Tuesday, July 29, 2014

Flowers for Algernon and the Development of Cognition-Enhancing Drugs for Down Syndrome

I wrote this post back in 2009, before I learned so much more about clinical trials and the cognitive drugs that are on the horizon for people with Down syndrome, and know that they're not designed to *change* anyone. I also wrote this before I learned of the devastating increase in early-onset Alzheimer's disease in people with Down syndrome and the need to find answers that will benefit not only people with Ds, but with the human population as a whole.  I find my perspective in this interesting, though, written when Sammi was just 3 1/2, when I was quick to jump up on my high horse and decry any kind of perceived social injustice against people with Ds or other cognitive disabilities. Would I support the cognition-enhancing drugs that are being tested now? DEFINITELY. If, as they're purported to be, they're safe and proven effective and help my daughter increase her academic and self-help skills without changing her personality, bring 'em on.   

November, 2009

I read a very interesting article yesterday, posted in Wednesday’s Los Angeles Times newspaper. In a nutshell, it documents research currently being conducted to develop a “cure” for Down syndrome. Setting the fundamental intent of the article aside for a moment, I need first to harp on a few little details that are grating on me like nails on a chalkboard (or like Samantha grinding her teeth!). I thought reporters were supposed to do their research first before writing an article (especially for such a highly circulated publication!). The term “cure,” used several times in the writing, is tremendously inaccurate. Down syndrome is caused by an extra copy of the 21st chromosome which is present in ALL of the cells (unless the person has mosaic Down syndrome, where only some of the cells have the extra copy). You can’t “cure” that. Now I’d swear that the first time I read the article, they referred to people who “suffer” from Down syndrome (as many articles tend to do, which drives me crazy), but now, upon re-reading, I don’t see any reference to that. Could they have changed the wording somewhere along the way? Maybe I just wanted to see that so I could be extra-annoyed. Just as an FYI, my daughter does not suffer in any way. While I would have preferred it if she had been born without a heart defect that she needed surgery to repair, she’s certainly not suffering! Finally, the article calls Down syndrome a “disease.” Uh, correct me if I’m wrong, but genetic issues are not diseases. I feel like that wording perpetuates the fears of the ignorant that they can actually “catch” Down syndrome. At least People First language was firmly in place throughout the article.

Now, the intent of the article was to explain that research has shown that the brains of people with Ds are unable to make norepinephrine, a hormone and neurotransmitter. The drugs Droxidopa and Xamoterol both convert to norepinephrine in the brain, and in mouse trials, mice with a replicated version of Down syndrome responded with increased, “normal” cognitive functioning when given Xamoterol. However, the effects were short-lived, and the mice returned to their previous state quickly.

While I do find this research very interesting, as soon as I read this, I was reminded of Flowers for Algernon, a book by Daniel Keyes written in 1958. I read it for a class in 9th grade, and was immediately both haunted and obsessed by this bittersweet tragedy about Charlie, a man with a cognitive disability who becomes the first human to undergo an experimental surgery to increase his intelligence artificially. A mouse named Algernon was the first successful recipient. Throughout the story, Charlie, placed under a virtual microscope by doctors and researchers, begins to show all of the positive signs of an increased mental capacity. He eventually becomes a genius, eclipsing the intelligence of those around him, and continuing his own research on the procedure, only to discover that there is a flaw in the research, and that (in the fictional context of the book), “Artificially-induced intelligence deteriorates at a rate of time directly proportional to the quantity of the increase.” Algernon deteriorates, becomes unstable, and dies. Charlie begins to deteriorate as well, evident to the reader through his own words in progress reports he wrote throughout the trial.

