Hannah's Hope Fund is to raise the funds for a treatment and cure of GAN. To save the lives of these precious young people and give them a chance to be more than they can be.

Giant Axonal Neuropathy (GAN) Takes Over Chrissy’s Small Body Causing Paralysis August 7, 2012
By Global Genes

 Chrissy is full of grace and hope living with Giant Axonal Neuropathy (GAN)

Chrissy is full of grace and hope living with Giant Axonal Neuropathy (GAN)

Chrissy was born on June 30, 2005 in Dallas, Texas. Her spirit is full of grace, she has golden brown eyes that will melt your heart. Her head is surrounded by light brown very kinky curly hair. Little did we know that this was a marker of the terrible genetic disease that would later develop in her little body.

When Chrissy was about three years old she began to walk with a very awkward gait and would fall quite frequently. Her pediatrician thought she would grow out of it. A few months later she lost reflexes in her legs and began to experience sudden, unexplained loss of control of her legs and would fall to the floor.

After 18 months of agonizing testing and many trips to Dallas Children’s Hospital, the earth shattering diagnosis was made: Chrissy was diagnosed with Giant Axonal Neuropathy, a very rare genetic disease that only a hand full of children have in the United States.

GAN is a progressive neurological disease that first affects the peripheral nerves then later the autonomic nerves. It causes paralysis of the legs and arms, and eventually the entire body, leaving the victim on breathing machines and unable to move, speak or swallow. It is terminal by the second or third decade of life.

Today, Chrissy can walk short distances with her braces and walker. For longer distances she must use her wheelchair.

Hannah Sames, of Clifton Park, travels to Lourdes on a pilgrimage - CN Weekly - by Francine Grinnell 

Published: Saturday, July 28, 2012

CLIFTON PARK — Hannah Sames, 8, of Clifton Park, is a special child. The youngest of three daughters born to parents Lori and Matt Sames, Hannah exhibited symptoms by the age of 3 that were diagnosed as Giant Axonal Neuropathy, or GAN. The pediatric neurologist and geneticists who saw her told parents, Lori and Matt Sames, that as yet there is no cure for GAN.

Refusing to accept the perceived sentence on Hannah, the Sames organized a 501C(3) called Hannah's Hope, to fund research toward a cure.

Since that time, the Sames have worked relentlessly to raise awareness and funds in the hope of winning the race against this disease.

The portion of the Sames story that has yet to be shared is that as a religious family, they are on a quest for a miracle for their child.

Nominated by Sylvia Phillips, an active fundraiser and community advocate in Clifton Park, Hannah was sponsored by a Catholic service organization called Sovereign Military Order of Malta, an international lay, religious order of the Roman Catholic Church, to participate in a pilgrimage to the site where many believe religious healings have occurred and where the Virgin Mary is said to have appeared to Bernadette Soubirous over 150 years ago.

For a few days in May, Hannah Sames and her mother Lori flew with 350 others in search of the miraculous.

Phillips and Lillian James, a resident of Loudonville and the chair of the local Order of Malta Association, were instrumental in arranging the trip, which is held annually. Phillips went on the trip this year.

“I was honored to be included on the pilgrimage this year to Lourdes, in France,” Phillips said. “We arrived on May 2, departing on a direct flight from Newark, New Jersey. The 350 Americans on the chartered flight included Knights and Dames of the Order of Malta, medical auxiliary, priests and religious, other clergy, and 50 malades, which is the French word for a person suffering from an illness. Hannah went on the trip; our community has embraced her. She has a very rare disease for which there is no known cure. They are in pursuit of releasing an experimental drug for it, but as yet there is no known cure. Hannah is our little sweetheart.”

Lori Sames accompanied her daughter on the trip as her caregiver. Anyone sponsored must be in the company of a person to care for their needs.

‘Me and my mommy wanted to go there because we knew it was close to the Lord,” Hannah said. “That’s where this little, homeless, poor little girl named Bernadette saw Mary.”

