Sleuthing Medical Mysteries: Genetic Testing
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Sleuthing Medical Mysteries: Genetic Testing

– Imagine having a healthy
child who falls ill and you have no idea why,
even after seeking out many different medical opinions. Kristen and Clayton
were parents struggling to find answers. Doctor Freda Lewis-Hall,
the Chief Medical Officer of Pfizer, sat down
with them to learn more about their medical mystery. – What was the first thing you noticed, something might be wrong with Cara? – Around 15 months old,
she had uncontrollable eye movements, she was walking wobbly, and she started having problems with her arms looking weak. – We had two stays in the hospital. They ran, what seemed like to us to be, every test that they had, but none of them really nailed exactly what was going on. – Pretty quickly, over
the following months, she lost her ability to walk, her arms were pretty much paralyzed, she was unable to hold her head up completely straight. We saw drooling, some
problems with swallowing. Everyday we woke up and
there was something new that it seemed like she had lost. She was rapidly deteriorating, but we didn’t have any answers. – What happened next? – We were approached by a team of doctors who said that they thought that we should discuss getting
some genetic testing done. But because we both were healthy and Cara was born seemingly healthy, why are we talking about genetics? Because we just don’t think
that this is something that’s caused by a genetic problem. – And what did you find
out after they completed the testing? – They discovered that she had a really rare genetic disorder. They told us “This is her diagnosis “and we have a treatment
we want to offer her.” – And how’s Cara doing now? – If you didn’t know, you might see her on the playground, and if you didn’t see us chasing behind her to make
sure that she was okay, you would see her using her arms, playing. – She’s had permanent hearing loss, permanent vision loss, and she still does have some times that she
falls and is unsteady and some muscle weakness, but overall, is doing much better. – [Dr. Lewis-Hall] What is it that you would want people to know? – Most of the children
who have this disorder, a lot of them are in
wheelchairs, a lot of them are profoundly deaf and completely blind. And that’s because they
went months or years longer than Cara did before they
had genetic testing done, and before they were diagnosed. I think genetic testing
is usually approached as a test of last resort. I just think about all the children who, if they had maybe had
genetic testing done sooner, how much better off would they be now? – Well, thank you for sharing your story and your time with us. – Thank you.
– Of course. (audience clapping) – Doctor Freda Lewis-Hall,
the Chief Medical Officer of Pfizer, is here today. Welcome back and–
– Thank you. – The one thing I would say about Cara is she looks happy and you
all may have realized watching that, Cara has a progressive neuromuscular disorder, it’s caused by a vitamin deficiency. And her condition is rare, which is why it was so difficult to get
it diagnosed correctly. – And you know, that’s right, but while Cara’s disease affects less than 100 people worldwide, there are many, many rare diseases. If you add them all up, they
affect nearly 30 million people in the U.S. alone. – A genetic mutation can be
passed down from a parent or from both parents,
but many rare diseases are genetic mutations
that arise spontaneously, even if the parents
are completely healthy. Now, our DNA, we’re gonna
do a little lesson here, identified by four
letters: A, T, C, and G, these are then arranged
in specific sequences. If one of these DNA letters
is switched or missing, a genetic mutation can
then occur in your child. – And that’s where
genetic testing comes in. Now these tests can be used to detect a genetic disease in an unborn baby or it can be used to see if a parent has a gene for a disease that they may pass on to their children. – [Male Host] And I
will say in Cara’s case, genetic tests can be used to
diagnose a very rare disease. In other cases, they can
test for genetic mutations before they even cause
symptoms, which is a good thing. – Absolutely. And I really want to
amplify the point, though, that Cara’s family made,
which is genetic testing is not a cure. But it can open the door
to an accurate diagnosis that then helps you find
potential treatments, as they did in Cara’s case,
and we are so thankful for that. There’s so much to know
about genetic testing. You can go to get and there, there’s lots of information, and there’s also exclusive footage of the amazing interview
that I got to do with this incredible little
girl and her family. – It was so cool to see her running around the playground with a
big smile on her face. – Oh and she was–
– That’s what it’s all about right there – She was just a little dynamo and the footage is just heartwarming and very informative. – Well Doctor Freda, thanks so much for sharing her story with us. – Thank you.

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