My son was suspected of having Down's syndrome at birth and was examined by a geneticist while still in hospital. We received the results of the tests they ran (all normal) at the time and were told all the features that raised the original concern were determined to be a "variation on normal" by the genetics team. Fast forward several months later and a review in clinic with the geneticist resulted in further investigations. These were solely based on the fact that my DS's features had not softened as they thought they might (e.g. he has a low nasal bridge) and so the geneticist wanted to run further tests to see if there was a genetic explanation for these features. Among the things that they've considered and ruled out are mosaic Down's syndrome and metabolic disorders. The actual tests run are quite a lot so I won't list them all here, but now they are offering whole genome sequencing as they say it's still possible he has a genetic condition.
AIBU to want to say enough is enough with the testing? I want the best for my DS, but he's now nine months old and growing and developing normally and is generally in good health. I've paid privately for assessments of his development too to be sure I'm not just in denial about things. The whole process has been absolutely debilitating for my mental health and I'm getting counseling via the NHS, but honestly feel that the only real "cure" will be getting discharged so our family can move on from things. It's hard not being affected by the continued focus on my DS's looks and admittedly I have depressive episodes as a result. I feel it cannot be good for my DS if the process of genetic testing is impacting our family so much (it's affected my DH too, but he manages to hold in his emotions more), especially if my DS is well and healthy and struggle to see the point of further testing.
AIBU?
AIBU? To want to stop genetic testing for DS
Redstar2015 · 26/03/2024 14:38
Greenvelvetdress · 26/03/2024 14:50
I'd go against PP and say it's upto you as a parent to make that decision right now and if it's not what is right for you and your family, then don't do it.
Like you say he's developing as expected and you have no concerns. You can end up finding genetic defects that are of no significance and cause more worry. As long as he's doing everything fine then he can always be tested in the future.
CurlsnSunshinetime4tea · 26/03/2024 14:50
At 9 mths everything appears fine but this might not be the case at 5 or 15 yrs. By then being seen and referred to specialists will be harder and most likely at a time when he is struggling.
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