Down Syndrome on TV: Conversations About “Born This Way”

By Vicki Vila

As parents, sometimes we want a peek into the future.

What kind of job will our children have? Who will they pick as their partner? Will they ever stop leaving piles of clothes in a trail on the floor?

We use our own life experiences to guide our children as best we can. But if you have a son with Down syndrome like I do yet never met anyone with that genetic makeup while growing up, the future can seem more mysterious.

People with Down syndrome are living longer, healthier lives than ever before, with more opportunities to be included in the wider community and pursue higher education. But there also exists a long and sad history during which parents were counseled to put their babies in institutions, and most did, so generations of people missed out on getting to know them.

At the same time, new prenatal blood tests have made it easier to predict early in a pregnancy if a fetus may have Down syndrome, though an invasive test must still confirm the diagnosis. Some worry these tests will push the abortion rates higher for Down syndrome pregnancies, though data on abortion does not yet include those tests.

With these facts in mind, I was quite happy for the chance to see people with Down syndrome featured on their own reality show – the A&E series “Born This Way.”

Left to right: Elena, John, Cristina, Steven & Sean at the community center Leaps n Boundz with a support worker. (Photo Credit: Adam Taylor, A&E Network)

The show is set in Los Angeles and has aired on Tuesday evenings at 10 p.m. EST for the past six weeks. It finishes today, but has been renewed for a second season, which the network said indicates a broad appeal.

I’ve watched with a friend who also has a young son with Down syndrome and we enjoy seeing the seven young adults interact with each other and figure out their lives. Though I think most reality shows are exploitive and not worth watching, this is a very positive and likable show. It’s a project from Bunim/Murray Productions, which created the reality show format with the MTV franchise “The Real World.” This latest venture, though, is free of backstabbing and alcohol-fueled revelations. The cast members really support each other and when an issue arises, they argue but work it out.

They are fun to watch and represent different archetypes. Megan, 22, is very ambitious and thinks highly of herself. She is a public speaker and is starting her own clothing business called Megology. “Don’t limit this diva because I’m right here,” she says. Cristina, 25, is socially mature and has a longtime boyfriend she would like to marry. Sean, 21, is pegged as a ladies’ man on an eternal quest for a girlfriend. Rachel, 32, is a likeable everywoman with a job who loves R-rated movies and American Idol. John, 28, an aspiring rap artist, is the comedian of the group. When he cracked an egg on his forehead during cooking class, I saw glimmers of my son.

Elena, 28, is highly emotional and doesn’t like it when people mention Down syndrome. “I don’t know why God gave me that,” she says. I worried over whether producers were filming in such a way to highlight her anxiety. Elena was born in Japan and her mother said it brought great shame to the family and took her 20 years to accept her daughter’s diagnosis, so it is possible Elena has internalized that. Steven, 24, works at a baseball stadium and dispenses sage advice. When one cast member said Elena needed to be nicer and control her emotional outbursts, Steven said, “You want her to be perfect. I think the best thing for Elena is to be who she is, rather than something that she’s not.”

“Born This Way” has been hailed as groundbreaking in some corners, and criticized in others for portraying an overly rosy look at life for adults with Down syndrome.

David Perry, a critic of how disability is portrayed in the media and a writer I respect, says the show is “basically fine” but doesn’t go far enough to promote inclusion. Personally, I don’t think it’s going to change the world – that’s a long-term project – but it is a leap in the right direction, because the world by and large doesn’t have high expectations for those with Down syndrome and I think most people don’t realize how interesting and varied they can be.

This is not the first time Down syndrome has been on TV. But it’s the first time I can recall a full cast of people with intellectual disabilities on an American show. In 2009, an online show in the U.K. called “The Specials” won critical acclaim for its portrayal of a group of young adults with intellectual disabilities. In the United States, my generation grew up with “Life Goes On,” about a boy with Down syndrome and his family, starring Chris Burke. Today’s television landscape has a variety of talented adult actors with Down syndrome, including Lauren Potter of “Glee,” Jamie Brewer of “American Horror Story” and Luke Zimmerman from “The Secret Life of the American Teenager.”

One common criticism I’ve read about “Born This Way” is that it focuses too much on interviews with the parents, and this bothered me at first too. Beth Haller, a disability scholar who is a journalism professor and the director of the Communication Management master’s program at Towson University in Maryland, said she thinks the show is “an important and helpful addition to representations of people with disabilities on TV.” But she thinks the parents disrupt the narrative.

In “The Specials,” of which she is a big fan and wrote the show’s Wikipedia entry at its request, she said that parents, family members or personal attendants have very little screen time. “It felt more inclusive because one of the adults from the group home narrated each episode,” she said, and there was less of the sitting before the camera to reflect on things that happened.

“Nothing against the parents,” she said, “they all seem very nice, and they obviously care about their adult children.” But she would like to see the show more focused on the adults and their activities. “To me, when the parents have so much screen time, it shifts the focus of the show to be for parents of disabled people, rather than a more general audience.” With that said, she added, “I still appreciate the show for focusing on the lives of people with intellectual disabilities and will definitely keep watching.”

My friend and I have definitely enjoyed having this peek at some real people with Down syndrome on “Born This Way,” and I guess I’ve been less bothered by the parent interviews as time has passed. In the first episode, cast members gather with their families for dinner on a pretty outdoor patio. People banter comfortably and pass around delicious-looking platters.

My friend commented: “It’s just encouraging to see them walking around, talking with friends, having a good time at dinner, not throwing their food.” Or licking each other’s elbows, I interjected, referencing something my 7-year-old son thinks is hilarious to do to his sisters.

On a more serious note, watching adults with Down syndrome laugh and talk with their friends can seem like a big deal to some.

Parents of young kids have told me the show gives them hope they’ll be able to have a meaningful conversation with their child someday. You see, people with Trisomy 21 – the medical name for Down syndrome – are almost always delayed when it comes to communicating. As with many things, it’s a spectrum, with some children becoming quite chatty while others speak in short phrases or use a communication device or sign language, and these skills are constantly evolving.

Stacey Calcano, of New York City, has a preschooler with Down syndrome and said the cast should not be held up as the best way to be an adult with Down syndrome. She brought up a point that I’ve heard other parents echo and I think is valid. “It’s really bothering me that our community is presenting itself in a way that we need “proof” of what our kids “may” be able to do for peace of mind,” she said. “If our children grow up without the same abilities as the adults on the show, does that make them less valuable as human beings? No!”

I ask myself if I am falling into this trap, and maybe I am. I DO want my son to be well spoken, but I also think he’s already there at age 7. I enjoy him very much and think he’s hilarious, but the truth is people who don’t know him may have trouble understanding him. I’m okay with that; we’re working on it.

There is a broader truth at play, and I think it’s double-sided. On one side, the show is an indicator to a wider audience of how much has changed since routine institutionalization. On the other hand, I think people with Down syndrome will always struggle with some things, so it isn’t that the cast members have better skills than others, just different ones.

Megan still needs to learn to do laundry and grocery shopping. John’s mother says she doesn’t think he could ever live independently and is greatly relieved when her daughters reassure her he can live with one of them if need be. Some of the cast did not know how to ride a two-wheeled bike until they went to a camp to learn during filming. (Bike riding is also harder for people with Down syndrome because of low muscle tone and balance issues. I give credit to the show for having Steven explain this when talking about the camp.) Rachel, one of my favorite characters, does her own shopping and laundry and has a job in an office mailroom, but because of sensory issues has a fear of loud places and can’t handle crowds.

Rachel, Sean, Cristina and Steven. (Photo Credit: Adam Taylor, A&E Network)

So what do adults with Down syndrome themselves think of the show?

I decided to ask some. I spoke via phone to Alex Bender, 22, who attends the TAP program at the University of Cincinnati for people with intellectual disabilities and is studying photography. She heard about the show from her Mom. She said Megan is her favorite cast member. “She’s awesome,” Ms. Bender said. Her mother, Gary Hughes Bender, who wrote a book about raising Alex, told me that Alex did not seem to like the parts of the show where cast members were all together at a community center because her life is more inclusive.

When I asked the younger Ms. Bender if there was anything she didn’t like about the show, she quickly replied: “I told my Mom I loved it. I didn’t like her keeping me up so late to watch it, but I loved the show.” She did see a few parallels between her life and Megan’s. Like Megan, Ms. Bender is close with her Mom, who is also a single mother. Ms. Bender said she loves her school and sees her future in Cincinnati. “But then there is my Mom,” she said jovially, “she wants me in her life.” Her mom lives in San Francisco.

