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Is anyone else starting out on the road to a diagnosis? Fancy holding hands on the bumpy path?

(1000 Posts)
hazeyjane Mon 16-May-11 22:34:45

Ds (10 months) had 2 appointments in one today, a medical assessment and developmental assessment. He was referred at 7 months to the community paeds, due to developmental delays.

We are now booked in for some blood tests next week, and some physio, and have been referred to a SALT, for portage and to a special needs playgroup.

It is all so overwhelming, on the one hand I feel so much better, after months of waiting that I am able to do something. On the other hand I feel as though everyone is still scratching their heads over ds, and I just want someone to say, 'ah well Mrs Hazeyjane, your son has -- thats why he can't do these things, (well I don't, obviously I'd rather they said, 'ds will catch up and there is no issue, now be off with you'!)

I know that this is going to be a long process, is anyone else just starting out, or a little further down the road, for handholding, venting and advice?

RumBaaBaa Mon 12-Nov-12 19:53:15

Oh x-post hazey. Sorry you got the confirmation that it looks like a seizure. I know how worrying this is. Good that you have an action plan, however scary it feels it is absolutely the right thing. Sending a big hug xx

Firsttimer7259 Mon 12-Nov-12 20:14:21

Really sorry to hear this Hazey. Scary stuff for you all. Big hug form me too x

Its lovely to hear that Orange is signing Rum

Bluebirdonmyshoulder Mon 12-Nov-12 21:46:21

Sorry hazey. Sending you a wine.

Bluebirdonmyshoulder Mon 12-Nov-12 21:46:37

Sorry hazey. Sending you a wine.

smilesintherain Tue 13-Nov-12 00:19:17

Hazey Sorry to hear this. Has a neurologist reviewed your tape? I only say this because I saw your thread you mentioned the ongoing gargled screaming during this episode. Is this usual for a seizure (I have no idea!)? My DS has a movement disorder which includes paroxysmal dystonia. This causes his body to tighten with a painful muscle spasm, sometimes only on one side. It also affects his throat, so he lets out a gargled scream. It is then followed by some involuntary movements that cause a loss of muscle tone and mouth movements. They often happen when he is just coming out of sleep eg: night wakings. It is v unusual, so not that likely and it is usually accompanied by v obvious muscle tightening (sometimes DS hands will twist backwards which is charactaristic of this). If it sounds remotely similar though, may just be worth a search on You Tube to see if a video looks similar (or I can send you one). The treatment is often neuroepileptics anyway though!

Hanbee Thank you for the info re: nurseries. I wish someone would launch a website pr write a book about navaigating the system when you have a child with additional needs!

hazeyjane Mon 19-Nov-12 13:10:08

Hello, hope everyone is ok.

We are pootling along, trying to ignore the seizure thing until one bites us on the bum. Actually that is not true, I am going to talk to ds's gp tomorrow about it, i trust her and it will be good to talk to her about whether to just go with the epilim or not. Rum how is ds on the epilim? Have you noticed any side effects? I think my gp's worry was that it would in some way slow ds down, and make him dopey, IYSWIM.

Have just got off the phone from the genetics nurse where I ended up turning into shrill woman on the verge of tears, all I was asking for was a letter that explained the study, and ds's involvement in it, so that i could pass it on to ds's therapist, and use it in the statementing process, which starts in January. Anyway she is calling back tomorrow to read out the draft letter for my approval, so obviously shrill gets results!

I was wondering the other day, where everyones dc's are at? Sitting? Walking etc, what they enjoy.

Ds has got pretty good at climbing up stuff (bookcases for example!), but not getting down again, he can crawl up the stairs, but can't get back again. He loves a good dance to Strictly Come Dancing, its a stompy, hand clappy, turn and fall over dance - it is fab-u-lous! He has just started enjoying baths, will sit down and play (which he has never done before). He still has no words, and only makes an,'uh' sound for everything. But he has started to do very occasional signs - more, pig, cake, hat. He follows very simple instructions ('go and get daddy', 'fetch the ball') but is not so great at pointing to things in books (much to the annoyance of his SALT). He still eats most things with his fingers, and will only eat about 5 foods. His portage worker said he has great fine motor skills, and one of his favourite things is a big piece of paper and a felt pen, to scribble with, he usually ends up with full body art too, but as a former art student, i love that he enjoys drawing so much!

