By Luke Rosen
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 ten 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 the 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 ten years of not having a diagnosis at all.
We can learn a lot from this brave and awesome family. Over the last ten years they have endured the very challenges 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 person 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. 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 child with a mutation in KIF1A. By increasing the number of diagnosed patients we will help physicians reverse the implications of this rare genetic anomaly.
Write to congressmen, senators and lawmakers. Call and tell them how vital increased funding for clinical research is — ask every doctor if they know of mouse models biological breakthroughs.
Or just send an email to us. There’s a whole support system of people with KIF1A kids. Somebody will definitely give you a hug or a smile. At the end of the day, hugs and smiles are better than any medication or wheelchair. So reach out; there are plenty of people just waiting to give you a high-five.
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. Just to be on the safe side though — perhaps before graduation she’ll re-write the Hippocratic Oath, reminding all of medicine that Whole Exome Sequencing is essential in the fight to cure rare genetic disorders.
She’ll convince people; Susannah’s writing will be far more eloquent than my scribble. After all, she’s a superhero.