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A support thread for the undiagnosed, hand holding through the wilds and wonders of the unknown(50 Posts)
As one year draws to a close and we get ready to welcome in a new one, it seems fitting that we're in need of a new thread to continue what has become a lovely supportive thread for those of us with children who have no clear diagnosis.
Lots of our children are SWANs which stands for Syndrome Without A Name, having multiple and sometimes complex difficulties but neurological and genetic testing is yet to find a cause.
Hoping that some us us may be blessed with some answers in the year ahead, and looking forward to sharing the good times, celebrating little achievements, helping each other to negotiate the obstacle course of testing, therapies and community support, and offering each other a shoulder and a hug when things get tough.
link to the old thread here
Hello, just thought I'd bump the thread out of the nether regions of special needs!
Having a fairly shit week here, with ds ill since Saturday with a raging temperature, febrile convulsions and now a rotten chest infection. I have a horrible feeling we are heading for the hospital in the next couple of days.
We saw a cardiologist today, who discovered that ds has a small hole in his heart, where a duct that normally closes at birth is still open. Congential defects like this are consistent with Kleefstra syndrome, and it is on the milder end of heart issues, so we are relieved and concerned at the same time. He will have a 24 hour ecg in a few weeks time to see whether there are any arrythmias present.
Next appointment is a learning disability nurse coming to assess ds tomorrow. this feels huge, and I can't quite think about it properly.
We are also in the middle of the statementing process - so it is all fun here!
How are you all? Hope you and your dcs are ok.
Great advice firsttimer thank you. I think you are right that people are taking their cues from me. I do feel a certain shift change and am more accepting of where we are now and the reality of an uncertain future.
smiles I am so sorry your DS experiences pain, that must be an added trauma for you at such a difficult time. I can only being to imagine how horrid it must feel to experience the regression and the pause in delay. It sounds like you have some wonderful moments together and he is very lucky to have you treasuring those nighttime cuddles, my poor DS could do with a bit if that I think at times! I hope you are settling in to your new home, we also moved from London a couple of months ago, like you I miss the crowds to walk and wander in, and the decent coffee shops, but I could feel the stress falling away as we got in the car and drove away. Having some space has made all the difference but it would be nice to start getting to know some people locally, am sure these things just take time.
Oops, pressed post by mistake.
I meant to add - we also have horrendous sleep issues. It makes everything feel so much worse and I really feel for you.
From what I understand, it seems quite common for children with neuro issues to have sleep problems. We are waiting on a referral to the sleep team at Evelina Childrens Hospital at Guys and Thomas's. The charity Cerebra also offer sleep advice over the phone and may be worth a try.
I used to get really frustrated at myself with the sleep issues as I felt I was contributing to 'bad habits' and that he couldn't self settle. However I have recently accepted that we are in an unusual situation and we need to just do whatever it takes to get some sleep - from rocking him in his pushchair to co-sleeping. Since we were told his condition could be progressive I have tried to make the most of the night and turn the negative into a positive even when I am so exhausted I just want to cry.
There is something special about holding him in the middle of the night when the rest of the world is asleep - its bit of extra time together that only we share.
Diagnostically, we are no closer despite numerous tests. I was obsessed by diagnosis, as DS suffers from terrible muscle spasms and pain - without a diagnosis, no one knew which medication, if any could help. Now, after a couple of trials, he is on a medication which has reduced his episodes by about 70%.
I had began to acccept that we wouldn't get a diagnosis and we less worried, as we had found a way to help his pain. However, we then saw a period of regression, meaning that progressive conditions were a concern. This makes diagnostic testing critical for us. Not nessesarily getting a diagnosis - but ruling out the more terrifying options.
We would also love to have another baby and with no clue about what condition this is, the odds of it recuring and the long term prognosis - that is out of the question.
It really is a rollercoaster. DS has made no developmental progress in 8 months. I am starting to fear that it will never happen.
Personally, I have found that keeping busy and developing as much of a network as I could really helped. We used to go to 2 NT groups per week and 2 SN groups per week. Having that structure and being around people who knew DS and his challenges was a great help.
However, we moved about 2 weeks ago and I am feeling a bit lost now. We sit on the border of 3 local authorities which is making our support services a nightmare. I am sure it will all come together, but its easy to feel isolated. We have moved from London and whilst I have no doubt that moving was the right thing to do - I miss being able to put DS in his pushchair and walk for miles with loads of people around.
Oh and tell people, your friends maybe just dont know what to say and are taking their cue from you. Talk to them, tell them whats going on in detail and ask for help and suggestions. My family are a nightmare but some friends have been so supportive.