I cried at the end of this book, and still get teary thinking about it. It posed, at the time, fictional ethical and personal dilemmas that seem to be now coming to fruition. Would you subject someone you love for who they are and the way they are to a treatment that would change them, possibly only temporarily? Would you really want to know what they would be like if they had a higher intelligence? Would you be prepared for personality changes in this person? While it all sounds very tempting, I know that my answer would be an undeniable “no.” I have sometimes tried to think about what it would be like if my daughter didn’t have Down syndrome. It is always a brief thought that gets shut down and put out of my mind immediately. I can’t imagine what she would be like, and I honestly don’t want to. She is Samantha. She is my beautiful, smart, funny, precocious, stubborn, amazing daughter, just as she is. Anyone different in her place would be a stranger to me. Would I change some of the physical issues that affect many people with Ds? Certainly. I would love to remove heart defects and thyroid problems, celiac disease and early-onset dementia, leukemia and atlantoaxial instability. The list could go on. I would also love to remove some of the challenges society places in the way of people with disabilities, and create more awareness. But would I change her? Nope. Not even for a day.

Monday, July 28, 2014

The Cautious Child: Down Syndrome, or Only Child Syndrome?

Gregarious to a fault, loved and supported constantly and unconditionally by family and peers, smart, funny, outgoing.  Graced with an extra chromosome, something that fills my head with images of people who are easily found on the dance floor, as a member of a cheerleading squad, an active participant in Special Olympics, loving baseball, soccer, ballet, swimming, face time in the spotlight of all things fun.

The formula would suggest self-confidence, a willingness to learn and grow through the trial and acquisition of new skills, carefree and flirtatious towards the lure of the unknown.  The formula would suggest a lack of inhibition, an ability to enjoy FUN things, to want...no...to need constant stimulation and activity.

The only child of an only child.

Now the formula changes, begins to take on a new form, morphing into something completely different. 

I have long believed in Only Child Syndrome, and thought I'd made up the term until just now when I thought to Google it.  It turns out that there are many others like me, who can easily acknowledge and name the vast array of benefits and challenges unique to those of us raised on our own. 

One site outlined the following characteristics:

Conversation skills develop early - only children learn to converse with adults better than their same-age peers.  This is true for Samantha.

She has strong opinions, and a sense of entitlement.  What's mine is mine...

She enjoys her down time, her alone time, her comfort zone of being at home.

And a tendency to be *extra* cautious.  This one was not listed on the site, but I'm curious about its causes.

I was the same way, to a point.  I remember being terrified of learning to swim, of diving at summer camp for the first time, of strapping wooden sticks to my feet and sliding down a snow-covered mountain (teaching me to ski was likely torture for my parents and my ski-school instructor, although thankfully I'm a proficient skier today), and I even remember being terrified as a toddler being strapped into the child seat on the back of my parents' bikes. 

There's fear in not being in complete control of your environment.  I have learned that as an adult.

Samantha is terrified of swim lessons, will scream bloody murder and hold onto your neck in a death grip of fear.

She is hesitant and resistant to trying new things, experiencing new experiences, going new places, participating in a group.  Ballet classes are out of the question.  So are sports. 

We've tried.

I feel like her resistance, her caution, comes from a need to be in control.  I feel like the need to feel in control can come from having been an only child, from not having a readily-handy peer model to back you up in new endeavors.  I'm not saying that's always the case, but I find so many little similarities in Samantha and myself. 

But she takes it all to a whole new level.

I actually started this post a few months ago, but put it on ice while I took my little blogging break.  But something happened on Saturday that really brought it all back to light.  Something that really shook me up, caught me off guard, and concerned me.  Something that takes the term "cautious" and gives it a whole new meaning. 

She asked to go to the playground.  There's one in the school yard directly behind our house, and we started out there.  But she wanted swings, and the swings are in another playground a short distance from there, nestled between two rows of townhomes.  After pulling herself up onto the swing seat, she decided it was too hot, so she wanted to play on the climber to the slides and tunnels, etc. 

We've been going to that playground regularly for years now, since she was 3.  She'd always been hesitant ascending to the platform in any way other than the regular stairs, but gradually became confident with the "foot hold" ladder thingy.  I can't really describe it, and can't find a picture that accurately depicts this, but here's something similar.  The main difference is that instead of the snaking pole that is stepped on in the illustration below, it actually has small steps coming out of the sides at intervals, to climb up, so it's even safer than this.

And once she was able to climb it, she would occasionally play-act that she was scared of heights, pretending to whine about it, then step forward onto the platform and that was that.

