Fuck fuck and FUCKITYFUCKITYFUCK!!

[CouthyMowEatingBraiiiiinz]

Got 21mo DS3's Paed report done on his speech delay/regression and his allergies.

Here are a few excerpts : "disruptive" "his attention span fluctuates, if he is interested in a particular activity he can concentrate for far longer than is age appropriate but in general he is very easily distracted and generally keeps moving from one activity to another and from one part of the room to another"

"He shows eye contact and some interaction with parents but does not interact appropriately with unfamiliar faces or make eye contact. In fact he actively avoids eye contact with unfamiliar people"

"XXXX's speech is delayed; he can hardly say one or two words. This is a clear regression from his one year check with the HV"

"Height could not be measured as XXXX would not stand still"

"Schedule of growing skills could not be performed properly as he was constantly fidgety and restless and could not be engaged in any of the various activities that are part of the Schedule of growing skills"

And in summation : "Regarding XXXX's Hyperactivity, there are gross concerns. Presently he is too young for assessment regarding ADHD but this needs to be kept in mind and perhaps he will need further assessment if there are still concerns."

FUCKITYFUCKITYFUCK.

He has ASD and ADHD, doesn't he?

Isn't two out of four that are already dxd with ASD/HFA ENOUGH??!!

I so so so so so wanted to be wrong. I have never wanted to be wrong so much in my life. But I'm not wrong, am I?

I wasn't even there about the hyperactivity, hasn't told anyone medical because I knew he was too young to be assessed. We were there about the speech and the allergies.

And if it is that obvious to the Paed, who had no idea that I had those concerns, then it is bleeding obvious, isn't it?

Buggerbuggerbuggerbuggerbugger!

Plan if action?

1. Referral to CADU (Child Assessment and Development Unit) for assessment.
2. Referral to SALT - already have my first appointment despite the current 18mo waiting list (!)
3. Referral to Physio, in view of strong family history of Hypermobility, and although he is actively mobile and runs around, he can be very clumsy, as witnessed. 4) Section 332 notification has been made to Educational Psychologist 5) Blood investigations including Full Blood Count, urea electrolytes, Liver enzymes, Serum CK, Blood Glucose, Iron profile, Thyroid profile, Plasma amino acids and chromosome studies for Fragile X syndrome and Microarray. Urine will also be requested for amino acids and organic acids.
4. XXXX will be reviewed in the CADU.

Wtf is number 4? Not come across a 'section 332 notification to the EP' before. And why an EP at 21mo? Especially in an area where you can't get an EP visit for a 14yo, or a 9yo for bloody love nor money?! New one on me. Any explanations?

And as for number 5, the only one that makes sense to me is testing for Fragile X. Which will come back negative, same as DD's test for it, and DS2's test for it. Can anyone explain the reasoning behind the rest of the things they want to test his blood and pee for?

And just to hold my hand.

He had his anaphylaxis allergies fully dxd on Wed by skin prickly tests on Wed too. Then this report through the door today.

Skin prickly tests, he went into anaphylaxis. From the skin prick tests. To CMP. And Nuts. And 'moderately' reacts (I.e. bad but stops short of ana) to soy. He's so bad that the local Paed allergist is washing his hands of him after just one appointment and sending him to the Eveline in St.Thomas's in London.

Because another hospital added to the 8 I visit already every year, about 50 visits a year between 3 of us currently, was JUST what I needed, right?!

Aaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaarrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrrgggggggggggggggggggggghhhhhhhhhhhhhh!!!!!!!!!

I wanted to be fucking WRONG this time.

I am going to offer you a massive hug, we are in similar place right now- 2 dx'd, awaiting a dx (we will get one, either asd or genetic disorder) with ds4. Fucking awful, isn;t it?

Can I add genetics counselling service to the list you have? We are seeing them soon, enormously important IMO, fragile x came back clear but we did get a strange anomaly on C14 that carries a 10% risk of problems.