You are right in saying I am coming out the other side - was convinced for a long time that would never happen for me but it has and life is starting to right itself somehow and that feels great.
It is a long hard slog, especially if you ave sleep trouble. Lack of sleep made me feel insane at times. Dont underestimate how hard it is to function normally with too little sleep - emotional reactions, decision making everything just goes off kilter. Get help, anyone you can think of, put your name down with charities and anyone else who can offer support and try to get sleep and rest in. I couldnt solve anything when I was so tired, I just ran in circles.
Bloody Nora, DD, am blaming the tiredness!
Your DS sounds totally adorable and I hope I am right in thinking you might be starting to come out the other side now in some way. Its funny yiu mentioon the park, i want nithing mire than to see him toddling around the park, wrapped up feim the cold with a big smile on his face, funny its the small things yiu year for.
I am sorry that your family aren't supportive, it is incredible how much people can ignore what is right in front if them. I can imagine it is hard to deal with.
I hope you've had some lovely sloppy kisses today, we are exhausted after rotten night of screaming but have realised enough is enough and I am no long going to pretend everything is normal and start seeking the real support we need. 14 months of rubbish sleep has done me in and I am throwing in the towel!
Here's to a good nights rest for us all.
I sometimes stay away from my friends with NT children because it hurts. I also realise that often people want you to reassure them 'so it is going to be ok?' etc when you just dont know. Used to make me angry nowadays I see it more as how frightened people are of the bad things that can happen without rhyme or reason and so they either try to say its cos of something you've done/neglected to do or that its just a blip because 'bad things dont happen to good people' (thats just my theory)
In terms of diagnosis its become less relevant to me as time goes on. Not sure why, partly because Im starting to understand that a diagnosis wouldnt make it easier to know how to help her (maybe with autism that would be different but we are pretty sure its not autism). Im sure in the future a diagnosis would be of practical help in terms of accessing funding and SN provision. Its also that anything that can be diagnosed from bloods etc at this age is the kind of thing you wish you didnt know existed so theres this strange thing of wanting to know what it is but knowing that any clear answer would probably be a really 'bad thing'.
Whats getting easier with our girl (35 months old, GDD) is that as she develops its getting more fun for us all as she is able to interact more. She can walk now (unsteadily) but loves walking about and we can go out and explore even when its wet now. She initiates more play (her play is the level of a 9 month old say) so theres laughing and giggling in our house whcih is wonderful. We have massive kiss and cuddle fests - drool-ly kisses is a special skill she has def perfected - I dont think NT 3 year olds really want to cuddle as much as she does. She actually enjoys her bath and plays in it, it used to be a stressy rub down at best. In the last 6 months her communication is improving and we have a better idea of what she wants even tho she doesnt point/gesture really so the screaming has eased off too. I realise now how weepy that made me. Ive found that as we start to have more of the lovely fun bits of having a child the urgency of needing an answer to solve our problems has waned. We are worried and things dont look good in terms of catching up but we are adjusting in a way I couldnt have imagined and her differentness has brought new people and priorities into our lives that feel magical at times and would not have happened otherwise.
It's such an all consuming roller coaster of emotions and practicalities. I just still can't really believe this is actually our reality and not just a little phase. I suppose it's just getting accustomed to seeing his peers transition to their next phase and not find it so eye wateringly painful. I guess its all part of the readjustment process. he has an 8 month old cousin who is starting to overtake him, god i love her to death but i am finding myself staying away as I just cant bear it. I also find it a bit odd that people, outwardly at least, don't acknowledge that even if there are no long term issues where he is at now is so far off the mark that that might be gut wrenchingly hard to deal with. But, saying that, I realised over Christmas that people maybe don't want to say what they feel, even though I am kinda feeding them the lines they don't want to agree, are they trying to protect me somehow? Maybe I've just got a rubbish set of friends! Only one, only one has recognised it must be hard.
Sorry, having a real moment of acceptance this week, I think it's because since we moved he's received no therapy and it was seeing the private PT on Tuesday that made me realise we have to start fighting his corner so much more vociferously. He is being let down hugely at the moment and I have to start battling harder.
Reading your comments genuinely gives me confidence that we will be fine and we will get used to our world, I've never been jealous before and I should be so greatful to have DS when other cant be blessed with children but I find myself looking at other people's kids and feel like we are missing out. Odd emotions.
Where are you both with diagnosis? Does the attempt to find a reason stop if the standard tests come back clear?
There's also the emotional rollercoaster to factor in. I found I was all over the place everytime someone said anything along the 'she looks so normal lines'. Partly furious at having my worries and the work of it all dismissed but also achingly hopeful. Part of me desperately wanted to be the neurotic mum just so everything would pan out fine in a year or two.
