Resources, Tools for Parents of Children with Rare Diseases

Resources_Rare_DiseasesParents often struggle with navigating how to raise a child with rare or genetic diseases. CHOC Children’s provides multiple channels of support including family-centered care, which empowers parents to become as educated as possible on their child’s condition.

To help on that front, the Global Genes Project – an Alieso Viejo-based organization whose mission is to support, advocate and educate patients and parents of those with rare and genetic illnesses – recently published a series of unique “toolkits” that lay out some previously unwritten rules for patients and caregivers.

The kits cover a variety of topics that can help parents of children with rare diseases:

Parenting a Child with a Life-Limiting Illness: This toolkit gives advice in multiple formats like video, parent-to-parent stories and resources for challenges like caring for the sibling of a sick child, maintaining a marriage through the course of a child’s illness, involving extended family and friends, and understanding medical equipment.

Bringing Rare Disease to Capitol Hill, Advocating for Your Cause: With so many regulations in constant motion, it’s important for parents to do their part in advocating for rare disease support and studies. This toolkit outlines how congress works to produce bills and laws and change regulations in the United States.

Starting a Non-Profit, The First Steps: Some parents may even go as far as wanting to start their own non-profit organization to help make waves for a particular illness. This kit gives readers the main idea of what a non-profit is, what it can accomplish and how it’s formed.

These kits, and others, can be found online at www.globalgenes.org/toolkits.

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5 Facts You Probably Didn’t Know About Rare Diseases

5_things_rare_diseasesImagine waiting for years to learn what is ailing your sick child, only to receive a diagnosis that you’ve never heard of. That’s often the plight of a parent of a child with a rare disease.

CHOC Children’s works to diagnose, treat and support patients and families with rare conditions. Here are some facts on rare diseases:

  •  In the United States, a condition is considered “rare” it affects fewer than 200,000 persons.
  • If all people with rare diseases lived in one country, it would be the world’s third most populous country.
  • Approximately 50 percent of patients affected by rare diseases are children and 30 percent of these children will not live to see their fifth birthday.
  • 95 percent of rare diseases have no Food and Drug Administration-approved drug treatment.
  • Many pediatric cancers make the list of rare diseases.

But despite these statistics, patients with rare diseases and their families are most certainly not alone – and there is hope.

In addition to finding support from CHOC, they can also lean on The Global Genes Project, an advocacy organization based in Aliso Viejo. The group helps parents and patients through their diagnostic odyssey and supports them through their rare disease treatment.

The best defense against the progression of rare disease is knowledge, support and medical facilities with a strong eye towards innovative technologies and treatments.

Learn more about The Global Gene Project, and find resources and more information about rare diseases.

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Global Event Supports Patients with Rare Diseases

Today is World Rare Disease Day, and The Global Genes Project, an Orange County-based advocacy group, explain the day’s significance and how you can participate.

Raising a child with a rare disease can be incredibly difficult. Besides a rare disease’s physical and economic impact on a patient and their family, a sense of isolation and hopelessness often comes with heaWorld_Rare_Disease_Day_jeansring an unfamiliar diagnosis. Being enveloped in the community of patients and parents can be the right choice for many.

A world-class children’s hospital and advocacy organization can help with treatment and coping. Luckily, Orange County residents have both right in their back yard.

Based in Aliso Viejo, The Global Gene Project’s mission is to eliminate the challenges of rare diseases by equipping patients to become successful advocates, and through education and empowerment, become activists for their disease. Global Genes unites experts, advocates and patients of all ages to stand together in hope for treatments and cures for the estimated 7,000 rare and genetic diseases that affect approximately 30 million Americans and more than 250 million people worldwide.

Support, awareness and understanding must be priorities. That’s why The Global Genes Project, as well as multiple support groups, nonprofit organizations and patient-based registries have come together each year to raise awareness for the rare disease community as a whole. This event, World Rare Disease Day, takes place on the last day of February each year and is recognized globally.

Today, schools and healthcare providers will celebrate worldwide through special lessons, webinars and educational series, and informational panels.

For you, participating in World Rare Disease Day is as easy as putting on your favorite pair of jeans. In 2010, the Global Gene Project launched the “Wear That You Care” campaign, wherein supporters wear denim and a special ribbon to show support for those affected by rare diseases.

Learn more about The Global Gene Project, and find resources and more information about rare diseases.

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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 Children’s, 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 Children’s 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 Children’s 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 Children’s.

“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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