High possibility of a genetic disorder here ...

[MyOtherCarIsAPorsche]

This was part of a concluding paragraph written by a private consultant who has referred us back to NHS for a barrage of named testing, along with other recommendations.

Our grandson has absences and shaking episodes which can last more than 5 min and have resulted in an ambulance being called (5 times).

He was a 'floppy' baby - still a 'floppy' toddler. He's 2 yrs and three months old. Head control, sitting, walking - all significantly late. Did not crawl. Doesn't say any words. He appears to be in a bad mood/frustrated/aggressive for the majority of time. Occasionally, he is smiley, happy, helpful, thoughtful - an absolute joy. He is very handsome and such a chuchie little cutie. He has very disturbed sleep - can sometimes manage 2-4 hrs, but mostly 10-20 min naps throughout the night with crying in between.

Mum (single mum) is on her knees as she works (often on no sleep at all). She also has a non verbal three year old who is waiting for speech and language input and a 6 yr old who is waiting for autism assessment.

The appointment with the consultant was last Thursday - he couldn't believe that grandson was referred to a consultant 18 months ago and hasn't even had a basic blood test yet. But that is a fact. He's had three EEGs - normal, and input from a physio who suggested a helmet as he's continually falling and smashing his head on objects. He also recently had blood glucose test for 10 days - also normal.

We don't think that his nursery like him attending (my daughter's impression). They wrote a report to take to the consultant about his behaviour - they didn't have one positive thing to say about him. They are always sending him home due to absences and rashes (the consultant said that rashes are lactose intolerance - not contagious).

One test recommended is 'micro ARRAY (to include Angelman's study). Of course we've googled and we don't think it fits (it says small head - he has large head 47th centile, weight 22nd centile, height 2nd centile).

My daughter is convinced she saw a moment of recognition on the consultant's face when he attempted to examine him (of course he wasn't cooperating and we didn't really think that the consultant would be able to come to any conclusions) as though it had suddenly occurred to him that he knew the diagnosis. Unfortunately, the examination was very short due to our grandson turning into his 'whirling dervish' character.

The report mainly concludes Global Development Delay for now with other tests to be arranged and referral to a CDC clinic. We've spent years waiting for appointments for her other two children (who we still don't have answers for) but they appear to cope with life more easily than this little chap.

My daughter has been in tears since the report arrived yesterday afternoon. She's just had another sleepless night (before work this morning) and is saying she wants to go to sleep and never wake up because she can't face the future.

Where is the help? Where is the support?

I'm so worried for her and so worried for the grandchildren. I have them 3-5 days a week. I physically can't do anymore as I also have another daughter with a toddler and 4 month old twins to help/support. I see my grandchildren seven days a week - I never know what day it is when the alarm goes off. We're all very tired and emotional.

What else can I do to help?

DM can request social care assessments. A carer’s assessment for her and an assessment via the disabled children’s team for each DC. Contact have model letters on their website you can use

Home Start may be able to help too.

She should request an EHCNA for DC2&3, and depending on DC1’s needs them too. IPSEA have a model letter she can use. An EHCNA can includes assessments from e.g. SALT, OT, physio without the need to sit on the normal waiting lists.

Are they receiving DLA for at least the younger 2, potentially DC1 too? If not she should apply. The Cerebra guide is useful when completing the form.

They need a home OT assessment. That can look at making the home safer, things to help DM cope, a SafeSpace bed.

Has any of the DC had support for their sleep difficulties?

@JustKeepBuilding

Gosh - many thanks.

We will regroup and get actioning.

I believe my 6yr old granddaughter has some sort of plan in place at school with regards to her hypermobility (mum has EDS) and lack of social skills. She attends a Lego group in order to socialise and take turns. She possibly wakes during the night 3-4 times a week and creeps into mum's bed.

Three year old appears ok apart from the fact he gets frustrated that he can't communicate - he has made his own signs for hungry and thirsty and indicates yes and no with his head. He rarely wakes during the night despite the crying/screaming from the bedroom next door. He has no plans in place at nursery but we have asked for them. Speech and language service based at our LA (they held a session for Q&A at our local library) said they would go to nursery and get something in place/advise them (this was 6 months ago), but nothing has happened yet.

