Your Story Archive

Contribute content to the Geneforum site. Share your thoughts and experiences with gene-based technologies, products and services. To read what others have contributed see the story archive below. To contribute, use the Your Stories webform on your right.

Arainna's Story: A family health history saved my life

For Arainna learning about her family health history was more than just a hobby, it saved her life. It began in 2002 when Arainna’s mother suffered a stroke at the age of 61. Her mother had shown symptoms of stroke including dizziness, slurred speech, confusion, and facial sagging. The stroke was caused by a heart defect and blood clotting disorder that can run in families, which together can be deadly. Shortly after her mother’s stroke, Arainna, her husband and eight-month old daughter returned from London after visiting her parents. When they arrived home Arainna began to feel dizzy. The next day she couldn’t say words with the letter “S”. Her jaw felt out of alignment. Then, at the grocery store, she couldn’t sign her name on the credit card receipt. She remembered her mother’s symptoms and freaked out because she knew she had had a stroke. Arainna was twenty-four. Arainna immediately went to a doctor at a nearby clinic who dismissed the problem as jetlag. She insisted with her recent family history of stroke that something was wrong. Many tests later, Arainna learned she had suffered a stroke and had the same heart defect and blood clotting disorder as her mother. And to make things even more complicated, Arainna learned to her surprise that she was expecting another child. Terrified and scared that she and her baby wouldn’t survive, Arainna endured surgery to repair her heart. Nine months later, Arainna gave birth to a beautiful and healthy baby girl, a true miracle baby. Arainna recalls, “My mom’s problem was a gift because they would have never looked for that in me. The only thing you have control over in your family health history is to empower yourself enough to be aware of what you’re potentially at risk of so you can recognize the symptoms or prevent the disease from occurring.”

Bernice's Story: I'm deathly afraid

Both of my parents had strokes. All of my siblings have had transient ischemic attacks (TIAs or “mini strokes”). And I have had TIAs. My brother and both of my sisters have had or now have osteoporosis. My brother and one of my sisters are no longer alive. My sister and I are both being treated with Fosamax. We have told our children to take extra calcium so they don’t have fractured vertebrae as my brother and sister have had. I have also told them to have bone scans. How this has impacted my life: I am deathly afraid of having a fracture of my vertebrae. My youngest grandchild is five years old and I have yet to pick her up off the floor. When she was a baby, I allowed her parents to put her in my lap for a few minutes but I was afraid to change position so only was able to enjoy her for a short time. My other grandchildren know they can’t climb onto my lap. Because my first TIA affected the way I walk, my ability to walk has deteriorated slowly since 1992. I started using a cane then graduated to a walker which I still use. I use a wheelchair occasionally as well but luckily not regularly.

Eugene's Story: A Family's Mystery

One of the greatest joys in life is raising a happy, healthy family. Our family has been blessed to have good health at least for the most part. As the years have passed, we have noticed a pattern of neurological illness. It starts in the late 40’s to early 50’s with difficulty balancing and walking. The degeneration progresses until the individual is wheelchair bound by their 70’s or 80’s. Upon examination by several specialists, it has been determined that the problems stem from a deterioration of the cerebellum. The doctors are unable to classify the disease due to its late onset. Through genealogy work and speaking with individuals in the family, we have been able to confirm that this condition has been present in our family for at least five generations. It affects both males and females, and seems to appear randomly in our family tree. We have three members of the family who are currently affected by the condition and others are beginning to show the early signs. Experts have concluded, at least for the time being, that there is no cure. We continue to work toward educating, ourselves about the disease, hoping for more comprehensive knowledge of the condition and its causes. It is our hope that scientific discoveries will allow future generations to take preventative measures.

Facing Life with a Letal Gene

The test, the counselor said, had come back positive. Katharine Moser inhaled sharply. She thought she was as ready as anyone could be to face her genetic destiny. She had attended a genetic counseling session and visited a psychiatrist, as required by the clinic. She had undergone the recommended neurological exam. And yet, she realized in that moment, she had never expected to hear those words. "What do I do now?" Ms. Moser asked. "What do you want to do?" the counselor replied. "Cry," she said quietly. The rest of this poignant story is part of a recent article by Amy Harmon in the New York Times (subscription required).

