Tag Archives: Genetics

It’s Dwarfism Awareness Month and I’m Aware that Most of Us Don’t Understand Genetics and Medicine

8 Oct

Bones(Image by Gema used under CC 2.0 via)
 
 
“Hey, I had a test question about achondroplasia today!” an old roommate of mine reported to me a few years back. He was a medical student and had been studying for his licensing exam.

“Oh, yeah?” I asked. “What was the question?”

“Whether or not achondroplasia affects intelligence.”

“And the answer was…?” I smiled.

“The answer was no,” he replied, returning the smile.

That this was a test question implies a necessity for teaching this fact. Indeed, for a good part of modern history, children with achondroplasia and other types of dwarfism were too often assumed to be intellectually disabled and placed in institutions or special ed classes for life. Hence a meme from Little People of America that’s been floating around the Internet in honor of Dwarfism Awareness Month: “A common misconception about people with dwarfism is that they are cognitively delayed or mentally impaired. This is NOT true.” Activism will remain crucial until this misconception is no longer common.

What are the chances that it ever will be? Equality and empathy are the heart of every human rights movement, but these ideas alone did not disprove the idea that lower than average height is indicative of lower than average intelligence. Science did that. The scientific method uncovers the facts. Political activism spreads the word.

Despite what some extremist conservatives claim, science doesn’t have a liberal bias. It often reveals facts upsetting to many. For example, contrary to some Dwarfism Awareness campaigns, people with achondroplasia cannot be anything they want to be. They cannot be construction workers, gymnasts, military combatants, weight lifters, or participate in most contact sports because the achondroplastic spinal column is compressed, rendering these activities more life-threatening for us than for most people. That’s a scientific fact.

It need not be a cause for regret. I don’t consider a life without the ability to participate in contact sports or construction work any less enriching than a life without the ability to sing on key or identify bird calls or cut hair or write without spellcheck. (When I’m feeling snarky, I steal a line from this movie: “Dear White People on Instagram: You own an iPhone and you go on hikes. We get it.”) Competitive and aggressive feats of strength can be a way to be a stronger person, but they are not the only way. You can tell me a million times that I cannot safely lift anything heavier than a small child over my head and I will never take it as an insult.

What is insulting is to tout broad assumptions about conditions and bodies as facts when they have not been corroborated by several studies. Someone with dyslexia is unlikely to master a word scramble, but that does not mean she cannot be a skilled writer. Someone with Down Syndrome cannot practice medicine, but that does not mean he cannot get a job. If you hear that people with dwarfism cannot have a high IQ, teach, drive, play tennis, perform surgery, give birth, or take care of children, these are not facts. They are assumptions. Yet they have been dispersed far and wide, terrifying far too many people with dwarfism and their parents.

Having a rare genetic mutation has taught me that teaching science to the masses is hard. Most of us who are not scientists develop our understanding of medicine based on doctor’s visits, pop science news articles, and hearsay, as opposed to peer-reviewed research published in medical journals or textbooks. This is to be expected—when was the last time I read a medical journal straight through?—but it results in all sorts of inaccurate and potentially dangerous assumptions.

When I recently tried to explain to some new friends that the gene for achondroplasia is dominant, one insisted, “Achondroplasia can’t be dominant because then most people would be dwarfs!” Wrong.

When my parents visited one of their first Little People of America meetings shortly after I was born back in the early Eighties, one volunteer said, “Dwarfs don’t live as long as average-sized people do because they have to walk twice as many steps in their lifetime.” Also wrong. The most common cause of lower life expectancy among dwarfs throughout history has been a lack of access to appropriate health care due to social marginalization.

When a journalist asked the owner of a Hollywood freak show last year why one of his main performers had died at the age of 32, he replied, “A lot of them don’t have long life spans. Little hearts and the whole thing.” The reporter revealed in his excellent exposé of the depressing freak show business that the performer in question died of alcoholism.

My career as a writer has helped me see how much we love stories that are both out of the ordinary and easy to understand. My dwarfism has caused me to be confronted with the ubiquity of scientific misinformation in these stories and has helped me see how xenophobia facilitates the lazy thinking perpetuating scientific myths about minorities. Black Americans can’t swim? More like they were barred from learning how. Half of gay male teens have AIDS? File that one next to the Victorian belief that masturbation causes blindness. Women don’t have the skills to be Silicon Valley programmers? In Western cultures where men are expected to be bread-winners, women have been dissuaded from pursuing the highest-earning jobs, whether we’re talking about doctors and nurses, professors and school teachers, or milk men and milk maids.