Have you looked at BIBIC? it's not to everyone's tastes but I loved it. The fact that he can model at all is a good sign, for the future, but in all honesty that's not much of imaginative play either: that's mimicking you, what Dh describes as physical echolalia (ds4 does it). Bibic does some funding options, so chat to them.

If you ever fancy a weekend away head over here and I will be happy to spend some time with them and come up with ideas. I can;t promise miracles but I can try.

And more hugs X

Genetics counselling looked at us after DS2's dx, but wouldn't actually DO any tests (!).

Will look into BIBIC.

And yes, 'physical echolalia' DOES describe it perfectly. It makes sense when you say it like that.

Though they ARE testing DS3's blood for Fragile X and some other genetic markets or something.

The GP said that I was a good mum (?!) and yes, it does sound like there are a lot of worrying signs of Autistic traits, and that I ought to list them as I have here and write to the Paed outlining all the reasons why I'm concerned (including mega family history).

DD and DS2 were both tested for Fragile X, came back negative, so I'm quite sure it will come back negative for DS3 too.

I think it is more likely to be a deletion on a chromosome somewhere else. Whatever it is, I think it's going to be the same thing for all of them.

They'd better bloody look PROPERLY this time. It concerns me because DD is coming up for 15, and I want to know long before there is ANY risk of her having DC's.

Have you had any contact with the centre for rare genetic diseases in Newcastle? They diagnosed our condition in one visit (84 years since it appeared in our family)

Newcastle is about 300-odd miles away from me, I'm only an hour by train if you don't count the bus at this end and tubes at the other end from London.

contacts www.bsrt.org.uk/genetics_centers.htm

Aargh. Meant genetics contacts

Ugh. Have dug out my genetic research notes from when DS2 was being looked at.

At the time, my suspicions were pinned on something to do with Chromosome 16. Either 16p11.2 duplication or 16p11.2 deletion.

And that's still what jumps out at me for DD, DS2 AND now DS3 too.

I KNOW it's genetic, FFS. But as we all have different surnames, different PCT's, slightly different presentations, and no apparent dysmorphic features, the one Geneticist we saw with DD and DS2 back in 2006 refused to test any of us.

That's when I started researching. Have dug it out now.

Even my toxic Mother who refuses all medical treatment because she doesn't want the GP to know she's an alcoholic WANTS to have genetic tests done. My Dbro has agreed too.

Even my Granddad has agreed. And DS2 & 3's Dad. Who won't even have a flu jab as he is needle phobic.

The one we saw before was some snotty woman who did outreach from GOSH at my local hospital.

I just want someone to take the genetic angle seriously tbh, and test properly.

Sending you a virtual hug. My situation is no where near as difficult as yours and I am getting 3 hours a week of direct payment support. My lovely lady comes in and helps my ds with homework, whilst I have precious time with my other two.
My transition social worker got my ds a week on a Barnados Activity break this Summer, they were fab. She also got me a carers grant which bought me 6 months gym membership as it had to be spent on me and that was one suggestion they gave me. This is all deemed respite, it really helped my stress levels, and you need it in buckets, have you explored this? Beauty with all of these things is that very little paperwork needed from me (Not like DLA god forbid) says she with two laundry baskets of paperwork to file/deal with, mostly to do with ds and no time to tackle it.

DS3 out with his dad for the day. I just had a snivel. I've had to keep it in, while he's been with me, but I needed to let it all out.

I don't know if it was sadness about the journey he faces just to do what everyone else can do, self pity that I've got to go through all the work I did with the other two again, frustration about the fact that I now have 3 DC's with Autism to try to help, or a mix of all three, that made me cry.

I just needed to get it out.

Onwards and upwards.

Just to say I recently got test results from a micro-array which showed my dcs have the same v. rare condition - ie they are the only ones on the database with it so far.

I was told that the micro array test has only been in general use for a few years so would not have been available to use when my eldest started showing symptoms. Maybe the same would be the case with your eldest?

