Well over a year ago I wrote a post about the genetic tests J was having.
He had the standard tests on the NHS, after a geneticist was convinced he had SMS - Smith Magenis Syndrome. But he was cleared of the 40,000 genetic tests - from one blood test - that were carried out by her.
Because of this, the geneticist referred us to the DDD study in Cambridge, UK. This is a private study, of a cross section of children, with an undiagnosed genetic condition.
The difference between these two studies is the amount of conditions they test for. The DDD study looks at around one million conditions, many more that the 40,000 on the NHS.
We still have not heard any results, but I have found out that a lot of others have not either, so I am not too concerned.
As I have always maintained, the emergence of a positive result to these tests would not change anything.
The two most important aspects for me are ; ensuring J does not have a condition that will impact on his life expectancy, and being assured I am not a carrier of a genetic condition that has bypassed my other two children, but for which they are carriers - passing on to their potential children. If so, they would be informed, and would be able to have genetic counselling with their partner.
This is the first post I wrote Blood Test and Gen App
Then an update Some Results
Final post - Here
