Family Stories

Stories submitted by families are not edited by BDSRA.

Texas Boy in News


 Casen Cameron’s Struggle Helps Fuel Fight Against Batten Disease
By TIM MONZINGO, Staff Writer
At 7:30 a.m. each day, 4-year-old Casen Cameron starts his regiment of medications. A series of three pills is intended to control the seizures that used to wrack his little body on a daily basis. A fourth pill helps control his salivation.
The pill regiment continues through the day until 8 p.m.
The measures are the latest and, thus far, most effective means to control the degenerative neurological disorder called Batten Disease.
“We’ve been through … how many medicines? You have to get the right cocktail,” said Pamela Cameron, Casen’s grandmother and a primary care giver. “I look like I have a pharmacy out there when I have everything set up.”
It is estimated that the disease affects “two to four of every 100,000 births in the United States,” according to the Batten Disease Support and Research Association. World-wide, it’s estimated some 1,200 children suffer from the disease, 20 of those cases in Texas.
What Casen’s grandmother and his father, Corey, along with all the other parents of Batten
Disease children, know is that the drugs only control the effects of the disease.
“There’s a lot we don’t understand yet,” said Dr. Erika Augustine, a senior instructor of
neurology and pediatrics at the University of Rochester’s Batten Disease Center.
Current research suggests Batten Disease is the result of a mutated gene, inherited from a child’s mother and father who both are carriers. That gene produces a protein, and scientists are still trying to determine exactly how that protein acts in the body, Dr. Augustine said. “So how the disease works, that’s something that we’re still lacking in terms of knowledge,” she said, referring to what exactly causes the loss of sight, brain ability and muscle function. “We’re almost there, but there are things about the protein for this specific disease that are hard to study.” She said initial research focused on understanding something called a liposome, a center in the cell that regulates the waste the cell creates. Essentially, the gene mutation seems to keep the liposome from being able to clear away the waste, and it builds up, she said.
Over time, the damage causes blindness, dementia and a loss of muscle control, she said. As the disease progresses, a child’s body becomes less able to fight infections.
Early death is the inevitable end of Batten Disease. Casen suffered his first major seizure in November 2009, days before he turned 3. They continued into Christmas.
After a slew of doctors and specialists misdiagnosed Casen with epilepsy over the course of two years, confirmation of Batten Disease came from a child neurology specialist in Dallas in June of 2011. Since then, Casen has lost most of his sight, Corey and Pamela said. His doctor in Dallas told them he’s likely legally blind in his right eye with only a little vision in his left. Most of his muscle control, despite regular physical therapy, has gone as well.
In February, Corey snapped a picture of Casen, smiling and sitting on the floor at his
grandmother’s house. “He doesn’t sit up on his own anymore,” Corey said. “He’s just losing all his muscle tone.”
The disease has evidenced itself in his eyes even more in recent months, Corey said.
“They bounce continuously,” he said, playing a video on his phone of Casen’s eyes vibrating up and down like rubber ball caught in a continuous loop. “Now it’s every day, 24 hours a day. If his eyes are open, they’re bouncing.”
Dr. Augustine said that in the disease’s early stages, the child is aware of the changes. Until dementia sets in as the disease progresses, clouding the mind, the child knows something is wrong. “There is likely a period of time where they have some symptoms, and they’ve had some decrease in their overall function, yet they’re still cognitively aware enough to know that things are happening,” she said.
Conceived from the devastation and helplessness Casen’s diagnosis brought on the Cameron family, Casen’s Crusade was born. The Crusade is the family’s way of fighting the disease, by spreading awareness and fighting for the research and medical work needed to spare other families the pain they’re suffering, Pamela and Corey said.
“They may not save Casen, but they can save another child,” Casen’s grandmother said.
The United States is at the epicenter of Batten Disease research, said Lance Johnston, the executive director of the Batten Disease Support and Research Association. The association is dedicated to providing support and money for families, scientists and doctors working to combat the disease.
