To just be so sad I can't get help for DS.

[TheJudgeandJury]

DS is 2 and in march was diagnosed with a rare genetic disorder.

Before this diagnosis we took him to the doctors at 16 months due to him not making any progress with walking, he was seen at 22 months referred to physio and at 23 months was refused physio as they did a video call and said he's fine and he will walk. That was in December and DS still isn't walking.

After his diagnosis he was referred to physiotherapy again, speech and language and occupational health.

Just got a letter from occupational health who are refusing his referral and it doesn't say why?

Am I struggling to get for DS because he's so young? His disorder cause developmental delay, intellectual disability and features of autism spectrum disorder.

I'm too poor to pay for private I'm literally praying DLA comes through so we can buy him a specialist pram as he's the size of a five year old and weighs a ton just so we can get him to the appointments we actually have and are able to leave the house.

I can't afford private, I'm just letting him down so badly and I don't know what to do.

Have you tried PALs re the OT appointment?

I absolutely get how frustrating it is. My ds also has a rare genetic disorder and was referred over from paeds to adult last year.

Except no one will agree to take on his care and pass us from one consultant to the next.

I'm speaking to Gp tomorrow to see if they can help.

I feel so upset for you reading this. How unbelievably awful.

I think in your situation I would be calling OT and asking why they have refused the referral. And maybe going back to the specialist who diagnosed him to ask what the options are going forward.

I'm sorry you're going through this. You're being a great mum advocating for your boy.

Hi I am sorry about your situation.
One post of special need section
And 2 whar is the name disorder and look for charities that can help

There's a couple of rare disorder charities
https://www.undiagnosed.org.uk/

The OT referral may have been filled in incorrectly or not enough detail as to why referring to OT

There's a couple of rare disorder charities
https://www.undiagnosed.org.uk/

The OT referral may have been filled in incorrectly or not enough detail as to why referring to OT

The geneticist waiting list is over a year long so we won't be able to discuss his condition and his needs for a little while.

I know the NHS is on its ass but it's just hard and frustrating when you're trying to help and get pushed back all the time.

I've joined unique and I've looked at other charities but there's not much information on his condition - it's distal 16p11.2 microdeletion.

I must admit only posted on as more traffic as SN doesn't get much sadly.

I've just got the letter today about OT. I went back to the ped but do I need to contact PALS?

Are there any charities for his specific condition. My dc has a physical disability and a charity is a great source of info and support they have meet ups and a facebook group for parents.

Can you try your HV for help with getting a McLaren buggy? They might need to go back to OT but if referral specifies a buggy if may be accepted

Have a look at the Contact website and ask for a copy of their guide to services https://contact.org.uk/
I am involved in a charity for a rare epilepsy and we have a few children with that deletion - there is definitely a FB group. Lots of charities offer grants for equipment and for private therapy.
Look at your local authority website for the local offer to find out what is available for children in your area - we went to a group at the children’s centre and one run by parent-carer charity that will give you some support, help with finding local services and may offer things like forest school, sensory room, music therapy.
I’ll post a link to our YouTube channel which has loads of physio videos to help you work on skills at home.
NHS provision is really stretched and underfunded but help us out there - just you have to go searching…..

https://m.youtube.com/channel/UClKte2EIdQSuZEkgG2QXRDQ

Your local council should have SEND service that will provide advice and signpost to support.

FB group with 2k members.

@Patchworksack thank you. I am part of that group and many others haha I joined as many as I could.

I'm a member of unique too.

I'll have a good google round

This website lists charities that offer grants - if you are eligible for family fund they might well provide your pushchair. https://www.disability-grants.org/family-fund.html

Hello op. My dd didnt stand up let alone walk until she was 2 years and 7 months. She was and is huge for her age. I used a baby jogger city mini. It’s easy to fold and took her weight. A really great pram and not expensive about £300 new. The rigmarole of tests and appointments is really tiring. The wait for services, the slowness of it all. I do feel your pain. In my experience with my daughter things aren’t taken that seriously until kids are three due to the ability of the child to make rapid progress.

Try and get a referral to wheelchair services at your local mobility centre. They provide the maclaren disability pushchairs for children too big for a normal buggy in our area.

I make a lot of referrals for young children and things are really tough at the moment. Long waiting lists and a lot of services seem to have had to tighten their acceptance criteria too. Are you in touch with any services? Health visitor or portage worker?

If you Google the 'local offer' for your area you should be able to see some of the services that are available locally. And as a pp said your local councils send service should have information and support too.

Have you heard of the family fund? You might be able to apply for a grant through this to help with the costs of a specialist buggy. Or there are some organisations here that might help if you meet their criteria www.themobilityaidscentre.co.uk/funding-sources-for-childrens-mobility-equipment/

Is there symptoms he has that caused them to test his genetics in the first place.

You don't need to share anything you don't want to but I'm wondering if - for example - any of those symptoms are something only an OT can assess and support? Because that would be your angle to ask why the refused referral.

You can call them up yourself and ask for reconsideration. I did that with all ds refused referrals and then all went through eventually!

PALS can contact OT on your behalf to understand what has happened.

Depending on the hospital they may or may not be helpful. My care is under two hospitals and I had to contact PALS for both earlier in the year. One was really helpful and one wasn't. I'd say it's always worth asking them if there is something that you need to know.

Have you been referred to Community Paediatrics? My DD has complex needs and Community Paeds have been brilliant at identifying supports and services, they hold all of her information in one place and have supported referrals to SALT and OT along with other health and social care supports. They’ve also been able to identify any gaps that I wouldn’t have been aware of and referred to appropriate specialists. They have more time to do fuller assessments and because they have a comprehensive understanding of all of her conditions they can help me advocate for her more effectively and also calm some of my concerns.

Hi everyone,

Thanks for commenting.

The paediatrician was actually the problem and he wasn't doing the referrals properly. We're going to see how our next appointment goes and if I'm not happy I'm going to request someone else as it's been a bit of a struggle with him.

We are a bit further on now. We have speech and language, the physiotherapist has arranged everything for us so we're just waiting for a buggy/wheelchair and walker and nursery has a specialist inclusion teacher involved and is trying to sort a ECHP so we're a lot further on then we were.

Thank you for all the advice.

That's great news! - apart from the bit about the paediatrician. For fucks sake do your job, small children are relying it! Well done for chasing it up and not giving up, it's easy to feel defeated.