In those 'Genes'
I would much rather be writing about my interpretations of Ginuwine's song "In Those Jeans" but given our situation I think it may be more appropriate to discuss how Genes potentially impacted Stephanie's development of this disease.
When we first learned she had a mass we were quite optimistic that her mass was benign. We felt this way because ovarian cancer is a disease primarily afflicting women above the age of 40. The median age of the largest research study done of women with ovarian cancer is 60 years old. Given the fact Stephanie went into this surgery as a young healthy woman without symptoms, statistics seem to favor a benign diagnosis.
When we learned her diagnosis we started searching for answers. Why did this happen? Too many Totino's pizzas, too much white queso, too much snuggling with Momo? Too much HGTV? We quickly learned that there was a 15-20% chance that Genes / Genetics could be a root cause of this disease. We were then referred to a Genetics Counselor for a genetic mapping consultation.
Genetic mapping is another thing we knew nothing about but we set out to learn how this could have impacted Stephanie developing this disease. Our doctors suggested that Steph could have a genetic irregularity or a mutation (whatever you prefer to call it). The Genetic Mapping test is one that compares Steph’s genetic makeup with thousands, if not millions, of other people's genetic makeup. This massive database of genes helps scientists pinpoint differences or irregularities that are commonly associated with a higher probability of disease. To simplify further, if you have the same genetic irregularity as 100,000 people and 80,000 of those people have the same disease, your probability of developing said disease is increased.
We learned that Stephanie has irregularities with two genes: CHEK 2 and BRCA 2. People possessing one or both of these gene irregularities have significantly higher risks of developing several different types of cancer. Below I have included a few brief highlights of the significance of these two irregularities. Please keep in mind that I am simplifying this science dramatically for our purposes. I suggest that you take a few minutes to research these genetic irregularities because there is a vast amount of science that I am intentionally leaving out of this post. My intention is to provide the general 'gist' of what factors are affecting Stephanie.
Unfortunately, this post is all about the bad stuff in genes. I truly wish that this post was about the awesome song by Ginuwine intimately describing the good things inside of jeans. With this in mind, I will at least end by encouraging you to check out this song.
When we first learned she had a mass we were quite optimistic that her mass was benign. We felt this way because ovarian cancer is a disease primarily afflicting women above the age of 40. The median age of the largest research study done of women with ovarian cancer is 60 years old. Given the fact Stephanie went into this surgery as a young healthy woman without symptoms, statistics seem to favor a benign diagnosis.
When we learned her diagnosis we started searching for answers. Why did this happen? Too many Totino's pizzas, too much white queso, too much snuggling with Momo? Too much HGTV? We quickly learned that there was a 15-20% chance that Genes / Genetics could be a root cause of this disease. We were then referred to a Genetics Counselor for a genetic mapping consultation.
Genetic mapping is another thing we knew nothing about but we set out to learn how this could have impacted Stephanie developing this disease. Our doctors suggested that Steph could have a genetic irregularity or a mutation (whatever you prefer to call it). The Genetic Mapping test is one that compares Steph’s genetic makeup with thousands, if not millions, of other people's genetic makeup. This massive database of genes helps scientists pinpoint differences or irregularities that are commonly associated with a higher probability of disease. To simplify further, if you have the same genetic irregularity as 100,000 people and 80,000 of those people have the same disease, your probability of developing said disease is increased.
We learned that Stephanie has irregularities with two genes: CHEK 2 and BRCA 2. People possessing one or both of these gene irregularities have significantly higher risks of developing several different types of cancer. Below I have included a few brief highlights of the significance of these two irregularities. Please keep in mind that I am simplifying this science dramatically for our purposes. I suggest that you take a few minutes to research these genetic irregularities because there is a vast amount of science that I am intentionally leaving out of this post. My intention is to provide the general 'gist' of what factors are affecting Stephanie.
- CHEK 2 - An irregularity with this gene indicates a much higher risk of developing breast cancer and Li-Fraumeni syndrome.
- BRCA 2 - The BRCA gene is probably one of the most famous genes because celebrities such as Angelina Jolie have been tested for this genetic mutation and have decided to take proactive steps to prevent development of diseases like breast cancer. Mutations in the BRCA 2 gene indicate a potential increased risk of developing breast (male and female), ovarian, Fallopian tube, prostate, and pancreatic cancers. In addition, it indicates increased risk of malignant melanoma.
Unfortunately, this post is all about the bad stuff in genes. I truly wish that this post was about the awesome song by Ginuwine intimately describing the good things inside of jeans. With this in mind, I will at least end by encouraging you to check out this song.
You are in my thoughts and prayers as you fight this cancer.
ReplyDelete