We’ve had what feels like a long and arduous journey towards 2019 but now we’re here I for one and feeling more hopeful. One of the reasons is the arrival of this ⬆️, doesn’t look like much eh? Well to us it’s the penultimate piece of our puzzle, the feeling that the end is nigh. This is the second part of the research study we’re involved in.
When I was pregnant I was asked if I wanted an amniocentesis to rule out 22q11.2 deletion syndrome or DiGeorges, we turned it down as we didn’t feel it would change our minds about the pregnancy if he did have it. Instead we opted to be part of a international research study, the first stage being a blood test when I was approx. 26 weeks pregnant. The second stage is to get a dna sample from Bertie and yesterday this finally arrived. Even though we aren’t particularly concerned about DiGeorge syndrome as our blood results showed low risk it’s still something that I think about from time to time and feel like this will be the confirmation we need to move on from that part of Bertie’s diagnosis.
This morning we took a swab from inside Bertie’s cheek, he was most perturbed that it wasn’t something he could chew on but managed to contain his disappointment during the 10 second procedure 🙄. It was really simple to do, probably helped that Lorna used to be a police officer and I’m a nurse so we’re not strangers to doing swabs.
Here it is, all bagged up and ready to go! We’re hoping the results are slightly quicker than it took for the test to get to us, I think it was supposed to be sooner than 7 months but who knows. All we have to do now is cross our fingers and hope for the best, but this time we definitely feel more positive and are really pleased to be able to help in such an important piece of research, let’s hope it helps lots of people in the future and gives them the peace of mind that we have been awarded.