I had to nag the head off the paed consult for 6 months and I think he finally did a test to shut me up and was stunned that I was right. Now I keep getting calls from hv etc being all 'sad' for me and so sorry etc but I feel bloody brilliant because now I am being taken seriously and they are starting to do the tests I have been asking for for ages. They all think I am a nutter for not being devastated, nobody seems to get what a relief it is to have what you knew for months and years finally confirmed. I did have the finger pointed at me last year as the cause of my youngest dc symptoms and was actually starting to doubt myself, it's like a poison. You have one disabled kid and everyone says what a good job you are doing (no matter how much you try to tell them you need more help or are struggling), you have another disabled kid and they start using words like neglect and doing parenting assessments instead of just carrying out the basic medical diagnostics they would do on a first child presentation. Before you know it you are questioning your own parenting skills and feeling like a failure.

I wish my dcs were healthy but they aren't and mostly I just get out of bed every day and deal with it as best I can. It is a huge relief to me that I can now specifically tell professionals exactly what is wrong with my kids and be strong in the belief that especially since they have never seen this condition before; I am the expert on my dc's and on what they need.

What I am trying to say is if you want genetic testing then push hard and do not quit until you get it, be fucking relentless about the facts in favour of testing and make them understand you are not going away until they have proven to you that there is no genetic issue cos Mum knows best!

Also can't remember if I already said this but our local lea has a sensory support service (peripatetic) for preschoolers, the teacher comes to your home and works one to one with the child, if you get a good teacher it can be great for the kid because they build up a good relationship and it's fun unlike physio and other cruelties. Maybe now you have the Edpsych referral you could chase that up and see if you can have sensory support?

I hope you got to have a bit of a rest today too, sleep deprivation on this level was used as an instrument of torture in guantanamo

oh also also

there is a hearing test that can be done under general anaesthetic which uses an electrical stimulation of the auditory nerve to see if there is a response. It is not dangerous and will give a straight yes or no answer regarding hearing. My dcs are profoundly deaf, this test told me. They were so good at lip reading and detecting vibration that i was certain they could hear in at least one ear or had glue ear, nope - zero response therefore totally deaf. One has cochlear implants now, amazing difference and the younger you get it done the better for learning language skills (also brain has to learn to use implant). Again because dcs had other disabilities audiology were a little reticent to do all this first time around, no hanging about next time though - two regular hearing tests with a couple of months in between then straight in for electrical stimulus under GA, referral off to cochlear implant team, surgery scheduled for three months later, total of a year start to finish so get on it and if they give you any shit spell out to the how EXTREMELY vital age 2-4 is in development of language (nuerologically speaking not another chance like it to lay down these pathways). That is not to stress you out now just to use as ammo to get things moving (pm me if you want more ammo of this ilk!). Mine would still be waiting for the hearing test if I hadn't got my tiger on, tis exhaustifying!

Onwards...

DLA help and play scheme that's probably a bit far, unless at some point (fingers crossed) rehousing puts you in a more sensible location. Homestart are often brilliant.

Barnardo's seems to have the contract for Colchester childrens's centres so they might be more useful than the county-provided ones. The family support workers are often quite good. Free independent family counselling and social work might also be worth considering as a general support, although they're not specifically disability focussed.

I also wondered if it might be worth flagging up the bigger dc as 'young carers' for your youngest, even if they're not really much help to you since he has the most clearly recognised neurological issues. Might it get some child-in-need support for them, pending their own difficulties being acknowledged?

And wrt to the genetics nonsense, the local or Evalina paediatrician will almost certainly refer you back if you ask. Or you could draw them a little family tree with concise description of each person's issues

Tried flagging up the older ones as young Carer's. nothing came of it, despite it being done by HomeStart. Who, incidentally, have decided that the support they CAN provide is not what I need, and the support I DO need is not what they are able to provide.

So that's that one done.

Local charity cancelled my DLA form appointment because the case worker's car was towed away when it broke down on her way here! So she will be here on Wed next week instead.

Took the family tree thing when I saw the geneticist (though that was in 2006). She refused to look at it, or even go any further back than me.

