Today is my birthday. This year, I’m two-thirds the number of chromosomes for trisomy 21.
I doubt I would have ever counted my years by reference to a genetic condition. Eleven years ago, though, that all changed, when my daughter, Juliet, was born with Down syndrome.
Down syndrome is a genetic condition named after John Langdon Down, the physician who first described it. When Juliet was born, though, I, like many others, thought the term “Down” was descriptive: describing the delayed development, speech, and cognition associated with the condition.
Juliet would show me how wrong my misunderstanding was.
Dr. Down described the condition based on physical and behavioral similarities of some of his patients. In 1958, another doctor, Dr. Jerome Lejeune, discovered the genetic cause for Down syndrome: an extra 21st chromosome. Whereas most of us have just a pair of each chromosome, those with Down syndrome have a third 21st chromosome, hence the scientific name of “trisomy 21” for the genetic basis for Down syndrome.
This year, I turn 42 years old. So, my age is a pair of 21 chromosomes and 2/3 of the way of being trisomy 21 in years. For my birthday weekend, Juliet, her brother James, and I went camping at Mammoth Cave National Park.
On the trip, there was a reversal in what most parents experience about how their children with Down syndrome will be treated. While, as parents, we notice when others view our children as delayed, instead, it was I who noticed my daughter’s delays, while others instead were impressed by her.
Some of the delays I noticed was how Juliet is still working on tying her own shoes. At night, she still needs some help with brushing her teeth. And, on our hike, Juliet lagged hundreds of feet behind James and I, trudging slowly back to the car.
But I didn’t see anyone else noticing these delays.
Instead, en route to our tour of Mammoth Cave, I noticed how much Juliet’s bus-mate enjoyed his conversation with her. When we got on the bus, James asked to sit with me, leaving Juliet sitting by herself as others boarded. A middle-aged man sat down next to Juliet and his wife took the seat in front of them. Juliet proceeded to ask his name (Jim), if he had dogs (he did), what their names were (I didn’t catch that), shared about her pets and their names (Baxter, Luke, Big O, & Orleans), and then introduced herself to his wife (Jerri).
Juliet talked with them the whole way to the cave entrance. Once in the cave, Juliet was the first to ask the Ranger a question, and it was a good question: “how many types of bats are there in the cave?” (The answer is nine, and the Ranger stopped naming after the fourth species, so Juliet may have even stumped her).
When we returned, we then went on a 1.5 mile round-trip hike to the ominously named “River Styx Spring.” The hike is 0.7+ down to the spring and then, of course, 0.7+ uphill back to the visitor center. It was on the uphill climb that Juliet began to lag, but she finished the hike after stopping to talk with a recent college graduate.
The next day, on our return north to Louisville, we stopped at the Lincoln Birthplace National Historic Site near Hodgensville, Kentucky. There (as at Lincoln Boyhood National Memorial) Juliet entered her name in the registry (pictured above). After climbing the 56 steps of the memorial (one for each year of Lincoln’s life), Juliet and James completed an activity booklet to receive a Junior Ranger certificate. When Ranger Emily went to complete Juliet’s certificate, Juliet spelled out aloud her first and last name.
Throughout this trip, those who interacted with Juliet very likely noticed that she also happened to have Down syndrome. For instance, the Jim & Jerri needed Juliet to repeat what she said a couple of times to understand her and I suggested that to Ranger Emily that she score Juliet’s activity book on an adapted basis since she didn’t complete most of it, but what she did complete was mostly correct. But, what I saw was that they were not noticing Juliet having Down syndrome as an explanation for any apparent delay in speech or cognition; rather, if they did notice, it was to note how well she was doing with Down syndrome, not in spite of it.
Which is why I share these “our story” installments here on a blog about Down syndrome and prenatal testing.
What most parents seek when they find out prenatally that their child will have Down syndrome is a vision of what this new life can be like. Up until the screen reported an increased likelihood or an amniocentesis provided a definitive finding of Down syndrome, parents undergoing prenatal testing have a desire for reassurance and, usually, the dreams they have is for their child to exceed in quality and accomplishments those lives the parents are familiar with. Then, they’re told their child has Down syndrome and counseled about the medical and cognitive impact of Down syndrome. The parents then look at the life of their child from the opposite end of the telescope, narrowing the child to words like “trisomy 21” and being aware of all the things they don’t think their child will be able to do.
Hopefully, though, expectant parents will take the time to seek out personal stories to see what their and their child’s lives can be like.
I was fortunate in that with Juliet’s being a postnatal diagnosis, we’ve had 11 years consisting of more than 4,000 days with more than 64,000 waking hours for Juliet to show us what kind of life she can have.
And this past weekend, she showed Jim and Jerri, Ranger Emily, and the college graduate, and me.
If you are so generous as to think of giving a birthday gift, or if you simply support this work of mine, or if you want parents to receive recommended written resources following a test result, please consider a donation to the National Center for Prenatal & Postnatal Down Syndrome Resources. It’s tax-deductible and furthers the effort to deliver up-to-date, accurate, balanced information about Down syndrome to health care professionals and new and expectant parents, including life stories of what a life with Down syndrome can be like.