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Why Parents Searching for a Diagnosis Need to Know About Whole Exome Sequencing

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This morning I received an email from a parent whose child was just diagnosed with a KIF1A mutation. The family has suffered through almost 10 years of misdiagnosis, agony and unnecessary (often painful) tests. These parents have been on a decade-long quest for an answer to their son’s degenerative disease.

Not once in 10 years did anybody suggest or prescribe a whole exome sequencing test — until last month. This brave family didn’t even know such a test existed. The test confirmed a mutation in KIF1A. *(Side note: If you aren’t familiar with WES, read my previous post for reference)* Their doctor didn’t know what a KIF1A mutation was and it took a neurologist three weeks to call and report the difficult news. Three weeks of not knowing what their son’s diagnosis meant and 10 years of not having a diagnosis at all.

We can learn a lot from this brave and awesome family. Over the last 10 years they have endured challenges that we now face. These incredible parents can tell us about treatments that helped, medications that worked and much, much more.

Our family is so lucky — for so many reasons. Susannah’s supportive medical team is at the top of our list. These people don’t rest until every family who might benefit from whole exome sequencing gets it. They give families incredible care and counseling filled with compassion and empathy. Our daughter is in the most capable of hands.

Imagine if everybody had access to whole exome sequencing… I believe hundreds of kids would be diagnosed with KIF1A, protocols would be in place, gene therapy would exist and cures would be discovered. We quickly have to identify every person with a KIF1A-related disorder. In doing so I believe we can aide in this discovery and help physicians reverse the implications of variants in the KIF1A gene.

Write to congressmen, senators and lawmakers. Call and tell them how vital increased funding is for clinical research — ask every doctor if they know of any mouse models or KIF1A breakthroughs.

Or just send an email to us. There’s a whole support system of people with kids who have KIF1A. Somebody will definitely give you a hug or a smile. So reach out; there are plenty of people just waiting to give you a high-five.

two young kids standing behind fence at baseball field
Luke’s daughter, Susannah, and son

Our superhero, Susannah, can do anything she wants to. If she decides to be a doctor when she grows up, that’s great. There’s no doubt she has the best role models a kid can have. Perhaps she’ll re-write the Hippocratic Oath, reminding all of society of the importance of whole exome sequencing in the fight to cure rare genetic disorders.

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Originally published: February 8, 2017
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