Hope everyone is having a great day

RumBaaBaa Tue 20-Nov-12 20:33:27

How did your chat go with your gp today hazey? I had the same worry about Orange on the Epilim, I thought it would take his personality away and leave him very passive, but it hasn't worked out like that so far. When he first started taking it, there were a few days of adjustment, when he was a bit sleepier and less 'involved' in play, less communicative etc, and every time we upped the dose the same thing would happen, but then he'd return to his usual old self pretty quick.

Was the letter from the genetics nurse ok in the end? Well done for putting your foot down. Sometimes it's necessary and I find it so hard as it's not really in my nature. Needs must.

Lovely to hear about your DS's progress. Sounds like his communication skills are really coming on. We've had some lovely progress here too of late, with learning a couple of signs and just being a lot more vocal, albeit wordless. I feel like we're going a bit backwards with gross motor skills, and standing still with everything else. Sitting is still very wobbly and floppy, standing he HATES and I really have to force myself to put him in his gaiters and boots every day. But he sat properly in a high chair in a restaurant on Sunday, something we very rarely do with him as he gets tired and slumps, but he coped amazingly and really enjoyed sitting up at the table with us. Made me smile.

Smiles it's funny you mention it, I have been putting together an outline for just such a book. Not sure if it will go anywhere, but will give it a go...

Hope your DS2's kidney scan result was ok hanbee, and the special school visit xx

Firsttimer7259 Wed 21-Nov-12 12:43:12

Good you will get some written info Hazey - proper info for parents seems to drop to the back of every busy NHS persons to do list. Wondering if you GP was able to help on the epilim.

Be interested in the book idea - altho it'd be tricky to find something unifying to say when practice across the UK is so variable and subject to change. Have you thought of ways in which you could do something more overarching Rum/Smiles?

In terms of our progress we (or really I) managed the pead appt without breakdown. I am getting better at these altho I do still find it incredibly draining to ahve these check ins and realised the extent of the delays etc.

We also just ahd long assesment with EP using the Vineland II Adaptive Behaviour Assessment Scales. She struck me as intelligent and thoughtful as well as experienced and was straight about resource constraints which I actually find more helpful that being given meaningless assurances about how everything is being done blah blah. We got some reinforcement about some of our parenting which was reassuring.

Our girl is making progress. Her play is extending and shes playing with one toy for up to 15 mins which is lovely. Shes also starting to join circle time at nursery for 5-10 mins sometimes even joining the clapping. Shes initiating games a bit and lots of cheeky fun. The words have disappeared again. I find this so strange and so frustrating. She says something a few times then it disappears, we try so hard to use them a lot ect but..it just goes again. We are pressing on with using photos as picture signifiers but it still seems a little random and Im not sure whether shes really using them or not.
In terms of gross motor shes plateaued a bit, walking really well now but still guarding with her arms, wont do holding hand or following us. No steps either. But she was dancing to some italian reggae in a cafe the other day - girls got rhythm! Her socialising is amazing - she's constantly off making contact with people, charming them with her smiles, trying to make friends with other children. I am in awe if her social skills at times.

Weve got rid of all our additional therapists. Its been a useful experience but we have not found something we think is worth continuing with. The functional learning stuff caused D a lot of distress and made her defensive and rebellious. The therapist was pretty hardline about 'working through' that (a bit like breaking a horse!). The longer since we did it the more convinced I am that upsetting D about what she cant do in this way was not a good thing to do. We use the techniques as opportunities arise but no more forcing. The ABA we did was helpful in terms of some of the techniques but the tutor just had a style more suited to a child who was disinterested rather than someone like DD who was interested but need ages to respond. So huge amount of animation and more and more stuff and our poor girl totally bewildered. When I tried to address this they got all huffy so good riddance in my book.

Goodness, epic post. I guess I do need to offload, theres been a lot happening and it all feels complex with big decisions looming about pre-school. I hope you are all OK

hanbee Sat 24-Nov-12 21:14:08

Evening all,

Sorry for my long absence, its been very busy here.

Hazey hope your professionals are being helpful and that you've now received your letter. How did the GP chat go?