Rion Holcombe, 22, attends the ClemsonLife program for people with intellectual disabilities and has a girlfriend. He became an Internet sensation in 2014 when a video of him opening his acceptance letter to the competitive program went viral. I did not speak with him directly, but his Mom told me he watched one episode of “Born This Way” and found it very entertaining. She said he gave her permission to pass along his thoughts. “He identified with the guys,” said Susan Holcombe, “guys he would definitely be friends with, but his favorite is John. Quite a character that John!”

She said they discussed some of the things in the show, like what would happen when she and his dad get too old to care for him. “One thing I know is that he cannot live on his own,” she said, “but he adapted quickly and happily to dorm life with his three roommates. He walks to class (a mile) and crosses traffic to walk to work three days a week, and takes a bus to the grocery store to shop. So he agreed that living in a smaller group home would be a possibility.” She said her son is really level headed with strong values. Whereas she finds the show insightful, to him it’s just entertaining. “He would rather be watching the Teen Disney shows,” she said.

I also spoke with the family of Jacob Gehringer, 20, a self-advocate from the Omaha area who carries around his own bio sheet to hand to community leaders. His mother, Denise Gehringer, told me that Jacob was fully included in both “place and curriculum” in high school and now is in his second year of vocational training in his school district.

Ms. Gehringer told me that her son has said “Thank you!” out loud many times when the cast makes comments on “Born This Way.” He especially gave his “Thank you!” she said, when two of the guys – I think it was Steven and Sean — were having drinks at the bar and talking about dating. Jacob was in agreement when Sean got advice from his friend to stop pursuing a cast member that already had a boyfriend. For this article, Ms. Gehringer asked her son directly about the show and forwarded me the questions and answers.

Q: Would you like to hang out with the gang on “Born This Way?”

A: I don’t know. I don’t know if we like the same things.

 

Q: What did you think when the gal got upset when she heard the words Down syndrome?

A: It hurts her feelings. I would not say it to her.

Follow Up Q: Does it hurt your feelings when you hear Down syndrome?

A: NO! Why would it hurt my feelings? I’m not the same feelings as her. (Under his breath) Stupid question.

 

Q: What do you think when the guys were talking about dating?

A: (Very reluctant to talk about this with his mom). I don’t know. That guy should respect boundaries.

 

Q: I thought I heard you commenting about the one guy getting to live in his own place. What did you think about that?

A: I want a house with a yard for my dog.

 

Q: Do you want to watch more of this show?

A: No. “Agent Carter” is coming back on.

 

“So there you have it,” said Ms. Gehringer. “Apparently he was much more unimpressed than I thought.”

I love the variety of responses I got, and I like that some other families whose young adults have Down syndrome I reached out to said their sons or daughters were too busy to watch the show. Others said their children weren’t aware of it.

One thing that struck me while reading parents’ opinions about the show on social media is those who said the cast is not representative of the average adult with Down syndrome because they are fairly independent with strong verbal skills.

Is there an “average” adult with Down syndrome though? I decided to ask someone from the National Down Syndrome Congress because they meet people from all over the country. Sue Joe, the communication director, said in an email: “There continues to be such a focus on what people with Down syndrome “can’t do” or “will never be able to do”, that we’ve found “Born This Way” to be very exciting in presenting what people with Down syndrome can do!”

“The reality is,” she said, “we meet people just like the cast at our convention each year. And we also meet individuals who use assistive technology to communicate or who need a caregiver nearby to get through each day. They all bring unique qualities into the world.” On that note, Sean’s mom, Sandra Assimotos McElwee, told me in an email that when the producers asked for feedback, she told them they should consider adding someone to the cast who is nonverbal.

Among people with Down syndrome, the level of independence isn’t the only thing that varies.

Ms. McElwee, who has written books and keeps a blog about her and her son’s experiences, told me that she and her husband always knew that Sean’s future depended on the supports they could access.

“I know now,” she said, “that we are fortunate to live in a state that provides those supports and services. I hope now as parents see what is possible, they can lobby their own states and school systems to support their children as well.”

She sent me a jaw-dropping list of programs that are entitlements in California for people with disabilities, which means there is no waiting list for them. Her list included things like respite, behavioral therapy and potty training for children, as well as adult support and independent living services. She said years ago, some “mothers from hell” who lived in Sacramento paved the way for this by riding the elevator every day with legislators at the Capitol and told them about their kids and what they needed in services. (Take notes people. Find your state legislators here.)

Compare that to North Carolina, where I live. Melinda Plue, the director of advocacy and chapter development for The Arc of North Carolina, said the state has “somewhere between ten and twelve THOUSAND people on a waiting list for what we call Innovations waiver services.” Waiver services are the menu of supports that make it possible for people with intellectual disabilities to work on specific goals within their home or community.

She said “the people highlighted in this show either have no need for these services, or it seems that they have already them in place.”

Ms. Plue has two children and also provides support to her brother-in-law with an intellectual disability (not Down syndrome) who lives next door, independently but with some of the aforementioned services. She has watched all the episodes to date and says her brother is not a fan of the whole “get away from family” thing that she feels the show promotes. “He prefers us handling lots of his business,” she said. “But those dreams — college, girlfriends, etc., those are his too.”

It is wonderful, she said, “to see that people with intellectual disabilities (and, for the purposes of this show, people who have Down syndrome) can and do lead very independent lives when the support system is in place to make this happen.  It’s great that parents are being portrayed as dream-makers and are finding success for their children.”

She would want to be careful that the show does not discourage other parents of children with disabilities. “There are many people watching the show who have limited financial means and much more challenging needs to support (physically, mentally, emotionally, behaviorally) and whose children have the same potential as the people on this show.”

“There are individuals with disabilities who find the world much less accommodating than these families in Los Angeles, either because their communities haven’t fully embraced their needs, or because the support systems are so different state to state.”

“Good or bad,” Ms. Plue said, “this show is bringing to the surface many issues for which organizations like mine work to change each day.”

Personally, I love all of the conversations this show has started. Ms. McElwee said she “knew the show would introduce the world to seven people with Down syndrome” and had “high hopes that it would be a game-changer for people with all disabilities,” but she didn’t know how exactly that would play out.

Some positive changes she’s learned of include a grocery store chain using a courtesy clerk with Down syndrome for an employee training video and a man who decided to hire two adults with disabilities after seeing Sean’s interview on the show. She has also been contacted by several general educators for advice on how to approach their school districts about including students with disabilities in their classrooms.

“Parents of children both with and without Down syndrome are watching the show together and having important discussions about acceptance, abortion, and making friends with people who are different than themselves,” Ms. McElwee said.

Cristina and Megan. (Photo Credit: Adam Taylor, A&E Network)

“There’s a multitude of people, previously ignorant, who now are enlightened,” she said. “Television is the most powerful medium.”

I asked if she would be doing anything differently now regarding how she advises Sean because of his involvement in the show.

“The most powerful thing that has come from Sean watching himself on TV is his own awareness,” she said. “We told him that a “ladies man” meant a player. But he insisted it meant that he really liked ladies. He now knows we knew what we were talking about. We believe that learning by mistakes are the most powerful and long-lasting lessons, and we allow Sean to make mistakes, instead of saving him all of the time.”

There has been some pushback about how forward Sean is in his pursuit of a girlfriend. In episode four, he keeps telling Megan he likes her a lot even though she has a boyfriend, and then when he meets a young woman with Down syndrome at a convention, one of the first questions he asks is “Do you have a boyfriend?” This made me feel uncomfortable for that woman.

Ms. Plue of The Arc said she found it unsettling that Sean’s behavior toward women “is seen as almost cute.” (To be fair, Sean’s father does have a talk with him about how to treat young women he’d like to date and Ms. McElwee said they taught Sean to ask about boyfriends so he wouldn’t pursue someone already taken.) “If it wouldn’t be appropriate for a peer without a disability to say in public,” Ms. Plue said, “I believe there should be an active effort to redirect the behavior.”

As for Sean, I asked him what he liked about being on the show. “People know who I am now and they are very friendly,” he said. “It’s very fun and I like it when people recognize me.”

Had he gained any insights?

“Yes,” he said. “I don’t want to like other boys’ girlfriends anymore. But I still need a girlfriend.”