When parents pass on a mutated gene by   Ankit Ajmera, Mumbai Mirror | Jun 28, 2012, 01.12PM IST

Araghya has an incurable neurological condition that severes communication between her brain and her body.Araghya

When Araghya Malway was born on January 31, nine years ago, her mother Indu Rakesh was excited because she had curly hair unlike anyone in the family. Little did she know that the hair was, in fact, an indication of a rare, degenerative and an incurable condition known as Giant Axonal Neuropathy (GAN).

The condition, which causes nerve death, starts showing symptoms before five years of age. Most who suffer from it need a wheelchair by the second decade of their life. In the third, they may become quadriplegics and even die.

What is GAN?
GAN starts from the peripheral nervous system and affects movement, function and sensation in the arms, legs and other body parts. It later moves to the central nervous system causing seizures and disabling intellectual function.

The disease is caused by the dysfunction of a gene called gigaxonin. In the absence of this gene in nerve cells, proteins can't be broken down and accumulate, resulting in swollen axons — long nerve cell extensions that transmit signals to other cells. The brain is unable to make most body organs perform their normal function.

Araghya's story
Indu realised something was abnormal when Araghya wouldn't walk until she was 1.5 years old. "She was a premature baby and sat in an unusual way, with her knees together and feet apart. I thought this was why she was taking long," she says. A physiotherapist detected that Araghya had flat feet. When she started walking she would fall down often. Indu was advised to put insoles in her shoes. "As she had flat feet, I did not consult a doctor," says Indu.

When Araghya continued falling, one of her relatives suggested Indu consult a neurologist. After a brain MRI, and a peripheral nerve biopsy, Indu's world came crashing down. "My husband had gone to collect the reports. When I called him he didn't say much. He insisted he would explain when he returned. When I learnt my daughter has an incurable condition...," she trails off, breaking down.

The doctors had told the Malway family she was not likely to survive long. However, Indu was determined to find a solution. Although she wasn't computer savvy, with her son's help, she spent hours researching the condition. "There was nothing about treatment. It felt like walking in a dark tunnel with no end," she says.

Coping with it
GAN is an inherited condition — both parents inadvertently carry a mutated gene. It typically occurs in couples who marry close relatives. Parents may not show signs of the disease. "Ours was an arranged marriage. I don't know how this happened," Indu says.

Though there was no treatment, doctors recommended physiotherapy. Dr Rahul T Chakor, associate professor of neurology and head at neurology department, BYL Nair Hospital, says, "In the past seven years, I have come across only one such case in Mumbai with a pair of twins. Physiotherapy can help preserve mobility for as long as possible.

Speech and occupational therapists can maximise independence in the child's functioning. But these cannot stop the deterioration."

Even then, these days Araghya cannot walk and has been fitted with splints. Her mother puts her in the school bus and school staff help her to the classroom. "Teachers and friends have been kind. But most don't know she suffers from a degenerative condition. They think she has a deformity and speech problems. I don't know how to explain it to them," says Indu. Recently, Araghya's condition worsened, causing loss of vision in her left eye. Araghya is unable to grip a pencil or cup her palm to drink water. "I don't know what's going to happen to her tomorrow. Every day, we wake up to discover something new," says Indu.

Indu doesn't let her feel something is wrong. When Araghya sees other children playing she wonders why she can't join them. "I feel so weak from inside but tell her she is different and must not compare herself with others," says Indu, who bought her daugher a bicycle that she pushes around for hours in the evenings so her daughter doesn't feel left out.

Ray of hope
Indu has not stopped hoping. Araghya is now participating in a natural history study at Columbia University Medical Center. This study, funded by Hannah's Hope Fund (HHF), includes 30 other children with GAN from across the world. Araghya visits the centre in New York every six months. The medical centre recently said it had made a breakthrough. Dr Steven Gray, leading the GAN gene therapy project, has developed a genetic tool which, when injected in the patient, infects nerve cells with a healthy copy of the GAN gene. As the centre hopes to make its first clinical trial by September this year, Indu has her fingers crossed for her nine-year-old.

