CHOC at Forefront of Treating Rare Genetic Condition

Just two weeks after losing their 6-year-old son to a rare and fatal genetic brain condition, Bekah and Danny Bowman began the first of many cross-country trips with their 3-year-old son in hopes that a new treatment would spare the younger boy from the same fate as his brother.

Ely was diagnosed with CLN2 disease, also known as late infantile Batten disease, shortly after his older brother, Titus, was found to have the same condition following nearly two years of symptoms. Batten disease typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.

Beginning to show a speech delay, Ely would travel with his parents from Orange County to Columbus, Ohio, every 10 days to participate in a clinical trial wherein he would receive an infusion of a medicine that researchers believed would slow the disease’s progression.

But now, the Bowmans need only to drive a few miles to CHOC Children’s Hospital for this critical treatment. CHOC has become one of the first hospitals in the United States to offer Brineura, which the U.S. Food and Drug Administration approved in April as the first and only treatment for Batten disease.

ely-bowman-choc-batten-disease
Ely at CHOC for Batten disease treatment.

Over a three-year period, patients like Ely who were treated during the clinical trials showed no progression of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.

CHOC has been fast tracked to provide this novel new therapy commercially, which requires making a reservoir in the brain to give an infusion every two weeks.

Brineura’s availability at CHOC is also a game changer for Maya James.

Diagnosed with an atypical form of Batten disease about four years ago, the 14-year-old had also been traveling regularly to Ohio to participate in the clinical trial.

While the medicine has been shown to slow the progression of Batten’s devastating consequences, Suzette, Maya’s mother, says the treatments have helped her daughter improve her balance and walking. Maya continues to ride a bicycle and rock climb.

The treatment has given the James family hope.

“We’re so thankful to have this opportunity,” Suzette says. “Before, we had nothing. We only had, ‘Your child is going to die and we can’t tell you when. And she’s going to lose every function she has and we can’t tell you when.’ It’s truly groundbreaking what CHOC is bringing for patients with neurological conditions. This is an opportunity for people with other similar diseases to have hope.”

Maggie Morales was preparing to bring her daughter Mia to Ohio for treatment when she got a call from CHOC about Brineura’s availability.

Now, Mia, 5, has completed more than six infusions of the medicine, and her family has found a sliver of light following a devastating diagnosis last year.

batten-disease-treatment-choc
Mia receiving treatment for Batten disease at CHOC.

“It’s amazing that there’s treatment because when we first got the diagnosis, there was nothing to do but take your child home and wait for it to happen,” Maggie says. “Hopefully along the way, a cure comes along. “

Bringing Brineura to CHOC is the product of three years of work by Dr. Raymond Wang, a metabolic specialist who treats Ely, Maya and Mia.

Dr. Wang works closely with neurosurgeon Dr. Joffre Olaya to administer the medicine. Each patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into their brains.

In a sterile procedure every 14 days, Dr. Olaya and a team of highly trained nurses insert a needle into the reservoir to administer the medication. The infusion lasts four hours, and after four hours of observation, the patients can go home.

“This is huge,” Dr. Wang says. “You’re taking a progressive and fatal disease and stopping it. Having seen how heartbreaking it is for families to see the child they know get slowly robbed from them, the fact that we can offer these families hope, is tremendous. Something like this is the very reason I went into medicine and specialized in metabolic disorders: to provide hope to families affected by rare disorders such as late infantile Batten disease.”

As he receives his infusion, Ely wears medical scrubs with “Dr. Ely” embroidered across the chest and watches videos on an iPad. Flashing across the tablet’s screen are home movies of Ely as a toddler playing with his late older brother.

The Bowman family will never get back those days, but this life-saving treatment at CHOC is an opportunity to halt a disease that has ravaged their family.

“For Ely to be home and have consistency and we can still have some fun is wonderful,” Bekah says. “We can see him thriving.”