I try harder now to acknowledge how much energy this takes up. As well as realising how awfully sad I was/am, heart broken and scared and grief stricken and that it was ok not to be able to just bounce back and be all proactive about organising work and life stuff and to just need time to process it all and thats actually just a normal reaction not a sign of how incompetent I am (I tend to think its all my fault somehow)
This thread has been a real lifeline for me over the past 2 years, theres so much support on here as well as all the practical help and knowledge.
Hi Ouch. I have some understanding of how you feel - DS is 17 months and to look at him, he looks NT. It is only when people realise that he can't sit for more than a few minutes and cant crawl, or even transition from lying to sitting etc, that it is clear something is wrong. In a group environment, when I am holding him, I have to tell people for them to know that there is a problem.
As we have had issues like seizures and a movement disorder, it has made it easier for family/friends etc to accept that something is wrong. However, I still constantly get the stories of 'so and so didn't walk til he was two and hes fine, so and so had odd movements and hes fine.' Trying to explain that combination of symptoms that we have mean that DS is pretty definately going to have additional needs sometimes falls on deaf ears.
Personally, I have gone through phases with it all. I had a big stage of denial, then total heartbreak (this was when I found it very hard to be around NT children). Now I have reached a sort of acceptance and I tend to be very upfront about DS challenges around new people. I have to watch myself sometimes, as I need to remind myself that things that are now my 'normal' are still quite shocking for other people. I joined a couple of SN groups and they really helped me to find that 'normal'.
I really hope things start to feel better for you and that this thread helps you to know you are not alone!
Ouch - Its really nice to be able to share experience and not feel like you are the only one for whom everything is so oddly different. I think starting to use the terms disabled and SN was huge for me. It took me a long time to start using those words and longer to feel confident about them but these labels helps me feel legitimated and gives me a useful shorthand when dealing with people who have little understanding of whats going on with us. I did have friends who took a sharp intake of breath or even queried that 'is she really disabled' 'she looks so normal' etc.
My family are sadly convinced that Im just a drama queen which is really hard to take. Most others have fallen into line and as shes gotten older her disability has become more noticeable as her peers race ahead of us. Thats got both good and sad sides to it. Having a visible disability helps not having to explain things that you can sense people think are strange, esp when youre tired and overwrought and yet another raised eyebrow at using a buggy, taking your child into the under 12month section at soft play etc is more than you feel up to. Plus more support and SN placement options start to become available. I think the bit until 3 is a really tough bit
With work I think it must depend a lot on the culture of a field. Ive found Im lucky in that even though I was very much someone who made their rep by being on the ball, etc, my field is actually a lovely one and I remember going to a work related event when she was two - tearing up lots as I tried to tell various people why I hadnt been around much etc, and realising that they like and value me anyway - even if I am not currently up to date and firing on all cylinders. Support can come from the most unexpected places, just like you can get horribly let down by people you thought would be there for you come what may. People have offered projects, kept me in mind, and been really nice when Ive appraoched them and just asked if I could do stuff more to keep my hand (ie: non essential stuff without strict deadlines). I just keep trying to find teh friendly helpful people out there - altho often I lose my nerve and the will to keep at it.
firsttimer can't begin to thank you for your words and time to write them. It's awful to be greatful there are other people in the same position but so totally stress relieving to know there are. I sincerely hope you have been fortunate to have had someone give you some words from experience along your journey.
At the moment I am having so many experiences that are validating why I have been such a mess during his first year, the continual attempt to be normal when you have a child kicking against every every action you do. I don't know if I feel good to know its not just my poor parenting /depression/disorganisation (!) or bitter to now be recognising it has always been a differetnt journey.
It's amazing how much other people's perceptions are still part of my choice on what to do. I plucked up the courage to take DS to a SN playgroup, we needed to get out of the house, it was on and I thought it would be a refreshing change to be with mums who don't look puzzled and stop talking when you answer the perennial 'opener' "how old is he?". My SIL was horrified that I took him, "he's not SN just behind", we'll I don't know what he is but he's not fitting into the NT world so I thought I'd dip my toe somewhere else. All arbitrary anyhow as there was no-one at the SN group!
Quick question, when did friends / colleagues etc get that you weren't just being a neurotic mum and that your DD did have valid issues? (Sorry I know that's not worded well but I hope you know what I mean). I had to turn down some work as the hours would have been dreadful and I fear that my colleague would perceive me as just being clingy mum. In my line of work women who have children generally retrain if they don't go back to long hours and talking about kids is a bit of a dull subject so childcare issues are kept firmly private.