On Saturday, now years after her proficiency on the equipment, she climbed the 4-5 feet up to the top step, then began to whine that she was scared, that she was stuck "forever," etc., etc. 

I've heard it all before. 

I continued to sit where I was, just watching, knowing that in time, she'd continue her journey and take that tiny step forward, or descend back down the way she had come. 

But she didn't.

And she wouldn't.

And she was honestly, seriously, no-kidding, in distress

Thinking she was just being silly, I walked over and asked her to step down.  She wouldn't.  I asked her to step forward.  She wouldn't.  I put my hands under her armpits and told her to let go so I could lift her down.  She wouldn't.

And then the tears started.

And she began to shake in terror.

And she began to wail.

And I'm pretty sure all the neighbors in the surrounding townhouses were wondering just what the hell was going on.

I tried everything.  I climbed up to the platform and tried to bring her across to me.

no go

I climbed up and sat on the top step next to her, my arms around her, my knee bridging the small gap between the step and the platform, begging her to just step on my leg like a bridge and walk onto the platform.

no way

I tried reasoning with her, adding a little guilt of age and ability to the mix.

again, nope

And she cried harder, and I had to repeatedly wipe her nose with her t-shirt, in the absence of anything else useful.

And the tears began to roll down her arms.

And, 20 minutes later, I knew I needed help.

Thankful that there were no other children on the playground during all of this, I called Steve, who was home napping, and asked him to come help.  He was irritated at first, wondering why on earth he'd have to come over there because his 8 year old wouldn't get down off the climber, but when he got close, when he saw how truly distressed she was, he knew

Calmly, he tried everything that I had already tried, and I was hopeful that she'd be more responsive to Daddy. 

But she wasn't.

He eventually went up to the platform and, through a tiny bit of trickery and manipulation, managed to pry her hand off the pole and guide her to him. 

It was truly heart-wrenching. 

And even more-so, truly baffling

But we had to be careful how we addressed it with her.  We couldn't be angry.  We could only just tell her it's okay to be scared sometimes

And it hurts me to even think that she'd been that upset over something that simple, that ordinary, that familiar, that irrational

What went wrong?

Could this be a manifestation of her overly-cautious nature, or something else?  An extreme example of my definition of Only Child Syndrome?  An over-expression of a gene (possibly the one for being annoying, but more likely the one for self-preservation) on the extra 21st chromosome?

My child is a cautious child.  I, before her, was also a cautious child.  Perhaps it's just a simple case of personality driven through a maternal genetic link.

I'm interested in your stories, here, about similar instances with your children with or without Down syndrome, only-children or children with siblings.  Maybe there's a link somewhere, maybe there isn't.  Maybe I'm just hoping there is, so I can rationally explain her behavior.  Maybe she'll grow out of it.  Maybe this was a one-off.



Wednesday, July 23, 2014

And Now the *Real* Stuff About the NDSC Weekend

I touched briefly on our weekend at NDSC Indy in my last post, a broad generalization of our 3 days there, devoid of any real color or detail that might give you any insight into exactly what it was all about and what we got from it. 

Indy was my 3rd NDSC conference.  My first, two years ago on my home turf in DC, was good, but I was beginning to learn the limitations of a child in a grown-up setting, in a place where the hustle and bustle of adults and the timbre of big voices and even bigger laughs and cheers can overwhelm a sensitive child such as Samantha.  Steve and my mother also came, but it worked out best when Sammi went home with one of them and I hung out there on my own.  My second conference was last summer in Denver, which I attended solo.  I was freed up to volunteer on the IDSC table, attend the film festival, and go to a few research sessions, where I learned some pretty amazing stuff. 

This year I gave it another go, and took Samantha and my mother along with me to Indianapolis. 

And Samantha hated pretty much every second of it. 