This is why I approach most scientific and medical “facts” uttered to me with a heavy dose of skepticism. This can be draining. Some days I would like to simply trust Google or a Facebook Group for dwarfs instead of having to track down out-of-print medical textbooks or wait months for my orthopedist to have a free appointment in order to find it out if I should be concerned about osteoporosis or fibroids. But doubt is the fuel of innovation and vigorous research ultimately harms no one.

And when facing complex disabilities and learning about what certain bodies absolutely can and cannot do, we should not confuse being talented with being good. Just as it is hard for us to resist a fascinating story, it is hard for us to resist the idea that strength of body and mind also indicates strength of character. But acing any sort of competition says little about your ability to be brave, honest, generous or humble. Need proof? Celebrity scandals are but a Google search away.
 
 

Advertisements

Frozen Sperm & the Slippery Idea of Increased Risk

21 Aug

Hanging bodies(Image by Gillie Rhodes used under CC 2.0 via)
 
As long as people do not want to have children, or certain types of children, they will search for a way to avoid it. In a recent CNN report on reasons why a small but growing number young men have been freezing their sperm, achondroplasia was listed as one of the conditions the risk for which is associated with advanced paternal age. While the report cites single studies finding an increased risk for various conditions and disorders, many studies over the past two decades have linked achondroplasia to advanced paternal age. (Perhaps Mick Jagger should educate himself, if he hasn’t already.)

Most people with achondroplastic dwarfism are born to non-achondroplastic parents like mine. (“Are you parents little, too?” is one of the most common questions I get from strangers.) Most of us grew up told that our genetic mutation could not be traced to any known source. That is now changing, as news networks repeat the link to advanced paternal age.

My father was 28-years-old when I was born, hardly what we in the West think of when we envision advanced paternal age. All but one of my friends with achondroplasia have parents that were roughly the same age as my own when they were born: that is, late 20s or early 30s. And the majority of my friends with achondroplasia are first-borns.

Anecdotal evidence is often rife with bias, so I cannot officially dispute the researchers’ findings. Perhaps my friends and I are simply exceptions to the rule just like every smoker can name someone who beat the odds and puffed their way to age 95. But my personal experience easily invalidates any argument that men who freeze their sperm in their 20s or 30s are on a clear path to avoiding fathering a child with achondroplasia.

Bioethicists are divided on whether or not to advise men to freeze their sperm to avoid various conditions. Regardless of the answer, men should hear that the statistics on achondroplasia and age risk imbuing them with an inflated sense of control. One could say most forms of genetic counseling do.    

 

 

Can We Understand Race In Terms of Medicine?

14 Feb

Take off your fucking mask(Image by Taylor Dave used under CC license 2.0 via)
 
Leaving you this Valentine’s Day with the urging to go read an excellent discussion at NPR titled “Is It Time to Stop Using Race in Medical Research?

Then go read Alva Noë’s essay, “Can You Tell Your Ethnic Identity from Your DNA?” He writes:

…even if, in the ideal case, we find meaningful clusters of similarity in the space of genetic variation, there is no reason to think that these will map onto ethnicity or other categories in terms of which we understand our own identity. Identity, after all, varies non-continuously. French and German villages may be separated by the smallest of geographic distances. Genetic variation, on the contrary, so far as we now know, varies continuously. DNA is just not going to carve up groups at their culturally significant “ethnic” joints.

This interests me personally because any sort of categorizing of humans ends up being far more complicated than our everyday discourse would have us believe. Race, gender, and disability are so often thought to be concretely definable through bodily indicators, yet our categories for these identities—black/white/Asian, male/female, healthy/disabled—often fail fantastically to represent a good portion of humanity. As I’ve shown before, dwarfism itself is a social construct. All identities are to some extent.

