The New England Journal of Medicine recently released a paper on an extremely rare set of boy/girl sesquizygotic twins. Early in the pregnancy, it was noted on ultrasound that the twins shared a placenta, indicating they were likely identical twins. Sesquizygotic twins have been reported in the literature before, but this is reportedly the first case of it being detected during a pregnancy.
Sometimes I fear the media attention of direct-to-consumer test in recent years comes at the expense of the most vulnerable in society: children and adults living with rare disease.
These individuals and their families must continually fight for recognition of their needs, for their rights to access and secure financial coverage. Few people other than those who have been through a challenge navigating the medical system with a special needs family member recognize the journey can be tough and long.
For these people, DNA testing isn’t just for curiosity’s sake. It’s not done because it’s fun or interesting to them. It can be a quality of life or a life or death matter.
YOU RECENTLY DISCOVERED A HALF-SIBLING. DID THIS SURPRISE COME OUT OF THE BLUE?
Jessica: I was not surprised to find out about a half-sibling as my dad was single after my mother and him divorced when I was five and did not re-marry until I was 10. He dated frequently during that time, from what I remember. My older sister made the discovery when she submitted her DNA first and found a “close relative” match but did not understand the implications until later.
Recently my sister asked my dad if he would be interested in taking a DNA test for genealogy purposes at which time he admitted he had another daughter. He figured it would come out if he ended up going through with the DNA test.
Heart Disease and why DNA matters
Genes involved in the function of our cardiovascular system differ, ranging from those involved in the structure of the heart, the shape and density of the muscle cells and connective tissues, and even the function of the cells involved in electrical signals that tell the heart to pump. Genes can even influence how much cholesterol our bodies create. (You read that right! Not all cholesterol comes from our food!).
Valentine’s Day has come and gone, but it doesn’t mean we stop talking about hearts! February is Heart Month, which makes it a perfect time to discuss heart health and how genetic counseling and DNA testing might help you understand your chance of heart disease.
Helping everyone get connected to reliable information to understand DNA testing - whether for ancestry purposes or medical - is a central goal of my blog, so I’m taking a detour from my recent posts on family matching surprises to visit this DNA health topic. This posts kicks off a three-part series on DNA and heart health. Part one will cover the basics before we dive further into genetic counseling and at-home tests and third party reports that give information related to cardiovascular issues.
Our genetics can contribute to a chance for heart issues, but it’s not the only factor. Read on to learn more!
The recorded re-telling of a painful and emotional experience of uncovering a DNA surprise is helpful for others to read. It supports and validates others who are going through the same thing, and it provides insight for the friends, family, and professionals who will be there alongside a person on their journey following the unexpected discovery.
An important point that my next guest blogger, Christa, makes is that receiving the truth from her mother rather than denial held so much value to her. She was so grateful that her mom ‘came clean’ straight away when she came to her with the discovery that the father she had grown up believing was her biological father was not.
If you are a parent of a child who was conceived with a donor egg or sperm and they do not yet know it, the time to be proactive is now. Consumer DNA tests like 23andMe and AncestryDNA are changing the way people discover their genetic origins, and this new reality has implications for many people, including those who have kept the secret of donor conception hidden from their children.
I recently spoke with Brian Hickey who writes for PhillyVoice. In this piece which covers the topic of support after unexpected DNA discoveries, I shared my thoughts on the topic and touched briefly on the role grief and support play in these experiences.
You can find the article HERE.
A story was posted a few days ago on Reddit by someone claiming to have discovered he and his girlfriend are half-siblings, the discovery coming after both opted in to the DNA Relatives feature for their 23andMe test.
Both reportedly knew they were donor-conceived and were on the hunt for their paternal biological families, but apparently neither was suspecting the possibility they may have come from the same sperm donor. The discovery was reportedly and understandably traumatic, with the relationship being ended same-day and temporary thoughts of suicide mentioned by the writer of the Reddit post.
If you’re searching the web because your DNA test results have totally taken you aback, I am so sorry you are going through this. Ancestry tests work like paternity testing, in that they are able to detect whether or not you are matching to close biological family correctly or not. The results can be confusing, especially to someone not familiar with the way ancestry test results are displayed.
If your results just came back today and someone you are expecting to see in your match list isn’t there, first of all give it a few days - make sure the testing company’s system has had a chance to finish working through and matching you to their large database of other testers. Sometimes you just need a little more time for all your DNA matches to show up properly.
Many of us take medications to stay healthy and treat conditions such as depression and cardiovascular disease. However, some people respond differently to some medicines, and part of that difference is due to our genetic makeup. Genetic tests that identify and characterize these variations are available, and you may be wondering if those tests are a good idea for you. Here are some points to consider:
I recently spoke with Sonya Collins who writes for WebMD Magazine. I shared my thoughts and advice on at home DNA tests based on years of both personal and professional experience, and I was pleased to see TWO articles come from it!
Please read, especially the second article! It will equip you to be a savvy chooser of a DNA tests you might purchase online and you can find more detailed advice than what made it into the article HERE.