Marian's Story: Heart problems in my family

Heart disease runs in both sides of my family. My grandfather died at age 43, my father died suddenly at 63, his mother died at 63 and his father died at 72 - all from heart attacks. Several of my uncles have died in their 40’s and 50’s from heart attacks. I’m the oldest of 10 children and almost all of my brothers and sisters have had heart attacks. My brother had his first heart attack at 42 and died at 48. My other brother died at 56, and the other one had a mild heart attack but made it through his forties. I have six sisters and only one of them is in good health because she exercises and watches her diet. I’m lucky. I’m 67 and haven’t had a heart attack yet. But I have high cholesterol, high blood pressure, and diabetes. I’ve been on medications for years. I am so aware of my family history and because of that I walk and try to eat right. Everything is under control because of my walking and diet, but it isn’t easy to always make healthy choices. Knowing your family history could help save your life. Some of my family members think this is how my family is and there’s nothing we can do about it. But you can! If my family had known what signs to look for, they could have changed their lifestyles. I am so aware of our family’s health issues and am constantly talking to my nine children and thirty grandchildren about the importance of exercising and eating healthy. I try to be a good example and share what I know about our family health history so future generations won’t have to worry about repeating the same fate.

Marketing Genomics: How to convert one who does not want to be converted

Recently, I have been engaged in one of the best academic experiences I have had in my many years of formal education as well as many professional conferences. It was at the University of Minnesota School of Public Health Summer Institute. One of the courses that I have been taking is Genomics. We have had many knowledgeable experts with great communicating skills as well as well informed multi-disciplined student participants.

After one of our sessions I enetered in a conversation about stem cell research with someone that strongly opposes the entire issue of stem cell research based on his religious belief that scientists are entering in the realm of things that are really God's business. I was stopped for a minute, but not entirely surprised because we have had discussions about similiar issues and his response was usually very closed end and not allowing for a dialogue.

Based on a very inspirational speech on the first day of the Summer Institute and our many discussions in class about educating the public, the idea flashed to me almost instantaneous. I told him that in a way he was correct that we were entering the "God" area of creating and healing. But, I pointed out, didn't we do that daily when we take an aspirin or a dose of penicillin or subject ourselves to a surgical procedure. ( I knew his wife has been having several surgical procedures and was on several medications). He thought for a while and then he agreed with me. The barriers were lowered.

This person has expertise in construction. I went on to discuss with me that if his religious belief gave credence thst a higher being is responsible for knowledge, the very fact that we have moved from living in caves and trees to big beautiful homes that has allowed us to live in Minnesota in 30 below weather, quite comfortably, then that same higher being has supplied some with knowledge to study the genome and its applications and implications. We were able to have a very long in depth discussion about stem cell and what it really means and the implications for addressing various diseases.

The point of this story is that experts should endeavor to educate the public. We need to learn how to market the message. Marketing may mean we need to custom taylor to fit the audience. The problem is that the package has been pre-assembled and we move the package around to various user groups. Like the glove in a famous murder trial several years ago, it doesn't fit...

Petrona 

My heart-stopping experiences

Hi, I’m Tina.. I live in Greenford, a suburb in North West London, England. Recently, an article about me was published in This is Local London, by Benedict Moore-Bridger.
Twelve years ago, I had a seizure and stopped breathing. My husband, Peter, who is a firefighter, managed to rescuscitate me that day and again in 2002, when I had a suspected cardiac arrest while I was asleep.

After this second event, doctors decided to give me an implantable cardiacdefibrillator (ICD), paid for by the National Health Service (NHS). We have national health care in England. The defibrillator saved my life. I have had three more cardiac arrests and each time it has done its job.

