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

[hazeyjane]

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?

Am thihnking of you today hazey - hope the MRI is not too bad.

Thankyou

Ds had his MRI scan yesterday, he was a star, having not eaten or drunk since 6 the previous evening, he didn't cry or fuss at all. He was 2nd on the list so although we were at the hospital at 7.30, he went in at 10.30. Holding him whilst they gave him gas (they couldn't find any veins - he has a lot of chubble!) was horrible, feeling the fight go out of his little body, and I was overwhelmed with sobbing when he was wheeled off. Unfortunately he came round before they let us into recovery, so he was beside himself by the time we got there. But it was all fine, and I am so glad it is over.

Used2bethin, I guess they are casting the net wide, as they are with ds, because they don't fit into a particular box. The neurologist we saw, signed ds off, as he said he didn't think his issues were neurological, but he would look at the MRI scan and reassess as necessary. I'm glad the blood tests went well. It must be scary having to deal with epilepsy as well, when did dd start showing signs of epilepsy?

The vagueness of it all is so frustrating. I think lots of people are expecting the MRI to be it, if it is clear then everything is ok, and if it isn't we will have an answer. But it really doesn't work like that, does it, if it is clear, we will still be in a position of not knowing, and ds will still have the issues he has, and if it isn't you can be sure, there will be further testing to narrow things down further. I tried to describe it to a friend, by saying it is like having a door opened hoping to find an answer in that room, only to go into the room and be faced with another 5 doors, and so on and so on.

Anyway, ds is asleep (he is completely out of whack from yesterday, up half the night!), I am writing Christmas cards, baking stollen and there is snow outside, so i am getting into the festive spirit! I hope you all have lovely Christmas's planned, I think we all deserve happy and peaceful ones!

You must be glad thats over hazey. I dont think MRIs are usually definitive. Ours wasn't. They cant tell if what they see is a normal variation or not. Alos they explained that even when they can see things wrong they cant predict the impact. Guh!
Your description with the doors is spot on hazey. I feel like I am going round in a maze. I think the only thing taht would really help is a crystal ball. If I could just get a glimpse of her in the future and know how it will turn out. Thats what I really what to know.
I realise more and more that I need to find a way to lay aside the search for answers. But I cant seem to get there

I know what you mean. The trouble is even if there are some answers, they probably won't be definitive. A friend who has a lo with similar issues to ds, has had genetic results back showing that there is a lengthening of one of the arms of one of the chromosomes, it also has a tiny break. Apparently there is no other case on record of this, so she still has no idea what it could mean for the future of her lo. Her consultant said that all they can do is watch and wait, and provide the best support for each issue as they arise. It is extremely unsettling.

I'm in the doctors surgery waiting for an appointment, I'm going to demand a referral to a paediatrician for DS, wish me luck

Good luck cbeebies!

hazey, glad the MRI is over for you,at least the actual event bit anyway. I think you are right with casting the net wide. DD has had funny turns since she was a baby but the neurologist felt they could be her other condition so didnt want to say epilepsy till the last two which were recent. She had one at three where she just dropped to the floor but no jerking etc the others have also been fairly subtle and so the meds decision was hard and I am regrettig it as I know it will mess with her emotions and sleep-in fact I feel I have possibly made the wrong decision, going to see the GP to talk it over as am just so worried about further disruption esp as we have just got her into a good sleep pattern following months of hell after her steroid dose was upped. Really feeling all this at the moment it is just so relentless.

While I was in the waiting room I got a call from the SALT from the private hospital that I had called the previous day. They said their paediatrician was retiring so wasn't taking on any new patients and they couldn't offer me anyone else. She also said they couldn't offer me a diagnosis, it would have to be through the nhs. But I went to the GP and he then started the 'the school are dealing with DS through Ep' line and I said I couldn't wait 6 years which was the estimation they gave me. So he has written a letter to the community paediatrician and I'll hear back in a month so hopefully things are going to start to progress

How are you all getting on?

we have the results of the mri in already, all 'normal'. Feel a strange mixture of relief and frustration.

Ds's blood tests were awful, I can't believe how bad they were tbh, and wish they could have done them during his mri. we waited for an hour while they sorted out the forms, then it took 15 minutes for them to get a needle in, then 25 minutes to fill 12 vials (12!!!!!!) and one long thin glass tube, which had to be rushed off to be put on ice. ds screamed so much he seemed to pass out at one point and his hand and the floor were covered in blood by the end.

i think the blood test and mri have been fairly traumatic for him, as he is struggling to sleep anywhwere but in my arms, nightmare!

hope everyone is ok, and settling down for a good christmas.

just wanted to say, i hope everyone on this thread has had a good xmas and we all have a good new year, hopefully with some answers for our dcs.

Hi

Happy new year everyone, let's hope 2012 proves a happier and easier one for all of us. Sorry I haven't been on the thread for a while, it's been a bit manic in our house lately. On rope of DS1s problems I had surgery in November to remove a tumour and then in December we found that DS2 will need an operation on his kidney. It's all been a bit much tbh.

Hazeyjane, DS1s blood tests were also awful. It took them three attempts to get any blood. He understandably screamed the place down and was really bruised for a week afterwards.

Hi everyone

Just catching up on the thread after a couple of months break. Sorry that none of us appear to be any closer to answers. Hope you all managed to have a good Christmas and New Year.

We have moved house twice since the end of October. It is a bit of a nightmare trying to get all DS's appointments and referrals coordinated across areas! Trying to get his community support sorted is a slow process...