Ankit.Ajmera@timesgroup.com

Joy in the midst of an average life.  It all boils down to this...Mike and Joey

by Wendy Clark on 12 Apr 2011

Michael and Joey Pizzurro were normal, healthy little boys. At ages 7 and 4, they received a life sentence. They were diagnosed with Giant Axonal Neuropathy, GAN, a rare progressive neurological disorder that attacks every nerve in the body, eventually shutting down the entire central nervous system. Today, at 27 and 24, they cannot walk, talk, eat or even breathe without the support of a ventilator, but there is nothing wrong with their minds. They are prisoners of their own bodies.
I’d rather die than live that way. Or at least that’s what I thought until I met Michael and Joey last fall. Being in their presence can’t be put into words, so bear with me while I try. Their eyes sparkle, and there’s nearly always a smile on their faces. The only earthly word I can think to describe them is angels. They radiate love. Michael looked into my eyes and told me he knew what was in my heart, and that we could change the world. I got a tingle down my spine and an overwhelming feeling that Michael has a direct line to God

I asked him how he does it, stays happy and at peace. I was expecting a revelation, words that would change my life. “It’s hard,” he mouthed. “I just do.” Profoundly simple. “I just do.” Yet I have struggled to get out of bed because sometimes life, even under the very best of circumstances, just feels so darn difficult. Would I have the will to live without the ability to walk, talk or breathe?

Viktor Frankl, an Austrian neurologist and psychologist, spent three years in the Nazi concentration camps. Separated from his family – who were brutally murdered – freezing, starving and stumbling in the dark with a rifle-butt at his head, thinking of his wife, Frankl writes this…

“A thought transfixed me: for the first time in my life I saw the truth as it is set into song by so many poets, proclaimed as the final wisdom by so many thinkers. The truth -- that love is the ultimate and the highest goal to which man can aspire. Then I grasped the meaning of the greatest secret that human poetry and human thought and belief have to impart: The salvation of man is through love and in love. I understood how a man who has nothing left in this world still may know bliss, be it only for a brief moment, in the contemplation of his beloved. In a position of utter desolation, when man cannot express himself in positive action, when his only achievement may consist in enduring his sufferings in the right way—an honorable way—in such a position man can, through loving contemplation of the image he carries of his beloved, achieve fulfillment. For the first time in my life I was able to understand the meaning of the words, "The angels are lost in perpetual contemplation of an infinite glory...." (excerpt from Frankl’s famous Man’s Search for Meaning)

Dr. Frankl was a pretty smart guy who uses a lot of fancy words, so I had to read that about six times, slowly. His work is the foundation for much of today’s psychotherapy. I’m not a shrink, but I’ve helped pay college tuition for a few of their kids. Still, I keep forgetting the bottom line: I am not my stuff. I am not my achievements. I am not my voice or my body. Stripped of every single thing, I still am. Through the mercy and glory of His great love, I am. You are. We shall always be.   “I am convinced that neither death nor life, neither angels nor demons,neither the present nor the future, nor any powers, neither height nor depth, nor anything else in all creation, will be able to separate us from the love of God that is in Christ Jesus our Lord.” Romans 8:38-Joie de vivre, beloved Michael and Joey. Joi de vivre.

Hannah's Hope needs your helpHannah - Fox23 News

From Fox23 News - June 10, 2012

Reported by: Jamie Ratliff
Email: JamieRatliff@fox23news.com
Videographer: P. Busa

For 8-year-old Hannah and 9-year-old Araghya, playing together is a rare treat.

It's a moment you'd like to freeze in time, but for the parents, they know they're racing against it.

Both children have been diagnosed with Giant Axonal Neuropathy, known as GAN.

It's a rare, neurodegenerative genetic disorder without a cure.

"I can say I was flying, and I came down hard on the ground," said Indu Rakesh, mother of Araghya.

Indu now has hope thanks to Hannah's Hope.

Lori and Matt Sames started the fund more than four years ago after learning their daughter had GAN and that there was no one to turn to.

Araghya wants to be a fighter pilot in the Airforce, her mother determined to make it happen and with Lori and Matt, she feels she's one step closer.

