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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Investing in Care

Stephen and Cynthia Fry of Newport Coast are longtime philanthropists in Orange County who were introduced to CHOC Children’s three years ago when their young granddaughter was diagnosed with a rare and deadly genetic disease.

annual-report-2013-investing-in-care-2Charlotte Jordan went undiagnosed by several physicians until age 3½, when CHOC specialists in the division of metabolic disorders diagnosed her with glycogen storage disease 1a (GSD). This disease results in Charlotte’s liver being able to soak up and store glucose, but not release it effectively. Without treatment, the abnormally low content of glucose in her blood (hypoglycemia, commonly referred to as low blood sugar ) can lead to life-threatening complications.  Her very rare disorder requires around-the-clock maintenance, including regular visits with Charlotte’s doctor, Richard Chang, M.D., and his team.

Through this experience, Charlotte’s family was inspired to give back to Dr. Chang and the division of metabolic disorders as a special way of saying “thank you,” making CHOC one of the family’s annual philanthropic priorities.  “The entire team does their job with such grace and care that it’s almost overwhelming,” says Lindsay Jordan, Charlotte’s mother. “It’s a difficult disease. I don’t know how any parent who has a child with a serious illness can get through it without having someone like Dr. Chang in their corner.”

Metabolic disorders are an area of medicine that receive relatively little funding because the disorders are so rare. “The Fry family’s generous giving helps pay for a full-time nurse practitioner to educate CHOC staff members about metabolic disorders,” says Dr. Chang.  “A gift like this allows CHOC to truly care for kids in ways that otherwise wouldn’t be possible.”

No case too rare

Doctors on CHOC’s metabolic disorders team spend hours steeped in research and commonly see patients for whom there is no immediate diagnosis.

“It takes a lot of training to be a specialist in this area,” Dr. Chang says. “Many of the patients we treat have conditions so rare that they are among only a handful of patients worldwide to have that specific disorder.”  Dr. Chang and the metabolic team see about 45 children a week on an outpatient basis. At the same time, they care for five to 10 patients admitted to CHOC who are being assessed or treated for rare metabolic disorders. Such patients, he says, typically require care their entire lives.  Charlotte, now 6 ½, has to be extremely careful about what she eats and because of her enlarged liver can’t participate in contact sports. Every three to four hours, she receives three to four tablespoons of raw corn starch which slowly releases the glucose her body needs without overtaxing her liver.

“Charlotte is thriving, happy and healthy as we can hope for, and that makes my husband and me, as well as my parents, very grateful,” Jordan says. “We’re lucky to have Dr. Chang and the entire metabolic team in our lives.”  This past year, in addition to making their annual donation supporting the division of metabolic disorders, the Fry family gave an additional, and unexpected, $1 million to help build the Bill Holmes Tower and name the admitting reception space that is located on the first floor of the new building. The family wanted the leadership donation to make a significant impact at CHOC and help expand the hospital—a place filled with very special people who have become like family to Charlotte.

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