I’m sharing my story with Geneforum because I want to help other families with the condition and help others with potentially genetic conditions learn that genetic testing can provide answers and help people who are unaware that they carry a problem gene. In 1996, I joined the Cardiomyopathy Association's network of people who offer support on the telephone. My family and I also began raising money for the charity to help it develop its services. I am very passionate about wanting to help the Cardiomyopathy Association in its work. The charity's aims of raising awareness of the condition with the general public and the medical profession are vital.

By now, you may be wondering what my story has to do with genetics. At first, doctors thought I might have epilepsy. Then, they identified “dilated cardiomyopathy”. I have an an enlarged heart that pumps less effectively. First, they treated it with drugs, and then gave me the defibrillator.

While under the care of the Heart Hospital in London, I was offered genetic testing as part of a research project. The test identified the gene mutation in my family and revealed I had a different type of cardiomyopathy—arrhythmogenic right ventricular cardiomyopathy (ARVC). In this condition heart cells become damaged and are replaced by fat and scar tissue.
My parents, siblings, children, aunts, nephews, nieces and cousins have all been tested and several of them have been found to carry the gene. They are now receiving appropriate care. Unfortunately, genetic testing is not currently available on the NHS and some affected families are not getting the regular heart screening needed.

I want everyone to know that cardiomyopathy is not rare—around one in 500 people are thought to have it. Also, evaluation by a cardiologist is needed for a definite diagnosis of cardiomyopathy and its type, to assess the outlook for the patient, and to treat complications. With more awareness, more genetic testing and heart screening for affected families, many lives can be saved.

For more information about cardiomyopathy, go to www.cardiomyopathy.org and for more information on specific types of cardiomyopathy check out http://www.cardiomyopathy.org/html/which_card.htm.

Not Native Fruit

When I was growing up, my mother hinted that we had a family secret, and her eyes would light up with delight. Sometimes she hinted that we might be part native American on her father’s side, and I thought this could be the secret. My known ethnic origins are Danish on my father’s side (he was born in Denmark, had a sea-faring career that brought him to the U.S.), and on my mother’s side, English and Irish. Because of the unexpected twists and turns of life, my mother somehow never got around to telling me her father’s family secret.

Just lately I’ve really been wanting to know, but now there is no one to ask. So I began doing standard genealogical research in the hope of finding something. However, there are many ways to cover one’s tracks on the paper trail when a ‘secret’ is involved. I enjoyed that process but did not uncover anything that could be interpreted as a ‘secret.’ In terms of written documents, I’ve so far traced our family back as far as 1710. From my reading about the early Colonial period, I’ve deduced that if the secret in our family was an inter-marriage between people from different continents it would have happened back then.

One day it occurred to me that a DNA test might give me at least some hints about any unknown family ancestry that would have been kept as a ‘secret.’ I might at least be able to contextualize things. I had no idea whether I was correct, but I went on line and did a search. Soon I was turning up sites that offered DNA tests to determine ancestry. I soon found out that since the information I’m seeking is about my mother’s father’s family, the mtDNA and Y-DNA tests would not show me anything, so I decided to opt for the autosomal DNA test which gives a fuller palette of ancestry from all direct ancestors going back several generations. I chose DNA Tribes, because their website is very user-friendly, their graphs and FAQ were articulate and complete. I felt they made an effort to help clients interpret their results. My results were not anything that I was expecting.

I scored a very high probability of having primarily Turkish ancestry, which was a complete surprise. I also had an awful lot of Polish! I did not score high on any of the Native American indices, but had enough sub-Saharan African ancestry to make that non-European influence interesting. I had to go back to the drawing board. I thought about it: the Danes at one time had an empire around the Baltic Ocean, including parts of Poland. When I visited Denmark in 1968, my relatives had a young Russian man living with them as a boarder, and I found out that Denmark and Russia have a long history of interrelationship. Since then I’ve found out that many Poles, Russians, and Finns, seeking employment, have emigrated to Denmark. So the presence of very high levels of Polish-matched genes in my own genetic fingerprint makes sense. My mother’s family were long-time residents of southeast Pennsylvania, with documentation in Philadelphia, Bucks and Carbon Counties. They were laborers, and the original ancestor most likely came over as an indentured servant. Such persons often paid their passage to the new world by promising to serve as a slave for a certain number of years, usually four or seven. In the genealogical records there are several persons bearing our surname who came to the new world in just this way.