We've had lots going on: DS1 - school visits (all going well but not totally convinced we've seen THE ONE yet!), Audiology - no hearing problems but does have intermittent glue ear which is probably not helping his listening and language learning. DS2 had another kidney scan and appointment with the paed Urologist, all well - no change in his kidney but not worsening so now only one appointment a year which is goo as he now has to see a dermatologist about a rash on his face that won't respond to any treatment. Honestly I feel like I must have purchased at least one space at Derriford hospital with the amount I've pain in!

Rum (find that weird to type, you'll always be Mavis to me!!!!) very interested in your idea for a book.

Hazey in terms of development DS1 (age 4): Gross motor - he has been walking over 2 years now but still can't run, His feet turn in, he's unsteady and trips over things however he can speed up when he feels like it. He has some irritating behaviours when walking like going rigid and trying to fall backwards, mostly when you're holding his hand and trying to speed up - he thinks it hilarious! He can jump unsupported, briefly rise on tip toe and walk upstairs and downstairs holding on with both hands. He hates coming down and its a battle/tantrum every time, I initially taught him to bump down on his bottom as he wouldn't come down unless I carried him.

He now joins 2 or 3 signs together at times and is really enjoying learning more sounds, currently he loves imitating animal noises and even copies the crows we see over the house. Weekly speech therapy at the CDC has made a massive difference. Staff even commented that he's flying through his hierarchy of straws (to help lip closure and tone) - he's very motivated by food. He loves blowing bubbles and has added bubvu/bubbuh (bubble) to his list of words recently. This week he also made a 'p' sound as well as a sign when I asked him to say please. A year ago I was wondering if he would ever talk but it seems now to be very slowly coming. He is now being given augmentative communication aids at CDC though.

He's very social but gets frustrated easily which sometimes leads to hair pulling. He also now has sensory therapy every morning that he attends CDC which he LOVES!

Hope that essay is interesting/useful x

Firsttimer7259 Mon 26-Nov-12 15:17:50

Another SN nursery visit. Tick. Feeling a bit deflated suddenly just not sure about it suddenly...cant quite believe its the right place for DD. Not sure if its denial or decent gut instinct. Kids more varied in ability than last school but ... I dont know she loves her MS nursery. Staff there love her, children know and like her. They have been so enthusiastic about her. She learns so much from the ither children Im not sure of the benefits of losing that. There would be gains - the structured communication environment could do great things and they'd have lots of expertise but somehow its not chiming with me. I guess I sort of hope it is overkill. Long time to go before decisions need making but nothing is ever easy....sigh

hanbee Mon 26-Nov-12 19:58:20

Firstimer can you not do a two setting placement? DS1 attends his SN nursery and so gets all the advantages of weekly speech therapy etc. and does a morning (will be a full day after Christmas) at his mainstream nursery - best of both worlds!

smilesintherain Tue 27-Nov-12 15:02:03

Hope everyone is well. Having a not so great week here - DS's head circumference has now fallen completely off the chart (below 0.4 centile). He was born on the 50th centile & it started to drop at about 5 months old.

Just wish we could hurry up and get our next set of tests done - they are all conditions that I really want ruled out.

On the upside, we have managed to get a lot of his muscle pain under control with the right medication, so I am thrilled about that.

My hopes that he will one day 'catch up' just seem to fade more and more each day at the moment....perhaps I was always being a bit deluded. I guess it just came as a shock, as we had normal development until 6 months and then it was one thing after another.

I just hope we can get some kind of a diagnosis and some indication of prognosis. I know it sounds a bit defeatist (and it isn't how I mean it), but it would really affect what I do with him. We do a lot of physio, OT, SALT exercises at home at the moment, as I feel like we have this potential window to improve things for him....he hates it. If we knew a prognosis it would make such a difference. For example, if we knew it was a condition where one area of development would be unlikely to improve significantly, we would go slower and easier in that area. We do lots of fun things as well, but I do feel a bit mean sometimes. Not many 15 month olds spend half their morning in positions that they really don't want to be in.

Urgh..right, going to get a large caffinated beverage (he STILL doesn't sleep) and stop staring at his head....it won't make it grow.

Firsttimer7259 Wed 28-Nov-12 15:51:11

Thanks for the suggestion hanbee. Only issue is the SN nursery opens Mon to Thurs only and to split a place it needs to be a half place so they can give another child a decent slot. I guess that'd be 2 days SN, 3 MS...Still I am a little reticent about the SN place - but cant put my finger on why. Theres a long bus ride Id be a bit concerned about...I dunno.

