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Family bravely copes with daughter living with 'little ticking time bombs'
Dawn Brazell | MUSC News Center | Dec. 4, 2015


Tori Baruchi
Sarah Pack

 
Tori Baruchi hopes one day to become a researcher and find a cure for the genetic disorder, NF2, that she has.  View photo gallery 

The only way to describe it is to compare it to living with “little ticking time bombs.”

That’s the image shared by Donna Baruchi about what it’s like watching her daughter Tori suffer from a disease that causes tumors – that can occur anytime, anywhere, even in multiples – to grow in the nervous system.

Tori, a vivacious 13-year-old girl who loves tap dancing and writing, has a genetic disorder called NF2 or neurofibromatosis type 2.

“As my husband puts it, ‘we live our life between MRIs,' which is a horrible way. If we come out with a good scan, it’s like yeah, now for three months we can just go and have fun and relax until the next one. I always feel like I’m holding my breath between them and hoping that we’re not going to get bad news.”

As she speaks, Donna is sitting in the waiting room at the Medical University of South Carolina with her other two children as her husband and daughter go in for a checkup. Afterwards, the Myrtle Beach family will do something special for a treat. They make sure that the medical visits do not become the focus of family life.

NF genetic disorder
Photo Provided
 
The Baruchi family, pictured left to right: Margalit, Abe, Benjamin, Donna and Tori     

“She has five tumors in her brain. I could be wrong. It could be six,” her mother said. That might sound strange that she doesn’t know the exact number, except that her daughter’s condition can change rapidly.

“In the beginning, they called it hamartoma, and then they found she has two more in the deeper part of the brain. They all are classified as something different,” she said, reeling off medical terms as a doctor would.

The tumor she is worried about is called a schwannoma. “This one they are really keeping an eye on because it’s compressing her spinal cord. It’s wrapped around one of the arteries leading up to the brain. That’s a tricky tumor.”

They can do surgery on the tumors, but they are likely to grow back, and in some cases, more aggressively. Sometimes tumors occur on the auditory nerves in the brain. Because the nerves are so tightly packed together in this region, they grow like grapes. “To get the whole thing out, they might have to cut a nerve, which could cause hearing loss or facial nerve loss or both.”

The family does what it can to keep Tori’s mind off the possibilities. She and her siblings attend Camp Rise Above, a non-profit organization that helps children with serious illnesses and challenges. Tori recently spoke on behalf of Camp Rise Above’s fundraiser and did a great job, her mom said. “We’re so proud of her.”

They aren’t the only ones.

Amy-Lee Bredlau, M.D., director of MUSC’s Pediatric Brain Tumor Program, describes the family and Tori as wonderful. “Tori is delightful. She intends to be my partner when she is done with her training in the pediatric neuro-oncology program here in Charleston. She’s been telling me this for years. She’s just a gem. She’s a tough little girl with a heart of gold.”

Finding a cure

Tori admits that having NF2 scares her. She focuses on continuing to fight in hopes of living to be part of the cure. It’s why she wants to be able to work with Bredlau one day to find a cure. The worst part of her condition is waiting for test results, she said. She still suffers from headaches, and her condition affects her vision and hearing at times. She tries to focus on what she loves – dancing, writing, singing and music.

Bredlau said her heart goes out to these families, who carry such a heavy burden. Because Tori’s condition is genetic, there are reproductive concerns. Beyond that, there’s the constant worry of how aggressive the tumors will be, even in childhood. “Many patients with the types of tumors that Tori has ended up with tumors in their spine and neck, which can be life-threatening. It’s classic that they can end up with tumors in both ears, so they can lose hearing completely. It’s a very significant and devastating diagnosis.”

NF tumor - Dr. Bredlau
Sarah Pack
 
Benjamin and Tori Baruchi show Dr. Amy-Lee Bredlau pictures of the family pet at Tori's doctor's appointment at MUSC.
 
 

Patients tend to get multiple tumors regardless of whether doctors do surgery, chemotherapy or radiation therapy. “Radiation therapy, which is sometimes the only treatment we have to offer, can increase the aggressive behavior of a recurring tumor.”

Because these are ‘orphan diseases,’ researchers are limited in the amount of funding they receive to accelerate discoveries to help treat these children. Bredlau praises the efforts of Steven Carroll, professor and chairman of the Department of Pathology and Laboratory Medicine, for his work in establishing a national biobanking research repository

“Any dedicated effort, such as what Dr. Carroll is doing, would be greatly appreciated.”