In the Colonial period, there was a great deal of intermarriage among indentured servants, which would have included Africans. In those days (the seventeenth and early eighteenth centuries) Africans brought to the Americas generally served a term of years in slavery and were manumitted at the end of that period in the same manner as Europe’s indentured servants. By 1723, Pennsylvania passed a law forbidding marriage between black and white persons. However my ancestors seem clearly to have been living here before then, so there is indeed a fair probability that one of my early Colonial ancestors may have married an African or someone who was part-African.

Intermarriage among those of the indentured servant class and native Americans was also very common, so our family tradition of being ‘part-native-American’ may also be true, although I still lack any direct evidence of that at present. When I look at my results as a whole, I see a sea-faring picture. The Turks were great seafarers, and got all around the Mediterranean and up the west coast of Europe. My DNA results show ancestry in all these areas: Yugoslavia, Italy, North Africa, Spain, Portugal, Ireland, Belgium, Denmark. All accessible by sea, all accessible to Turkish sailors. Even in the New World Turks were among the first sailors. The earliest unsuccessful colony in Virginia was made by a Spaniard and his Turkish sailors in 1526. So, the Turks got around, and this high percentage of Turkish-matching genetic material in my DNA fingerprint affirms my family’s sea-faring tradition. There are very ‘old Americans’ who claim an origin around 1600 among Turkish sailors, native Americans, other Europeans, and early blacks.

My autosomal DNA test doesn’t ‘prove’ anything or give me any additional genealogical information, but it has helped me to contextualize my genealogical search, gives me more direction, and nuances my expectations as to what I will eventually find. I feel satisfied that this test has helped me to know more about myself than I otherwise would, and I appreciate that help very much.

Starr's story: The importance of family history

As a professional genealogist, Starr understands the importance of knowing not only her genealogy but her family health history too - she has survived breast cancer twice. “Having recurrent breast cancer felt like a death sentence. But because I knew my family health history and that four generations of my father’s family had died of cancer, I was able to get screened sooner. Now my family talks about our family’s health history and uses this knowledge to make better decisions about screening.” Starr recognizes that knowing your family health history is important for your own quality of life. If one of your family members had a disease or health condition that you could inherit you need to keep a close eye on it. “Family health history impacts my family in many ways. It helps you to be aware of what is going on with your health and to have the right things checked sooner as opposed to later.” For Starr, letting her children and other family members know about the conditions that run in their family is important because if they are at risk and the disease is found early there is a better chance of survival. “Nobody wants to see their children suffer from a disease that could have been prevented if they had known there was history of it in their family.” She knows it can be hard to get your family excited about family health history but talking about it can help family members understand that this affects not only their life and their health but their children’s too. Starr also encourages people to learn about their family health history through genealogy. “Most of us probably have some of our family health history in our genealogy records and we don’t even know it,” said Starr. “Using what you already have can help you start a conversation with your family.” Remember as you are collecting genealogical information the cause of death and health conditions just come along with it. There are many forms that have this information and it helps you to get know your ancestors better.

Susan's Story: My husband died too early

Susan’s husband Rex died at the young age of 52 from massive hereditary heart disease. Despite the fact that her husband Rex had a family history of early heart disease, his condition went undetected until his death. When he died, the doctor told Susan that his heart disease probably started when he was in his twenties but nothing was done about it until it was too late. If Rex and his doctor would have been more aware of his family health history, surgery could have been performed that would have lessened his chances of dying at such a young age. Now Susan worries her four children may be at an increased risk of developing heart disease, too. After Rex died, their doctor explained to her children that this particular type of heart disease could be inherited. The doctor warned her children to not smoke or drink and to have annual check-ups with their doctors. Talking about their family health history and father’s death would be critical for their own health care decisions in the future. Susan doesn’t want her children to have to go through another tragedy and so encourages each of them to get an annual physical, not smoke, eat right, and exercise. Susan also reminds them of the importance of sharing their family health history with their doctor and family members. “We each need to be aware of our family health history and be responsible for ourselves. Maybe if my husband would had done this and been more aggressive, my four children would still have a dad,” Susan said.