Since its inception in the 1987, the association has poured more than $4 million into research on both the clinical and laboratory levels.
It isn’t easy, though, both Johnston and Dr. Augustine agreed.
While researchers at both the clinical and laboratory level face unique sets of challenges, Dr. Augustine said, there is one common thread. “Common to all of us is that it’s a rare disease. There are only so many people who have it,” she said. “There aren’t any affected individuals in western New York, in our area.”
To get research dollars from the federal government through the National Institute of Health and the Federal Drug Administration, Batten Disease researchers compete against researchers working with diabetes, cancer and other widespread illnesses, Johnston said.
“Rare disease has been lagging behind in research for years and years and years. It’s because numbers count,” he said. “You have a million people with cancer, and you have 500 children with Batten Disease. The numbers run the money.”
That realization is something that hits parents of Batten Disease children hard, Casen’s
grandmother said. She said they know other parents whose kids have leukemia and other diseases are suffering too, but she feels like they can take some comfort in the wide-ranging, well-funded research into those diseases.
“They’re testing, they do things for leukemia and cancer, diabetes and autism,” she said. “What are they doing for Batten?”
Johnston said part of his association’s mission is to try to get scientists to the place where  they can effectively compete for big money from pharmaceutical, biotechnology companies and the government. Before they can get that money, scientists have to build data on what they’re looking into. That’s where the much of the association’s money goes.
Johnston calls it seed money. “The seed money we give them gives them that opportunity to develop the data that they need to go after the larger funding,” he said.
That money has spurred research in stem cell trails, gene enzyme replacement therapies, he said.
Scientists are even combing through thousands of unmarketed drugs by pharmaceutical
companies to see if any of them work for Batten Disease. The multi-drug approach Casen goes through daily isn’t unique to patients, Johnston said. Currently, some researchers are working to develop a “three-pronged” approach, combining gene therapy with bone-marrow transplants and drugs. “One of the things that’s really great about the research that we’re doing is we’re not putting all our eggs in one basket. We’re taking every approach that we can take,” Johnston said.
Despite efforts of scientists and doctors worldwide, Dr. Augustine said she thinks it will be some time before an effective way emerges to truly fight the disease.
For the time being, all the drugs and research has only truly proven effective at slowing the
diseases progression, not stopping or reversing the effects.
Casen’s father and grandmother said it was a tough decision, but they decided to take him out of drug trials to spare him more pain.
The decision was, in part based on a discussion with another East Texas family whose son, Joshua, was lost to the disease in 2007. “They said they spent too much time in the hospital, and if they had to do it over again, they wouldn’t do it,” Corey said about a conversation with Joshua’s parents, Paul and Leann Spencer. “I just want to love him, give him everything he needs.”
Casen’s grandmother said it might be different if there were evidence that a trial or therapy was effectively stopping or curing the disease.
That’s a sentiment Dr. Augustine said she understands completely. “I think that’s one of things that’s most challenging about this line of research,” she said. “Parents that are so willing and so giving often recognize that the research in which they’re participating,
the information that they’re sharing, may not help their child. Every day, every year is a year lost for a child who’s currently suffering from Batten Disease.”
Johnston said there are options for donating tissue for research postmortem to aid in research. That’s something Corey and Casen’s mother will have to discuss later.
In the meantime, researchers such as Dr. Augustine are hopeful that work on the disease is in a new stage, she said.
And through the struggle, Pamela said Casen has maintained one vital thing. “But you know, through all of it, he still smiles,” she said.
EDITOR’S NOTE: This is the latest in a series of occasional stories about Casen Cameron and his fight with Batten Disease.