"It is a big hope," said Indu. "Actually only hope I can say for us, people like us."

After moving mountains to find that hope with a generous community and a team of scientists, Hannah's Hope Fund has succeeded.

"We've done the hard part," said Matt. "Our team has actually developed a therapy. Now the easy part is raising $800,000."

The money is needed for the GAN gene therapy clinical trial, the first of its kind for GAN patients.

"The goal is to stop progression, rescue any nerve cell that's not dead yet, so time is critical," said Lori.

And it's a trial that could do even more than that.

"It's a novel approach with gene therapy, and if it works, we could help tens of thousands of kids with closely-related diseases like Spinal Muscular Atrophy, Charcot-Marie-Tooth, and believe it or not, five percent of ALS patients would benefit from our therapy," said Matt.

So no matter how insurmountable that monetary hurdle may seem, saving the lives of children with GAN means nothing is out of reach.

Lori and Matt hope to begin the gene therapy clinical trial in the first quarter of 2013, but they need your help to make that happen.

You can go to www.hannashopefund.org to donate

You can read this article here

Pinesdale mom looks to raise awareness of rare disease afflicting her sonsPinesdale mom looks to raise awareness of rare disease afflicting her sons

June 03, 2012 By DAVID ERICKSON Ravalli Republic - Missoulian

PINESDALE – It isn’t easy to rally support to find a cure for a deadly disease that only afflicts 28 people in the world.

And that’s a terrible dilemma to face for Charee Spencer of Pinesdale, because three of those 28 people are her children.

Her 5-year-old son Levi and her 4-year-old identical twins Aaron and Alan have been diagnosed with Giant Axonal Neuropathy, known as GAN.

The disease is a devastating genetic disorder that damages the nerve pathways that carry signals from the brain to the muscles. Almost always found in young children,GAN slowly causes its victims to lose control of their bodily functions.

Levi, who goes to Corvallis Primary School, is already losing the use of both his legs. He has to use a walker or a wheelchair to get around. Eventually, the disease will render him completely paralyzed. There isn’t anyone older than the age of 28 with the disease today, according to Spencer, and that person is a quadriplegic on a breathing tube. Most victims succumb before age 20.

Already, Alan and Aaron are losing their ability to walk. They both wear leg braces and have a slight shuffle in their gait. They both have also started vomiting frequently – another symptom.

Unless doctors can find a cure for this extremely rare disease about which very little is known – and soon – Charee’s sons will slowly lose control of their bodies, become bedridden and eventually die of it.

That’s why it is amazing how strong and positive she seems in the face of this storm.

“I’m just hoping the time doesn’t run out for us like it has for so many other people,” Charee said as she lifted Alan in her lap on Wednesday. “It’s just progressing so rapidly. It’s been a daily ordeal.”

Alan, Aaron and Levi all have extremely curly hair, which is another sign of the disease. Other than that, and their noticeable limps, they are perfectly normal children. They spent time Wednesday afternoon happily chasing each other around the house, pulling toys out of boxes and laughing. Charee has seven children: The other four are healthy and there is no family history of the disease.

Charee said she first noticed something was wrong with Levi when he was 2 years old.

“Levi started walking, and I noticed that he was walking weird,” she said. “His feet were sort of crippled up. And then he would get sick and throw up a lot.”

Charee took her son to a doctor in Hamilton, who referred her to another doctor in Salt Lake City. At first, they thought Levi had a different, curable disease. Charee had health insurance, but Levi’s treatment for a disease that he didn’t have was extremely expensive.

“Every time we took him in, it cost enough money to buy a new Porsche,” Charee said. After there was no sign of improvement, the doctors began to realize that Levi might have something more rare.

“I was actually doing my own research,” Charee said. “And I came to the realization that he had GAN at the same time the doctors in Salt Lake did.”

In fact, a simple Google search of GAN will bring up nothing about the disease.

“There just isn’t a lot out there,” Charee said. “Right now, I almost know more than the doctors know about it. I mean, there’s only 28 cases in the world and three of them are my kids.”