Hi Smiles, sorry you are feeling at sea. Maybe you can mention his dislike of partic things to the therapists and see what thy say? We hvae dropped bits of (private) therapy in the past because DD hated it. It was a good decision (but it was also kinda flakey stuff unlike physio for example). For myself I have found it worthwhile to decide against 'work' with DD in order to enjoy her more. I had a period where I just felt ground down by therapy stuff and it did us all good to let it go a bit. I felt like I was sitting there internally screaming at her say/do 'xx' goddammit, how many more hundred times do we need to do this before you bloody well say/do 'xx' and that she could pick up on my frustration in a way that wasnt healthy for either of us. You need to look after yourself too.

hanbee Wed 28-Nov-12 17:55:03

That's really good advice firstimer. I too spent a lot of time trying to help DS1 develop. I know it did help a bit but it definitely also burnt me out, physically and emotionally.

hazeyjane Thu 13-Dec-12 12:02:25

Hello

How is everyone doing? Any more appointments, tests, nursery/school visits?

I am going stir crazy with a very poorly dd2, she has lurched from chronic constipation, urine infection and dehydration and now is recovering from an asthma attack, on steroids and looking like a ghost. I feel like we have been stuck in the house for 2 weeks, and we are all climbing the walls!!

ds is on a bit of a down at the moment, lots of head banging and frustration, and just not wanting to participate in much, the last couple of portage sessions have been a washout, with ds just screeching, and throwing toys of the table, then banging his head on the table. I have to fill out a form for the learning disability team, wrt getting some advice and support from the learning disability nurses, and his SALT started talking about social communication disorders.grim.

Our gp was talking about respite, and I think we would be eligible, but it would be useless, as with ds's separation anxiety i woudn't be able to leave the room anyway!

On the upside, it is so much nicer buying Christmas presents for ds this year, as he actually has things he is interested in - Fireman Sam, Curious George and Totoro - so far he has a Fireman Sam helmet, a Fireman Sam cuddly talking doll, a Curious George sounds book and a Totoro poster for his room. Last year it was all Makaton dvds and books.

Hope everyone is oksmile

StillinMyPJs Thu 13-Dec-12 13:06:25

Hi there. I haven't had much time to update recently, but I've been lurking a bit.

Our twins arrived 6 months ago and are doing well. Unfortunately they both have the same metabolic problem that DS1 has. Gutted is an understatement, but I'm working through it. I really never even thought that this was a possibility. Scientists are now really very interested in us as all three children are affected. We have been picked up for a study into the group of disorders and have all had our DNA taken to be tested. They know of 10 or so genes that can cause this problem and so we may get an answer. Whether it will mean anything is a different story.

DS is doing really well, considering the changes in his life. I was expecting some regression, but his speech and motor skills have steadily improved since the twins arrived. Unfortunately he will not amuse himself anymore and so when I am feeding or even holding one of the babies he is still very jealous and the only way he knows to communicate this is by crying. It gets a bit wearing after a couple of hours. Fortunately he does go to a SN nursery twice a week.

In the new year I have some in home help starting. I really need it as I really am Still in My PJs at 4pm sometimes and I do need to make sure that I do everything to maximise the twins' development. At least we are starting early. DS did not get early intervention until he was 12 months old.

Hope you all have a good Christmas, I'll probably see you on the new thread, if there is one!

hazeyjane Thu 13-Dec-12 15:49:11

Wow, StillinMyPJs (I would live in my pjs if I were you!), that sounds very full on. Do you have any timescale on the study? Dh and I have just sent of blood samples to be included in the study that ds is involved in, it will be interesting to see if there is anything that comes up.

Do the twins have support in place already, with regards to things like portage, or will this come as they get older?

I know that the thread has been very quiet lately, but I can't tell you how much help it has been to me, far more than I ever thought when I started it 19 months ago. It has been great to have a hand hold on what is still quite a bumpy road. I don't know about the wording of the title, but I think it would be quite nice to try and start another thread when this one gets full, especially if new people that are starting out on the road feel like they could do with some support.

feelinchirpier Fri 14-Dec-12 10:14:52

Hello! I have been watching this thread for some time but kind of felt that I didn't 'qualify' to be on here (everyone else's circumstances seem so much more extreme than mine). So just tell me to cart off if my names not down smile.

