When Christina was born, she was diagnosed with 100% Trisomy 21 Down syndrome. It wasn't until she was 25 that she discovered her misdiagnosis.

Meet Christi

Our gift on Christmas Day, 1978, was a baby girl who looked exactly as her five siblings looked when they were newborns.  At least that’s what my friend, the pediatrician, and my friend, the founder of an innovative day treatment center for children with disabilities, believed.   But the nurse in the delivery room had her suspicions that our daughter had Down syndrome.

We accepted the baby no matter how many chromosomes directed her development. We planned to follow that same nurse’s advice, “Take her home and love her. Treat her just like your other children. She will need to be taught things that typical children learn automatically, but she will be able to learn just about anything you want to take the time to teach her.”

A month later, a phone call from a geneticist at Oakland, California Children’s Hospital confirmed that friends sometimes see what they want to see, even when they are confident professionals.  Our baby, Christina, did indeed have Trisomy 21.

She grew up blessed by God; she was adored and educated by us, by her siblings, by an outstanding teacher and many caring experts. She has learned to read and write, add and subtract and multiply,  and sign and sew, dance and act and play the piano, speak some Spanish and drive a car. True to the nurse’s words, she certainly could learn; there just wasn’t time to teach her everything, but we managed to teach her an awful lot.

When Christina was 25, we had the opportunity to take her to Stanford University Medical Center, hoping to participate in a trial they were conducting on the drug Aricept, and how it might affect memory in young adults with Down syndrome.  The initial assessment eliminated her as a candidate due to some coronary complications. Cognitive testing also showed that her memory was too good to fit their criteria!

Included in the screening for the study was a karyotype performed on peripheral blood by New York’s Montefiore Medical Center laboratories.  50 cells were screened, 5 analyzed, and two karyotypes revealed a low-level mosaicism for chromosome 21.  46 out of the 50 cells revealed a 47, XX, +21 chromosome complement while the remaining four cells revealed a normal 46, XX chromosome complement, “consistent with the clinical diagnosis of mosaic Down syndrome.”

I honestly don’t know what difference it might have made to know about her mosaicism from birth. Our expectations couldn’t have been any higher. Our investment couldn’t have been any greater.  Perhaps it would have helped in our continuous and difficult battles for supports and services if chronically obstructive school officials had held to the same high hopes we had, which indeed they might have done, had they known of those few “normal” cells.

Now, I find myself constantly searching Christina’s contemporaries, wondering who among them was also misdiagnosed. I am mystified and angered by neonatologists’ cavalier reluctance to order looking at enough cells for a differential diagnosis. 

The anger is personal. In 2007, our twenty-fourth grandchild was suspected to have Down syndrome soon after delivery. In spite of our son’s requests, they analyzed only 25 of her cells. The doctor’s I-told-you-so-delivery of this news: “and they all have trisomy 21.”   Maybe they do, but what might a more competent evaluation have revealed?

Judie Hockel-Mom to Christi