Emily and Marian, ages 3 and 6 months
All I ever wanted was to be a mom. When I was little, when people asked how many kids I wanted, my answer 13. Naturally, mostly girls. I had names picked out and probably took pretend play a step too far pretending my dolls were my actual babies, strapping them to my body with a make shift chinese jump rope baby carrier, proudly strolling through public places, excitedly whispering to my mom, "do you think people think this is a real baby?" My mom would kindly smile and say, "I think they might."
All I ever wanted was to be a mom. A mom and a teacher. A mom and a doctor (this was short lived when I failed Algebra...twice). A mom and a sociologist. A mom and a lawyer (what I ended up with). Just a mom. The most important thing to me.
I met my wonderful, dashing husband Paul at Loyola Law School Los Angeles. We were in the same law school section, and when I was invited to join a study group via email that included my future husband, I knew one thing immediately: this was a mistaken invitation. And I was correct, they intended to invite another girl who they thought was named Sara, this girl ended up later dropping out of law school - most likely from the crush of not belonging to a study group. Regardless of the known error, I attended the study group and throughout the rest of law school we fell in love and got married.
After law school something alarming happened: we became licensed attorneys. Paul took a job at a large firm representing public entities and I took a job representing kids in the Los Angeles County foster care system. And truth be told, I also worked as a babysitter while waiting for my bar results. After a couple years of work, we decided to start a family. On Valentine's Day 2013 our beautiful daughter Emily was born. In August 2015 we welcomed our lovely little Marian to complete our life as a family of four.
I was delighted. Over the moon. Not to say I didn't complain and stress and let the dishes pile up. But inside in my heart, I could not be happier or more proud of my two girls - and still could not. But I also knew something was wrong. When Marian was born she was so small. I am not small. My husband is a living giant. Emily was 8 lbs. Why was Marian only 5? Her legs were like toothpicks. She was so delicate in our arms, her legs and arms dangling loosely if they weren't being supported. We were reassured many times, "there is a large range of normal and she is well within it." Time marched on.
I will save all the glorious details of our diagnostic journey for another time. For now, suffice it to say, Marian is well within the range of normal and healthy in almost every single way. Every single way except for one gene. Two recessive variants of the same gene out of twenty thousand. The NPC1 gene. And this one tiny invisible gene is slowly but surely going to kill her, unless we can stop it. And that is exactly what we are on a mission to do.
Please check back for future posts with more information about where this journey takes us as a parent, as a family, and as a normal person catapulted into a world of a rare disease, which, not to be overly dramatic, can happen to anyone. We really have no idea what we are doing, but as the girls would say in this picture: beep beep, we are coming through.
