Because parents spend the most time with their children, they are usually the ones to notice if something seems amiss. In some cases, those small signs are indications of a much bigger problem.
“Any parent who suspects something’s not right with their child’s development needs to know that research shows that they’re probably correct in their concerns,” explains Dr. Pauline Filipek, associate professor of pediatrics neurology at the University of California. She also states any parent with concerns “needs to empower themselves to keep knocking on doors until they get the answers they need.”
Rare diseases strike one of every 150 children, meaning there is a high likelihood someone you know is affected. The National Institutes of Health classifies a rare disease as one that has fewer than 200,000 affected individuals in the United States. Currently the list includes about 7,000 identified ailments.
An article on CNN.com featured six children with rare diseases. Their experiences highlight some of the challenges and obstacles families face. One major hurdle for parents with a child who has a rare disease is most physicians won’t recognize it.
In many cases, the only way to diagnose and identify a rare disease is through genetic testing, something most doctors are not equipped to do.
Here are some things parents can watch for to help determine when something serious could be wrong with their child.
Children develop at different rates, but babycenter.com notes there are some signs that indicate a problem. One of the more noticeable symptoms is if your baby seems to be far behind with motor control when compared with other children the same age. Examples are a baby that hasn’t walked by 18 months or a child who, after several months of walking, walks on his toes or still walks unsteadily.
Delayed communication skills
By the time a child is a year old, he should be using interactive communication. He should respond to his name and should be attempting to make sounds like “mama” and “dada.” He or she should also be able to see airplanes or birds and point and follow them with his eyes.
Symptoms like pain, anemia, coughing, dizziness, vision problems, etc. are common to many different illnesses.
“Doctors are trained to look at more common causes of symptoms first, so they may not be thinking along the lines of a rare disease when they examine you,” writes Mary Kugler, a nurse who is a rare disease expert.
Unusual or unexplained symptoms
With rare diseases, many times a patient might exhibit symptoms that don’t fit the classic description of the disease. As a result, doctors are sometimes hesitant to offer a diagnosis. They might use words like “unknown etiology,” or “idiopathic” or “atypical.” All of these usually mean they can’t identify a specific cause.
You’ve seen lots of doctors and the problems persist
On average, rare disease patients visit 10 specialists, are misdiagnosed three times and spend eight years searching for a diagnosis. Kugler describes one mother who typed up several pages explaining what her daughter’s disease is, her medical and surgical history and her current medications. She gives them to doctors when they examine her child for the first time so she doesn’t have to repeat everything over and over.
When to consider genetic testing
Dr. Vinodh Narayanan, medical director of TGen’s Center for Rare Childhood Disorders in Phoenix, says there are many clinical scenarios in which genetic testing is appropriate, varying with age. In newborns (or even before birth) genetic testing is done when there are congenital malformations — heart defects, abnormalities of brain structure, or defect of other organs.
In older children, genetic testing is appropriate when the disorder is likely to have a genetic basis, Narayanan explains. Other settings in which early genetic testing should be done include neurodevelopmental problems, autism, complex multi-system diseases and undiagnosed disorders.
The specific type of genetic testing is based on a clinical evaluation. For parents who have a child with unresolved medical issues, genetic testing is a tool that might be able to provide those elusive answers and give direction in finding a solution.
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with neurological disorders, cancer, and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.