Once upon a time...

Welcome to a sorta fairy tale blog. Last year we were blessed with our very own special princess, our daughter Lillie Eva – also known as Lillie-kins, Lilliputian, Lil’ bug and many other terms of adorableness. We’d like to use this blog to tell you about her and all the special people that help care for her and help her stay healthy, happy and learning every day.

Lillie’s story starts small – with tiny little genes. Along with her curly hair, she got a chromosomal anomaly from her Mom, Carrie. Carrie has what’s called a reciprocal translocation of chromosomes. This means pieces of two different chromosomes have changed places and the pieces have become attached to the other chromosome. Surprisingly, this kind of ‘balanced’ translocation, where there isn’t any loss or gain of chromosome material, is the most common and affects about 1 in every 900 people. Most of these people, like Carrie, don’t even know they have a translocation until they start a family.

When someone with a translocation like Carrie’s has a baby, there are several possible outcomes – normal chromosomes, another balanced chromosome translocation or an unbalanced translocation, which is what Lillie was born with. Specifically, Lillie has a duplication of part of chromosome number 2 and a deletion of part of number 21.

As we’ve learned, chromosomal anomalies are fairly common and can cause everything from issues like color blindness, diseases like Sickle-cell and complicated conditions like Down syndrome. Lillie’s chromosomal anomaly is so rare that we don’t know all of the ways it will affect her long term, but we have learned a lot about her – and from her – in the last 13-months.

Lillie’s major challenges (besides having goofy parents who are learning on the job as co-captains of Team Lillie) are difficulty feeding, low vision, trouble with balance, developmental delays and seizures. Her medical conditions include cleft lip and palate, optic disc abnormality, epilepsy, mild aortic stenosis (her aortic valve doesn’t open fully), bladder reflux and scoliosis (caused by abnormal vertebrae).

Our response? Team Lillie! Her response? A smile every day and strength that is inspiring. And believe us folks, she is a fierce little princess. We hope that you’ll join us for our adventures…the good, the bad and the utterly ridiculous.