 

 

White Woman Sues Spermbank for Accidentally Giving Her Black Donor’s Sperm

5 Oct

Unity in Diversity(Image by Fady Habib used under CC 2.0 via)

 

Man, we can’t go two months without some couple making headlines over a baby they didn’t plan for. An Ohio woman named Jennifer Cramblett is suing a spermbank for impregnating her with the contents of a vial different from the one she selected. The mix-up resulted when a clerk misread Vial 330 as “380.” Her lawsuit reads:

On August 21, 2012, Jennifer gave birth to Payton, a beautiful, obviously mixed race, baby girl. Jennifer bonded with Payton easily, and she and [her partner] Amanda love her very much. Even so, Jennifer lives each day with fears, anxieties and uncertainty about her future and Payton’s future. Jennifer admits that she was raised around stereotypical attitudes about people other than those in her all-white environment. Family members, one uncle in particular, speaks openly and derisively about persons of color. She did not know African Americans until her college days at the University of Akron.

Because of this background and upbringing, Jennifer acknowledges her limited cultural competency relative to African Americans, and steep learning curve, particularly in small, homogeneous, Uniontown, which she regards as too racially intolerant.

As just one example, getting a young daughter’s hair cut is not particularly stressful for most mothers, but to Jennifer it is not a routine matter, because Payton has hair typical of an African American girl. To get a decent cut, Jennifer must travel to a black neighborhood, far from where she lives, where she is obviously different in appearance, and not overtly welcome.

One of Jennifer’s biggest fears is the life experiences Payton will undergo, not only in her all-white community, but in her all-white, and often unconsciously insensitive, family. Despite her family’s attempts to accept her homosexuality, they have not been capable of truly embracing Jennifer for who she is. They do not converse with her about her gender preference, and encourage her not to “look different,” signaling their disapproval of her lesbianism.

Though compelled to repress her individuality amongst family members, Payton’s differences are irrepressible, and Jennifer does not want Payton to feel stigmatized or unrecognized due simply to the circumstances of her birth. Jennifer’s stress and anxiety intensify when she envisions Payton entering an all-white school. Ironically, Jennifer and Amanda moved to Uniontown from racially diverse Akron, because the schools were better and to be closer to family. Jennifer is well aware of the child psychology research and literature correlating intolerance and racism with reduced academic and psychological well-being of biracial children.

Family planning is so endlessly complicated that any law-abiding individual seeking privacy deserves it. But Cramblett is going public with her pursuit of compensation for emotional distress and therein invites judgment. John Culhane writes at Slate that this sort of blunder is bound to happen in the free market of assisted reproductive technology. Julie Bindel at The Guardian warns of a creeping let’s-get-a-designer-baby approach to parenting among those using IVF. “Just remember,” she writes. “If the child you end up with does not exactly fit your ideal requirements, you can’t give it back – and nor should you even suggest that something bad has happened to you.”

Do parents have the right to be guaranteed certain kinds of children? Those pursuing parenthood via sperm donors, egg donors, or adoption have much more freedom to decide against certain kinds of children than those using nothing but their own biology. The application for becoming an egg donor in New York contains over one hundred invasive questions about family and medical history, as well as education, favorite sports, artistic talents and “additional characteristics” such as “cleft chin, full lips, big eyes, or high cheekbones.” Applicants are required to submit three photos “that shows [sic] your face and/or body type clearly.”

I understand why such questions are asked. Many if not most parents already know such things about those involved in producing their child, so why shouldn’t the IVF parents be allowed to know? If my partner and I were to join their ranks, what sort of donor profile would seem most appealing to us? Deciding upon something inherently entails deciding against something else. Nevertheless, it is hard not to see this tick-the-box approach to baby-making as eugenic. How many parents would accept my eggs, with their 50% chance of passing on achondroplasia? How many would sue if someone accidentally got them without asking for them?

Parents seeking to adopt children here in Germany are asked what kind of children they would and would not like to have before they look at profiles. For example, do you mind if your children look extremely different from you? What about physical disabilities? Mental disabilities? Drug addiction? In an interview with a family whose two children were adopted, I was told that the agencies encourage prospective parents to be utterly frank about their fears and prejudices – that an insistence along the lines of, “We can handle anything!” will sound suspiciously naïve.

Such brutal honesty strikes me as reassuringly well-informed, perhaps the result of infamously ideological parents like Josephine Baker or Jim Jones, who flaunted their rainbow families at the expense of the children’s individuality. Reading Cramblett’s descriptions of her relatives’ hurtful reactions to her sexuality, I can sympathize with the feeling that battling one kind of bigotry can be hard enough. Everyone deserves to live free from the unnecessary pain of bigotry. But if we’re going to be suing someone, wouldn’t it be more logical to file complaints against those who make her daughter feel stigmatized and unrecognized? Surely they’re the ones causing “emotional distress.”