In the meantime, he’ll have some good friends by his side. His mom said the friendships depicted on the show are genuine. I say bravo to the cast of “Born This Way” for transcending reality show tropes. Their friendship is the most enjoyable thing about the show and I’m excited to watch tonight.

You can watch past episodes at the network’s website.

 

 

 

 

 

For a Very Special Teacher, a Simple ‘Thank You’ Won’t Do

My son had an incredible team of people working with him this year in Kindergarten. Friday is the last day of school and this is the note I wrote to go along with the gift for his aide, who also supports another child in the same class. A act of pure serendipity brought her into our lives (and a smart administration kept her there), but we could not have come up with a better plan had we been purposeful. She was a gift from the universe.

Thank you for crossing my path that day in September and truly listening to what I had to say.

Thank you for always believing in my son.

Thank you for helping him go from “barely making it” to “thriving.”

Thank you for helping him love Greek class. And math. And reading. And everything.

Thank you for cleaning up applesauce, pee, milk, crumbs, smoothies and for catching his puke in a trash can.

Thank you for the Potty Tinkle Dance and for lying on the bathroom floor for his sake (please don’t do that again without a HazMat suit).

Thank you for helping him be a good friend.

Thank you for knowing that when he says “I hate you,” it really means, just give me a minute here.

Thank you for appreciating his sense of humor.

Thank you for stepping away to give him independence and then stepping back in at just the right moment to help.

Thank you for fostering pride in himself.

Thank you for teaching him how to be an “excellent” zipperer

When you have Down syndrome, so much depends on being supported by the right person. Thank you for being the best “right person” there is.

I have one wish: that every day heaven will break open just a little and rain down special blessings for you and your family.

In His Own Words: A Day in Life, 2015

What is a day in the life of a person with Down syndrome like? That’s the question posed by the writer and advocate Meriah Nichols and the Down Syndrome Diagnosis Network, whose mission is to provide accurate, up-to-date information to parents receiving a prenatal or post-natal diagnosis of Down syndrome. The answers, in honor of World Down Syndrome Day 2015 (Saturday March 21) are a beautiful mosaic of life in all its interesting variations. And by and large, they look like anyone’s life, extra chromosome or not. (You can also find other great ideas from the National Down Syndrome Congress at this link.)

I wanted my son to participate this year, since he is the actual person with Down syndrome. He helped me choose the pictures and I helped him “edit” what he wanted to say. He is 6 after all. The whole time I was typing this, him and his twin sister (who does not have Down syndrome) and big sister, age 9, were buzzing around me, fighting, arguing, trying to press the buttons, getting their heads in the way of my work, looking to see if far-away friends had messaged them, answering my questions, playing with toys, begging to go outside, putting on shoes without the socks and basically being nuisances to each other and to me. In a nutshell, that is a typical day for us.

This is a picture of him receiving a participation medial at a cheer competition for the Angels, which is this fabulous cheer team where kids with disabilities are paired with a teenage volunteer to learn tumbling and aerial routines that they perform locally. In this place, with these people, he shines. That look on his face of pure pride and confidence? That’s real, so incredibly real.

Cheer Medal, © Thoroughly Modern Messy

Some of his best friends are here, and every Friday we get to see them. He is especially fond of his volunteer, who is something of a big brother to him. What do you think about Angels, I asked him?

“Angels, my friends. I look and I wave. I wave to you! Then I get some ice cream.” Apparently he has not forgotten the one time after a competition when myself and some other parents went for ice cream with the kids.

“How did you feel when you got your medal?” I asked him.

“Happy….eeeee….that’s e in the middle?” He said.

“That’s not e, it’s a y,” piped in his twin sister with her usual exasperated authority. Day in the life? You betcha.

And next is a picture of all three at Christmas time (in case you didn’t notice the giant tree). I asked my son to look at the picture and tell me what he wanted to say about his family:

“I kiss Eva (big sister). I want to kiss Nino (that’s himself).” What else do you want to say?  “Computers. Dinosaur Say Goodnight and Dinosaur Is Feeling Sick (two of his favorite books to read on the computer).”  And? “I want to be Elsa and Eva can be Anna. Veronica (his twin) is Kristoff and Nino can be Elsa.” Frozen, if not his favorite movie, is the one he’s most obsessed with. He strongly identifies with Elsa and her unusual power.

What else can you say about your family?

“My sisters are nice to me.”

Do you fight with them sometimes?

“No.” (A total lie).

Do you like school?

“Yup.”

What do you like best about school?

“I learn about Greek and computers too.” They go to a partial Greek-immersion charter school and all of them, to my surprise and delight, love learning Greek.

I also gave his sisters a chance to say something about him. First, big sister: “He can sometimes be annoying but he’s also really cute and funny. Also, whenever I cry or get sick, he always gives me a hug. And he always makes everyone laugh with his violent banana jokes.”

For example:

Him: “Knock Knock”

Us: Who’s there?

Him: “Banana.”

Us: Banana Who?

Him: “Banana Scratch Your Eye Out!”

And his twin sister’s opinion:

“He can sometimes be annoying, but he’s loving and funny. LIke when I get hurt, he cares about me. He helps me not feel sad anymore. And he can sometimes be mean. But you don’t want to write that. But even though he is mean, I still love him. He’s still funny. ”

Three Musketeers, Christmas, © Thoroughly Modern Messy

Another way to celebrate this day is to read this wonderful blog post by Kelle Hampton and consider donating to fund college scholarships for people with disabilities.

My Connection to Disability — A Long, Thin Thread

This post is part of a summer blog hop that is the brainchild of Meriah Nichols. See other posts on the topic of Connection.

Until my son with Down syndrome was born about 6 years ago, I had no connection to disability in my life, or at least I didn’t think I did.

But if I scour the archives of memory, I see the little moments of connection that were threaded through my life. I hesitate to claim them as anything to do with me, because mostly I stood on the periphery.

No one in my family was disabled, but enough of my aunts, uncles and grandparents were sick or infirm that it made me scared of illness, hospital stays and nursing homes – things I associated with disability at the time, though I don’t now.

As a child, I was often sick. I remember missing school; even worse, I remember missing my one and only chance to go to the circus. We had to cancel at the very last minute because I was sick. Again.

I was born two months premature and had a host of allergies, now resolved. Every Wednesday, I got a shot in my arm that left a bruise. After a while I didn’t notice it, but to this day, the antiseptic smell of that doctor’s office and the antiseptic look of those wood paneled walls occupy a prominent space in my sensory memory, not at all tempered by the sweetness of the weekly lollipops.

When I was around 10, my mother took on the nearly fulltime job of caring for her elderly mother. My grandmother did not live with us, but it seemed my mother was constantly at her apartment, doing her shopping, helping her with daily tasks or making doctor’s appointments.  I got to help too, which I was glad to do. We’d go to the grocery store and I’d take my Nana’s list while my Mom shopped for us. That was fun for me.

But my mother seemed to get little in return for her efforts. My Nana, all of about 5’2’’, had a sharp wit and an unsparing eye that saw fault more easily than success. My mother never said in so many words that this caregiving was stressful, but I saw that it was. I dreaded the day I might have to become a caregiver for someone and vowed I would not let it consume me. (Little did I realize that her being a parent — my parent — was also likely all-consuming.)

In our neighborhood was a boy my age whose disability rendered him permanently childlike, both in stature and cognition. At 13, he looked like a 6-year-old. I don’t know if he had an official diagnosis. If he did, I never knew what it was. All I knew was that he had a sweet smile and very gentle eyes, magnified to twice their size behind stereotypically 1970’s style Coke-bottle glasses.

His mom would take him outside on their little row-house porch, just up the street from us. Everyone who passed by was a “friend,” who she gently encouraged to “Come on up and say hi to David.” I see now the steel beauty contained in this little act of hers, this determination that neither of them be alone. He was her only child.

I would often stop and say hi to David, which really meant sitting on her wrought iron chairs and having a glass of cold ice tea, quite good, while listening to her narrate the world for David, who never spoke. He would move back and forth from foot to foot and smile eagerly through the iron bars of the fence, making little noises when his Mom pointed out a squirrel or a cat, or a bumblebee. If his Dad happened to come home from work while I was there, it was like the heavens opened, and he’d wave his hands and squeal with excitement. Happiness.

