down syndrome awareness month

Portrait of Sophie – Studying Trisomy 21 is complete. Amy, Sophie and Annabelle come to see the drawing in person. My husband, eager to meet Sophie, is also present. We gather in the studio and enjoy pizza.

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Part of me wants to write about the conversations I have with people about this study, about Sophie, and about Down syndrome. It affects more families than I can know when I begin the work.

My hairdresser, for example, has a brother-in-law with DS.  She tells me about his mother who advocated for him. He could have been institutionalized considering the era he was born into. Instead he grows up at home alongside his brothers and sisters. Now in his sixties, he lives in an apartment that he shares with a roommate. I listen, ask questions and wonder why I didn’t know this before now.

I’m in a waiting room this week and come across a magazine dedicated to Down syndrome. Has the magazine always sat here and only now do I notice it? I read an article about research and funding that reminds me…

I know someone who writes (beautiful poetry) and she also happens to research immunology. A few years ago we had a conversation about the immune system and rheumatoid arthritis (her area of study). I contact her and ask what she might know about Trisomy 21 and the immune system. Arpita responds generously.

(A note: If you follow my work, you know I only focus on details directly related to Sophie. This post is more general education about DS, in particular it is about the immune system.)

Trisomy 21. If you say these words to a complete layperson, they will find it lyrical, enchanting, exciting and even beautiful. But then you tell them what it is, and their smile fades.

Not a lot of people know that T-21 can have immunological abnormalities associated with it. As you rightly pointed out, not much info is available regarding the immune system in DS. It’s only now that we are getting an idea of what’s going on in these patients.  The immune system develops, but poorly. There is reduced numbers of cells of the lymphoid system. Those cells that do develop respond poorly to antigens and are unable to travel to site of infection or injury to do their thing. The cells divide poorly when they are activated by an infectious agent. Some cells are supposed to secrete antibodies of a particular type when they are activated and this process is also impaired. And thymus, the organ in which T lymphocytes develop, is rather small and underdeveloped in these patients, suggesting that the immune system doesn’t really get a chance to develop from the very onset. Again, the fascinating thing is that the immune system is not completely broken; it is just not strong enough to protect the poor child. 

I thought I finished the heart and lung area but with Arpita’s words, I come back to indicate the thymus gland (bright blue circles atop the heart – the lymphatic system strings throughout the body). I understand from a previous study, the typical thymus is larger when one is young and becomes smaller as one ages.

A body worker once told me it crystallizes suggesting the change a positive.

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Arpita continues…
There are other indirect causes postulated for the immunological abnormalities. These patients have poorly developed or malfunctioning digestive system, which makes it hard for them to assimilate nutrients. This could lead to deficiencies causing immune perturbations. Also, children with DS most commonly experience lung and heart infections, and many groups claim that this is because the architecture of the respiratory system is abnormal and the natural barriers which filter out infectious agents are less effective in such a setting.

What I find fascinating about DS is that despite the presence of a purportedly underdeveloped immune system, these patients are susceptible to autoimmune disorders. It actually makes me mad, you know…why would an already weak immune cell waste its resources in fighting its own body, when it should be fighting invading pathogens? Sadly no one knows why it happens. My guess is that it has something to do with the abnormal architecture of the organs where the immune cells develop early on. Events in thymus and bone marrow shape the repertoire of immune cells ensuring the survival of cells which are not only most potent, but also which will almost certainly not react against the body. If these organs have developed poorly or are missing certain vital components, this will undoubtedly affect the development of the immune system.

Are you familiar with the process by which immune cells move within the blood, within organs and across tissues? It is fascinating and beautiful documented through images and time-lapse imaging. It is an intricate dance of communication between molecules. There are bits and pieces of information that this movement and migration ability of immune cells is impaired in T-21. Again, no one knows why this happens, but lack of proper direction and mobility can significantly impair immune responses.

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Portrait of Sophie – Studying Trisomy 21, Mixed media on Paper, 80″ x  45″

So…I ask questions, research, and present what I come across and never know what’s to come next. Arpita and I end our conversation but not until she expresses something I take for my self.

…there is so much that we don’t understand about the human body, in particular how different parts communicate and intertwine with each other functionally. I think part of the reason is that because as young students we are encouraged to accept dogmas and hold on to them rigidly.

However, someone like you, an intelligent person with no dogmatic notions of the medical field, can look at the existing information with fresh, unbiased eyes, and hopefully help the rest of us to see important clues that we have missed. …good luck with your drawings.

I can hope. October is Down Syndrome Awareness Month.

The web of life…today I understand better everyone brings something to the table.


I want to take a minute to thank everyone who helped with the research for this work. In particular those of you that helped me gather and understand the information so I could work with it and write about it. Thank you Amber, David, Dominique, Arpita, Elisa, and Amy. And thank you Sophie, for the spirit you bring to the picture.

