Monday, March 2, 2015

Genetics is Power


I am very excited to be speaking at the Ethical Issues in Genetics Conference this week at Children’s Hospital Colorado.

Nothing can be more important to a person’s health and identity than an accurate understanding of his/her genetic information. Facts are important and knowledge is power: the power to make decisions.

My interest in genetics is personal. My son has a fatal genetic disorder called Duchenne Muscular Dystrophy. As you all probably know already, Duchenne is caused by a fault on the X chromosome, in the dystrophin gene. A mutation in this area causes the body to be unable to create dystrophin protein, which I often characterize as being like the glue that holds the muscles together. Without dystrophin, muscle tissue gradually degenerates to be replaced by fibrotic material, fatty deposits, and scar tissue. The result is a pervasive, cumulative loss of muscle function which leads in 100% of cases to death at an early age. That’s heavy and the sisters and cousins and aunties of the boys and men with Duchenne are keenly aware of it.

Currently, genetic testing is being withheld from the sisters of boys with Duchenne until they are in their late teens. Parents who seek testing for their daughters are denied on the basis of some false assumptions, both medical and ethical. The result is that many women do not get tested at all. Their medical care is being unnecessarily compromised; their choices unethically influenced by omission.

Let’s talk about medicine first, then ethics. It was long thought that women and girls with X-linked genetic conditions are “unaffected carriers” whose only interest in becoming aware of their carrier status is in relation to childbearing. In Duchenne, we do not have a lot of research about carriers either way, and rightly so. Duchenne kills boys and men. Until we have found a cure for our brothers and uncles and sons, the women of Duchenne are willing to defer our own interests. Research dollars are scarce and precious and we want them to go toward medicine first and foremost. Yet, thanks to the growth of advocacy groups and the internet--the increasingly connected nature of the Duchenne community--we now have a growing body of anecdotal evidence about female carriers of Duchenne Muscular Dystrophy. Some girls have the full-blown condition and experience the same type of morbidity and mortality as their male counterparts. Some women are “manifesting carriers” who exhibit a spectrum of debilitating symptoms over the course of their lives. Why and how this happens is unknown. We see evidence that some carriers are more susceptible to cardiomyopathy symptoms. And some are not. No one knows exactly what is happening there. Now that we are aware of a “cognitive package” in boys and men with Duchenne, we are starting to see stories of women and girls who show similar symptoms: speech delays, reading delays, ADHD symptoms, autism spectrum co-morbidity. Each of these factors is important to the health of a woman or girl carrier of Duchenne completely independent of her childbearing choices. In other words, a girl needs to know about her carrier status so that she can appropriately seek medical care for her own symptoms of body, heart, and mind.

In short, girls are not “unaffected” carriers. We simply do not know what all of the effects of being a carrier of Duchenne are.

Body, heart, and mind have meaning in ethics as well. If we imagine that the only reason a woman needs to know her genetic status is so that she can make decisions about childbearing, we are thinking about real live women and girls—our mothers and sisters—only in relation to the needs of their husbands and sons. It is long since time that such an offensive and false belief was jettisoned. Our society has abandoned the idea that women ought to be owned and controlled by men. It is high time that medicine behaves in ways that are consistent with the belief that women are independent human beings who matter. Women and girls have a genetic interest in their own bodies because they are intrinsically valuable people who are entitled to know the facts about themselves because that information inherently belongs to them. The facts about their own bodies are exclusively owned by that particular woman or girl whose body, heart, and mind we are talking about.

Besides which, the way we are conceptualizing the making of decisions about childbearing is false. A woman does not just wake up one morning when she is 25 years old and think to herself, independently of circumstances in her life, “Time to have a baby. I’d better go get my DNA sequenced to see if I am an unaffected carrier of any life-threatening genetic conditions.”  Girls grow up in our society expecting and expected to have children when they grow up, and they know it. Among my friends growing up, it was a frequent topic of conversation from at least as young as 8 years old: How many children are you going to have? What will their names be? I contend that there isn’t a 12 year old girl in America who hasn’t had that conversation in the school yard, even if her answer is zero. She is far more likely to have names for all ten of her future children than to have decided whether she prefers to pursue a career in astrophysics to one as a farmer, actress, teacher, doctor, pilot. And then those girls carry the weight of their childbearing decisions into the rest of their lives. High school girls are both consciously and unconsciously making education and career decisions based on their already-decided childbearing choice: yes or no. If yes, then this thought follows, “I really like my chemistry class, which is fun and fascinating, but it takes twice as much effort than accounting, which is also a fun way to use my math talent. If I go for a career as an accountant, I will have plenty of time and energy to have my kids. If I put all of my effort into science, I’ll still be in grad school until I’m 30, which will limit my ability to have those ten kids I’ve been wanting since second grade. So I don’t mind getting the B in Chem and going for the easier goal. I’ll play math games with my kids in my free time after work.” By the time a young woman is looking for a mate, she has already locked into her career prospects based on her education decisions, based on her childbearing decision made at age 8. She has narrowed her childbearing plans, of course, and they are now no longer about number, but more about an algorithm like this: if no, then no; if yes, then sooner or later. If mate, then sooner. If career, then later. Many talented formerly-potential chemists and doctors have become accountants at age 25 based on their childbearing decisions. Then they seek out genetic information: information with which they would have made different decisions in life, different careers, different mates, different selves with different goals and dreams. They can feel that they have wasted their lives as a result of poor medical care because they did not have the information about their bodies that they needed.