While the spermbank does appear to have erred out of negligence and may be at fault, would awarding Cramblett for “emotional distress” not set a precedent and open the door for endless lawsuits over the births of minority children parents did not explicitly wish for? My parents had a 1 in 40,000 chance of producing a child with achondroplasia, as does anyone reading this. (That is, unless you already have achondroplasia.) Should doctors warn every prospective parent of those odds? Should they warn us of the chance for racial atavism? If homosexuality proves to be genetically determined, will parents have a right to sue doctors who fail to remind them of the risk? The very idea of being financially “compensated” for emotional distress is often silly to those of us who know from firsthand experience how vastly unreliable life can be.

Legal decisions aside, my primary hope is that Cramblett and her partner will explain the lawsuit to her daughter in a way that does not cause her to feel any more conflicted about her extraordinary appearance than her relatives’ racist views already do.

 

 

When You Gonna Start Makin’ Babies?

22 Jul

Gotcha by Clint McMahon(Image by Clint McMahon used under CC license via)

 

A while back, tucked inside one of my longer posts was a link to a conversation Rosie O’Donnell had in February with comedienne Chelsea Handler on her show in which she discussed her phobia of dwarfs.  Driven by Handler’s insistence that sex with a dwarf would be “child abuse,” the conversation devolved into musing about how dwarf women give birth:

O’Donnell: When a little person has a normal-sized person, I don’t understand how that happens.

Handler: That I don’t understand!

O’Donnell: I don’t get it.  How come the little person isn’t dead when the normal-sized baby comes out?

Handler: Sometimes two smalls make a tall.

O’Donnell: But how does it come out?

Handler: I don’t know.  I think anything can come out of that.

For your information, Chelsea, when it comes to achondroplasia—the most common type of dwarfism—“two smalls” have the exact same chance of having a “tall” (25%) as they do of having a child with two achondroplastic, homozygous genes, which is always fatal.  (The baby is usually stillborn or dies within the first few weeks after birth.)

O’Donnell has since apologized for talking about her phobia of dwarfs, though Little People of America have rightly said she missed the point.  Many have said that as an openly gay woman, she should know better when discussing prejudice, but I was more surprised by her callousness in light of her being an adoptive parent.  And I notice my (hyper-)sensitivity to that issue seems to grow every time I encounter it.

And of course I seem to be encountering it everywhere nowadays.  “When ya gonna start makin’ babies?”  Almost all of us in our late twenties and thirties are used to being asked this regularly.  I’ve been told I should take it as a compliment, since it’s rarely asked of couples who would make terrible parents.  Yet I’ve been amazed at how intrusive the questions and comments can be, how often something as personal as parenthood is treated like small talk.  It’s understandable as more of my peers become parents; the prospect of making humans is daunting and people need to vent about it.  Those who don’t want children while living in a baby-obsessed world feel the need to vent back.  All this venting results both in community-building and in tactless comments that knock those outside of the community. 

One of my friends who miscarried was told by a stranger, “Well, it wasn’t a real baby.”  A friend who adopted a girl from South Korea was told by a fellow church member, “Her eyes aren’t that bad.”  A friend who had a C-section was told she must not feel as close to her child as women who give birth “naturally.”  Childfree friends have been told that their lives will be never be “complete” until they’ve had children.  A biology professor who had two foster daughters was asked if he was worried they would inherit their imprisoned father’s criminal tendencies because “that stuff’s in the genes, y’know.”  I’ve been told it’s selfish to want a child with achondroplasia, it’s selfish to want a child without achondroplasia, it’s selfish to allow my child to inherit my achondroplasia, it’s selfish to play God with genetics, it’s selfish to want to biologically reproduce what with the world population exploding, and it’s selfish to worry about any of this because it’s not like I’m infertile.  All of these comments were well-intentioned. 

