I think I blogged many months ago about Brandon taking the complete genome tests and receiving results based on Brandon's complete profile. I had to debate with myself about whether Brandon should have these tests and would it help in regards to Brandon's current medical condition. This debate with myself started after Brandon's last hospitalization. The neurologist at the hospital did complete testing concerning Brandon's seizure activity including any genetic tests indicating a diagnosis for a progressive seizure disorder. As a result, Brandon had some tests that came back as positive. But those tests are so rare that there is no know condition associated with the gene. Therefor, the neurologist referred us back to the geneticist to perform more tests and determine impact on the ones where we had results. The complete genome tests became available within the last two years and as every day passes physicians learn more and more what each conditions (or no conditions) genes indicate. If you are into this kind of medicine it is fascinating and can provide endless hours of research. Here is a good site http://www.genome.gov/10001691
If you are a parent, the results can be overwhelming. As Brandon's geneticist indicated there have been some shocking results that have come in from these tests and then there have been many results not coming back with much of an answer. I am writing about this because many of my friends are now considering whether to have their child take these tests in their quest for better diagnosis. If Brandon's condition had not deteriorated before we had taken this test I might have reconsidered. Brandon's condition is now stable and my desire to find the right diagnosis is not as high as it was 1 year ago. But we now have all the conditions identified from the tests. For those parents wanting more information on some rare conditions, here are some good websites. Brandon is already registered for a rare gene anomaly 7Q.36.3. Every time we have this test the gene is identified. With this site you can search for other people with the same genetic marker and try to identify if there are any identifying features that are common. www.rarechromo.org. This is a great family site. For 7Q.36.3 duplication it is now fairly easy to find other people in the world with the same condition. Kind of amazing. Another great site is http://www.rarediseases.org/
The tests first identify those genes likely to explain symptoms of the patient. They will be listed as the name of the condition or gene and whether the two data bases consider the condition tolerated, benign or damaging. There is more information provided about the type of gene (novel variant, etc), the gene number, etc. According to Brandon's geneticist everyone has many results in these tests because we all are carriers of certain genes that are unique to us. Brandon is no exception. The first set of results indicated several possible diagnosis such as cerebellar ataxia, congenital disorder of the glycosylation, osteogenesis imperfect type 1-4. We ruled out osteogenesis imperfect and a few other conditions. The cerebellar ataxia does explain some of Brandon's conditions but not all. But once again, Brandon has a positive test for congenital disorder of the glycosylation (CDG). This test indicates Brandon is a carrier for Type 1 and type 1M. Here is a great site on CDG. http://www.cdgs.com/_about.html Brandon has had other tests indicating CDG or borderline CDG. When we have tested further the results have come back negative. Once again we pursued the CDG test knowing Brandon is a carrier and the test came back negative. Kind of frustrating since I know this is a repetitive pattern. But I moved past that and basically the first results of tests do not have any conclusive diagnosis. In two years we will revisit the results to determine if any new diagnosis have been determined from the results.
You also have the option for free to get the complete report which also identifies conditions Brandon could have in the future. This week we received the results of these tests. These were also numerous. Brandon could have in he future Birt-Hogg-Dube Syndrome, charge syndrome, colon cancer, glomerulocystic, Long QT, Short sleep cycle, the list goes on and on. We identified some conditions we wanted to check further and had blood, urine and radiology tests this week. The other possible conditions will get checked as Brandon gets his regular check-ups with his specialists. Dr Immken's staff did a great job categorizing these conditions and what symptoms are associated with these conditions. But overall it was pretty overwhelming
On the last page there are other mutations in genes with no current association with diseases. One of the genes identified functions in a protective capacity by promoting the clearance of bacteria in the oral cavity ad to aid in speech and swallowing. This mutation does not have a disease name at this point but this closely aligns to Brandon's disability. I know - this is all overwhelming. You should have been there. I am taking this like I have taken most of Brandon's possible diagnoses. Don't waste time on "what ifs" until the diagnosis is confirmed. It just isn't worth it. The results do tell me that we need to watch for kidney issues, colon issues, eye issues in the future and Brandon results will be kept in a database as researchers learn more about these genes.
I hope this helps someone in the future understand the genome testing.
On a personal note. I also wrote months go that I needed to concentrate on my own health issues and take better care of myself to be here for Brandon in the future. I am happy to report that I have lost 32 pounds. My goal will be to reach 8 more within 6 weeks. My tests for high cholesterol are now in normal limits and I am off medicine. My diabetes in under control with my medications reduced by 2/3s. With the loss of 8 more pounds the goal is to be only on 1 medicine. I am feeling much better, more energetic and in much better shape. Life will not stop after the last 8 pounds. I will strive for more, but I am being realistic and trying to focus on healthy eating, exercise, water and rest.
So great success for the Rummel family. Brandon is still seizure free over 1 year and I am feeling better than I have in years. Its all good right now.
More transition news next post.
Leah
No comments:
Post a Comment