For information about Amy Silverman’s book visit the website→ My Heart Can’t Even Believe It

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Big sister Annabelle taking a long close look at the portrait.

“now, what the hell is a chromosome again?”

“The more you know, the more you know you don’t know.”
– Aristotle


The post title is a line I pull from page 8 of My Heart Can’t Even Believe It, A Story of Science Love and Down Syndrome,  Amy Silverman’s recently published book.  I appreciate the inquisitive and amusing attitude throughout the book. It’s honest.

IMG_9219When I talk with her about my interest in drawing Sophie, her daughter, I explain I want the work to serve as education. First I have to educate myself and in the process (mustering up all the elements of design I can) maybe I educate you. I should say the only confidence I feel on this day, is in my drawing skills. About the study of living organisms – I’m no expert and it appears to get more complicated as I go. (Star Trek’s Dr. McCoy comes to mind…I’m an artist, not a scientist!)

Some conclusions I’ve drawn:  I know more about balance when I look at an imbalance, I recognize the typical when I try to understand the atypical, and I look for order when I observe disorder. And I really dislike labels.

Genetic order – Genetic disorder

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Sophie’s Karyotype

Here is a copy of Sophie’s Karyotype ↑. Doesn’t it resembles a beautiful ancient alphabet? Trisomy 21 is a genetic disorder, describing three chromosome twenty-one’s instead of the usual two. Note Sophie’s ↑ are numbered and twenty-one is high-lighted.

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My drawing of Sophie’s karyotype (not numbered / not highlighted)

A Karyotype is a picture of genetic arrangement. It represents an individual’s complete set of chromosomes. Twenty-three inherited from each parent pair to set up a typical forty-six (total). Chromosomes are found in the nucleus of every cell in the body (except in the egg and sperm). Again, in Sophie’s case there are forty-seven chromosomes (3 twenty-one’s).

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Here is my version of a Sophie ↑ cell. All the regular parts are visible: the cell membrane dances the edge of the cell itself, mitochondria (red and package-like), golgi (bubbly and bright blue), endoplasmic reticulum (labyrinth-like green with red dots) and the larger round form to the right, enveloped in its own membrane, is the nucleus (the control center).  This entire structure is what we understand as the basic unit of life. I’ve detailed several large-scale cells and believe me – based on what I understand now – I will approach the next cell I map differently.

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Sophie’s chromosomes in the nucleus of a cell. I carefully place in the first ten.

I fill the nucleus with Sophie’s 47 Chromosomes. Remember, the nucleus is the control center.  It governs the work performed by the cell including growth, repair and reproduction.

Sophie has
forty-seven (one too many)…
chromosomes…
in every nucleus…
in every cell…
in her body.
Like a meditation I let it sink in.

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Nucleus complete with all 47 chromosomes set in.

Chromosomes, long strands of deoxyribonucleic acid, hold unique genetic information (think blueprint). DNA, the complex molecule shaped like a spiraling ladder, holds many (many) genes. There are thousands of genes within each nucleus. Genes act as code that direct and maintain the entire body. Every cell in our body holds the same code but uses it differently depending on the cell.

I wonder about all of this as I detail 3 chromosomes and direct the DNA (in the composition).

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I love drawing DNA. You’ll find the double helix spirals moving across all my anatomy study of the last few years. Somewhere I read that genes express (produce). I understand the word express in the context of art. Naturally I wonder about Trisomy 21, do the extra set of genes leads to over expression – over production? I don’t know.

So…what the hell is a chromosome?
Chromosomes are long strands of DNA. DNA, known as the code of life, houses for each one of us our unique genetic make-up.

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Sigh…this was hard to break down and understand enough so I can write about it.
#NotKidding.


A highlight : The Willamette Week, an alt-weekly in Portland Oregon, ran my profile drawing of Sophie on their cover.

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the feet and hands, and some trisomy 21 markers

Steeped in the study of Trisomy 21, I lay in general structure for my drawing of Sophie. I learn the spacing between the first and second toe is one of the characteristics of Down syndrome as well as are flat feet (pes planovalgus). Other markers may include smaller hands and fingers. And sometimes a deep, single crease across the palm of the hand.

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Feet
I have to admit when I see Sophie’s feet, I cannot wait to draw them.  As a Yogi, the feet are one of the parts of the body I am particularly aware of in every standing pose. You press the mounds of the feet, leveled and firm, into the earth – you root to rise. But what if pressing firmly into the ground (rooting) isn’t so simple. Low muscle tone (hypotonia) and loose ligaments  are contributing factors to a list of orthopedic problems associated with Down syndrome.

I’ve been in classes where Yogi’s spread their toes, an ability only hormonal change has made easier for me. Yes my toes have become more flexible as I age. In general, much of me is more flexible, but I know hyper-mobility is not a good thing. It may be caused (as in the case of DS) by low muscle tone and ligamentous laxity, and can be painful and lead to joint instability if not dealt with properly. A counterbalance to the musculoskeletal related condition is strength training (body awareness and directed effort).