Mom and I did some tag-teaming, each taking turns attending sessions while the other did the child-entertainment duties.  Happily, once we managed to get her out of the room each day, the child was open to holding court in the lobby (the unattended shoe-shine stand with its large, throne-like leather seats was her favorite venue) to read her books or play endless hours of "doctor" with any child who happened by.  On occasion the act of moving from point A to point B was cause for a tantrum or, much to my horror, doing a runner!  This kid is totally not an elopement risk, not a runner, but for some reason, most likely because she knew it would totally get a rise out of us, she made a break for it not once, but twice.  Once was outside in the lines at the food trucks (those are a topic for another post altogether, I think...those of you who were there are all probably nodding in collective agreement that the situation could have been a lot better...).  I proved to the world at that moment that yes, I do get really mad.  And yes, I do yell at my kid.  I'll never forget a voice behind me, as I bolted after my bolting child, saying, "And...we have a runner!"  In mid-stride, in my head, I was, like, "Me?  You talking about my kid?  No way..."

With old friends, Kayla and Lucas

But, other than that, the conference was really pretty fabulous.  I actually got to meet and spend time with many, many of my Facebook and blog friends, able to now put faces to names.  My mother learned what it was like to be related to Samantha, the star of The Bates Motel blog, when she got mobbed in a restaurant at lunch time while I attended a session.  Got a text message from a friend who had been present at said mobbing, telling me all about it, worried that my mother may never recover from it.

She was okay.


And so was my impulse-control-challenged kid who was completely disinterested in the mobbing, focused instead on getting her hands on Moxie's iPad...and the next day at lunch time focused on getting her hands on Moxie's banana...  Hey, Moxie, got anything else my kid can take from you??

I think I've harped on enough about Sammi's bad behavior.

A few quick notes about the hotel.  The JW Marriott is beautiful.  I'm completely in love with their bath products in the rooms (Aromatherapy Associates - dude, this stuff smells sooooo goooood, and totally luxurious - you only need a tiny bit of the shampoo, conditioner and body wash, unlike the watered down crap I've gotten from other hotels).  The staff was amazing.  The location is great for some things (like running along the canal or going to a baseball game), and not so great for others (like finding shops or restaurants that a tired, hungry little girl doesn't mind waiting for/walking to).  It was easy to find your way around in (I've never seen interactive maps in a hotel!  Fabulous!), and the bathrooms were spotless. 

The sessions that most interest me at these events are the ones that focus on research.  I attended the session by Dr. Harpold and Dr. Reeves about "Advances in Down Syndrome Cognition Research" and the session by a clinical researcher from Massachusetts General, "Research 101:  What is a Clinical Trial and Why Participate?"   This is really an exciting time for Down syndrome research and the creation of drugs to boost cognition.  I know people get all weirded out when you mention cognition-enhancing drugs ("I would never change my kid!  How can you suggest such a thing?"), but the truth is it's not about changing someone with Down syndrome.  It's not about removing Down syndrome.  It's not about altering a personality or making a person into someone they're not. 

It is about enhancing abilities.  Our kids have issues with memory function, with decision-making and self-help skills.

They have issues with cognition

From Wikipedia:  Cognition is mental processing that includes the attention of working memory, comprehending and producing language, calculating, reasoning, problem solving, and decision making. Cognition is a faculty for the processing of information, applying knowledge, and changing preferences.

And yes, I want to enhance that for my girl. 

And there is a bright light on the horizon - some very promising clinical trials going on at this very moment.

My mother attended the session by Dr. Blumenthal on "Biomedical Research on Down Syndrome and Alzheimer's Disease." 

This is what keeps me up at night. 

People with Down syndrome are predisposed to getting early-onset Alzheimer's disease. 

What do I want for my daughter?

I want her to have a happy, healthy, long, productive life.  Alzheimer's has no place in this picture. 

And while the parents of the little ones with Ds are crowded into the sessions on speech, gross motor skills, reading and math, I prefer to focus on the future and hope that something can be done now, while she's still young, to alleviate the fears and destroy the monstrous shadow that threatens to take and alter her in her adulthood.  There is a lot of research going on right now into Alzheimer's and Down syndrome, drug trials seeking to eliminate the threat both for those with Ds and without.  And I'm optimistic that this can happen sooner than later. 

And before I turn this post into a pit of despair, a fount of doom and gloom, I'll finish my NDSC weekend wrap-up with a little more of the fun stuff.