Special Child: Averee Pierce


Averee was welcomed into the world on March 9th, 2004 weighing 8lbs 14ozs. The most precious little thing that you ever did see. Averee was a very active baby – she met all of her milestones at an early age apart from her speech, but we weren’t really too concerned about it.

Averee had her first seizure on June 21, 2007. She was at a grocery store enjoying her bag of chips and talking to everyone that she saw. It was then that Averee started stumbling; I picked her up and she was unresponsive. We took her to the hospital and it was there that they sent her in an ambulance to a bigger hospital two hours away to get checked by the pediatrician. He said Averee was fine and sent her home but she would have to go back a few days later to have an EEG.

Averee had her EEG done but we didn’t get the results until July 16, 2007. By this time Averee already had another staring spell so we knew there was something wrong. The doctor told us that she had an absence seizure. The pediatrician referred her to the Janeway Children’s Hospital. The neurologist gave Averee another EEG and it was then he diagnosed Averee with epilepsy.

The neurologist started Averee on Tegretol. After about two weeks of taking this medication, Averee began to drop to the floor. Then she developed a really bad rash and we found out she was allergic to the medication. While Averee’s condition was declining the nurse coordinator of the neurology department had mentioned Batten disease to us. We really didn’t know much about it so we researched it and decided to get her tested in March of 2008 by a skin biopsy under her arm.

On April 3, 2008 we got the most devastating news ever, something that no parent should ever have to hear – that Averee had Late Infantile Batten Disease. There is no preparation for news like this but we have learned to take it one day at a time. Since being diagnosed, Averee has lost her ability to walk, talk and is now being fed through a G-Tube. It’s heartbreaking to watch your child go through something like this.

Averee is still the happy go lucky little girl that we have always had and loved and we enjoy spending every moment with her.

To learn more about Averee, please visit Averee’s Purpose at www.avereespurpose.ca

Family Effects: Shawna Rhodes


Written by: Shawna Rhodes

A Rare Disease: Rob Caughey


Written by: Rob Caughey

Rob Caughey briefly discusses the challenges of raising a child diagnosed with Batten disease.

Our Holiday Story: Daniel Yanak — A Fallen Angel


Written by: Debbie Ham


The sights and sounds of the Holiday Season are all around us. Bright colorful lights, Christmas music, children waiting in excited anticipation of Christmas morning.

During this time of year there is a sense of hope that moves us from the cares of our everyday life to participate in the joy that fills us, the hope of the season, and all the good that surrounds us. We also turn our thoughts to those less fortunate than ourselves even as we plan our holiday celebrations.

It is in this spirit that we ask you to take a moment to open your heart to the story of children that are struggling against a disease for which there is no cure. A disease that robs them of their ability to see, then takes their ability to walk, then talk, and ultimately robs them of a future. This terrible disease takes a bright shining little boy or girl and steals their thoughts, their memories, their understanding.

Our family is one of many families that have traveled this journey with a child – for us our beloved son, brother, grandson Daniel Yanak lost his fight against this disease on December 22, 2003 at what should have been the prime of his life. He was 23 years old. What stole Daniel’s dreams and hopes and broke our hearts? Batten Disease.

Batten Disease is a neurological degenerative disease.

Daniel was diagnosed with Batten Disease in 1991 he was eleven at the time, just twelve years later he died.
Advances have been made in understanding and diagnosing the disease. Twenty years later there is still no treatment and no cure for this disease. Twenty years ago we were given no hope when Daniel was diagnosed. For one child a week, today that is still true.

BDSRA (Batten Disease Support & Research Association, www.bdsra.org) provides services to children facing this devastating disease and funds research to find a cure. So while you are celebrating this season of giving and hope, love and good will; and while you are celebrating the children young or old in your life, please take a moment to remember there are children today that are hoping and praying for a cure.

Sadly in 2011, 52 more children will be diagnosed with this disease in the US alone. Some children, like our Daniel will lose their battle with this dreadful disease. Please help us change this. We are sharing Daniel’s story with you (www.thebattenproject.com) because he was such a wonderful person, so full of life and because we love him so very much and we miss him every day. We can’t change what happened to Daniel, but we can use this experience to help give other children hope. So please give to BDSRA. Help change the life of a child.