Learn more about metabolic disorders treatment at CHOC

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What We’re Thankful for This Year: 2016

In celebration of Thanksgiving, members of the CHOC Children’s family express what they’re most grateful for this year.

thanksgiving at chocMary Green 

Registered nurse in the Hyundai Cancer Institute at CHOC Children’s

“I could list 100 reasons why I am thankful for CHOC. I’m thankful to work at a place with such visible growth: in the number of available treatments, in the percentage of children that are surviving cancer, in relationships between patients, family members and staff; and growth visible in children as they begin to believe how strong they truly are. Even more so, I am thankful that CHOC is passionate about celebrating growth and takes pride in celebrating all of the little things.”

thanksgiving at chocDr. Joanne Starr

Medical director, cardiothoracic surgery

“I’m grateful to be part of an innovative pediatric hospital and for CHOC’s commitment to providing patients and families with access to the best neonatal and open-heart surgery in Orange County.”

thanksgiving at chocDana Sperling

Social worker, NICU

“I am thankful for two amazing teams I am privileged to be a part of:  the social services team and the Neonatal Intensive  Care Unit (NICU) team.  The compassion and dedication of both teams makes me proud to work along side them day after day, delivering outstanding care to patients and families.”

 

thanksgiving at chocDr. Kenneth Grant

Chair of gastroenterology 

“I am thankful to be working for an organization that creates an environment where our patients become our family. I am also grateful that CHOC Children’s has the foresight to invest in the innovative ideas we have to improve the health care we provide. ”

thanksgiving at chocDr. David Gibbs

Medical director of trauma services

“I am thankful for the trust of our patients and families. With the strong support of the hospital and the community, our Level 2 Trauma Center is proud to care for children in Orange County.”

thanksgiving at chocJoani Stocker

Volunteer

“I am so thankful for the opportunity to bring smiles and laughter to our patients through Turtle Talk and the playrooms. Laughter is medicine to the bones, and I am humbled to be a part of the healing. My cup is overflowing with joy when I see a patient giggle and play.”

thanksgiving at chocDr. Daniel Mackey

CHOC Children’s pediatrician

“I am thankful for the opportunity to be partnered with an excellent children’s hospital. I am also thankful for the pleasure of working with other positive people who provide outstanding care to the children of Orange County. Together we work to improve the care and services we deliver to our most important resource…our children.”

thanksgiving at chocDr. Gary Goodman

Medical director of the Pediatric Intensive Care Unit, CHOC Children’s at Mission Hospital

I am most grateful to the people behind the scenes at the hospital that do all the invisible jobs that are so important to keep CHOC Children’s running: the housekeepers, lab and x-ray technologists, bio-medical engineers, pharmacy technicians, scrub technicians, security guards and maintenance staff that work tirelessly, 24-hours a day.”

thanksgiving at choc

Dr. Raymond Wang

Metabolic disorders specialist

“I am thankful that CHOC cares for families and children with rare disorders by supporting clinical trials and translational research, and the staff who care for these families, to find treatments and cures for their conditions.”

thanksgiving at chocEric Mammen

Lead music therapist

“I am grateful that I get to witness the transformative powers of music with amazing patients and families everyday here at CHOC. So very grateful for the generous donors that continue to support our growing music therapy program. Without them we would not be able to impact the families and help them face incredible challenges with courage, smiles, and a song. Super grateful to be apart of writing a powerful song with a patient in response to his medical diagnosis- “To Life Live To The Fullest!” Happy Thanksgiving and I hope you get to spend some extra time with your loved ones around you.”

Matt Gerlachwhat choc is thankful for

Executive vice president and chief operating officer

“At this time of Thanksgiving, I am thankful for CHOC Children’s and the wonderful service we are privileged to provide for the communities we serve. I am thankful for the dedication and commitment of our physicians, associates and volunteers, who give the very best they have to give— their knowledge, skills, abilities, care and compassion— to make CHOC’s mission to nurture, advance and protect the health and well-being of children a reality for so many in need, every day. I am also thankful for those that stand behind our physicians, associates and volunteers— their loved ones, who support our CHOC Children’s team to be the best that they can be, both at work and at home. I wish all of our CHOC Children’s family a happy and healthy Thanksgiving.”

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