Thankful for mumsnet and this board / thread, it's pretty isolating and it's good to find people who completely completely get it.
PS: the coaching session sounds like an excellent plan. I hope it proves useful
Ouch - sounds like I was in a very similar position to you when DD was 14 months. Really struggling to understand why everyone else's lives were falling inot place and moving on but we just seemed stuck and increasingly exhausted (she slept terribly for ages). Getting some childcare just to rest and regroup really helped - altho it made me worry about money horribly. We havent had a second yet (wasnt a definate that we'd want two) but it was sad to watch other mums have their seconds and, right now, its really hard to watch those second children overtake our girl in terms of development. Its also really hard when its not immediately apparent to people why your child still takes up so much of your time. They are off doing soft play and running around stuff while we still only managed the occasional venture out for a coffee - I felt really left behind.
My tips for what they are worth are:
-Give yourself a break however you can. Whether its from expectations (your own and others), from activities with NT children or from your own child.
-Apply for DLA as soon as possible. I and a huge block around doing this but we got highest rate awarded just before christmas and the extra cash is a big help - I wish I'd done it sooner. Its also helped me realise that the are objectively good reasons why we are struggling so much and its not just down to my laziness/depressedness/disorganisation etc
-Tell people whats happening in detail - the tiredness, the extra work and worry involved, that you want to get back to work at some point but not sure how etc and see who out of friends and contacts can come up with good suggestions both workwise and lifewise. Maybe just the odd project will materialise that helps you realise the doors still open for that magical point in the future when you may again be able to walk through it. At strategic points that realisation that people dont think I am completely redundant in terms of my work filed has really helped keep me sane. I sometimes feel totally swallowed up by having a child who needs so much from me. Balancing it is really important for me at least.
Sorry such a huge essay. Take what sounds helpful to you from it. Its just I recognised so much of what I really got very down about in what you wrote that I wanted to feed back my experience from a little furtehr down the line - my DD is turning 3 soon and life really is coming together again now but it was awfully bleak for a while.
It's hard isn't it firsttimer. I have realised in the last few days that me not working really is the right thing for DS and until we can't afford to pay the bills that will have to be the case. In itself really not a big deal but I think it's just another part of life where you realise DS needs have changed everything we thought would be etc. I am still massively struggling with where we are, at 14 months he still appears NT to most people and few people spend enough time with him to really grasp that he doesn't sit up unaided let alone crawl or walk or even more worrying, doesn't play with objects in an age appropriate way. So it's kind of easy for me to want to act as other parents if NT children do and exercise choice based on a typically developing child. But knowing I can't leave the house for my old type of job forces the huge realisation that DS isn't NT and that this is having a massive impact on our lives and decisions. In theory we'd be trying for another child now but I just can't see how it wouldn't send me onto a pit of depression coping with a pregnancy, a needy immobile baby and all his therapies plus fighting the bloody system to access them.
So work, which appears to a catalyst for lots of feelings.... I feel fortunate that there are aspects of my old job that I can do at home but its hard trying to reposition myself and drum up the work, I have organised a coaching session that was offered as part of my redundancy and am hoping that will give me some inspiration for how I can diversify. I really think DS benefits from me having something outside the home and his needs. Like you I just dwell on his needs and the future if I don't have work to occupy my mind and force me to up the ante of how much to pack into a day.
In good news though DS is finally sleeping past 5am, scared to say it out loud in case he reverts but am finally having a bit of decent sleep and not putting him back to bed when most people are rising.
Auntevil - dont know anything about your ques so sorry but cant help.
Ouch - freelancing has been tough and to be honest I spent the first half of last year digesting everything going on with DD rather than getting any work done. I now do freelance interviewing on large scale surveys as the regular bit. Its something I can do flexibly weekend and evenings and I can do it with my eyes shut plus the organisation sources the work which makes it easy. So that ticks away in the background and pays for a large proportion of childcare month to month. For the rest I do something more competitive and niche. Its lucrative but scary and sometimes Im just not up to it - I need to be on the ball for it and over the last few years 'on the ball' isnt how I would describe myself! Im hoping to do more this year as we are in a better place overall. Its an area of work that I hope will still be my career long term but I found it impossible to focus on career type work on my own when we were on such a learning curve regarding DD. I do find it helps me to have another focus apart from DD, otherwise I obsess over her progress/lack of progress and get very down. Its a really hard balance so please do post about how you are organising it. Im really interested in how people combine paid work/careers with having children with SN.