My Ds is 7 we are due to go for the final stage of his assessment for ASD on monday (parents interview) he has been observed in school and has also had the play based observation some weeks ago, after the play based observation we were told he had done really well and that they would not need to see Ds again.....This has triggered even more mixed feelings than I already had. Is that because all is well??, Does it mean they have seen all of the signs??...I feel a lot more relaxed than I did 10 months ago but this final wait is doing me no good I am up then I'm down, I think ner it was all just rubbish (school approached me about Ds's difficulties), then yes he has ASD, then no its my fault.

I have now hit a point that I give up with my Dh he is about as much use as a chocolate fireguard, and if I speak to anyone else in the family I feel as though they are thinking oh here we go again DS DS DS. I feel sick to the stomach that I need to go through all the things which a few years ago I never would of mentioned but had always stayed there in the back of my mind eg DS couldn't jump until he was 4 we actually brought him a trampoline because he was trying so hard and this is when he finally cracked it, A few months back I filled out a ASOS form (think that was what it was called- for Dc's 3 year development check) for my Dd when doing so I cast my mind back to my Ds at that age and I don't remember filling one in but there were so many things on there that I know for a fact he wasn't doing at that age, I will then need to explain that it was never flagged at his 3 yr development check because I didn't take him for it (I was working) my Dh took him and he probably would of told the HV that Ds was amazing at everything he was asked because at the end of the day he was not there if its not about him he hasn't got a clue.

Just feel as though due to the circumstances ( everything being brought to my attention) that I will look like a fraud IYSWIM, that I have kind of changed things, after all my Ds's records will show that all was well up until the first whispers of ASD. Just wanted to share that really, sorry if it sounds waffly I'm very good at that. In a way I think that through all of this, if my Dd had not come along I don't think I would of seen just how different my Ds was when younger, he was my first Dc and I just thought that's how it should be.

Sorry if I have taken over purely to talk about myself but I don't know who else to speak to really.

Firsttimer7259 Fri 14-Dec-12 10:32:54

Sorry to have been quiet for a while. I've been looking at SN nurseries in our area and its been an involving process. Everything has pros and cons and I havent had the immediate sense of 'yes this is a good place for her' from any of them. Am seriously considering leaving her at her current MS nursery and applying for additional funding.
Im really sorry PJs things sound v tough for you just now. Hi and welcome to feeling chirpier its a shame you cant get anyone to be more supportive, it made me feel really crazy when DD was still v young and my H would gte all 'whats your problem' when Id point out things that were starting to worry me. Just clear things up as best you can - there is little point worrying what other people will make of you.
Am dreading christmas, last year was so unbelieveably awful. I know we arent seeing my side of the family this year but I dont think I could cope if anything similar happened on the other end. I find the sense that my family just think I am a massive drama queen about DD so hurtful and so incredibly selfish of them I can barely deal with the anger I feel just thinking about it. Hoping for a peaceful, quiet one this year...

feelinchirpier Fri 14-Dec-12 11:29:50

Hello firsttimer, thank you smile. I must admit I dread christmas days myself it is 'tradition' to go to the inlaws for christmas day or rather if I want to have christmas at home everyone gets upset inc Dh yet his sister can choose to go to her inlaws every other year..grrrr.

I will have the fun of watching my Ds slowly getting overloaded by the constant bombarding of different questions/conversations from all the family members in the room, watch him go into his shell then listen to everyone huff and puff because he is being ignorant. Just like every year I will make a mental note as to how many times my Ds is quickly jumped on reminded to use his manners (gritting my teeth) even though he hasn't had chance to use them in the first place. Then get frowned upon because I dare suggest Ds and myself go for a walk in the woods alone (aka giving us both a break).

In all honesty my MIL is really supportive as she has been reading up about ASD when I first mentioned it to her but also thinks Dh worships the ground I walk on so would bend over backwards for me and our Dc hmm, so there are some things that are best left unsaid.

StillinMyPJs Sun 16-Dec-12 13:28:53

feelinchirpier Welcome. My DH went through a long period of denial which I found quite challenging. I think as he never really got to see 'typically developing' children frequently, he didn't realise quite how far behind ds was.