When Alan and Aaron were both diagnosed with GAN, Charee started desperately searching for some sort of treatment – anything that could help keep her kids alive.

In fact, there is only one advocacy group for the disease, called Hannah’s Hope Fund, that was started by the parents of a young girl with GAN. According to Charee, the last funded study about the disease was conducted by New York University, but that study ran out of money in 2006.

The first-ever scientific symposium on the disease was in 2008.

Because the disease is so rare, drug companies have very little financial incentive to research it or conduct costly clinical trials for possible treatments. That’s why parents like Charee have taken it upon themselves to find a solution.

Charee said the best hope right now is a complicated gene therapy treatment that involves spinal injections. That requires a lot of money and time, two things that all the parents of GAN patients don’t have a lot of.

“They first have to do a natural history study on GAN,” she explained. “That study tracks the untreated course of the disease, so they can measure that against the clinical outcome measures.”

The natural history study is expensive, and Charee said the founders of Hannah’s Hope Fund are overwhelmed.

“They just don’t have enough money or resources to handle every request,” she said. “But researching this disease will help all kinds of other rare diseases.”

Charee, with help from friends and family, has started a Facebook page called GAN Warriors dedicated to raising awareness about the disease and the plight of her children. She has also started a blog at www.ganwarriors. blogspot.com to update her daily struggles and triumphs with the boys. For example, on April 22, Charee’s friend Tiffany posted that Alan’s headache’s have been getting worse and he has been feeling dizzy.

“We’re just hoping to let people know what’s going on,” Charee said. “More publicity might mean finding a cure faster. We don’t have a lot of time.”


Times Union Article: http://www.timesunion.com/living/article/Gene-genies-3566418.php

Gene genies  - Local science author explores medical promise of gene therapy By Elizabeth Floyd Mair
May 18, 2012

Glenville resident Ricki Lewis has spent more than 30 years writing about science. Her specialty, she says, is explaining tough concepts for those who don't know much about it.

The textbook she wrote for non–science majors, "Human Genetics: Concepts and Applications," is now in its 10th edition. She also is the author of a textbook on anatomy and physiology that is required reading for pre-med students across the country.

Most recently Lewis is the author of an engaging and accessible look at the field of gene therapy, a field Lewis says is now "poised to explode." In "The Forever Fix: Gene Therapy and the Boy Who Saved It" (St. Martin's Press, March 2012, $25.99) she charts the rise of this little-known but rapidly maturing field. Clinical trials in gene therapy began in about 1990 and included some spectacular failures early on, but more recently have yielded more reliable results, at least in treating a small number of rare conditions caused by a malfunction in a single gene.

Gene therapy, Lewis explains, is a biotechnology that corrects an abnormal gene by delivering a normal one to the body part that's affected. In "Forever Fix," she delves deeply into the stories of families affected by gene therapy, including the family of a young man who died in 1999 from the treatment for his liver disease.

Several children whose stories feature heavily in "The Forever Fix" are from our region. Corey Haas — the boy of the title — is from Hadley, a river town in northern Saratoga County. He suffers from LCA2 — a congenital visual condition that had him, as Lewis writes, "well on his way to certain blindness."

Corey was featured on many national news programs after the 2008 experimental gene therapy that successfully saved sight in one of his eyes when he was 8 years old. (He has since had successful gene therapy on his other eye as well.)

Hannah Sames of Rexford suffers from the rare genetic disorder giant axonal neuropathy (GAN) and is scheduled to take part in the first-ever gene therapy clinical trials for her condition soon.

Lewis, who has a doctorate in genetics, and her husband Larry, a chemist at GE, have three adult daughters. Lewis is now working on a book about stem cells.

Q: You've written several very successful college science textbooks before, but this is your first full-length work of creative nonfiction. Was writing this new book a very different experience?

A: "The Forever Fix" was a complete departure for me, because it's completely opposite what a textbook is. It's been very liberating and challenging.

While my human genetics textbook has always included sidebars featuring families, "The Forever Fix" took me much farther into people's lives. I became very emotionally involved with the families.

