Pediatric Medical Geneticists Look To Genes To Unravel Mystery Illnesses In Children

Monday, 9 Jun 2014, 9:04:00 AM

Special To The Mirror

Linda Randolph, Children’s Hospital Los Angeles Pediatric Medical Geneticist.
Courtesy photo
Linda Randolph, Children’s Hospital Los Angeles Pediatric Medical Geneticist.

Linda Randolph, MD

Children's Hospital Los Angeles Pediatric Medical Geneticist

The genes children inherit determine everything from their height to

their hair color. But sometimes, a child’s genetic code also contains

hidden abnormalities that can cause an array of health issues, such as

developmental delays or physical or mental illness.

As head of the Division of Medical Genetics at Children’s Hospital

Los Angeles (CHLA) and a physician at the Children’s Hospital Los

Angeles-Santa Monica outpatient care center, below is how a medical

geneticist works “like a detective” to diagnose genetic syndromes – and

put children on the path to better health.

What is a medical geneticist?

Many people think geneticists only work in laboratories, but that’s

not true. Medical geneticists like myself see patients just like other

doctors do. Just as a cardiologist treats patients with heart disease, a

medical geneticist is a physician who specializes in diagnosing,

treating and supporting patients with genetic disorders or birth

defects.

How old are your patients?

Medical geneticists see patients of all ages, but here at Children’s

Hospital Los Angeles, we focus on children. Most of our patients are

quite young, including babies, but we see older children and teenagers,

too.

Why would a child need to see a medical geneticist?

Children are typically referred by their pediatrician or another

specialist. They’re referred for all kinds of reasons: failure to

thrive, developmental or speech delays, unusually tall or short stature

or even atypical physical features, such as ear abnormalities, unusual

birthmarks or low muscle tone. It’s our job to see if the underlying

cause of those issues is a genetic disorder.

How do you diagnose a genetic disorder? Is it just a blood test?

If only it were that easy! In reality, we’re a lot like detectives –

painstakingly searching for every possible clue as to what’s causing a

child’s symptoms. It’s challenging; there are literally thousands of

genetic syndromes, and a lot of them can look similar.

That’s why our consultations are quite comprehensive. We take a

detailed patient history, including a prenatal history – medications the

mother took during pregnancy or illnesses she had – and create a

three-generational family tree called a pedigree. We also do a thorough

physical exam. Even small details, such as the size of a child’s hands

and feet, can provide big clues.

Do you do genetic testing?

We often recommend it based on what we uncover during the

consultation. At the end of that appointment, we discuss our findings

with the parents and make recommendations for further testing. That

testing could be genetic testing, an MRI or X-ray, or an eye exam – or a

combination of all those.

Are there downsides to genetic testing?

The tricky thing is that results are sometimes uncertain, or they

include information about genetic irregularities that science doesn’t

yet know how to interpret. That can create anxiety for the family. Our

genetic counselors and physicians spend a lot of time carefully

explaining test results to parents so there are no misunderstandings.

Since most genetic syndromes don’t have a cure, why is it so important to accurately diagnose them?

There may not be a cure, but even in the worst cases, there’s always a

care and treatment plan. There’s always support; there are always

services. Treatments can range from enzyme replacement therapy – which

can be almost as good as a cure for certain conditions – to vitamins to a

special diet to certain therapies.

In addition, one of the biggest benefits is knowing what

complications a child is at risk for either now or down the road,

because of that diagnosis, such as heart or kidney disease.

Some people might say, ‘I’d rather not know.’

It’s always better to know. Knowledge is power. If you know a child

with a given genetic disorder is at risk for kidney problems, then you

can screen for those problems and catch them before they’re too

advanced.

I recently saw a child where I recognized signs of a genetic

condition called Noonan syndrome, and we tested for it. Well, this child

needs heart surgery, and people with Noonan syndrome have a high risk

of surgical complications. If we know that risk in advance, doctors can

take preventive steps to ensure a safe surgery.

That’s what’s rewarding for me as a medical geneticist. A diagnosis

isn’t just a name. It opens the door to giving a child an opportunity

for better health and a better life.

Linda Randolph, MD, is head of CHLA’s Division of Medical Genetics

and a staff physician at Children’s Hospital Los Angeles – Santa

Monica, which is located at 1301 20th St., Ste. 460, Santa Monica. For

appointments, call 310.820.8608. For information, go to www.chla.org/santamonica.

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