More Than You (Or I) Ever Wanted to Know About Genetics

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The last few weeks have been filled with several doctor appointments for Campbell and I’ll admit my brain is on information overload.
One of those appointments was to the geneticist that involved over two hours of updating her medical information along with listening to her doctor explain the newest advances in the fascinating but complex world of genetics.
I’ll be honest, I’ve had trouble with trying to explain everything to family, friends and her therapists, much less writing this blog post without confusing everyone and ultimately myself. Sometimes the more you rehash something, the more questions you have.

As I relay all of this information, I often feel like we are under a microscope and in some ways, I guess we are. A lot of the testing performed on people who are undiagnosed is not only to find a diagnosis for the individual, but to add to the growing body of research in genetics and potentially help someone in the future.
I’m all for scientific research and as long as it isn’t hurting Campbell, count us in. If we find a diagnosis, that would be even better.
Her doctor explained that he would like to do a new test called Whole Exome Sequencing (WES). It looks at most genes and is indicated in individuals whose medical and family histories suggest a genetic cause for their signs and symptoms and have had other genetic testing with no diagnosis.
Despite being the most comprehensive genetic test available, it still only yields a diagnosis in about one in every four people (25%) who have the test.
While the odds aren’t anything to get too excited about, they are better than what we had before we walked in for the appointment.
The WES is a simple blood test for Campbell, my husband and myself. Testing all three of us is the preferred method because it allows them to weed out any DNA differences that the child may have that is shown in one of the biological parents.
Simply put, if the child has the same differences as one of the parents and the parent doesn’t have the same symptoms, then it is not the cause.
This happened to us early on in our journey when we all three had a chromosome microarray test. It revealed that Campbell had a balanced translocation of two chromosomes. This is when two chromosomes break apart and switch places but no genetic material is lost. Theoretically, it shouldn’t cause any “abnormalities” or problems but since there wasn’t another answer they looked closer.
That was when they found that my husband had the same chromosome translocation and since he didn’t have the same problems she did, we were back to square one.

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Even with this new testing, there can be tens of thousand differences in DNA so eliminating any of those by testing the biological parents will help with the process.
As we listened to all the benefits of finding a diagnosis, we were intrigued to learn there are secondary findings as well. WES identifies 57 specific genes that are generally unrelated to the individual’s present signs and symptoms.
Mutations in these genes may lead to serious health problems such as some inherited cancers, connective tissue disorders associated with sudden cardiac events, certain types of heart disease and susceptibility to complications from anesthesia to name a few.
Many of these can be monitored, treated and potentially even prevented if your doctor knows about them in advance.
The question becomes, do we want to know this information for not only Campbell but for ourselves?
My husband said he wanted to find out for himself without any hesitation. He claims he likes to be prepared for the worse and isn’t afraid of death (those were his words).
I didn’t have to think very long before I decided I would want to know for Campbell. I’ve always been very proactive when it comes to her care and would want to know if there was anything we could do to prevent a potential problem and increase her quality of life and possibly even her life expectancy.
So why would I hesitate to do the same for myself?  The more I think about it, it shouldn’t be a question.  I need to be around for as long as possible to care for Campbell, see Matthew have a family of his own and enjoy a long life.
But there are legitimate concerns and questions that need to be considered.
I think the common argument that people have, and I’ve contemplated myself, is the potential stress and worry over knowing you had the gene responsible for a bad disease.
There are never any guarantees that the condition could be treated or prevented successfully.
Then there is the question of having this information in your medical records. Will this impact insurance coverage in the future? Could an employer discriminate against me in the future?
So far there have not been any instances where this has happened. In 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law and protects Americans against discrimination based on their genetic information when it comes to both insurance and employment.
However, life insurance is not protected and could be denied due to the information since it becomes a permanent part of your medical record.
Like I mentioned, it is a lot of information to process and research.
The three of us will go back and meet with the genetic counselor and have blood drawn next month to start the process. By that time, I will have made my decision to find out or not.
As I’ve researched this, I’ve learned that it is likely this type of testing with screening for genetic markers will be offered as a part of a regular checkup in the future. So I guess it’s something we should all think about really.
What would you do?
As always, I love to hear from you! Please make comments below or email me at michelle@chasingthecleavers.com. For further information about the Whole Exome Sequencing visit Cincinnati Children’s Hospital Molecular Laboratory site here. They have an easy to read guide for patients and families. If you or someone you know is undiagnosed, there is also a program at the National Institutes of Health that helps diagnosis previously undiagnosed cases. 

About the author

Michelle

Michelle is a writer based in Richmond, KY who is trying to navigate special needs parenthood and life in an imperfect world, all while keeping her sanity. She is on the board of the Bohring-Opitz Syndrome Foundation and is a contributor to The Mighty and The Today Show Parenting Team. She’d love to hear from you! Send her an email at michelle@chasingthecleavers.com.

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