There are three types of Down Syndrome. Trisomy 21 (T21 or non-disjunction) is the most common and all cells have an extra chromosome. Henry has T21 so every cell in his body is made up of half mommy, half daddy, plus a little extra. Mosaic Down syndrome is when only some cells have an extra chromosome, but other cells in the body are typical and have only 46 chromosomes. Translocation Down syndrome occurs when part of chromosome 21 attaches or translocates onto another chromosome. About 3 to 4% of all people with Down Syndrome have Translocation. Translocation is the only type of Down Syndrome known to have a hereditary component. Only a third of people with Translocation Down Syndrome attained their 21st chromosome through their mother or father so 1% of all diagnosed with DS are hereditary.
I️ remember the appointment with the geneticist. Henry was so tiny and bundled up so that all you could see were his beautiful steely blue eyes open wide and taking in our every move. We weaved through the all of the narrow hallways with our seemingly massive stroller and diaper bag in the maze that is the west side of The University of Alabama at Birmingham’s (UAB’s) campus. The building carried the smell of aged libraries just brimming with knowledge. That smell I️ usually find comforting- like I️ should have a cup of coffee in hand searching among books yellowing with age. But that day one of my favorite smells frightened me.
The little genetics office was stuffy… stifling even. We were sweating in our seats while Henry’s cheeks became increasingly flushed. James left his coat on… like if he didn’t acknowledge that the room was hot, it wouldn’t be. Just like if we never acknowledged possible limitations for Henry, there wouldn’t be any.
We just wanted to hear hope. We were still ignorant… we hoped for someone to tell us that our boy would excel. We wanted to hear he’d be different than the picture we held in our heads of the boy with Down Syndrome; the picture so skewed by the deep rooted ableism and profound ignorance that we couldn’t see anything but a future holding despair and inequality. My worst fear was to be told his life would lack quality… would be less than a worthy life. We wanted to hear he had what we interpreted as mild Down Syndrome : Mosaic Down Syndrome.
The geneticist came in and immediately asked us if we saw Down Syndrome in Henry… if we thought he looked like other children with DS. We just stared blankly. Then I️ narrowed my eyes and assumed my newfound “fierce protective mother” position and said we just saw our son. He then very kindly asked if anyone had told us the positive points of our son’s diagnosis- we still stared. The doctor gave a passioned speech about how amazing Henry was and would continue to be. He told us of traits he and trends he has observed in his many years of practice. Henry may have susceptibility of being fooled, not for lack of intelligence, but for the common characteristic of a deeply empathetic soul. Henry may have a razor sharp memory up and to include names (like every person’s name in his entire class in high school), dates, and most of all any hint of a promise being made- he told us to be vigilant about how we worded our sentences because a broken promise could very well be imbedded into his memory for life. Henry may have a very strong will – at the mention of his predisposition to stubbornness we actually started to smile and giggle. We are both very strong willed individuals: Henry has no chance of being sheepish or a follower. Henry may have the ability to be a social Chameleon: to be able to fit into all cliques in school and seamlessly move from one to the next. Henry may have the ability to be completely independent- he shared with us the model of a community being built in Tuscaloosa, Al catering towards differently abled individuals with living spaces designed for all levels of independence.
After many more examples of the possibilities Henry’s future may hold, he told us that Henry would be an individual with his OWN traits and features. He warned us that even though the world has progressed greatly in the last 40-50 years, we still may have to fight prejudice and ignorance. He then shared Henry’s diagnosis of Trisomy 21.
We left that office feeling hope, treading through the bitting Spring air with a lighter step. Our hopes for Henry were validated and fueled, though not in the way we had initially wanted. And that was ok.