My Ex wasn't there, so she refused to believe that I had had a child with someone with diagnosed Autism.

My Ex attended an SEN school that had and has a specific class for DC's with Autism. But of course, I must have been wrong...

The main difference is that now I am 31, not early 20's, and I seem to be being taken FAR more seriously.

Which pisses me off.

I'm no better or worse a mum just because I'm 6 years older. They just seem to think I am.

This time, though, I WILL get answers. Because I want to have those answers if DD ever falls pregnant, or DS1 has DC's...

The Families in Focus stuff, I'm already on the mailing list for, through the older DC's. in 4 years, the ONLY thing in my whole town, and that doesn't require a train journey to get to, are the talks at the football stadium.

Which I would be able to get to. But never have childcare for. Because they are in the evening.

Which is irritating!

Rehousing won't help - I have to stay on this estate for another 8 years due to a PSO. Best not to ask...

Gorey - I think he doesn't so much have hearing loss as such, more Auditory Processing Disorder like DD and DS2.

Same issues...

Yet it's not a genetic issue. Yeah, and I'm the Queen of fucking Sheba...

Though, to be fair, DD & DS2 do have hearing loss on top. The same type of hearing loss as I have, which standard hearing aids don't help with, and they won't fork out for cochlear implants as they aren't profoundly deaf.

Been there...

I've even turned up to an ENT appointment, on the right day, at the right time, with the wrong child before, having been there so many times!

IME, the list of Consultants that DS3 will be under by his third birthday will read :

Paediatrician; Speech Therapist; Physiotherapist; Occupational Therapist; ENT; Audiologist; Peripatetic play scheme that i can't get to.; Cardiac specialist; Neurologist; and added to that, for DS3, Paeds Allergist; and Geneticist.

Multiply that by 3, and I need a PA!

Oh, I forgot the eye hospital for proprioception exercises. And the Orthotist for Piedro's. And the SN HV when they appoint one to replace the one that retired months ago.

Our hearing loss is frequency based. Low frequencies, like men's voices, are below our hearing threshold. The high pitched whine from electrical equipment (and it's a whine, not a hum that you hear, we can hear it through walls, if our neighbour turns her telly onto standby)

Standby is the work of the devil to us - it whines like chalk on a blackboard does to most people. Yet that doesn't bother us, as it's not so high up in our hearing range.

We all lip read when it comes to men! Around 1/3 of women have a voice that is still too deep for us to hear properly if we aren't facing them and lip reading.

We joke that we are all bats!

Couthy, you're doing an amazing job. And with the proper services life would be so much better. I just can't understand how you are so articulate and competent here yet despite doing all the sensible things you still haven't suceeded in getting the various professionals to take your family's needs seriously so far. I know NHS/ SS / LEA / DWP / housing schools etc are often very rubbish, but to be this ineffective for such a needy family, over so many years, that's unusual.

Perhaps your deafness/APD explains it? Could communication have been so affected that, (combined with public service inertia and the usual prejudice against young mums and families who had SS/CP input) it failed? Could the professionals all have simply missed the important stuff and focussed on the irrelevancies and minor issues? dolfrog used to post a lot about APD, saying it was a big problem in spoken interactions and sometimes written ones. Plus the 'actual deafness' too: so your poor brain only gets half the necessary info.

But having the hearing issues might open up some help avenues... scroll down for NDCS support worker Lisa Sheppard? Also Cerebra personal portfolio are worth having (one per child) if their needs are too much and too complex for professionals to take in easily.

dla guide I'm harping on about this again, cos I think with the poverty alleviated, you'd be able to get on with all the other priorities much faster. Plus then you can register the dc as disabled at the council, and then being unhelpful to them/ you becomes an equalities and access issue.

Oh yeah, and you have a right to insist on all the dc having the same consultants, and their regular appointments being timetabled together. If they give you the run-around, call the safeguarding nurse. Explain you've historically been considered a high-risk family, and chaotic services could both tip you back over the edge and make the hospital much less likely to notice