A look into our DNA

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My cell rang and it was U of M.  The typical number that comes across for all departments regardless of what they are calling for; 734.232.0000 (not that I have it memorized).  Most of the time this is a call reminding us of Camden’s various therapy appointments but this particular call was a call we had been waiting for for a couple of weeks; like many times before I scurried off my other call.  It was Dr. Innis (Genetics) with Camden’s chromosomal microarray genetic test.  The results?  Normal. Camden’s chromosomes were all there; nothing missing and nothing extra just as Dr. Innis thought they would be when we saw him the month prior.

What was next?  Camden was a couple months shy of 2 years old, not walking or talking despite weekly therapy visits. He had made a lot of improvement in the crawling department though!

Dr. Innis continued along his investigative process that he discussed at our previous appointment.  He wanted to complete whole exome sequencing (WES).  What is WES?  Whole exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders. In WES, protein-coding regions of all genes (~20,000) of the human genome, i.e. exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located there.

Craig, Camden and myself needed to provide a blood sample for this test.  I wish I had a video of the three of us having our blood drawn for this.  It started as a calm experience and progressively escalated into pure terror by the last draw as the three of us went through our blood draws….one of the C’s was the last to have their blood drawn and it wasn’t Camden😊. Once they run Camden’s sample through the test they then turn to the parent’s blood and test for any abnormalities to see which parent, if any, passed the gene onto him.

We met with a genetic counselor prior to having our blood drawn so she could explain the potential downsides to having this test and to ask us if we were interested in secondary findings.  The downsides to this testing were not anything that concerned us but they have to go through it with every patient.  For example, a test could show that a father may not be the biological father of a child. This test could also reveal that a couple may be related by blood. The secondary findings were something we thought through extensively prior to providing our decision.  A secondary finding is a test result that is not expected and is not related to the reason for doing the test. For example, a genetic mutation in a gene that is not related to the patient’s condition is considered a secondary finding. Secondary findings may have important implications for your child’s health.  For example, the American College of Medical Genetics and Genomics has recommended that all laboratories that perform WES report mutations in 57 specific genes generally unrelated to the patient’s present signs or symptoms. Mutations in these genes may lead to serious health problems, but these problems can be monitored or treated if your doctor knows about them. These disorders include some inherited cancer syndromes, connective tissue disorders associated with sudden cardiac events, certain types of heart disease, high cholesterol and susceptibility to complications from anesthesia. If a mutation in one or more of these 57 genes is identified, it will be included in the secondary findings section of the report.  Some other genetic disorders do not have any effective treatment and may lead to death or lifelong disability.  These types of results are also included for your child and any family members whose DNA is used for testing in the secondary findings section of the report.  (Referenced from the Cincinnati Children’s Hospital webpage).  One of the disadvantages of knowing this information is first and foremost, the plain processing of knowing your child has one of these mutations that can lead to some pretty serious medical concerns later in the life; and then also your child’s ability to apply for and receive disability and life insurance would become more difficult and costly.

After a lot of consideration we opted into knowing the secondary findings, we felt like the benefits outweighed the risks.  As far as finding out the results for this test…..we had to wait three and a half months.  As you can see we were starting to get pretty good at this wait and see game.

Until Next Time,

3C’s and a K

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