Summer ice tea, © sashimisoda, 2014

Once I babysat for him, this boy exactly my age. I cut his sandwich into small pieces at lunch, played quietly with his toys alongside him, helped him sit on the potty and wipe afterward. The whole time we were together, he was calm. When his Mom came home, he behaved more defiantly, and seemed uneasy.

I always chalked that up to him somehow understanding the resentment I thought I saw lurking beneath the surface of her face, her mouth hard set in a line of displeasure. David never got any better, and I sensed that she took it hard. She would sometimes express the idea that it was hard, raising David, and yet her voice always resonated with a sing-song of joy, especially when talking to him.

So now looking back, again with the perspective of a parent whose children are often defiant and then some, I wonder if it wasn’t just him unloading his frustrations on Mommy (as all kids are wont to do), his sense of confusion over why she had gone and left him with this quite boring young teenager.

The only other child outside of “typical” that I encountered was another young charge that I took care of once a week when I was 16. He was about 7, and his father had recently died of cancer. Apparently, he wasn’t able to process this event and seemed to the untrained eye to be mentally disturbed.

He’d walk around the streets wearing a blanket as a cape and calling himself Jesus Christ, but not in a pretend way. He seemed convinced of it: he was God and as God, he’d surely find a way to bring his father back. Other children avoided him and just about everything he said or thought seemed, in a word, strange.

I can’t recall exactly what we did to pass the time when I took care of this young boy. Maybe some board games or pretend games? I really can’t say, all I can recall is the one time I had to put him to bed. I think I had to give him a bath, after which he absolutely refused to sleep in his own bed and so I had to try and get him to lie still in his Mom’s bed, an impossible task as he kept hopping up and down and I had nothing but words to talk him out of it. By the time his Mom got home, I was mentally and physically exhausted, but proud that at least he now seemed tired enough to sleep.

I was fascinated by him and had wanted so desperately to help him, thinking in my naiveté that I could, or should. After writing this, I decided to look him up on Facebook. If the adult male I found is not him, he’s doing an excellent approximation. I felt much relieved to see that his public profile shows him cavorting about in a variety of juvenile selfies, including one of him picking his nose. Ah, the resilience of the human spirit.

While still in high school, I got a fulltime summer job caring for an elderly woman with Alzheimer’s who lived with her daughter across the street from us. The woman, let’s call her Eleanor, was very gentle in nature and laughed easily.

She couldn’t walk without assistance, so I didn’t need to worry about her wandering away or hurting herself, because she spent all day sitting in her chair watching TV. I was there simply to keep her company and help her to the table when it was time for lunch. She couldn’t use the bathroom anymore, so I also had to change her Depends a few times. Though potty-training my own child sometimes filled me with exasperation and even disgust, this act of basic caregiving did not faze my teenage self.

Eleanor had many moments of lucidity, but more often she would ask when her husband or her son was coming. (They weren’t; her husband had died and her son lived far away and rarely visited.) We settled into a basic routine: she called me “You” if she needed anything, and I often read books while the TV played on, pausing to laugh with her at something silly. Oprah at 4 p.m. was a highlight for us both. We enjoyed the show, but we also knew that when it was over, her daughter would soon be coming through the door.

Row homes © injoongeum, via Flickr

I hope you, dear reader, haven’t come away with the wrong impression after reading these stories. I did not take these caretaking jobs because I was a kind person. I took them because I wanted the freedom that came with earning my own money, and these were the most readily available jobs outside of working at the mall, which I also did. Teenage girls were not always burnishing their resumes during breaks where I came from (but we all got into good colleges anyway). They were  finding ways to earn the spending money they needed to go dancing and buy the music, cute clothes and dangly earrings they read about in magazines. I had an internship, sure, but I also worked at the mall, sold Avon, and took care of people.

Yet I wonder: in these acts of caring, did I absorb some nuggets of truth about life? I doubt it. But I do think that sitting here, thinking about these stories, has made me realize that I’d been exposed to a wider variety of people than I thought. In theory, I don’t think of disability as a very big deal, though the concrete reality of it is much more complicated. But at least after all these years I’m not scared of being someone’s caretaker anymore. Being my son’s caregiver has been nothing like I worried it might be in the early days. It has not consumed me. We have a fun, active family life with our three kids – big sister, my son and his twin sister — that he is fully part of. The boogeyman of my childhood, chronic illness, did not come for us as I feared, though for the first few years of my twins’ lives, I thought he might because they were constantly sick.

If I’ve come to think anything specific about disability it is probably that we shouldn’t assume that someone who looks disabled needs our help. Ask first. More often than not, people with disabilities could mainly use a friend, a bit of conversation, a hand that reaches out and tells them that they are a part of the community too. Acceptance – not just tolerance, but an acceptance that they are who they are and it is no trouble for you to meet them on their terms.

I’d love to say that this way of thinking made it easier for my son with Down syndrome to have me as a parent, but I’m pretty sure it did not. No amount of caretaking could have prepared me for this most interesting and challenging of tasks, and most days I’m still not up to it. I don’t deserve his unconditional love and I’m barely quick enough to keep up with him.

I don’t really think of the term disabled as applying to my son, though I know it does; I am not in denial. Our boy is just our crazy little son, one of the funniest kids I’ve ever met, endlessly entertaining and frustrating in almost equal measure. If this gives me a connection to disability, then I guess I have one, but it doesn’t feel true. I don’t know any more about disability than I did at 16. But what I do have is a greater variety of stories to share. I hope you’ll visit again for more. In the meantime, check out the blog hop, where writers from across the world share stories about disability in their lives.

In Science of Down Syndrome, Another Piece of the Puzzle

A few news articles recently reported that after studying a pair of identical twins where only one had Down syndrome, scientists in Europe determined some new information about how having Trisomy 21, a third copy of the 21^st chromosome, affects a person’s genetic material. You can read the articles here and here. For a scientific take that is still fairly easy for a layperson to understand, read this one in Science Daily.

Myself and some other parents who have children with Down syndrome were unsure what this research meant and were confused by some of the wording in these articles. To decipher this for my non-scientific brain, I contacted Dr. Michael Harpold, who has more than 35 years experience as a biomedical researcher and is the chief scientific officer for LuMind Foundation (formerly the Down Syndrome Research and Treatment Foundation) the largest non-governmental source of funding in the United States for Down syndrome cognition research.

After speaking with Dr. Harpold, I gathered that the basic takeaway from the study was the finding that having an extra copy of chromosome 21 affected the expression of genes on all chromosomes, and even altered the very structure of all the chromosomes.** (See Footnote).

Most people understand that the third copy of the 21^st chromosome means that genes on that chromosome will be over expressed, said Dr. Harpold, and scientists have known for some time that it also affects gene expression on other chromosomes, with some genes being over expressed and others being under expressed.

But Dr. Harpold said the new findings indicate that genes on every chromosome, not just some, are affected. In addition, some of the gene expression alterations may be occurring because of structural changes in the chromosomes.  These changes, he said, were shown to occur in regular patterns – in other words, they are not random. Scientists aren’t sure which genes specifically are altering the chromosomal structures, but this study opens up a pathway for them to investigate, Dr. Harpold said.

Chromosomes, playing with extrusions © Jan Montarsi

“The consequences of this alteration in chromosome structure remains incompletely defined and will require additional research to understand specific effects,” Dr. Harpold said. “Based on this recent study, these alterations in chromosome structure correlate with differences in gene expression. Some of these differences in regulation of gene expression would be expected to contribute to some of the characteristics and medical problems as well as their variation between individuals in Trisomy 21.” For instance, this research may open doors in the future to understand why some people with Down syndrome have complex medical or behavioral issues, while others are less affected.

The study, he said, is “very important from the standpoint of opening up new thoughts about the mechanisms involved in Trisomy 21.”

The beauty of this particular study, he said, is that it eliminates the natural genetic variability among individuals, because other than the extra copy of the 21^st chromosome, the twins share the same DNA. “As far as I know, this is the first time that somebody has done this exact study,” he said. As for those confused by how twins can still be called identical if only one has Down syndrome, Dr. Harpold said that while this situation is rare, it isn’t unheard of. It likely resulted from a random event during early cell division, where one twin received a third copy of the 21^st chromosome and the other didn’t. Scientists can’t fully explain why that happens, he said.

