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January 2025
Issue #39
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ConnectMyVariant members are sharing how they talk to families about hereditary disease.
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Taking every opportunity: A family letter, baby showers, and a cousins class
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In 2007 at age 47 I found out I was BRCA2 positive. My mother, my aunt, and their grandmother all had breast cancer. I am an RN and was collaborating with a geneticist who encouraged me to have my mother get genetic testing. Her oncologist at
the time did not feel it was necessary. We did genetic testing, and it was positive. Now for the unbelievable part of this story—my mother has nine full siblings and 11 half siblings. All the children have the same father, and, unfortunately, he was the carrier.
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With the help of my genetic counselor, I composed a letter to all my mother's siblings. I educated the family on the genetic test results and what it meant for them. I noted the gene so they could do site
analysis, and I encouraged them to talk to their children about the diagnosis. I made myself available for questions and further information. The letter was well received by some; others didn’t see the gravity of the situation. I would say about 10% did the testing. When I saw how few were tested, I sent a letter out to my cousins, of which there are many. I did see my cousins begin to ask their parents to be tested. During this time, three of my mother’s brothers were diagnosed with pancreatic cancer. Following this more family members decided to be tested.
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I used every opportunity to teach
about this mutation. Family wedding and baby showers seemed to be places where people asked questions. I also did an education class for some of my girl cousins. Along the way I have learned to accept that each person’s health beliefs are their own. I know I can encourage people but cannot push or guilt them into testing. I have also learned that genetics can be difficult for some people to understand, and I needed to show patience.
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—Kathy
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Sharing a genetic counselor’s summary letter so test results can be more informative
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Share the summary letter from the genetic counselor or other medical professional who facilitated the testing. These letters are typically written in very easy-to-understand language and are written with the intention of sharing with at-risk blood
relatives. The key pieces of information included in these letters are the specific variant that was detected in the given gene, the name of the laboratory that performed the test, the date of the report, and the specimen number and date of birth of the individual who tested positive.
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It is ideal for blood relatives
to be tested at the same laboratory as the individual who tested positive. This allows the testing laboratory to cross-reference results from different family members and provide the most informative report possible. If blood relatives have testing within a certain timeframe, testing for the family variant may be done at no charge. If it is not possible for blood relatives to be tested at the same laboratory, it is still very helpful for the testing laboratory to know the exact genetic variant that was detected.
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All of this information should be provided by the genetic counselor. If a letter like this is not provided to you, ask for it!
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—Amanda
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Self-advocating, even in emotional situations
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Throughout our 20s, my sister and I both expressed concern about possible heart issues to our doctors. We were both told, “You’re too young, what your mother had wasn’t genetic.” We were basically ignored by doctors, never actually receiving
tests to confirm “it was nothing.”
I was diagnosed with dilated cardiomyopathy at 32 with an ejection fraction of 40.
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Our mother had died at 42, and it was still an emotional topic to talk about with our dad and siblings. There is a 17-year age difference between my oldest sister and my youngest brother. He was two when she died
and sadly has no memory of her. I promptly told my Dad about my disease diagnosis because I was having a procedure and needed my Mom’s medical records. He was in denial at first, in complete disbelief as they were always told that what she had was not hereditary. I had to share the results from my first angiogram for it to sink in that it was true. The nightmare was happening all over again.
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When I received the news, it was
just getting started on the new medications. There was no talk of transplant. I shared the news with my brothers and told them they would need to get EKGs and echocardiograms to see how their hearts looked. Initially, I did not share the news with my sister because she was seven months pregnant. I was told by my nurse practitioner that it was dangerous for her if she had the disease, so I did tell her.
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Unfortunately she did have it. The doctors had misattributed her symptoms to the final stages of her pregnancy. Six months after she gave birth, she had a heart transplant. In January 2025, she will celebrate 19
years, and I am a little over 12 years. We are here today because of self-advocating.
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—Lisa
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Thank you to those who shared their experiences and expertise! If you have a story or outreach idea you’d like to share in a future newsletter, please email newsletter@connectmyvariant.org.
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Illustrations by Mark Hicks
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Volunteer to Staff the ConnectMyVariant Booth at
RootsTech
The Largest Family History Conference in the World
At the RootsTech conference, people and organizations from around the world share genealogy news and techniques. ConnectMyVariant will host a booth at RootsTech in Salt Lake City, Utah, from March 6–8, 2025. We have a limited number of free trade show tickets for people who are willing to help our volunteer coordinator Betty Parkins staff the booth for a few hours. If you live near Salt Lake City or are already planning on traveling to RootsTech, please volunteer. Email betty@connectmyvariant.org by January 17 to sign up or get more information.
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Donate
ConnectMyVariant is a 501(c)(3) nonprofit.
Your tax-deductible donation helps families prevent hereditary disease.
Visit our donation page at Every.org to give.
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ConnectMyVariant's Mission:
To end hereditary disease by bringing families together. |
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