Usually people are simply thinking out loud when they say such things.  It is important to remember that no one can be expected to know exactly what to say in unusual circumstances, lest I end up lecturing as if I’ve never inadvertently offended anyone.  Almost all of us have good intentions, but many are unaware of how quickly we redirect conversations back to our own experiences, how easily we forget to prioritize listening over interrogating, empathy over curiosity, respect over Thank-God-that’s-not-me! complacency.   

Hereditary conditions, finances, disabilities, infertility, relationships and emotions ensure that having children is not a universal experience.  There is no right way for everyone and any opinion that can in any way be construed as a judgment can cut someone deep because babies and bodies are entangled in supremely visceral feelings.  It’s no coincidence that Roe v. Wade was argued based on the right to privacy: Something as sensitive, as complicated and as profoundly emotional as your reproductive choices should be volunteered at your discretion. 

That said, parenthood is all about making decisions that will inexorably affect someone else’s life, not just your own, and this is why it is such a hot-button issue.  Our reproductive decisions, more than any other decisions, are the intersection of personal freedoms and social responsibility.  As the daughter of a social worker who worked for Child Protective Services, I have firm beliefs about right and wrong when it comes to parenting.  As someone whose genes make the prospect of parenthood unusually complicated, I’ve begun to see how judgmental those beliefs can come off when the presentation is sloppy. 

As an avid reader of Offbeat Families, I know that sharing knowledge and experiences can help others in so many ways.  But as someone who feels very ambivalent about offering up my not-yet-existent children’s potential situation as conversation fodder, I’ve become less trustful of many of my most well-meaning friends and family members.  Questions about my situation so quickly transform into lectures about their situation.  (I’ve also noticed that the more nervous someone is, the more they lecture.)  Besides making me more guarded about my personal experience, it has also taught me to stop myself from making snap judgments about others’ reproductive choices.  When dealing with anyone else’s family planning, I have been humbly learning to: 

 1)      Fight the urge and try not to ask others about their reproductive choices, especially in the context of small talk.  Let them volunteer it.  Go ahead and volunteer your own stories, but don’t press the other person if they do not respond in kind.  We can never assume what’s lurking under there. 

 2)      Beware of talking about the decisions you made in a way that inadvertently hurts those who must make different decisions.  This is also very tricky, but if you are convinced water birth is the only way you can imagine doing it or you are proudly childfree or you know exactly how to make sure it’s a girl, be aware that people in different financial or medical situations may not have these options at all.    

 3)      When someone does want to share something you have little experience with (e.g. adoption, stillbirth, staying childfree, etc.), prioritize listening and learning over immediately finding something to compare it to.  Relativizing struggles can be helpful and I’ve gotten some great feedback from friends, but my guard goes up when someone without achondroplasia tells me right away they know what I should do because they know someone whose baby has diabetes, they took a college class on bio-ethics, or they heard something like it on the news.

4)      Only offer your ethical opinion if the person makes it perfectly clear they want to hear it.  Every society bears the responsibility of taking a legal stance on complex reproductive issues: prenatal testing, genetic counseling, birth control, abortion, sterilization, drug testing, assisted reproductive technology, the life of the mother vs. the life of the fetus, custody, adoption, foster care, etc.  We are all compelled as citizens to be aware of the laws concerning these issues.  And we all have our own opinions about them.  But anyone directly affected by them is likely to have heard it before and to have been thinking about it longer than we have.  I’ve been thinking about the effects my dwarfism may have on my kids since I was fourteen.

5)      Don’t gossip about others’ decisions behind their backs.  It makes your listeners aware how they will be talked about when it’s their turn to decide about having children.  There is a fine but crucial line between trying to understand situations that are new to you and using someone’s situation to tell an interesting story.

6)      Do try to actively listen when invited to, saying truly supportive things, as one or two particularly fantastic friends of mine have, such as: “I can only begin to imagine what I’d do in that situation.”  “Let me know if you don’t want to answer this question…”  “On a much smaller level, it sounds a tiny bit like what I felt when…”   “No matter what you decide, I know you’ll be great at it because…”  “I’m always here to listen if you ever need to spill, as long as it helps.”

Of course, in listing here what I have learned not to do, I can only hope that my own past SNAFUs have been minimal.  Insensitivity, by definition, is the disconnect between intention and effect.  Embarrassed apologies to anyone whose toes I stepped on while stomping through my own bigfooted opinions.

 

 

Cross-posted on August 27, 2012 at Offbeatfamilies.com