...well, close... the paediatrician, anyway! He's the one that Jan recommended and was very pleasant, just as she said. He has told us that a paediatric consultant will check over Little D when he emerges and that they will assess what the best course of action is after that.
It seems unlikely that they will test genetically for Achondroplasia straight away. Instead, they will diagnose from what they observe of him, with a genetic appointment later on. From what he said, it seems that although there is an Achondroplasia gene, it can be caused by a number of genetic issues. So finding the A-gene will prove it definitely is Achondroplasia, but not finding it does not necessarily mean that it isn't.
We were hoping for a slightly faster diagnosis than that, but he is more concerned with dealing with the immediate issues after he's born and rightly so. He seems to think baby may not need any specialist care in the first instance, but will be referred to the appropriate medical consultants as necessary. He has also said that, unless there are any issues, Andy Jr may not need to go into the special care baby unit. They will keep an eye on him initially, but then we will be free to go!
As Clare has extra fluid, they will most likely test that all the pipework to his stomach is working correctly, just in case that is why he's not swallowing the fluid. Extra fluid is common in our circumstances, so this is a precautionary measure and unlikely to be the cause of the problem.
So, all in all, we feel we are in safe hands. We are reassured that we're not at red alert just because our son has Achondroplasia and that they feel there may not necessarily be any complications. If there are, however, we have confidence in their ability to diagnose and treat the problem.
Final Stop (well, this week): Addenbrookes on Friday!
So do not worry, saying, 'What shall we eat?' or 'What shall we drink?' or 'What shall we wear?' For the pagans run after all these things, and your heavenly Father knows that you need them. But seek first his kingdom and his righteousness, and all these things will be given to you as well. Therefore do not worry about tomorrow, for tomorrow will worry about itself. Each day has enough trouble of its own.
Matthew 6 v31 - 34
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2 comments:
Hey Andy, Claire, and AJ (ok, maybe not the nickname you want, but with having a TJ, I couldn't resist;-),
Thanks for including a link to our blog. Owen has been quite a handful these days, but very precious too!
I'm glad all sounds so good for you all. I hope Claire's not too uncomfortable with the poly. Being an L&D RN, I've had lots of women share the extra fluids misery with me. When is your ue date again? I'm praying all goes well for a smooth delivery-remind me, are they going to let Claire try to do a vaginal birth or do a c-section for head size and neck concerns common to LP babes?
Enjoying the posts! ~Renay
AJ...hmm, I like that!
Clare is due on October 10th but they are talking about inducing her at 38 weeks if he doesn't come before that. At the moment, his head's a normal size so we reckon it will be a vaginal delivery.
Thanks for reading our blog...we'll keep you posted!
Andy and Clare
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