Physical therapy is a regular part of Sophie’s life, her mom explains the afternoon we meet. No Yoga, she adds. Along with her big sister, Sophie also studies ballet. I’m surprised and have to smile when very spontaneously,  she grande jete’s across the studio and into another area of my house and then back again.

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Hands
I sketch the hands. The arms, in general, are not easy. I erase at least 3 (way more) rounds.  This one element in the image is deceiving as Sophie angles her hands back, giving me one more expression to figure out.

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Though her hands are on the smaller end, I don’t easily note other markers of DS. In Sophie’s case there is no single palmer crease. And if the 5th finger (pinky) curves inward, as it might in some cases, its subtle. Sophie’s thumbs are wider and flatter than average though the cause does not directly relate to DS.

I approach this study with the eyes of someone who is learning. I look more slowly and carefully than usual. I work to resolve nuance. In my Yoga practice yesterday, the teacher says attention is medicine. It is.

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Other stuff I learn…
The great toe, the first digit of the foot is called the hallux. The thumb of the hand is called the pollex.

About the red highlight on the toe(nails)…
In general I bring red into the area of the feet associating them to grounding energy. In particular, the red toenails tell the viewer Sophie regularly enjoys a fine pedicure (p. 23 of My Heart Can’t Even Believe it).

a heart in situ

Amy Silverman contacts me in February. She wants to have coffee and talk about our work and how it intersects. Our work intersects? Amy is managing editor of the Phoenix New Times.

We never meet for coffee though we keep in contact and on May 1st she comes to my studio.  Do you mind if I record our conversation? I’m impressed. Why don’t I think to do that when I want to remember things? Clearly we are trained different. We do a little catch up and then she tells me she’s written a book. She says it has science in it. We talk about my drawings and about how I write about my work. She refers to what I do as reporting. One thing leads to another and I make a plan to attend the upcoming book launch.

My Heart Can’t Even Believe It, A story about science, love, and Down syndrome is a story about her daughter Sophie. It’s actually about all of her family but in particular it’s about her youngest child born with Down syndrome.

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Amy tells the story of how her and her husband handle the birth of Sophie, and the life stuff that follows. She goes through medical details as they present themselves and as she tries to understand Down syndrome, also known as Trisomy 21.

She’s descriptive in a way that catches my attention. She takes what is complex science and makes it easier to understand (not easy, just easier). Her words have a visual impact on me. Every time she describes to the reader a physical symptom and/or procedure, my mind’s eye sees it (wants to see it).

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Amy and I first meet in the studio on May 1 and within a month (June 1st) I layout Sophie. I am working on a painting of my nephews daughter, my niece Pilar, who is 5. Because I have much to learn, I decide they’re good back and forth studies. I don’t have children and all of this is a type of learning for me. What is normal human growth and development? Do I use the word normal?  Will I use the words typical and atypical? Do I even use any of these words when I talk about a drawing?

While Amy writes about the more common features of Down syndrome and notes her daughter looks like other Down syndrome children more than like her own family, I see it different. Sophie is totally unique to my eyes. I look. And I have to look again.  I bookmark many things. As I work I go back to the book, to research material and to my notes. As with all my work – you learn as I learn.

Amy connects me with the Co-Director of the Pediatric Down Syndrome Clinic at Phoenix Children’s Hospital who generously makes herself available to me. I contact a research scientist who knows cell biology well. And I talk to a cardiologist who gifts me a couple of his medical illustration books by Dr. Frank Netter. One is about the thorax in general, while the other is about the heart in particular and includes the Atrioventricular Septal Defect that Amy describes in the early part of her book as a hole in her (daughter’s) heart. The book refers to it as Endocardial-Cushion Defect.

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The chapter’s name (the words above to the right) is where I get the title to this post. I have drawn the contour of Sophie’s complete body (studio shot in post). And as I go from part to part I can’t help but wonder how the 21st chromosome affects each and every one of her organs. Down syndrome associates to DNA (our blueprint) and an extra 21st chromosome, it is also called Trisomy 21. Right now – A portrait of Sophie, studying Trisomy 21 – is the working title.

I know the composition will include 2 hearts because the day I meet Sophie she tells me about her heart surgery – both of them. And she tells me about her feeding tube.

Thanks Amy, for bringing your work to my attention. And thanks Sophie for agreeing to let me map you. And thanks for the blue paintbrush you gifted me (If my memory is correct Sophie’s collection includes at least 300 paintbrushes). I refer to the color of the brush as turquoise (my favorite color) and Sophie corrects me, It’s more like aqua! She takes her mom’s cell phone and pulls up a color swatch. It’s true, the brush is aqua.

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Hey Sophie, do you know energetically, that particular blue is the color of expression and is found in the throat? It is.

For more about Amy and her book → My Heart Can’t Even Believe It.