Some women would make the same decisions regardless of their carrier status.

I am equally interested in the woman whose parents told her that she was probably a carrier despite having no information available. Has she avoided personal relationships? Has she made decisions she is proud of, decisions she does not harbor any regrets about? And what if, when she is 42 and recently divorced, perhaps, she gets her genes sequenced for a lark and finds out that she never was a carrier? She could feel a lifetime of regret that will not be assuaged by making new decisions now.

In short, decision-making is complex and people make decisions whether they have the facts they need to make good ones or not. Withholding facts, in this case by denying parents the ability to test their daughters for carrier status in Duchenne, does not make for better decision-making. It does exactly the reverse.

Parents have the responsibility to care for and educate their children. For twenty years and more, we do everything we can to protect and encourage the growth of our children’s bodies, hearts, and minds. We feed them the best food we can afford, buy or make them clothes to protect them from the weather. We attend to their relationships with their peers, siblings, and elders. We encourage them to form emotional and spiritual habits and beliefs to sustain them over the course of their lives. We work hard to promote their education, to provide them with opportunities to succeed in their aspirations and contribute positively to society. We encourage them to seek out facts about the universe and to interpret those facts based on rational, ethical, evaluative and spiritual concerns.

Let us not be afraid of facts. Let us face them as we would encourage our children to face them. Let us use the full force of our value systems to make decisions based on those facts. Let us do so as individual, autonomous human beings whose life decisions matter. Good medical care is like good decision-making: it investigates the facts, names and diagnoses those facts, explores treatment options, and then makes recommendations. Good medical care informs the patient first, then asks him/her to make choices about consent to treatment. In the case of a child, that child’s parents must assume the right to make medical decisions for their child. Good medical care does not seek to control the patient’s ability to make decisions. Failing to inform a patient of the facts of his/her condition is wrong; medical paternalism is illegal, unethical coercion.

Some parents will choose not to test their children because they believe that ignorance is bliss. Or because they prefer to submit their wills to the faith they have in their gods. Some parents will choose not to test their children because they believe that they do not have a right to know their children’s bodies’ innermost truths. This is fine and respectable. They need not test.

But some parents believe that their daughters deserve to know the facts about their bodies early enough that those facts can influence their lives. We should not be held hostage to the beliefs of others. Our girls should be tested when and if we decide they would benefit from the knowledge. For many of us, that benefit cannot arrive too soon, though it can very easily arrive too late.

Monday, February 23, 2015

Quotations for Health and Sanity: Pliny the Younger, on Writing


Quotations for Health and Sanity

Pliny the Younger, on Writing


"Happy are they, in my opinion, to whom it is given either to do something worth writing about, or to write something worth reading; most happy, of course, those who do both."

Thursday, February 19, 2015

Letter to the House


Ivy Scherbarth
Regional Coordinator for Parent Project Muscular Dystrophy, FACES Program
Author and Publisher, LivingDuchenne.com

Members of the Colorado House of Representatives
Colorado State Capitol
200 East Colfax
Denver, Colorado 80203

February 19, 2015

Dear Members,

This letter is my personal testimony in favor of HB15-1147 to require licensure for Genetic Counselors, co-sponsored by Representatives Ginal and Todd.

