One in 10 Million

Two months after their son Ricky was born on Dec. 6, 2012, Richard Alcedo and his wife, Wendy, noticed he was getting small bumps on his face.

They took him to several doctors until a dermatologist did a skin test, diagnosing him with JXG (juvenile xanthogranuloma), an extremely rare disease that even in its common form affects only one in 1 million children, typically those 10 or younger.

One physician they consulted gave Alcedo a puzzled look after examining Ricky.

“This is new,” she said, reaching for her iPhone to look up information on the illness afflicting Ricky.

Alcedo knew that moment that he needed to take Ricky to another hospital—one with specialists highly trained in diagnosing and treating rare diseases like JXG, which acts like a cancer and responds to chemotherapy but technically is not a cancer.

“We ended up at CHOC where they had specialists who understood Ricky’s diagnosis,“ said Alcedo,“ and we knew immediately Ricky was in the right hands.”annual-report-2013-one-in-ten-million

Recognizing the rarest cases

Lilibeth Torno, M.D., clinical director of outpatient services and head of ambulatory care services at The Hyundai Cancer Institute at CHOC, examined Ricky.

She observed the brownish rash on his face and his distended stomach, confirmed that his liver and spleen were enlarged, and ordered MRI and ultrasound tests— something no other physician had done before.

The tests confirmed that Ricky not only had JXG, but systemic JXG—a rare form of the disease that afflicts only one in 10 million children. Dr. Torno started Ricky on mild chemotherapy.

JXG belongs to a group of illnesses called histiocytoses, which are associated with an excess of white blood cells that are supposed to fight infections, but for unknown reasons cluster together, forming bumps or lesions that attack different organs.

In systemic JXG, lesions are present in multiple organs.  Without proper treatment, the disease is fatal.

A team in search of a cure

Dr. Torno is one of 10 physicians at the Cancer Institute who are immersed in such cutting-edge research as molecular and genetic profiling to find out what triggers such diseases as JXG—and what can be done to cure them.

“CHOC is best equipped to treat such a disease,” Dr. Torno said. “Our goal is to be able to do genetic and molecular profiling of patients to help us understand eventually how these things happen.”

The institute sees close to 200 new patients a year, and many of its specialists are disease specific—for example, doctors assigned to a team for leukemia, and a team for brain tumors. The outpatient clinic provides comprehensive care for children undergoing chemotherapy, as well as those who have completed therapy.

Spreading the word

Dr. Torno says that Ricky is responding well to chemotherapy, which will continue through May 2014.  Then he will be reassessed.  JXG lesions sometimes can turn into tumors.

Although he and his family live just beyond the Orange County border, Alcedo had never heard of CHOC until Ricky’s godmother suggested he be treated there. Now Alcedo is determined to spread the word about the great care Ricky continues to receive.

To that end, the Alcedo family and Ricky participated in CHOC’s annual Walk in the Park at the Disneyland Resort.   Their goal was to raise $10,000.

The Alcedo family is enjoying Ricky—and resting a little easier knowing he’s in the expert hands of top specialists at CHOC.

“He’s a happy baby,” Alcedo says.  “He’s always smiling. The nurses have commented that they can’t believe he’s sick because he’s always smiling and happy.

“We are truly grateful for CHOC and everything they have done for us. Not only are they treating our son, but they are giving us peace of mind knowing that Ricky is in capable hands.”

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CHOC Teen Shares Her Positive Take On Beating Cancer

In honor of National Young Adult Cancer Awareness Week (April 2-8), CHOC Children’s patient, Kenia Gonzalez, shares her story of how she coped with her diagnosis and went on to beat cancer. She wants young cancer patients to know “you are never alone!” 

Kenia, pictured outside of CHOC Hospital, was recently interviewed for the “OMG! Cancer Summit,” a special oncology conference for the young adult cancer movement.

My name is Kenia Gonzalez and I am nineteen years old. I was first diagnosed with ovarian cancer when I was seventeen. I was a senior at Century High School, a straight-A student who was involved in different activities, including captain of the volleyball team, when I found out my life was going to change completely.

I remember having a meeting with my parents and my doctor about what I was diagnosed with and what was going to happen next. At first, I felt overwhelmed by my whole situation since everything was happening so fast. It was a lot to take in because I was told about chemotherapy and its effects, and the limitations that I was going to have.

Getting diagnosed with ovarian cancer was not only tough for me to take in but I felt it was also very hard for my family – especially my parents. My parents are very strong people and I know they tried to be stronger for me. What motivated me to fight and not give up, were my parents because I knew I had to stay strong not only for myself but also for them. I was not going to let this disease defeat me and what helped me keep a positive attitude was the fact that I knew that I had complete support from my family, friends, classmates, and teachers. Most importantly, I knew my family was behind me every step of the way.

I feel completely blessed with all the support I received and I am proud to say I have been cancer free for two years. I am now attending college, working, and enjoying the opportunity I was given. I understand that not everyone who is unfortunately diagnosed with any type of cancer has the same reaction, but I just want to say to anyone who is having difficulties, to never give up and always keep trying, especially if it is something as valuable as their life, and to know that they are never alone.

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