Kyphoscoliosis, microcephaly and global development delay...

(5 Posts)
AmyRebecca Mon 10-Aug-15 19:24:01

Our daughter, Abigail, is currently 7 1/2 months old and has been "diagnosed" with the above conditions. We are really looking to speak to anyone who has been on a journey with their own children through any and/or all of the above issues and can give us some insight into their path.

Words of advice/guidance/support would be much appreciated at the moment!

OP’s posts: |
Babbafish Mon 10-Aug-15 20:03:10

Oscar is 6 and was dx with microcephaly and GDD from a young age.... He also has cerebral palsy, severe autism and sensory processing disorders .... And a condition called arthrogryposis. We have seen a geneticist who has confirmed Oscar has a genetic problem ... We just font know what it is yet!!!
Started this journey from birth really so got some experience of what you going through xxxx

AmyRebecca Mon 10-Aug-15 20:30:41

It's really lovely to hear from you! How is Oscar doing?

We're in this loop hole at the moment where doctors are willing to put names to Abi's needs but won't hedge their bets enough to give us outlines of where we might be in the future and what kind of support we are going to be looking at as time goes on. It's gone down to 1/2 appointments a week from what was an everyday specialist affair when she was even younger so at least she gets some rest now but I'd like to be more in the know of what we can do for her sad

OP’s posts: |
Babbafish Tue 11-Aug-15 10:38:00

The appointments get less as they get older ..... My advice .... Don't worry about the future ... Enjoy everyday and just remember that she is Abigail. If things were different then it wouldn't be her!!!
Oscar has an infection in his gastronomy at the moment so feeling a bit sorry for himself... Summer holidays are tough for him though ... He functions 18-24 months do totally relys on me and loves nothing more than lots of cuddles .... He's an absolute treasure !!

LadyDowagerHatt Thu 13-Aug-15 07:41:40

Hi, I can't offer any advice on the specific diagnosis for Abigail but I do have a 2 year old with developmental delays, of unknown causes. When I posted on here somebody mentioned Snowdrop, based in Devon. We haven't been yet (seeing Andrew at the end of the month) but all contact with him and Facebook posts from parents have been incredibly positive. For me it has helped to be proactively doing something for our little girl - the NHS tend to operate a bit of a 'wait and see' approach but everything a read promotes early intervention. Feel free to PM me if you want any more info.

My only advice would be to enjoy your little girl. I spent so much time worrying and googling about DD, thinking about milestones etc that I overlooked the fact that I have a beautiful, lovely sweet little girl who we are very lucky to have in our lives.

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