The study involved an investigation of the chromosome structure and genes expressed (the RNA copies of the genes) in cells from each of the twins, said Dr. Harpold. In part, it expands on what scientists already know. “ This new study confirms the fact that some genes on other chromosomes are either over or under expressed,” he said, “it’s not a fluke.” Because of the natural gene variation occurring between unrelated individuals, Dr. Harpold said, it is not yet possible for the researchers to show whether or not the same pattern occurs in every individual with Down syndrome. It’s possible that the patterns would be similar, he said.

So, I wondered, what does this mean for the future of research?

“This new study opens the doors for further investigating which over-expressed genes on chromosome 21 or other mechanisms may be responsible for altering chromosome structure and gene expression in Trisomy 21,” Dr. Harpold said. “Such investigations could provide deeper understanding of underlying mechanisms involved in various medical problems experienced by individuals with Down syndrome and lead to development of new types of therapies. Further research based on the results in this new study may also provide new insights relevant for other trisomies.”

One thing the study does not do, Dr. Harpold said, is revise what science understands to be the root “cause” of Down syndrome, which at the most fundamental level is a third copy of the 21^st chromosome, the smallest of the human chromosomes.

Another thing that myself and other parents wondered was whether this research would complicate current cognition research. (We thought it was complicated enough when just the 21st chromosome was involved.)

In terms of ongoing research into drug therapies to improve learning and memory and prevent Alzheimer’s disease, he said that the study doesn’t affect anything currently in the works. “I think that as a researcher,” Dr. Harpold said, “it’s very interesting and opens up new pathways for additional research, but relative to the ongoing cognition research, the results of this new study do not say or indicate anything that’s been done is wrong or won’t work, it’s just a different layer.”

“It doesn’t directly or immediately impact the mechanisms or targets or drugs currently being studied,” he continued. “It may lead, however, to a greater understanding for potentially refining these approaches, but it doesn’t say they’re wrong.”

Here in Charlotte, I asked Campbell Brasington for her insight into what this study was telling us. She is a certified genetic counselor at the Down Syndrome clinic at Levine Children’s Hospital. She has written her own paper about the Nature study and you can find it here. (Scroll down to the bottom of the page.)

“Obviously, this study raises many more question than it answers,” she said, “but that is not new to anyone who has been following genetics over the past few decades. Certainly the development of new genetic technologies has outpaced our understanding of how many of these new findings are used and interpreted for our patients we see in our clinic and how they can be applied to clinical care.”

“This study’s findings do open many new doors for other ways to look at Down syndrome and how we might develop effective treatments that will improve overall health, cognition and quality of life for children and adults with Down syndrome,” she continued. “This will build upon and enhance research already ongoing and may also help in understanding the effects of other trisomies, such as Trisomy 18 and Trisomy 13.”

“Personally, “ Ms. Brasington said, “I am excited by this study because it shows that researchers are continuing to think about Down syndrome in new and innovative ways and how it affects the people we know and love who have Down syndrome so that future generations will benefit.”

For my part, I obviously don’t know what effect this research will someday have on our family or our son with Down syndrome, who is 5. But the disobedient rebel in me is getting a kick out of the idea that something about our son is, once again, more complex than we first thought.

Please keep in mind that I undertook asking the questions in this post mainly out of curiosity – I am fascinated by scientific research and briefly considered neuroscience for post-graduate studies (yes, people who’ve known me forever, it’s okay to laugh here). I am not promoting this research as something we should be excited about, but on the other hand, I see no reason to fear it, for I’m not sure it’s possible at this point to feel one way or the other. A special thank you to Dr. Harpold for patiently wading through my ignorance to answer questions and to Ms. Brasington, who is on the board of our local support group, the Down Syndrome Association of Greater Charlotte.

By writing this, my intent was not necessarily to enlighten, but to let you know there is an interested party watching and questioning. I hope that we can always be partners in curiosity when it comes to our children with intellectual disabilities. Please share your thoughts in the comment section below, or on my Facebook page. If you have additional questions, please post them below and I’ll try to ask one of the scientists.

** FOOTNOTE: For those who need a refresher on genes, cells and DNA – myself included – visit this great website from the National Library of Medicine.

 

 

 

The Opposite of Boring

This post is part of a blog hop in honor of World Down Syndrome Day on March 21 — the date is 3/21 for the three copies of the 21st chromosome that cause Down syndrome. (It will surprise no one who knows me that I am a day late on this).

The other day I was sitting around with my three kids talking about opposites. Our little kids, boy/girl twins who are 5, are in preschool. So they think in terms of pretty basic opposites like in and out or up and down. Our oldest daughter, who is 8, likes to play around with ideas a little more and she was trying to figure out the opposite of things not normally known for having antonyms, like rainbows and dogs. (“Well,” she said, “isn’t cat the opposite of dog?”)

Soon we were cracking up because I was asking, “What’s the opposite of nose?” and her little sister would say “No nose,” and so forth, with all of the body parts. The conversation came around to ourselves. The opposite of little sister was “not crazy” and the opposite of big sister was “not weird,” and the opposite of me was probably something like “nice.” Then the girls asked me what would be the opposite of their brother, who has Down syndrome. I thought for just a few seconds when it hit me: boring.

My son is many things: full of energy, willful, persistent, hard to motivate, uproariously funny, frustrating, defiant, loving, silly, curious and strong. But he is anything but boring. He has never been boring. Not when he was learning to crawl and would lie on his belly and shake his legs in the air furiously behind him for a happy dance. Not when he lights up like a Christmas tree at the sight of a dog. Not when he says “No, mine’s!” about every toy that enters the house that someone else tries to play with. Not when he puts on a “show” by using a blanket as a cape and pretends to be his latest favorite hero/princess/super pig. Not when he shrugs his shoulders at an important question (“Where did you put the remote control?”) and says “I… don’t… know.” There is something particularly enchanting about hearing my language-delayed son learn the correct use of a phrase that rolls so easily off the tongue for most of us.

A typical day for him starts with me rousing him from bed and him grumping about getting up, possibly calling me “meanie,” before laughing and digging his head into my neck as I pick him up and carry him downstairs. (I still carry all the kids down in the morning if they don’t come down on their own, just because I can and it reminds me they are still my babies.) He goes to the bathroom then runs for his robe and then if he sees that his big sister awake, he tells her to “Stop it,” with a hurt face, even though she hasn’t done anything to him at all – retribution for all the times during the previous day that she’s pestered him. He’ll get to the breakfast table and act all surly because I won’t let him dump ALL the milk in his cereal like he wants to. Later, he’ll get dressed and put his shoes on the wrong feet no matter how much I remind him not to and despite the fact that I have written R and L on them (correctly) and he knows how to read R and L and what they stand for.

In the car on the way to school, he’ll say over and over “Put Frozen song on” until I put on the Frozen soundtrack so he and his twin sister can sing every last word and even act out “Let it Go.” (I won’t torture you with a video of that.)

The most interesting part of his day probably happens at school, which I am not privy to. But I can tell you that his school is an incredible place, where teachers have great respect for their little charges and where the children often direct their own learning. My son has become quite taken by the camera this year, and his teachers tell me that he’d rather stay behind the camera than in front of it. They send me some of his work once in a while.

Here is a picture of one of his best gals being hugged by a teacher.

This shot shows my son multitasking. He’s talking on the phone, “Calling Mommy,” as he told his teacher, while asking a friend to pose for a picture.

Here are a few still-life shot from his classroom environment, including his shoes — placed correctly.

I love photography, and it would be incredible if he made it part of his life. This thrills me so much!

After I pick the twins up from school, a typical day might include a visit to his speech therapist, or a trip to visit his occupational therapist at the horse farm, where he practices fine motor skills on horseback. Going there is like therapy for me because I get to enjoy the uncluttered outdoors and the quietude of nature and feel the sun on my face without kids pulling me in a million different directions. Other days, his twin sister goes to gymnastics – she loves it – or we just go home, eat lunch and take naps until it is time to pick up big sister from school. (Now that, my friends, is the kind of boring that I like.)

When we get finished with those things, it is time to make dinner. Of all the kids, my son is the one who asks most often to help in the kitchen. I usually cringe because I don’t feel like dealing with the extra effort it takes to instruct a child in the culinary ways,  especially a child that likes to lick and touch everything, and I mean everything. So we just wash our hands many times because I am trying hard not to shoo him away when he states matter-of-factly, “I gonna help.”

