FAQ: So, it's genetic?

June 21, 2018

One more FAQ that we get often is "It's genetic?"  Yes.  Batten disease is genetic.  In this case, it is known as autosomal recessive, meaning both Jon and I have to be a carrier of the gene for any of our children to be affected. If you're like me, and have a hard time remembering your high school biology class, here is a handy diagram: 

You get half of your genes from Mom and half from Dad.  Jon and I are both carriers for CLN3 Batten Disease.  So, we have one good CLN3 gene, and one bad CLN3 gene.  But, because we still have one good CLN3 gene, our bodies function as they should because they rely on the backup copy- the good gene.  In the case of CLN3 Batten Disease, Jon and I are each actually missing one CLN3 gene, or at least part of it.  (If you want more technical details, google is your friend.)  This means that each of our children has a 25% chance of being affected (Cecilia & Lilly), a 50% chance of being a carrier (Ruthie and Zelie), and a 25% chance of being unaffected (Nora).  I'd say that we've hit the statistics pretty fairly, unfortunately.  

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