For many years, we did not know Jessica’s correct diagnosis. We didn’t know that the DNA Jess was missing played a significant role in her development. Heck, we weren’t sure if it was DNA! And what does this have to do with a UNIQUE Little Red Book?

A rare genetic diagnosis gave us a name, a global community—and a spot in the not-so-little UNIQUE Red Book.

When Jess was twenty years old, our neighbor, Dr. Sadler,  who is a geneticist at Oishei Children’s Hospital in Buffalo, told us about a new genetic diagnostic test, called subtelomeric FISH study (Fluorescence in situ hybridization (FISH)  and asked if we wanted to test Jessica. For those of you who are interested in more detail on a FISH study procedure, see below; my knowledge of the procedure ends at the name FISH. 😉

 The test required a blood sample, similar to Jessica’s previous chromosome studies. I don’t recall how long we waited for the results. It was not like waiting for amniocentesis results. Jessica was here; we knew her thoroughly, and the information from her genetic study would only provide us with more details. Jessica was one of the first patients in Buffalo to undergo this test, and she was the first locally to receive a positive result, meaning we finally had an answer. Jessica’s chromosomal disorder was now called 1q-43-44 syndrome.

We struggled to find another family in the world whose child had the same UNIQUE deletion.

One day, I was on Facebook and typed in 1q43-44. I mostly did this out of curiosity, not expecting to find anything. To my astonishment, I found a private group of families who have children with exactly or a similar chromosome deletion.

We are Not Alone

I immediately joined the group and quickly realized that Jess and I were the oldest members. My theory on why we are the older members is that many families with children over twenty years of age are not actively pursuing a diagnosis or don’t have the fortune of a geneticist living in their neighborhood. My second hypothesis is that even if parents in their fifties are searching for answers about their child’s deletion, once they get the results, it is unlikely that they will search for Facebook groups for children with a similar diagnosis. I prefer these theories to the notion that there aren’t many individuals with 1q43-44 who are still around by the time they are thirty.

We have known Jessica’s correct chromosome deletion for twenty-three years. The revelation did not change therapies or even medical care, but it gave a name and identity to the various symptoms and beauty that describe Jessica.

FINALLY UNIQUE LITTLE RED BOOK

“UNIQUE (Understanding Rare Chromosome and Gene Disorders) was founded 40 years ago with five families posting their stories in a Little Red Book. Then and still today, Unique helps navigate the world of rare chromosome and gene disorders. To let people know they are not alone.

It’s now 40 years later, and the group has created a modern version of the original Little Red Book. The new Little Red Book brings together many of the stories of these Unique families today, describing the knowledge, joys, and sometimes the challenges of rare diagnoses. 

Jessica’s Story

Jessica’s story is on pages 206 -207 (Look how the numbers have grown – enough that instead of 5 pages, Jess is on page 206, AND there are more pages after our story!

This diagnosis does not always dictate the milestones our children will achieve. Many of the children in the group are already walking and talking. Many factors determine milestones, which are far beyond my comprehension. But what I do understand is the importance of our group, community, and the UNIQUE Little (not so little anymore) Red Book.

Take a look at The Little Red Book