Memories Of Genetic Testing: From My Mom To Angelina Jolie

My family’s experiences alongside genetic testing for Huntington’ affliction rarely stray from my daily thoughts.

The hateful solar daytime later Christmas inward 1995, I learned that my woman raise had tested positive for HD, a status I had never heard of. The devastating intelligence that she was afflicted alongside an untreatable, fatal disorder laid me on a call for to larn all I could virtually it as well as assist discovery a cure.

In June 1999, I tested for hard disk drive primarily because my married adult woman as well as I wanted to start a family. Sadly, I was gene-positive. That data changed my life forever, altering my career path as well as thrusting me into a race against my ain genetic clock – as well as for the cure.

In Jan 2000, our immature lady tested negative inward the womb – i of the happiest moments of our lives. Now, equally she enters the teen years as well as becomes independent, I realize how our determination to seek out her thirteen years agone has liberated her as well as us from ever having to worry virtually hard disk drive affecting her or her ain potential children.

Lately, I’ve been reliving the powerful emotions of those 3 experiences as well as reflecting on how genetic testing has both provided of import life-planning tools for hard disk drive families as well as forced them to create the kinds of hard decisions I own got made.

When I read inward an hard disk drive Facebook grouping virtually someone who has tested negative, I at get-go travel extremely jealous as well as fifty-fifty a flake angry. Then I experience relief for that private as well as his or her solid unit of measurement as well as ship on a authorities annotation of congratulations.

When I catch intelligence of a positive test, I experience the postulate to offering comfort as well as encouragement – as well as to redouble my advocacy efforts.

Don’t rush, sit down alongside your emotions

An instructive lesson on the hope as well as perils of genetic testing came inward the presentation past times genetic counselor Lauren Dennis on “HD as well as Genetic Counseling” at the Feb 25 San Diego-area back upwards grouping meeting.

“Basically we’re giving you lot a yes or no to a province of affairs where there’s no cure,” Lauren said equally the started her overview of the counseling as well as protocols involved inward the testing process. “We’re actually looking into that crystal ball to give you lot that information. Once you lot own got that information, there’s no going back. We want to create certain that you’re inward a goodness house to acquire that data as well as hold upwards able to contend alongside it.”

This approach stems inward large business office from the risk of suicide associated alongside hard disk drive testing, Lauren explained.

Among many telephone commutation points, she emphasized that individuals should non rush into testing.

“We don’t want this to hold upwards an impulsive decision,” she said. “Sometimes people pick upwards that telephone as well as telephone telephone us: ‘Gosh, I simply learned that Huntington’s affliction was inward my solid unit of measurement final week.’”

Such people sometimes want to seek out immediately, she said.

That scenario starkly reminded me of my ain wishing to undergo testing correct later learning of my mother’s seek out as well as diagnosis for HD.

However, equally I learned then, as well as equally Lauren explained during her presentation, counselors oftentimes inquire people similar me to get-go larn to a greater extent than virtually the affliction as well as the postulate to programme regarding potential issues similar insurance coverage, career, as well as solid unit of measurement planning

“You actually postulate to sit down alongside the emotions as well as the thought of what that lawsuit would hateful for you lot as well as how it volition impact your life,” she continued, referring to the required one-month hold off betwixt submitting the deoxyribonucleic acid sample from a cheek swab as well as obtaining the results. “You postulate fourth dimension to arrive at that.”

Limitations

As I listened to Lauren’s presentation as well as the subsequent Q&A session, I recalled the many other facets of my family’s experiences alongside testing.

Lauren explained that each private or solid unit of measurement seeking counseling is unique, thence advice is offered on a “case-by-case basis.”

Ultimately, genetic testing is alone the start of a family’s journeying alongside HD, she concluded.

“That’s a huge limitation of genetic testing,” she said. “We tin sack give you lot the yes or the no. We can’t say you lot the when. We can’t say you lot what age. We tin sack form of guess from the solid unit of measurement history – it powerfulness hold upwards similar…. We can’t say you lot where, precisely what symptoms you’re going to have, or how severe they volition hold upwards or how long your progression volition be. That is a limitation. We don’t own got that magic crystal ball.”

Lauren’s presentation is an splendid introduction to testing for whatever hard disk drive solid unit of measurement interested inward learning to a greater extent than virtually the process. You tin sack lookout it inward its entirety inward the video below.

New meaning

In definitively exiting the terrible as well as lonely “HD closet” over the past times half dozen months, the history of my family’s 3 hard disk drive tests has taken on novel meaning.

As an hard disk drive advocate as well as historian, I’ve ever had trouble organization virtually the impact of genetic testing on guild inward general.