I am a patient advocate for people with Duchenne Muscular Dystrophy, a rare and fatal genetic disorder. Duchenne may affect any family; it does not discriminate based on whether a person is urban or rural, rich or poor, their ethnicity, religion, or education. Duchenne is inheritable but up to one third of new Duchenne diagnoses have no family history of the disorder. Duchenne is caused by a flaw in a specific section of the X-chromosome which controls the integrity of muscle tissue. A Duchenne diagnosis means that the failure of the dystrophin gene causes the inevitable, irreversible breakdown of all muscle tissues in the body, causing profound disability, loss of function, and death at an early age.

Because of its genetic characteristics, Duchenne primarily affects boys and men, while being passed down hereditarily by those males’s mothers, sisters, and female relatives. Women carriers may experience symptoms of Duchenne at different times in their lives and some girls are diagnosed with Duchenne itself on rare occasions. The genetic factors are complicated and, in many cases, as yet unexplored due to the fairly recent discovery of the gene associated with the disorder. New information about the genetics of Duchenne is emerging at an increasing pace. Although researchers are working hard, to date there is no cure or treatment for Duchenne. For those of us who are affected by this brutal disorder, we must learn to live with the reality of Duchenne as a life-long condition which affects every aspect of our lives as individuals and families.

It cannot be overstated how devastating a diagnosis of Duchenne is to a family. They are in a terribly vulnerable position. Duchenne is typically diagnosed between ages 2-6 years, after a long and difficult process of worry and confusion. Parents often have to struggle with medical care providers for years before the symptoms of Duchenne manifest themselves so clearly that they can no longer go undiagnosed. Families are told: “Your child is disabled and he will get worse. If he lives to age 20, he will become fully paralyzed and totally unable to care for himself at all. There is no treatment. There is no cure. Very few doctors have the expertise to care for a child with Duchenne, so your family will have to travel great distances and incur huge expenses in order to get appropriate care.”

Often, a child who is diagnosed has at least one younger sibling who is also at high risk for the disorder. It is quite common for a family to receive the news of their son’s diagnosis while the mother is already pregnant with another sibling who very well may share his brother’s condition. A mother’s sisters are in danger of passing the genetic mutation on to their children and cousins often share the disorder passed along by their mothers and grandmothers.

What is most desperately needed by a family in this situation is someone whom they can trust, someone who understands what is happening to them and who can explain it in terms that make sense. A family facing Duchenne needs a good Genetic Counselor. Licensing and accreditation ensure that a family will get the kind of accurate, timely information and advice that they so urgently need.

When my son was diagnosed with Duchenne, we had the benefit of excellent genetic counseling services through Children’s Hospital Colorado, in Aurora. Not everyone is so lucky. People who live in remote locations often have no access to such trustworthy treatment. In fact, Children’s Hospital treats patients from a huge catchment area, including most of Wyoming, Nebraska, Kansas, and New Mexico, as well as a significant number of people who make the trek all the way from Montana and western South Dakota. A law passed in Colorado affects the quality of healthcare throughout the Intermountain West and Great Plains regions. Lawmakers in Denver have the unique opportunity to lead and to serve an amazing variety and number of distinct communities, upon whose behalf they have a duty to act.

Professional Genetic Counselors play a vital and necessary role in the identification and management of a growing array of genetic health concerns. New information is emerging from the field of genetics at such a pace that it would be easy for a person to lose track of life-saving innovations. Licensed Genetic Counselors would have the training and ongoing education requirements to mitigate this problem. In our current era of smartphones and telemedicine, patients are increasingly able to acquire raw genetic information. However, information alone cannot save lives. It is only in the accurate, complete, and professional interpretation of genetic data that improvements can be made in mortality and morbidity. Qualified, licensed, accredited Genetic Counselors can achieve these goals in a way that others simply cannot.

Sincerely,

Saturday, February 14, 2015

Happy Valentine's Day

Happy Valentine's Day

We hope you get to snuggle up with someone you love.


Friday, February 13, 2015

Monday, February 9, 2015

Business Travel

Rain continues to faithfully travel across the country to participate in a clinical study. Scott accompanies him through airports, planes, hotels, and hospitals.



It isn't easy to watch them go, leaving before the sun rises.



But I do look forward to a weekend of doing girl stuff with Hazel while our boys are away.



Wednesday, January 28, 2015

The Second Degree

As you all may remember, I am now in the second half of my first year as a master's degree candidate at  my local university. I am studying writing in a program for creative nonfiction. As a full time student. While doing the rest of what I do, which hasn't taken a hiatus.

I am taking three classes. I am working as an intern at the university press's literary magazine. I also have a teaching position, helping students one on one, to improve their writing.

This week I spent approximately 18 hours working homework for a single class. The first week of classes.

Bear with me. And please wish me luck.