The consultant said he would prescribe melatonin for 2yr old and we could pick up the prescription from our GP surgery - but this isn't even mentioned on the consultant report, we got yesterday, so the GP will be unaware. I've googled this morning and it says not recommended for children under three, so I'm thinking this is why it's omitted from the report.

We didn't know you could get dla without a diagnosis. None of the grandchildren are diagnosed. Wouldn't know where to start with forms but will look at cerebra advice.

Also didn't know social care would be interested. The HV said she would get portage involved - again that was 6 months ago and we've heard nothing from them. We don't really know what portage is and how they help. We're waiting for the HV to do a 2yr check - we don't know when that will be. The last time my daughter saw the HV she said that there's no Home Start in our area anymore. I saw that they (Home Start from our nearest city) were advertising for older volunteers in our area who were interested in supporting young mothers (but that is what I'm doing).

Just been interrupted by 2yr old who is eating crayons which his siblings are using. He eats until he vomits if people continue to feed him (well meaning relatives) despite being very slight. We have to hide food from him and regulate his intake. We tend not to hide water (drinks excessively) but he wears double nappies as he leaks urine onto his clothes and furnishings if he's not changed every two hrs. He also hates dirty hands - he comes to you regularly with a wet wipe in order that you wipe away, often imaginary, dirt.

We were hopeful when the consultant suggested melatonin - but we think this isn't going to be possible until at least mid November.

Thanks again for your input.

It's like being in a nightmare maze.

You don’t need a diagnosis for DLA. You should definitely apply. I would start with DC2&3 as they will be the more straightforward applications. Although once you have everything else in place consider applying for DC1.

DC2&3 should have EHCPs so definitely apply for EHCNAs for them. If DC1 needs more support at school DM can apply for an EHCNA.

Portage provides early intervention and support to families with young DC with SEN. Do chase the referral. Unfortunately for many things you need to constantly chase.

Contact the consultant’s secretary about melatonin. It can be given to under 3s. It is considered one of the safer medications and it’s a naturally occurring hormone so in your situation it is definitely the lesser of the two evils. The situation and lack of sleep can’t go on for DC3 or DM.

Ring HV again and get portage involved.

Apply for DLA for all 3, it will help , we did the same when ds was as 2 years old and we were awarded it and my son was similar to your 2 year old.

call social services and ask for the disability team it’s not the same team. Explain the situation with all 3 children.

social services should be carrying out a child in need assessment (or something similar) on all 3 children or at least start some paperwork to show to the DLA team nursery /school to help your children access more support in nursery and school. Ask for a social worker name and who this will be.

Ask nursery to start the process for an EHCP - this is a document that will help your child access 1:1 support and show all their difficulties before they start school, it takes a year end to end to finalise this document and you’ll need a SENDO from the LA.

call the LA and ask for a SENDO for the 3 year old , and use this same terminology with nursery. A SENDO is the person In charge of the EHCP creation. They will also also have to start the process for the youngest. All your medical paperwork helps here. Keep everything.

social services can also refer to the learning disability team (LDT) - this is a team within each LA that can come round and create pecs -mini photos to help with communication, they also can refer or have people in house do an occupational therapy report and even speech therapy support which you should be able to also access.

Occupational therapy is a person that will come in and basically gives help with understanding and identifying triggers in behavior based on the lie sensory profile. The LDT can refer or do this.

Speech therapy is a person (SLT) that will help create pecs and help with strategies for the children to learn to communicate - through pecs (pictures) , signing, verbally.

You sound like a great support, I wish you were nearby so I could help with this process.

The nursery could also apply for early years inclusion funding whilst going through the EHCP process. They will definitely be able to apply for DC2. In some areas they would be able to apply for DC3 too, but in others funding begins at 3. If/when they receive DLA the nursery can apply for Disability Access Funding too.