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.