On Saturday night I attended the dance alone, while my mother went up to our room to put my exhausted child to bed.  I was alone, but not alone.  Everywhere I turned, another friend to talk to.  And, through one of these conversations, I discovered that Produce, a film I had wanted to see that afternoon but that had been shown in a room filled above capacity, was being re-shown at 11pm.  I raced down to the room and got a private screening with 4 other people.  Great film showcasing an amazingly talented young actor with Down syndrome named David DeSanctis, who I was excited to get to meet on Sunday morning. 

Being there was like being with family.  I was surrounded by friends old and new, creating and cementing friendships that I know I will have for a long, long time to come.  I had a little moment there at one point, when a woman approached me and said, "Is that Samantha?  I read your blog!"  I didn't get her name, but based on that comment, I don't think I know her from Facebook, and think she's just a regular reader here.  That seriously made me feel good, and inspired me to come back and start writing again.  I wish I had gotten her name, though, and would give her credit for these last 2 posts and the many others I plan on writing, going forward.  Maybe I could tell her she pulled me from the cold depths of blog retirement.

Next year the NDSC conference will be in Phoenix.  I'm definitely planning on attending, one way or another, and can't wait to do it all again!  Good people doing good things. 

I love this club.  :-)

Wednesday, July 16, 2014


I'm not one to name drop.  The concept embarrasses me, except in the company of close friends or friends who have absolutely no idea what/who I'm talking about.  I've always been the one who was cool and collected when meeting or bumping into folks with highly-recognizable names, hiding my nervousness and possibly coming off as extra-aloof, much to my horror.  But I've had friends who gush.  Talk about horror!  I actually have felt sorry for them, wondering what the other thinks of them for being so over-the-top in their face-to-face accolades and songs of praise. 



Maybe I'm just a snob, a crappy friend, a bitch, whatever.  But for some reason my fear of outright rejection in pretty much any social situation has gotten the better of me and kept me pretty calm, if not painfully timid to the point of sabotage, keeping my own, true self well hidden below the surface where nobody even thinks to look. 

And then the moment is over, I bounce back, and it was like I was never even there, except in the cool, breezy rooms of my partially-constructed memory palace.

This past weekend, I was pretty star-struck at the National Down Syndrome Congress (NDSC) conference in Indianapolis, which I attended with my daughter and my mother.  I feel like age and maturity have provided me with the tools to function more effectively and efficiently when nearly overwhelmed with awe at meeting people I respect highly and feel I know so much about.  I'd originally planned to hide behind my kid, but she was so miserable and downright rude to everyone, I was left to fend on my own. 

Like I said, I don't like to name drop.  So I won't.  But I will say that rubbing elbows with such well-known scientists, writers, bloggers, founders, executive directors, self advocates, actors and doctors from the Down syndrome community was an incredible treat this year, even more so than in past years at NDSC.  I felt more of a connection as the names, mostly unfamiliar to me just two years ago, have bubbled up to the surface of my reality as a mother with a child with Down syndrome, as a person who continues to learn nearly every day, as a parent who is determined to do what it takes to ensure the health and well-being of my daughter into the future.  The names have become iconic, and important to me and to so many others.  They've become familiar and are respected by the community. 

As star-struck as I was, I actually felt a part of their worlds.  Down syndrome has brought all of us, lay-people and superstars alike, together into this club, this special place that supersedes title, education, socio-economic background, residence, religion, race, national origin... 

We are all the same. 

We are all here for the same reason.

We are brought together for our families, for our friends, and for those who have yet to discover this amazing place, but who will certainly be joining us in the future.

Rock stars of the Down syndrome world?  Yes, they exist.  But knowing that we all share common goals brings us onto the same playing field, creating a learning environment in which we gather and disseminate information, creating a sharing environment in which we expose our feelings, our hopes, our fears and our opinions (and appreciating differences in those opinions), creating a huge family, in which we care about one another.

NDSC Indy was a magical place. 

I'm not going to name drop, but I will say a tremendous Thank You to everyone I met, everyone I spoke to, everyone I listened to.  Every word was valuable, appreciated, absorbed.  Every interaction was special. 

Looking forward to doing it all again next summer in Phoenix.

May the stars continue to shine brightly.