The other day I had him chopping mushrooms for vegetable soup with this super cool kid knife that cuts food but won’t cut skin. That was his only task, and then he was whisked away by his sisters to play outside in our backyard. I was proud of him for doing a good job — and proud of myself for having the patience to let him help – so I was eager to show us off to my husband when he came home from work.

“Can you tell Papi how you helped make dinner tonight?” I asked my son. He was stonewalling us, as per usual, babbling something incomprehensible rather than answering the question. Finally on my fourth or fifth try, he told his father:

“I put the poop in the soup.”

This kid is obsessed with poop, although just to reassure you, no poop was placed anywhere near the soup. It’s just a thing of his – and I guess a thing of ours, since we have spent the better part of two years training him to use the potty consistently and independently. At school, he and some of his best buddies make “poop soup” by stirring wood chips into puddles of water. And one day when I was making dinner, he came right up next to me, and out of the blue said “Whatcha makin’ Mommy, chicken poop soup?” (Um, no, son, I am not in fact making chicken poop soup, but thanks for asking.)

It’s fun to recount these tales about him, mostly because I just want people to know that raising a kid with Down syndrome is equally as wacky, frustrating, heartbreaking, uplifting and fun as raising any other kid.

I want to take this chance to thank some especially fascinating people who have made our son’s journey not just successful, but incredible. Everyone at school, most especially his two gifted teachers, has always done the utmost to encourage his confidence and boost him up as a full member of the community and as a student.

This is a typical preschool that happens to value all children, including those with special learning needs, and they have had much success in the past with children with Down syndrome, so my son is not the first. The wonderful parents in our class have told me that their children don’t notice anything different about our son and talk about him just as they would any other child in the class. When we go to school functions, he gleefully exchanges hugs like all the other kids and is just as quickly grabbed by the hand and led away to play. In these simple acts lies a wealth of happiness for this momma. Thank you all from the bottom of my heart.

These final shots reveal one big reason why he loves going to this school. Because he can be just like his twin, whom he admires above anyone else except his big sister. We put the twins in the same school but  separate classes because it gives them space to breathe and have their own identities. We feel they function best when they can do this little dance of being together and yet apart. When they separate and then come back into each other’s line of sight, a tiny spark is lit. And that spark ignites a million more, creating for all of us a life most interesting.

A teacher captured this sweet twin moment where he is watching her on the playground from inside his classroom.

 

See below to view all the other entries in the blog hop!!!

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And the Winner Is…..

…..Colleen! We did our drawing last night and Colleen’s name was chosen at random.

 

Thank you to Tara, Mark, Alicia and Colleen for commenting on my post and entering the book giveaway. I love hearing from my readers.

 

I will be sending Colleen a copy of “The Teachable Minute.” I hope she enjoys it and I hope you all will check it out too!

 

 

Every Moment Counts: A Book Giveaway

We are Luddites here at Modern Messy, at least according to our kids. We don’t have any iPads for them to play with and they are very rarely allowed to play with our phones. Nevertheless, they still have managed to learn how to navigate a computer and they do quite well on our laptops and PCs.

And even though we try to limit their screen time on these devices and on TVs too, the lure of putting them into “electronic zombie mode” as I like to call it, is often too hard to resist. It’s the only way to keep them quiet! But resist we must, and into this terrifying void comes a book that is perfect for our time.

Just released today, it is called “The Teachable Minute: The Secret to Raising Smart & Appreciative Kids,” by Dr. Connie Hebert. Its premise is simple: throughout our daily routines and outings with our kids, there are hundreds of little moments we can grasp in order to share knowledge, teach a lesson or just have fun. She said we need to minimize our use of devices when kids are around and use the time to show, ask and teach. Technology is not the most important thing, she says, THEY are. She recounts a sad story about a little boy at lunch with his mom.  He was trying to show her what he was drawing and engage her in conversation. The entire time, she never looked up from her phone — not once. This makes my heart hurt, especially for all the times I probably tuned my kids out in favor of the computer. I think we all can use some help in this area.

The book is a quick read and even if you just pick the parts you like and try to do one or two things she recommends, you will feel like a better, calmer parent. (Keep reading for how you can win a copy in my Book Giveaway!)

The book is divided into sections based on the places people typically go with kids — the gas station, the grocery store, the post office, a baseball game, the dentist’s office, the zoo, the rest room (a great place for teaching kids the words “men” and “women” or “family”)  — or the parts of your house that are meaningful to them — the kitchen, the yard, the the dinner table, the bathtub. She has these really fun and simple ideas for relating an idea to the activity in question and her suggestions are labeled for both little kids and older kids. For instance, in the bathroom you can teach the littles the concepts of Hot and Cold and think of other words that start with the same letters. And you can teach them how to scrub the tub, she says! Awesome, sign me up. For older kids, she suggests getting them thinking about how the water reaches the bathroom faucet or what they would do if the toilet overflowed or the sink clogged. (I guess “Run and get your father” is not the answer she was going for?)

More poignantly, she also has suggestions for teaching them about what happens at a hospital in case they ever have to go there (our twins did) and what to say at a funeral to those grieving a loved one (we’ve been in that situation too). The ideas are very straightforward and would be helpful to any kid in that situation. The key is just making the foreign accessible and practicing what to say or do.

I personally learned some very practical information, such as in the section on taking your kids to visit a college campus. What an interesting idea for a day out, by the way. And it’s free! She gave a tip for teaching older kids to stay safe in parking lots or dark streets, especially if they feel someone is following them. Start walking fast in the direction of your car or dormitory and call out “Hey, I’m coming! How are you?” This will make the follower think there are people around. Now that’s news you can use. I hadn’t thought of that before, but that’s a good tip for anyone.

Dr. Hebert is someone I met in my online travels and interviewed for a great post about encouraging a love of reading in your kids. After that, she kindly sent me her book and asked me to write a little blurb for the cover, which I enjoyed doing.  I think my readers would enjoy the book too, so I have a little treat for you. Anyone who responds to this question with a comment below will be entered into a drawing for a copy of the book. I’ll keep the contest open until Thursday night and announce the winner on Friday morning.

Here’s the question: what is your best tip for turning a boring or stressful part of your day with the kids into a fun moment?

No judgments here. If your answer is “Stuff ’em full of jelly doughnuts,” or, “Throw a smartphone in every grubby hand,” so be it! My two favorite things to do are turn on some singalong music (and that could be anything from Mother Goose to the Beach Boys to the Ramones) and talk in silly voices. I have this super goofy persona named Franz that I bring out when the kids aren’t listening to me. My oldest is tiring of this, so for her I often will try to think of some absurdity that begins with “Imagine if…” She’s very good at it too. She likes to imagine what it would be like if we had 100 copies of our twins. Or what it would be like if birds were wearing hats made out of newspaper and betting on horse races. (Actually, it is me who wonders that, but who’s keeping track?)

OK, so ready, set, go……

Down Syndrome: The Measure of Intelligence

What is considered intelligent varies with culture. For example, when asked to sort, the Kpelle people (a tribal ethnic group in Liberia and southern Guinea ) take a functional approach. A Kpelle participant stated “the knife goes with the orange because it cuts it.” When asked how a fool would sort, they sorted linguistically, putting the knife with other implements and the orange with other foods, which is the style considered intelligent in other cultures.

            Credit: Wikipedia: Glick (1975) reported in Resnick, L. (1976). The Nature of Intelligence. Hillsdale, New Jersey: Lawrence Erlbaum Associates. 

Here’s what this has to do with my 4-year-old son with Down syndrome:

Because of his genetic anomaly, Trisomy 21, which means possessing three copies of the 21^st chromosome instead of two, my son and others like him have been deemed “intellectually disabled.” Or, a term that is thankfully falling out of favor even in medical circles, mentally retarded.

To come to this conclusion, researchers and psychologists have administered IQ tests that by and large are incapable of accurately determining the true abilities of people with Down syndrome. There are a number of reasons why they aren’t completely accurate, even though they may be the best tools available. But the most obvious is that they fail to take into account that people with Down syndrome cannot often easily express to others all that they know, either linguistically or through other means of communication. Their receptive language skills (the ability to receive and process information) are typically much stronger than their expressive language skills (their ability to give back).

Copyright © jaya vijayan, via Flickr

So if my son were to be given a similar sorting test to the one described in the opening, and if he were, say, to put an Elmo doll next to an Elephant because those are two of his most favorite things in the world, a researcher might deduct points. You see, Elmo goes with Big Bird and the Big Elephant goes with the Baby Elephant and that’s all there is to it. And anyway my son would not be able to explain about Elmos and Elephants being his favorites unless you were to ask directly, to which he would reply an enthusiastic “YES!”

