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Rare Disease

Making great progress, strides after deep brain stimulation procedure

August 12, 2021

CHOC patient Ryder at the park

A deep brain stimulation surgery at CHOC has given 9-year-old Ryder and his family an improved quality of life.

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Heart / Cardiology Neurology Rare Disease Dr. Joffre Olaya Dr. Terence Sanger

Leveraging technology to help critically ill children with rare diseases

May 27, 2021

Though facing a rare disease, Oliver and his family found a diagnosis and hope at CHOC through the help of rapid whole-genome sequencing.

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Genetics Metabolics Rare Disease Dr. Adam Schwarz Dr. Jason Knight Dr. John Cleary Dr. Juliette Hunt Dr. Neda Zadeh Dr. Nick Anas Dr. Richard Chang

Batten disease patients make CHOC a destination for kids with rare conditions

April 22, 2021

CHOC is the largest Brineura infusion center in the US to treat Batten disease, a rare neurological condition.

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Metabolics Rare Disease Dr. Joffre Olaya Dr. Raymond Wang Patient Stories Stories

A lifelong battle with a rare disease: Caleb’s story

October 1, 2020

His mother’s keen eye and a pediatrician’s intuition ultimately led to an unexpected diagnosis of MPS Type II.

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Genetics Metabolics Rare Disease Dr. Raymond Wang Dr. Touran Zadeh Patient Stories Popular Stories

CHOC rare disease expert stresses importance of newborn screening

September 4, 2020

The CHOC metabolic laboratory, one of the largest newborn screeners in California, screens babies for serious but treatable genetic disorders.

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Health Metabolics Rare Disease Dr. Jose Abdenur

Physician Tenacity, Experimental Treatment Help Baby With Rare Disease

March 3, 2015

A patient is showing marked improvement after regular infusions of cyclodextrin, a compound that has helped mice with Niemann Pick C disease.

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Metabolics Rare Disease Patient Stories Stories

Resources, Tools for Parents of Children with Rare Diseases

April 29, 2014

Parents often struggle with raising a child with genetic or rare diseases. Learn the rules of parenting and caring for these children.

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Health Metabolics Rare Disease
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1201 W La Veta Ave, Orange, CA 92866 | (714) 997-3000

These articles are not intended to replace the relationship you have with a physician or another healthcare practitioner. For specific medical advice, diagnoses and treatment, please consult your doctor. This website may include links to other websites which provide additional information that is consistent with the intended purpose of this publication. Linking to a non-CHOC site does not constitute an endorsement by CHOC of the sponsors or the information and products presented on the site.