Q: So what do you mean by the "forever fix" of the title?

A: A forever fix is a one-time treatment, a cure. Corey Haas has had his eyes fixed. He doesn't need a drug every day to maintain it.

If you take a statin for high cholesterol, or an anti-depressant to moderate your mood, or daily ibuprofen to keep your knees from hurting (like me), or Synthroid because you had your cancerous thyroid removed (me), or Zyrtec because you have an allergy (me) — those are not forever fixes. They are daily medications. However, they're attractive to the pharmaceutical industry, because they are a locked-in-for-life market.

Q: What do Corey and Hannah have in common?

A: They each have a recessive mutation that they got from parents, and gene therapy is a biotechnology that corrects an abnormal gene by delivering a normal one to the body part that's affected.

Q: Is gene therapy still in the experimental stages?

A: Yes, it's experimental. The FDA has not yet approved any gene therapy trials, but the procedure that was done on Corey Haas is going to enter Phase 3 clinical trials in about three or four weeks. That's the final phase, when safety and efficacy issues have already been fine tuned; that's when you do trials on hundreds of participants. After that comes approval by the FDA.

Q: So will gene therapy be available as a form of treatment for people with Corey's disease pretty soon?

A: I wouldn't say soon. Maybe five years.

Q: What sorts of diseases could possibly be treated with gene therapy in the future?

A: At the beginning it's being done on single-gene diseases, which tend to be the rarer ones. We understand the mechanisms of those diseases. And in order to fix something, we have to understand how it works. With Corey's disease, LCA2, there is one gene that's not working right. A single gene of his had a glitch that prevented his eyes from using vitamin A to send visual signals to his brain. It's very cut-and-dried and an easy-to-reach cell type. It's relatively simple to do.

But with other conditions ... for instance, macular degeneration, that are caused not by a single gene but by various genes interacting, the causes will be harder to tease out.

Q: Why do you call Corey "the boy who saved gene therapy"?

A: Gene therapy hit a wall in 1999 when an 18-year-old died in a clinical trial. I need to back up for a moment and describe how the book opens. What got me into this story was really Corey's story.

In September 2008, four days after his gene therapy, Corey went to the Philadelphia Zoo with his family. There was a giant hot-air balloon tethered to the roof of the zoo, and he heard the other kids looking at it and screaming. He looked up, too, and when he did, he began to shriek. It was the first time he had ever seen the sun. To me that was very moving, because I knew that in 1999, also in the third week in September in Philadelphia, an 18-year-old, had died after gene therapy, four days after his treatment. So the contrast was unbelievable.

After 1999, the field ground to a halt for about two years, and all these people in the clinical trials had to stop treatment and children backslid. It was just a nightmare. There was another nightmare in 2001 to 2003, when a gene therapy trial caused a number of children to develop leukemia.

So to finally have such astounding success on a child was just amazing. Corey wasn't really the first person successfully treated for LCA2, although he was one of the first. In 2007, some young adults were treated in England, and their success was every bit as wonderful as Corey's. But I just thought it was kind of cool to look at it through the eyes of a child.

Elizabeth Floyd Mair is a freelance writer who lives in Guilderland. Reach her at elizabethfloydmair@gmail.com.

Article Published February 11, 2009 Plattsburgh Press Republican:

Volleyball rallies for Hannah

BEEKMANTOWN — The Third Annual Volley for a Cure Tournament Saturday at Beekmantown was a huge success with more than 150 junior varsity and varsity players helping to raise nearly $4,000 for the Hannah's Hope Fund.
Hannah Sames, five-year-old daughter of Beekmantown graduate Lori Burnell and Plattsburgh High graduate Matt Sames, is suffering from a rare nerve disorder, giant axonayl neuropathy (GAN). Money raised funds research and raises awareness about the disease. For more information, visit the Web site hannahshopefund.org
Beekmantown won the tournament with Plattsburgh High, second, and Saranac, third. AuSable Valley, Northeastern Clinton and Peru also took part.


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