Help looking for diagnosis

[user1499815872]

My son is 16 months old and he has been diagnosed with global developmental delay, nystagmus, Arnold Chiari Malformation type 1 and hydrocephalus. He is under a lot of different professionals for each aspect one being genetics. He has had his chromosomes checked which has came back clear we are now set to join the 100,000 genomes project as they believe he has a condition linked to his genes. If anyone has a child or knows of anyone who can relate to any of this that has had a diagnosis I would love to here from you as we have been told that we may not hear back for over a year which right now I feel isn't good enough as we do not know what support to be giving him. Physiotherapist have said they are unsure on what to offer as they don't want to do more harm than good.

[hendricksyousay]

Do you know about Swan ? There are loads more of us without a diagnosis . Genetics is such a new science that you may never get one .: focus on your child and trying to get the help in place for playgroup and School Instead as it will require a lot of focus and strength to do that .

[user1499815872]

No i have not heard of swan. It's hard at the moment as I have worked in the nursery's in the neighbourhood and have seen how the children are not given much attention therefore am not willing to put him in to one as I do believe due to him not running round and being able to pick toys up and play like most 16 month olds he would be neglected whilst the staff run round after others. I know that I can give him my full attention and care every day and can do this at home and play groups as I have left my job to do so

[hendricksyousay]

Swan is a charity ( syndrome without a name ) there are thousands of us so you are not alone .
My son went to the nursery at the nearest special needs School who were better equipped to help him as he didn't walk until he was 3.

[hendricksyousay]

You need to start working on getting him an EHCp so that he can have extra support and funding when he is at nursery or school.
Don't settle for the local one though , look around , visit different placements . My son has been in mainstream school for 3 years but next September I've secured him a place at a more suitable school to meet his needs . Unfortunately it's 20 mikes away . We can't move because of our other child but transport is available if we want it .
Please get some support and help , it is out there .

[dimples76]

Does your son have a portage worker? I found them invaluable in promoting the development of my GDD son, referring us to Ed Psych etc. I would recommend Portage/special needs groups/SWAN meet ups. It does help not to feel so alone. It seems unlikely that my boy will ever get a diagnosis - I think it's more important to focus on what their needs are and how their development can best be promoted.