Birthday Surprises

When I married, in 1968, blood tests were required to check for sexually transmitted diseases but people rarely took much of their family health history into account. I knew, from my husband-to-be, that his family had once been tested for a condition that had to do with copper in the blood, but that his father had refused to have him and his sisters tested. From my family, I knew there were instances of diabetes, but really didn't know much then about type I and type II. And--I had a PhD in genetics! When our first child was born, I was shocked at my mother's first question: does she have a clubbed foot? what a birthday surprise! Now, I know a lot more about genetic conditions in my family, including the eye twitch that I develop when I am nervous and what we call the "Godfrey gene"--a great difficulty in translating written words into sound and vice versa. As my children married and give birth to their own children, I am more aware of the influence of family on the future. Maybe I'll even build a family health history some day.

Marie

IVF and Denova deletion ICSI

Online DNA Test: A Consumer's Experience

When our Professor Greg Fowler, PhD brought up the idea of having a student take a DNA test so that our class could critique the process, I sat back thinking this wasn't such a great idea. Not only would the student have to deal with privacy in the sense of negotiating privacy statements online, but they would also be under some pressure to disclose test results in class and at a public forum.

But, the test would be free thanks to a connection Professor Fowler had with DNAdirect.com. He suggested a hemochromatosis test and until the moment he brought it up, I had never heard of hemochromatosis. As we looked up more information about this potentially devastating disease, I realized that on the surface of it, I was a very likely candidate to have the genetic markers for hereditary hemochromatosis. Consider the following fact set presented at the DNAdirect.com website:

My mother is of mostly Irish heritage and my father is mostly Norwegian. My grandmother, father, sister and brother as well as I are all type II diabetics and none of us were morbidly obese when we were diagnosed suggesting a hereditary element to the disease. I realized that each one of the conditions above was relevant to me and it led me to think that if I was indeed a carrier of the genetic defect, I would be doing my family a great service in discovering a causal agent for both our diabetes, and possibly, for the untimely deaths of my grandfather and great-grandfather on my father's side.

Also, as a type II diabetic I take a medication that suppresses liver function and I imagined that hemochromatosis would be an especially devastating disease considering that it is associated with catastrophic organ failure if left untreated. I was swayed by these arguments and I decided to take the test.

DNAdirect.com was reasonably informative at their website and promised a full report on my results afterwards. After clicking around on the net on various sites, it was apparent that not all companies took privacy very seriously. DNAdirect.com to their credit, did provide a reasonably complete privacy statement, but what is lacking there and at virtually every site I looked at was what exactly happens to the information after it is provided to a laboratory. Some online companies say they destroy the sample, others do not even say what they do with it at all after the test. At DNAdirect.com, they promised to remove my information from the sample theoretically making it anonymous - at least in their system. The actual test was sent to Myriad Labs in New Mexico and is subject to their privacy laws.

While the idea of my DNA being used for future research doesn't particularly worry me, the idea that digital files that can identify me probably exist at a laboratory that also has my sample of DNA. DNA, no matter the level of security, is still an absolutely personal source of identification - does CSI ring a bell? I bring this up because it was one of the most anxiety causing lines of thinking regarding the taking of this test. But, it is also true that if I had a test done through my doctor, my HMO would probably have a similar arrangement with the lab doing the test. The difference then, by going direct was that the HIPAA privacy and sample usage protections only kick in if I use health insurance to get the test.