In a way I'm glad that we live half a world away from family as this Christmas would just be two difficult. My extended and close family have had a bit of a baby boom this year and it would hurt too much to see where the twins are compared to these other babies born within a few weeks of them.

hazeyjane The study could take 3 months or more. As the study is overseas, we have all sent blood to make the shipping easier and cheaper.

The good news with this, if you can call it that, is that I know what we are dealing with. I have done Dr Google to death, know what help I need and where to get it and have not dragged my feet due to denial. We have Early Intervention over here and the twins are on the list already. As we know that they definitely have the same thing as ds, we have managed to get carer allowance sorted already and I have got them seen by ds's old private physio.

We'll have to think of a name for the new thread!

Hello everybody, Mavis/Crazycat/Rum here. Have had enough fun name changing for a while so Starfish it is. I am not a sci-fi fan though grin.

PJs, gosh, what a lot for you to take in. Great that the twins are getting in on the early intervention thing from the get go. That's one of the trickiest things about being undiagnosed I think... not knowing what your DC needs or how to access it, but second time around you'll have that sussed, even if it is a huge amount of work for you.

On the subject of respite, have any of you contacted your social care teams for an assessment of needs, either for your DC, yourself as a carer, or both? We've just done this, and will be qualifying for 8 hours a week via Direct Payments, so we are now trying to recruit what they call a personal assistant, to come and help us with whatever we need. In the meantime, we have been allocated two wonderful ladies who are Disabled Children's Support Workers. They come to the house two mornings a week and do DS's therapies with him, so I can get on with other stuff. At the moment I'm using the time to catch up on post-move admin - boring stuff like filing and organising, but it's great as I don't have the guilt of DS just lying there while I get on with stuff. I always feel huge guilt if I'm not interacting with him in some way or doing his therapies.

hazey I just wondered if you might have anything similar in your area. I know it's hard to leave your DS but just having someone else come to the home regularly to take over the burden of doing the physio etc is such a weight off the shoulders. Even if I'm just sitting in the room with them doing paperwork.

We all have colds here. Trying to be Christmassy though! Oooh, just noticed we need a new thread smile

hanbee Mon 17-Dec-12 21:52:28

Hi all,

Just stopped by to wish you all a merry Christmas. Although reading the last few posts maybe I'll wish you all a relaxing one instead?

Sorry to hear about dreadful family support. My inlaws and DH were very dismissive and sometimes quite angry when I initially was concerned about DS1. I felt terribly alone and unsupported but realise now they were just trying to protect themselves, they didn't want to believe something was wrong. Now I am very lucky to have extremely supportive family. My Mum particularly spends loads of time with my boys and my MiL dotes on DS1. Hopefully as time goes one your families will become more accepting and you may even be able to tell them how their reaction impacted upon you, I have done so (not in a narky way) - but then I can be a gobby cow who doesn't know when to zip it!

PJs - wow, all 3 with the same condition? I feel for you. I too did not consider what might come about when I became pregnant with DS2, I'd been reassured by "professionals" that DS1 was just a late developer and so got pregnant again without any concern. Only when DS2 was born did I become frightened about it. Fortunately he seems to be developing well (he never shuts up or sits down so normal 2 year old territory) but I can really feel for you as I had dark, dark moments when I thought I was going down that path. You sound organised and on top of it all though, and you can be a supermum no matter what attire you face the day in (well that's what I tell myself when I leave the house covered in snotty dribble)...

New thread titles, hmmm.... Definitely need to keep something about non diagnosis yet or undiagnosed in it. I like the hand holding bit too.

Firsttimer7259 Wed 19-Dec-12 21:05:00

We got DLA, at the highest rate, can hardly believe it. Its beginning to look a lot like christmas!! tra la la la la smile

Starfish - brill news about the support workers. We've just got a small NGO send us a volunteer who plays w D for 2 hours a week while I clean and do me taxes. Shes lovely and its so nice to have her playing with someone rather than contained somewhere.

We are off for xmas tomorrow so just wanted to wish you all a good one. See you on trhe other side...
x

Well done Firsttimer, those DLA forms are a bugger.

Have started a new thread for us here

Merry Christmas everyone, see you on the new thread smile

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