Imagine that you are a parent to the cutest toddler who means the world to you. All your attention and the heart tends to, is the child. Every meal, every diaper change and every new gesture learned by the infant is your business. The bliss of seeing your baby’s progress is what keeps you going through the ordeal of raising a child.
Now imagine that you start to see regression, your child who recently learned to stand is unable to do that. The horror! Slowly your toddler loses the ability to even hold stuff in his or her hands. The condition is progressive and doctors have no idea what’s happening. Ultimately, the cruel thoughts of inevitable death strike you.
That’s the story of Cara’s parents, Clayton Greene and Kristen. Luckily, their story does not end in the same tone and has a twist. The two, in the search for a cure for their daughter Cara Greene’s degenerative condition, finally met Doctor David Goldstein. David, who’s now the director of the Institute for Genomic Medicine at Columbia University, is a human geneticist.
David was able to use precision medicine and halt Cara’s symptoms from worsening. In fact, the simple treatment even helped Cara to regain her skills of walking and running. The treatment was a simple supplement of vitamin B2.
So what proved to be the savior in this case? Genetic testing. Without it precision medicine would simply not be possible. Due to technological advances in DNA sequencing techniques, Dr Goldstein was able to perform the test which pointed out exactly what was wrong in Cara’s system.
However, when praising DNA testing the doctor was cautious and reported: “Being able to diagnose a genetic disease doesn’t always mean we’re able to use what we know to treat or cure the patient, so this case was unusual.” Knowing the origin of a disorder is certainly the first step, but thankfully in this case that knowledge certainly was power.