Still, I moved forward through the process until I was confronted with the final screen - the agreement with DNAdirect.com. Anybody who has installed software on their computer has seen the equivalent of this screen. It was a gray two by three inch window that contained an eight page document full of legalese, much of which closely resembled the privacy statement. However there was some new information that made me pause. When applying for health or life insurance or employment, some agencies may request information about genetic testing. Failing to provide relevant information upon request from employers, health or life insurance providers may be considered fraudulent or other violation of the law. (DNA Direct test agreement, 2006)

This was an aspect of privacy I hadn't thought of at all. If a healthcare provider, insurance company or employer request this information and I don't disclose it, I am committing fraud. One criticism that I have regarding the marketing of such tests is that if the information is legally available from me upon request, then the company should have to avoid wording in their advertising that suggests that the test is absolutely private. Still, even after reading this, I hit the "accept" button.

The next steps were to talk to a doctor and a genetic counselor before taking the test. My doctor was gracious enough to talk to me about this test. I had been sure about the test being indicated for me. She said that she never would have ordered the test since there was no history of liver disease in my family and I was not expressing any of the symptoms of the disease. Instead, if she were in any way suspicious of hemochromatosis, she would order a series of simple and inexpensive blood tests and look for elevated iron content.

When the test arrived, I opened the packages carefully and laid it out. I took out my testing checklist and cleared off the kitchen table. The envelope containing the sensitive swabs and the foam holders for them were opened last and laid out in a solemn orderly way. I remember hearing the kittens playing in the background and not thinking anything of it. Did I mention that my wife and I have two six month old kittens? The male kitten named Richard Parker jumped up on the kitchen table slid into my DNA test sending everything to the floor. Since the test did not identify me as half Burmese and half Tabby, I assume it was my DNA that was tested after all. But, I think this anecdote brings up an interesting point about home tests - the testing environment is far less controlled than a doctor's office and the lab must assume the sample was mine. Still, the test was easy to take. Just as the advertising for online DNA testing promised; anyone could do it, even Richard Parker and me.

The most difficult aspect of the test was figuring out what the possible outcomes really meant. This test screened for three genetic markers, but these markers are not created equal. In fact, there are an estimated 40 markers associated with the disease. According to NIH, a double expressing of the HFE 282y marker was associated with roughly 85% of all hereditary hemochromatosis cases. In order to have a double expression of the gene, one would have to inherit one copy from each parent for it to be on both copies of the gene. The odds of that happening for me were that my father of northern European descent had a one in ten chance of having the defect and my mother had perhaps a 25% (she is probably not 100% Irish) chance of having it producing a 2.5% chance for me to have a double expression of the defect. But wait, even if both my parents had the marker to give, any offspring would only have a 25% chance of getting a double gene expression making it a little more than a .8% chance of having what is by far the most common associated marker to the actual expression of symptoms of hemochromatosis. That is an 8 in one thousand chance of having the double gene expression associated with 85% of all hereditary hemochromatosis.

The actual expression of the disease for someone with the most likely gene expression occurs in 50% to 93% of those who have the double gene expression (Toland 2000). This means that .4% to .75% of the population who are considered as at risk for hemochromatosis as I was, ever develop symptoms.

Flying in the face of privacy concerns, I will now brazenly tell you one last bit of my medical history. I do not have any of the three markers, indicating that my chances of ever developing symptoms from hemochromatosis is roughly .3% to .5%, or the same as everyone else in the general population. The point I am trying to make here is that if tests are marketed directly to consumers, then we should find ways to make clear a reasonable prognosis of what the test is really going to mean. As a genetic counselor pointed out to me, these tests are only part of a much larger picture, and doctor's offices are more likely to have resources available to them that can interpret results in a meaningful way. If I were to make a single recommendation for the marketing of these medical screens, I would say that something akin to an FDA label should be available, giving in concise relatable terms several data fields. The following should be available to anybody considering the test:

I am sure that if I were confronted with the knowledge that I had a .2%-.5% chance of developing hemochromatosis if I were from the general population, but nearly a one percent chance given my ancestry, I might not have been so impressed with the idea that taking the test was worthwhile. Perhaps I should not be so smug, after all, we may have only proven that the handsome kitten named Richard Parker, is at not a high risk for developing the symptoms of Hemochromatosis.

Vern