So who is the fool in this scenario? (In one case, it was me. For proof, please check out this short post of mine, an all-time favorite.)

What if people whose brains differ from the norm aren’t deficient in intelligence, but they simply have a different kind of intelligence? What if they are just part of a different “tribe,” that adapts its intelligence to the world it is functioning within?

Why is this lady asking fanciful questions that cannot be resolved? Well, I do at least have an answer for that one.

You see, I have been inspired by a fellow blogger, Rebecca, over at The Bates Motel. She hosted a very well received blog hop last month asking writers and readers what they would like to see revealed, medically and scientifically speaking, about Down syndrome during their child’s lifetime.

My answer is two-fold:

First, I would like to see our culture become more open-minded about traditional intelligence, and to realize that there is beauty in the variability of intelligence. And to stop correlating the quality of a person’s “output” to his understanding of the world and to his essential worth. Some of the most fascinating people I have met are non-verbal or struggle with communication. My son is quite a talker, but he still falls into the latter category.

Second, I would like to see the development of cognitive tests that more accurately measure the strengths of people with Down syndrome. There will probably always be a need for testing, at least if a person with Down syndrome is going to be part of the school system or receive therapies or other interventions. Our son is not yet 5, so we haven’t been subjected to school-based IQ testing, but I am not looking forward to that day. I hate skill-based tests of any kind, because mostly they show how my son does not “measure up.” Testers often talk to parents with sternly sad eyes, peering down at you with all of their knowledge to deliver the “news” that your child’s scores are below what is normal for his age.

More to the point, these tests – any tests — fail to take into account our son’s quite sophisticated sense of humor and incredible memory for stories and songs. But I do realize that tests can have value, especially if they can measure whether a certain teaching approach or therapy is working to help him learn or to improve his memory. Like any parent, I want all of my children to learn how wonderful and complex the world is, and to retain that knowledge so they can add to it as they grow.

My wish for better testing, at least, may become a reality in my son’s lifetime. And even if he doesn’t benefit much from it, just the thought that it is happening, that dedicated scientists even care about this, makes me feel euphoric.

Through the magic of Google, I discovered that the Down Syndrome Research Group at the University of Arizona  is working on this very thing: cutting edge cognitive assessments. The research began a few years ago, and it was big news at that time, so I’m not the first to write about it. But I was curious about the status of the tests, so I contacted Professor Jamie Edgin, a developmental psychologist and one of the group’s lead researchers, and she agreed to an interview.

Basically, her group is developing tests that will piece together a “cognitive profile” specifically for Down syndrome, assessing skills across various domains like receptive and expressive language, memory, executive function and flexible thinking.  This can help us, Dr. Edgin said, look at “the peaks and valleys of where skills lie.” In general, she said, the problem with an IQ score is that it represents “an average score that doesn’t mean much.” So if specific skills can be more accurately measured, I asked her, then what does this mean, say, to a parent whose child with Down syndrome is in the school system?

“The idea is that IQ provides only a score that qualifies a student for services,” Dr. Edgin said. ”it does not help plan those services. To do so, an assessment must be made of individual skills in language, reading, numerical skills and ‘learning’ skills such as the ability to form associations between information and problem solving. Assessments that cover this range of outcomes will help teachers to discover strengths and areas of weakness. For instance, while a number of children with Down syndrome may have difficulty with expressive language, their receptive skills or problem solving ability might be stronger. If a teacher knows this information, the teaching plan could capitalize on the child’s problem solving strengths. An overall IQ score can’t tell you that. “

© Richard Bailey, via Flickr

Collectively called the Arizona Cognitive Test Battery, these tests are administered to people with Down syndrome ages 11 to adulthood using a touch screen. The tests probably won’t be ready to use in school systems for several years, said Dr. Edgin, and that is assuming an agreement could be reached with a major testing company that would distribute them in schools. Right now, the tests are still in their first year of a five-year review process.

But the beauty of these tests is that they can be administered to people who are non-verbal or have limited verbal skills. Right there, this is a major departure and improvement upon traditional intelligence tests for school-age children, which rely heavily on verbal feedback. Dr. Edgin told me that some children who are non-verbal have completed the tests on the Arizona Cognitive Test Battery. “We’ve been able to tell that they can make connections between information and can show us this using a touch-screen computer,” she said, and the researchers are able to get a better understanding of their abilities without needing language.

Dr. Edgin also told me that some colleagues at the UC Davis Mind Institute in Sacramento, led by the institute’s director, Dr. Leonard Abbeduto, are working concurrently on assessments for people with Down syndrome ages 6 to 23 that analyze the structure and syntax of language but are conversational in nature and based around the lives and interests of the person taking the test. For instance, the interviewer will ask about pets and hobbies and other situations that are fresh in mind, Dr. Edgin said.

Traditional language assessments, for instance, “are not very well suited to individuals with intellectual disabilities,” Dr. Edgin said, because they require the test-taker to process a lot of information in a very short period of time and repeat back what someone else has said, which can be hard for people with Down syndrome because of working memory constraints.  People with Down syndrome are very sensitive to failure, Dr. Edgin said, and they often get stressed out on more traditional language assessments because they really want to do well but they may not understand what is being asked and cannot produce language quickly.

Dr. Edgin also made sure to point out that “IQ is just one measure” of functioning and that there are lots of different things that people with Down syndrome can do very well. Many, she said, “end up doing functionally really well and being integrated into the community” despite a lower IQ.

This resonated with me; I have always worked hardest on functional skills with our son, like teaching him to dress himself and use the potty, rather than on academics. Of course, now that summer is winding down, I’m realizing we might need to hit the books a little harder!

The Arizona test battery from Dr. Edgin’s group is currently being used in clinical research to help scientists understand the effectiveness of drug therapies to improve cognition. For instance, she said, Roche has a drug currently in adult clinical trials that lessons neural inhibition in the brains of people with Down syndrome, and the Arizona Cognitive Test Battery is being used there. (Neural inhibition prevents neural activity and the formation of new connections.)

The test battery is also being used in the Down Syndrome Cognition Project, a multi-site investigation of the genetic basis for the high degree of variation in cognitive ability among people with Down syndrome and alongside neuroimaging studies by Dr. Julie Korenberg  at the University of Utah.

What is striking about all of this, Dr. Edgin said, is that even five years ago, “there were lots of people who were hesitant to start work with this group,” meaning Down syndrome research, “because they were worried that many of the cognitive tests wouldn’t generate good data.”

“What we’re really proud of,” Dr. Edgin said, “is that our Arizona Battery tests show that you can in fact do this type of research, that there are ways to do it,” and measure progress. “We spent a lot of time putting out that message,” Dr. Edgin said, ”and now new people are starting to work in this field.”

Research into Down syndrome is a really “up-and-coming” area now, Dr. Edgin said. When she was in graduate school she began by studying autism but was very surprised by the lack of inquiry into the cognitive psychology of Down syndrome, so she switched her focus. Now, she said, the research that she and her colleagues nationwide are doing regarding cognitive testing has the potential to answer important questions that can have an immediate impact on people’s lives.

In fact, she said, this has already happened: data from the Arizona Test Battery helped a testing company that supplies some of the Arizona Battery measures to refine its methods to be targeted more effectively for people with Trisomy 21 and other intellectual disabilities.

“You don’t always have that kind of immediate impact in science,” she said. “It’s very rewarding.” She said that in refining testing procedures, her group has learned – and taught other clinicians – not only how to use the tests more effectively, but how to best work with people who have Down syndrome. In Dr. Edgin’s lab, the battery of tests is also being used to measure patterns of cognitive performance in relation to factors like obstructive sleep apnea, which occurs in at least 50 percent of people with Down syndrome and as many as 100 percent according to the National Down Syndrome Society.

Dr. Edgin’s team is also applying for a grant from the National Institutes of Health to fund an Arizona Memory Assessment for Preschoolers™ that would allow teachers to assess short- and long-term memory of students with Down syndrome using real objects and manipulatives. This would be at least six or seven years away from being put into use if the grant is awarded.