In the meantime, the Baruchi family remains hopeful for new developments. Donna said her daughter has a mosaic mutation that isn’t supposed to be as aggressive, but hers is.

“That’s the thing with NF patients. They are all different,” Donna said. “They react differently to treatments, and they can have multiple tumors and no problems or no tumors and all sorts of medical complications. Most of the tumors are benign but when they go in and do treatments, it can change the cell patterns and the tumor, and they can become malignant.”

She wishes medical professionals had more knowledge about the conditions and that there would be more funding for research. Tori was born with a "lazy eye" or amblyopia and several small fleshy growths on her scalp and back, which appeared to resemble moles. Tori began to see a pediatric ophthalmologist at 3 months, and he noted a macular scar on the left retina.  At 18 months old she started having seizures and CAT scans revealed inoperable tumors that her parents were told to watch.

NF research
Sarah Pack
 
Dr. Steven Carroll, who has helped set up a national biobanking repository dedicated to NF research, studies an NF tissue sample.  

After concerns about headaches and changes in Tori's retinal scar tissue, a retinal specialist ordered an MRI that revealed she had tumors that are the indicators for NF type 2, Donna said. That was the summer of 2013, and Tori had genetic tests run to confirm the diagnosis.

“Dr. (Stephen) Kinsman is Tori's neurologist, and he is the doctor who helped to piece this puzzle together and put Tori's team of doctors together. We absolutely love him,” she said, explaining that Bredlau heads up Tori's team and helps them to make decisions about Tori’s care. “We are so grateful to have her helping us to understand what is going on and what treatments are available and best for Tori. But we’re even more grateful that she understands what Tori has been through and that she really cares.”

Her advice to other parents is if a child has a lazy eye, as Tori did at birth, to request an MRI. It took a while before Tori received the right diagnosis, which is not an unusual path for NF families to follow. Her other advice is to connect with a hospital with the expertise to treat it.

“Otherwise you’re just running from doctor to clinic to doctor.”

Raising awareness about NF

Whenever the Baruchi family talk about Tori’s condition, they know they’ll have to explain it. It’s been their family’s experience that few people know anything about any of the types.  NF1 is the most common and occurs in 1 in 3,000 to 4,000 children.  NF2 is considered rare and is found in 1 in 25,000 people worldwide. Schwannomatosis is the third type and is found in 1 in 40,000 people worldwide.  Each type is caused by different genes located in different chromosomes.

With the three types combined, neurofibromatoses affect more than 2 million people worldwide, making NF disorders more prevalent than other leading genetic disorders, she said.


Photo Provided
 
Tori admits having NF2 is scary, but she focuses on what she loves to do in life including dancing, writing, singing and music. 

“You see the people who have the growths on their skin. That’s NF1. They have just as many problems, but they are different. With Tori, you’d look at her and never know she has five tumors. When they start having all these multiple surgeries, then they start to suffer because your body is not meant to have all these surgeries.”

The family has held off on having surgery because once that starts, it can have a snowball effect, she said. For now, Tori is on a medication to suppress tumor growth.  

“It’s scary to do it. It really is,” Donna said of the prospect of surgery. “Once they take a tumor out, it can grow right back. You try to have hope that there’s going to be something around the bend – a cure,” she said. To get through it all, they draw on their faith.

Given the statistics, it is of dire importance to educate anyone who will listen, she said.

“I want them to know that it can take away the patient's vision, hearing and can cause total paralysis.  I want them to know that it is a lifelong battle for as long as God grants the gift of life -- that there are endless trials with cancer drugs, endless surgeries because the tumors can and do grow back, and finally I want them to know that it can happen to anybody even though it is considered genetic.”

In Tori’s case, her condition is called spontaneous change mutation, one of the ways NF can occur, where neither parent has the disease, but the child is born with it, she said.

“Tori just so happened to be born with that unlucky gene, but also the will to live and enjoy life to the fullest. It is a true battle, and we need to find a cure and some skilled warriors to help.”

“We have a moral obligation to be involved with these broader efforts that will affect more than the health of one person.”

 

 

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Resources >>

Dr. Steven L. Carroll

Response Evaluation in neurofibromatosis and schwannomatosis

NIH Neurofibromatosis Information page

Children’s Tumor Foundation

Department of
Pathology and Laboratory Medicine

MUSC News Center archives

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