More generally we had a great team around the child meeting just before christmas and the plan regarding SN placements/additional support for DD is coming together in a way I think Im really happy with. Theres still a way to go with the Ed Psych needing to do an assessment but if that chimes with my overall thinking I think we will opt for her to stay in her current MS nursery with one to one support funded from 3-5. I think we've been really lucky to have some very good NHS therapists and an ed psych who seems thoughtful, intelligent and experienced - but it has taken a lot of time and thinking to get to this point.
auntevil I am not in the UK, but gastric motility is probably Bee's #1 forefront problem (and DS has motility issues as well). I have to get Bee off the bus, but I have become a bit of an unfortunate "pro" over the last 14 years on these topics. I will be back, if you can think of any specific questions, please ask (or if you would rather ask privately, feel free to message me).
Congrats in the move smiles, hope you are settling in well. And hanbee glad you are keeping so busy, hope its a good busy?
Interesting that you freelance firsttimer. It's hard to work out what do about personal satisfaction fom work / long term career but also ensuring DS has what he needs on a day to day basis. I took redundancy just before DS to give me some flexible working options and have picked up a bit of work to do at home but its not consistent. I think we could really do with me working a bit as we currently have no OT provision and DS needs both OT and PT. We saw a private physio yesterday who was horrified at the lack of treatment he has had. We need to keep going with her until we can get the NHS to start helping properly, am going to stop fretting about getting a job and just focus on DS and trying to get some work I can do from home to help pay the bills.
Hope everyone else is ok.
Picking brains here please.
DS2 had a transit marker test for his bowel. It's part of the 3 pronged attack we have at working out why all 3 DS have problems - each has a paed working on different theories. DS2s paed is looking at muscular dystrophy.
Long story short - of 18 markers, day 5 xray shows at least 10/11 still inside, at what looks to be predominantly in the colon (not very scattered). I am no medic, so I could be wrong, but I know basic what's where anatomy.
Appointment is not for months.
Anyone been through the same? What might be next?
Just wanted to say a quick "hello and happy new year" to my chums from the old thread and "hello, welcome, look forward to getting to know you" to new posters. No real news here, we've all be well the Christmas and had a good one so doing better than last year! Will post properly when I haven't got to run out to collect DH from the train. Bye!
Oh smiles, nothing to do but keep going. Am hoping for good news for you.
Ah, found you all again! Hi to all the new people and happy new year to everyone.
Our Christmas has been a bit crazy, as after 6 months of waiting, we completed on our new house the week before Christmas - great timing! So we are now all moved to the countryside and very glad to be here. Whilst I am braced for a nightmare in getting services transfered over, we just met with our lovely key worked from the borough (we had nothing like this in London) and feeling confident that this move was the right thing to do.
To complicate our Christmas, our lovely boy went from 'he needs a muscle biopsy at some point' to 'he needs a muscle biopsy asap.' So he has an open muscle biopsy on 21st Dec. He has dealt with it fantastically and despite some nasty looking stiches up his thigh he has been a little star. We now have a hideous wait until March to see what the result are re: mitochondrial conditions. Trying not to think about it, but its tough.
All in all we are ok though and just trying to enjoy our new home. Feeling a but guilty about that lack of physio etc that I have been doing, but as DS experiences periods of regression (prompted by illness) it really is one step forward, two steps back for us. I just need a break from it. He is at the same developmental level he was nine months ago (despite having moved forwards during this time, only to go back again). Still feeling guilty though!
Hope everyone had a lovely Christmas.
Hello everyone, just checking in after the holiday season and theres a lovely new thread. Thanks Starfish. (I really need a new name on here too)
Im just glad xmas etc is over without any major dramas. DD absolutely loved staying with my H's folks who are adorable with her. Shes v v cuddly at the moment whcih makes it even better, drool-y kisses for everyone
Start of the year was a bit crap with me and DD down with nasty flu and H having a bout of MS fatigue. So the 1st was rubbish and that made me really weepy - Ive been saying to myself 'next year will be better' like a mantra and then just thought 'who am I kidding?' Need to keep hoping we get through this somehow and life will get there someday.
MissDuke really sympathise with where you are at, I found the 'is there isnt there' something wrong stage very hard. Such an emotional rollercoaster.
Ouch I find the work thing very hard, I work freelance and its hard to find the discipline for it when so much of my head and time is taken up with worry about our DD.
Hazey like your resolutions. Hope the years appts start well for you.
My resolutions for the year are to try to enjoy DD as much as possible and focus on being her mother not her therapist. Try to get back into a work frame of mind, obsessing about the home front wont help anything. Stop wasting time watching TV/DVDs and spend time on home/hobbies/relationships instead.
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