Throughout our conversation I got the very distinct sense that here was a person who truly cared about the “subjects” of her tests. She took great care to explain how the new tests would play to the strengths of people with Down syndrome and give a broader, more nuanced picture of their abilities. I never got the sense that she thought people with Down syndrome were in need of fixing, which is what we parents often worry that science wants to do to our children: either “fix” them, or eliminate others like them from the future population.

So I felt comfortable asking her a few philosophical questions about the scope and purpose of drug research. (For instance, Research Down Syndrome, which is supporting the work that Dr. Edgin’s group is doing, also finances inquiry into drug therapies to improve cognition and memory.) Questions about this have nagged at me, and I know they have for others too. Of course no one has definitive answers to such heavy questions, but I wanted an insight into the thinking of this particular scientist, who is on the front lines.

Parents worry, I told her, that all of this research into medicine to alter the brain functioning of people with Down syndrome is somehow aimed at changing them, because we worry that society does not appreciate them for who they already are.

“I can understand why they would worry about that,” Dr. Edgin said, “but at the end of the day, the drugs are unlikely to change who people with Down syndrome are, but they are trying to give them a boost. While findings from animals models show dramatic changes, in humans it is less likely we will see a radical change.” She compares this to parents she knows whose children take medication for ADHD. They were terrified at first, but found that it has simply given them a little help at school. “That’s probably what we’ll see with Down syndrome,” she said. “The drugs will give them a boost and allow them to take better advantage of therapies and other treatments.”

It’s one of those things, she went on, “that if a drug were to go through and be marketed, parents would have the option to try it. It may give their kid a boost, it may not. But we’ll never know if that boost is available to some children unless we go through the trial.” For example, some parents give their children a cocktail of vitamins in the hopes it will improve memory or cognitive functioning, and anecdotal success is reported but these supplements have not undergone clinical trials. Going through the whole process to get a drug that is regulated by the FDA, she said, is much more effective than having lots of different supplements that are not tested for efficacy or unregulated.

As for me, I’m not sure I’d be jumping up and down at the chance to give my son a medicine that may provide a “brain boost.” As things stand right now, he’s doing great, but I’m aware that his need for complex thinking will only grow as he gets older. I imagine by the time such drugs are thoroughly tested and approved for use, my son will be a teenager or nearly so, and we’ll have a family discussion about it then. But all this is not about me, or him. It’s about the entire Down syndrome population, and some families may welcome this option, so I am heartened to know this is an avenue of research.

One other thing I was curious about: Is Dr. Edgin concerned that the recent development of prenatal tests to screen for Down syndrome at very early stages of pregnancy, thus potentially making it easier for women to choose abortion, will make the need for Down syndrome research obsolete?

“At the end of the day, it takes a while for these things to be implemented,” she said, meaning the rollout and usage of the new prenatal tests, the effects of which it is still too early to determine.

“It is possible that the population will be less,” she said, “but it’s not a rare disorder. And anyway, there are all the people now who have Down syndrome and we have an obligation to help them.”

“I can see why people might be concerned,” she said, “but from my perspective, it’s not an issue I’m worried about. There will be work to do and I’m going to do it.”

***

Thoroughly Modern Messy receives nothing in exchange for talking about Dr. Edgin’s work; this post is meant only to inform. Funding for the Arizona Cognitive Test Battery is provided by the Down Syndrome Research and Treatment Foundation, Research Down Syndrome, the Arizona Alzheimer’s Research Consortium and the Anna and John J. Sie Foundation. “But, we are seeking funds at the University of Arizona for our work, including the gift of a chaired professorship for me so I might be able to build our research and training program in Arizona and see many of these projects through to completion,“ Dr. Edgin said. For more information on what her group is working on, click here.

In the Film “Any Day Now,” A Loving Portrait of Down Syndrome

The film “Any Day Now,” starring Alan Cumming and Garret Dillahunt (known for his role as the father on “Raising Hope”), is billed as story about the struggles and bigotry gay couples have faced when trying to adopt a child.

The fictional story, set in 1979, is told very poignantly and the plot moves at a fast clip. Alan Cumming is absolutely thrilling to watch; his character’s vulnerability and inner strength come across with all the subtly of a sledgehammer, but he is very authentic and you immediately want to root for him. Oh, and his voice! If you’ve forgotten about his Tony-winning performance in the Broadway revival of Cabaret in the late 1990’s (or were too young to have heard about it), this is your chance to be reminded how lush and haunting his singing voice can be. The movie is worth watching for that alone. And it’s currently available on Netflix, which makes it easy to watch.

But for me, what truly stood out about the film was its straightforward portrayal of a young teenage boy with Down syndrome. The boy, Marco, is a neighbor of Rudy, the character played by Mr. Cumming. Rudy takes Marco under his wing after the boy’s junkie mother ends up in prison because he can’t bear the thought of the boy being placed in the foster care system. What I loved is that Rudy does so without a trace of pity for Marco’s “mental handicap,” as it is referred to in the film. He does this because he is a caring person who sees a child in need, and that’s all there is to it.

The film does not resort to treacle in talking about Marco. In fact, his Down syndrome is barely mentioned, and to me, this was its genius. To be fair, Marco’s character, thought central to the plot, is a supporting one; the story is really about his parents. After Rudy falls in love with Paul, a closeted gay lawyer played by Mr. Dillahunt, he enlists Paul’s help in becoming Marco’s temporary guardian and eventually the two petition the court to become his parents. Along the way, they create a loving and playful home for Marco.

Never is the idea expressed that they have taken on an extra “burden” by caring for someone with special needs. (Perhaps because fighting a culture and a court system that viewed gay couples as essentially perverted and corrupting of children was burden enough.) At one point, Rudy and Paul take Marco to the doctor for a checkup, probably his first in many years, and the doctor rattles off a list of the boy’s current and potential medical problems. Rudy quickly retorts, with annoyance, “And the good news is….?”  The doctor pauses; he seems compassionate. “Well, I just want to make sure that both of you understand that raising a child with Down syndrome is a major commitment.”

“We got it,” Rudy says confidently, smiling at Paul. “We signed up for the gig, didn’t we?” The doctor wasn’t finished. “He’s never going to go to college, or live on his own. What you see is what you get.” Rudy nods his head quietly and the film cuts to another scene.

This part rang so true as holding up yet another mirror to our culture. When new parents are told their baby has Down syndrome, whether prenatally or after the baby’s birth, often what they hear first is a list of real or potential health threats with a generous side dish of “won’ts.” This was true decades ago, and it’s sadly still true today much too often, even though people with Down syndrome are living into their 60’s and are included with their typical peers in all walks of life, from education to employment. More than 200 colleges now have programs for students with intellectual disabilities. It is becoming more common for people with Down syndrome to get married, live on their own and learn to drive.

Support groups, advocates and medical professionals have been working together to provide a more balanced picture of life with Down syndrome to new parents. Some local groups, including the one I rely on for support, the Down Syndrome Association of Greater Charlotte, have a Parents’ First Call program that connects expectant parents to families who can talk about what it’s like to raise a child with Down syndrome. Last year, Massachusetts joined just a few other states when it passed a law requiring that balanced information be provided along with prenatal diagnosis of Trisomy 21. The Lettercase booklet, Understanding a Down Syndrome Diagnosis (available free as an e-book), is considered the gold standard for such information by medical professionals nationally.

 ♦

The filmmakers of “Any Day Now” were clearly concerned with raising viewers’ ire about the treatment of gay parents, historically and currently, and that they did – I have never been so angry while watching a film in recent memory.  But they also succeeded in doing something they may not have intended: to portray a older child with Down syndrome as simply a child like any other, a person in his own right. This may not seem astounding, but loving portrayals of minor characters with disabilities are not plentiful in the movies; often they are made into objects of pity or viewed as inconsequential or as token members of the cast. In this movie, Marco was the thread that tied everything together —  a funny, fascinating, lonely person who inspired great love.

Marco has his favorite belongings — I teared up at the opening scene when I saw what he was lovingly carrying around, because my son, who is 5, loves something very similar. Marco brings joy to his adoptive parents, he tries hard at school and is beloved by his teacher. He is incredibly sad and confused when neglected by his mother, like any child would be, but he thrives in the care of Rudy and Paul, finding his true home with them.

Ultimately, this film is about happiness and love, how we must embrace them wherever and whenever they are found and look beyond merely superficial “differences” like sexual orientation and disability. But be warned: this is not always a happy film, so make sure you are ready to handle the emotions you will feel and keep a box of tissues handy.