For those of you who crave understanding more about chromosomal conditions (come on, you know you want to!) please see the link below - it's an interesting read :-)
It highlights the many types of genetic conditions, which include trisomies, mosaics, partials, duplications, deletions, rings and so on. I remember one of the doctors at Starship saying to us that individually Nate was incredibly rare (being one of only 110 known cases), but collectively that he was one of thousands, because of the many different types of genetic complications that can arise across the 23pairs of chromosomes. And with the recent advances in testing, it's amazing how many more are being diagnosed (albeit still rare on a world population scale). Fascinating stuff. And coming from a non-science-y person, that's saying something!
It also highlights how little is known about these rare conditions, and how what little research there is, is mostly on the medical front. There has been even less around the developmental potential, and how where there is, it often reflects extreme cases, or is questionably researched / summarised / referenced. Given this, it suggests that actually practitioners should err more on the side of positivity and optimism when breaking the news of a diagnosis to parents - after all who is to say what is possible and what is not - at either a rare genetic level, or at an individual child level? And it encourages practitioners to collate case studies that will help give more context and understanding in the future.
There is something to be said for that we think - although on the flip side, the shock diagnosis, it's delivery, and the lack of concrete information or future expectation, really did prompt us to really come to grips with the condition and seek out all information and opportunities that we could. Ultimately we think that has benefited Nate - we have started early intervention EARLY, and we are seeing the developmental benefits of this everyday :-).
So in essence this blog is our case study contribution. And speaking of which, here are some shots of Nate 'working out' at his various playgroups, therapy sessions and at home over the past week.....he's looking good, working hard on his crawling, standing, and supported walking :-)
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| Local Area Playgroup |
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| Hanging out with Ildi at Conductive |
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