I have a daughter with Down Syndrome, autism, and type 1 diabetes. When I say that to people, they do a little half grimace, intake of breath with a hint of furrowed brow… all meant to convey: that’s a hard life for you, and how do you do it? And Thank God that I don’t have to and I’m here for you. I really appreciate all those sentiments, but only rarely do people add the missing – tell me how she makes your life wonderful.
It seems impossible for people on the outside of our world to understand (including me before I got thrown into the deep end of the pool with a set of genetic testing results) that our children are far, far, far and away a net gain. Coline, an employee of mine, has a wonderful daughter who tells it best as she describes her precious daughter Lilly.
During this season of reflection and giving thanks, I encourage you to share this story. And if you have a moment, tell me how your child enriches your life.
My beautiful daughter, Lillian Josephine was born with a rare genetic disorder. It is called an unbalanced translocation of chromosomes 8 and 10. In simple terms, a portion of her 10th chromosome got stuck onto chromosome 8 and a portion of her 8th chromosome got stuck on to chromosome 10. While this doesn’t seem like such a big deal, when unbalanced, it actually causes a laundry list of congenital disorders and anomalies.
Because we found out her diagnosis early in the pregnancy, doctors told us that there was a good chance that she would never make it to term, or if she did, she would not be born alive. We were told that “these mistakes usually take care of themselves.” They also told us that there was a good chance she would not thrive if she did make it. Needless to say, it was a long and stressful pregnancy. I prayed and pleaded each and every minute of those 40 weeks. I clung to each kick, hiccup, and roll as a sign that she was going to make it. And on her due date 2/26/10 she was born by emergency c-section, weighing 4 lbs 10 oz.
She spent the first 7 days of her life in the NICU.
While she is only 8 1/2 months young, she has already been diagnosed with hydrocephalus (excess fluid on the brain), hearing loss in both ears (she wears hearing aids), eye abnormalities, central sleep apnea, feeding difficulties, heart disease (aortic stenosis), kidney disease, hydronephrosis (swelling and excess fluid on the kidneys) kidney reflux, GERD, low muscle tone, and developmental delays. In addition, her condition causes her to be very small for her age. She is almost 9 months old and weighs about 12 lbs 13 oz (the size of a small 3 month old).
At 2 1/2 months Lilly had surgery to have a shunt placed into her brain to help drain fluid. This is something that will need to be monitored (and perhaps have revised) for the rest of her life. She has spent about 37 days in the hospital so far for things ranging from urinary tract infections, sleep apnea, respiratory issues, feeding difficulties, kidney issues, low calcium, high potassium, and numerous other complications.
At home she receives physical therapy, occupational therapy, speech/feeding therapy, infant massage, nutritional assistance. To date, she has about 11 specialists that monitor her health very closely.
Along the way we have been told things like: “these children are a lot of work that will not pay off in the end” that we would “never get back what we put in” and that her future (if there is one) is “bleak.” They insinuated that she is a throw away and told us that we “deserve to go on to have a normal child.”
Well, in my opinion, those doctors and their text books can all go to hell. She is an amazing blessing – a magical child whose smile can light up the room. She eats and plays and sleeps like a typical child, only with a twist here and there. While certain things take her longer and require more effort, she is tenacious and strong willed. She loves going for walks, listening to music, and exploring her world. She is patient and loving and has an infectious giggle that can bring a grown man to tears.
There are no other reported cases, so little is known about this rare chromosome disorder. So for now, we take things one day at a time. And when possible, find humor wherever we can. She has taught us so much in her short life – things that we thought we knew, but could not, until now. Things like patience, tolerance, unconditional love, compassion, understanding, and strength. She has taught us about true beauty. And most of all, she has taught us to never take one minute, one smile, or even one coo for granted.
And although it may seem weird to the world, we are excited for the future, ready to face the challenges, ready to prove them all wrong. She is not a diagnosis or a mistake. She is not broken or incomplete. She is not temporary or less than.
She is my perfect daughter.