Now, later my employer, the University of San Diego, published an official website article on March 1 virtually my journeying alongside HD, I’ve begun to implement my long-desired programme to to a greater extent than formally explore the history of science, technology, as well as medicine as well as link alongside academy programs relevant to that expanse as well as hard disk drive research.

Recently I met alongside faculty members inward accuse of the university’s create novel neuroscience major. This is a hot field. Projected to own got inward twenty students its first year, the programme has already attracted some 100 students interested inward the major.

In a twosome years, later some careful planning as well as lots of research, I hope to learn a class on the history of the brain, which would hold upwards highly useful for neuroscience students. Also, equally chair of my department, I am helping to atomic number 82 the search for a novel faculty fellow member inward the history of science, technology, as well as medicine who could potentially create additional bridges to neuroscience as well as many other campus programs situated inward i of the world’s leading biotech hubs.

Medical ethics

Last month, the academy posted an article about a novel student-designed website, Genetics Generation, that aims to furnish impartial data virtually genetics as well as engage the full general populace inward conversations virtually genetics as well as ethics.

One of the site’s ethics representative studies, titled “Huntington’s Disease as well as Personal Autonomy,” is similar a page ripped out of my family’s story: a young, gene-positive human being as well as his married adult woman want to seek out their unborn kid for the hard disk drive mutation.

However, dissimilar our story, this hypothetical twosome encounters hesitation from their doctor, who counsels against obtaining data for a status that may non acquit upon the kid until adulthood.

The representative study ends alongside a reader’s poll: “if you lot were the doctor, what would you lot decide?”

Click here to read the entire representative study as well as to register your vote.

I contacted the biological scientific discipline professor, Dr. Laura Rivard. The students produced the website equally business office of her course, Ethical Issues inward Genetics. Our electronic mail conversation led to an invitation for me to participate inward a planning coming together for a new, multidisciplinary academic concentration inward medical ethics.

As the healthcare as well as biotech industries travel along to grow, the concentration would furnish students alongside urgently needed perspective as well as reflection on matters such equally the transformation of the healthcare organization as well as issues inward genetics.

I volition bring together hereafter planning sessions as well as offering my expertise on hard disk drive wherever it powerfulness hold upwards useful to students as well as beau faculty.

Building these larger connections via my operate equally a professor volition assist me extend my hard disk drive advocacy to novel spheres as well as highlight HD’s pioneering utilisation inward genetic testing as well as genetics research.

Walking inward another’s genetic shoes

This past times calendar week the oftentimes terrible impact of genetic testing hitting domicile i time once to a greater extent than equally I heard the intelligence that world-famous actress Angelina Jolie had revealed inward The New York Times that she had undergone a preventive double mastectomy because she had tested positive for BRCA1, which sharply increases the risk of thorax cancer as well as ovarian cancer.

I imagined how hard it must own got been to own got received the intelligence of her test, but I also felt relieved to know that medicine has works life a agency to cut the risks for Jolie as well as myriads of others threatened alongside the possibility of thorax cancer.

“My chances of developing thorax cancer own got dropped from 87 pct to nether v percent,” Jolie, whose woman raise died of the cancer at the historic menstruum of 56, wrote. “I tin sack say my children that they don’t postulate to fright that they volition lose me to thorax cancer.”

For some, the alternative of the double mastectomy powerfulness seem extreme, and, equally commentators on Jolie’s province of affairs noted, other approaches to combatting thorax cancer arrive at exist.

However, people should non justice Jolie. She made the best determination for her. Nobody tin sack fully encompass her determination until walking inward her genetic shoes.

Likewise, nobody should justice hard disk drive families faced alongside the extremely hard issues surrounding genetic testing as well as procreation.

Hoping for prevention

The infinitesimal I heard the study on Jolie, I thought of my ain seek out – as well as the fact that for the hard disk drive community no preventive physical care for or handling exists.

Sometimes, HD-affected individuals, gene-positive people similar me, as well as caregivers experience similar jumping at a radical solution. We arrive at thence because of hopelessness.

My chances of hard disk drive onrush are 100%. To cut that past times fifty-fifty one-half would hold upwards fantastic. To cut it to v pct would hold upwards a miracle.

With the residue of the hard disk drive community, I’m rooting for the electrical flow as well as upcoming clinical trials aimed at testing approaches such equally cistron therapy, which could potentially halt, reverse, as well as perhaps fifty-fifty forestall symptoms.

(May is hard disk drive Awareness Month! Learn to a greater extent than virtually the crusade as well as donate past times visiting the site of the Huntington's Disease Society of America.)

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