Hazey - we too have had a clear MRI, bar some 'minor delayed myelination'. We have seen the opthalmologist, who declared DS is very long sighted and has a variable convergent squint in both eyes, plus minor nystagmus. The good news is that the back of his eyes look healthy, which apparently means degenerative disease is less likely. Not ruled out (when is anything), but less likely. We have seen the paediatrician twice since October, both times he has retested for elevated thyroid stimulating hormone. I am struggling with what this might mean. And of course no-one seems to be able to/want to tell me.

Neurologist appointment on Tuesday, and we have a referral for a geneticist and a dietician. DS hasn't gained any weight since October which is concerning. He is so small as it is.

I swing from thinking 'isn't he a lovely little boy, aren't we lucky' to sadness and fear. He is 10 months now and still can't sit up. He is so weak in his trunk . I know I shouldn't compare, but when did your children reach physical milestones like sitting and rolling? DS can roll, but does it very very rarely!

hello hanbee and crazycatlady.

ds sat at 1 year, and he made a lot of progress when he could sit, showing more of an interest in toys and his truncal strength improved too. He has been standing and trying to walk (with a walker) for the last couple of months (he is 18 months now) - the horrid standing frame helped a lot with developing his core strength. He has only started rolling in the last month and can't crawl at all.

Ds has also been referred to a geneticist and for a chromsomal array. A new paed we saw noticed a few things about ds that led her down the genetics route (mildly dysmorphic features, widely spaced eyes, a preauricular pit, tapering fingers and peeling toenails!). He also has to have tests on his eyes, as there is a slowness there which is hard to pinpoint.

At the moment though the pressing thing is the videofluroscopy and ph probe. Ds was in hospital over xmas with an awful infection, whcich his paed said was wan aspiration infection. As he has acid reflux, he is in danger of damaging his lungs, so we have to get on to it quickly, and so far no-one can agree who should do the referral!

Happy New Year Everyone!

Not been on in ages either and have almost caught up with whats been going on. No answers here either. We got a letter from our geneticist before xmas to say Luca's hypotonia screen which included a chromosome analysis and microarray are all normal. Mentioned Prader Willi and some other names i can't remember all clear. First time i've had it in writing whats actually been done so will ask some questions at our review meeting in March. Only other thing neurologist could suggest is an MRI but we'll make a decision on that later in the year.

Luca himself is coming on well though, he is now crawling (very fast) and is up on his knees and much happier on the move. He has his piedro boots which has improved his standing and walking. At the moment we are working on getting him to get up onto his feet from kneeling and cruising. However, we have found since he's been crawling he is not as interesting in the learning to walk and just slumps onto his knees to get away! He is a very very busy wee boy!!

I still have my nervous wreck days and frantic googling sessions. My worry now is having more children and not so much Luca now as i''m pretty sure i know whatever he has will be on the mild side. The main symptom he displays is still hypotonia and a few soft dysmorphic features. But perhaps future children will be more severely affected. Again questiosn to ask the geneticist who'll prob burst my bubble!!

Hello ladylou - glad to hear that you and Luca are doing well.Ds was also tested for Prader-Willi, but we haven't had that result back yet. How do you find the Piedro boots, ds hates wearing them, and they are too tight because he has such round feet and fat ankles. He also hates having his feet touched so he screamed the place down when he had his feet measured for a new pair on Tues!

I've just had a shitty morning, so I'm just going to have a moan here, if that is ok!

We went to ds's special needs nursery and he was so miserable and clinging to me, and the physio there said she had some real concerns about his feet (which his paed has never really mentioned), and he screamed some more because she wanted to have a good look at them. Then the speech and language therapist came over and asked lots of questions about the aspiration infection he had at Christmas, and the upcoming videofluroscopy and ph probe. Then the focus switched to trying to prise him away from me, and the fact that he is so clingy. We have agreed that next time we go i will leave him with a keyworker for a minute whilst I am in another room. The awful thing is he is worse at this nursery than just about anywhere else, and I'm sure it is partly because I dread going there. I feel awful just saying that, but I feel drained physically and emotionally when I come out, and sometimes, like this morning, it is like having several appointments rolled into one. I feel as though we don't have any control over things that happen there, and none of the other parents seem to speak to each other. I know I just have to perservere, and that in the long run it will be of huge benefit to ds, but mornings like this morning just destroy me.

Ok, moan over - how is everyone doing?!

Hi guys,

Just a quick update that we've had the results from some of DS1s bloods. U&E's ( not sure what that is), creative kinase, thyroid function, ferritin and biotin's all came back normal. Still waiting on the array results.

Dear all,

Another MNetter recommended this thread to me as she thought it might be helpful, and I hope you don't mind me joining, as I am feeling a bit bewildered about treatment for my ds2. Just reading all your previous posts has been so helpful. I don't know anyone personally who has had children with anything similar to mine and I have been feeling quite isolated and worried ( mildly hysterical) and feel that if I mention my worries to friends, they either seem to try and change the subject quickly, look embarrassed and say nothing, or say, it will all be fine, which I find hard.

So, my ds2 is nearly 2 now. He was born with complex club foot (both affected) and a deformed left hand that didn't open up as you would expect.
I had to transfer him to a London hospital for care of his feet as the local team made bit of a mess of them. He walked at 21 months but has no significant movement in either forefoot/toes, so has to wear AFO's in the day (splints to support and protect feet) as well as ponseti boots and bar at night. We don't know if/how much he can feel anything in his toes.
His left hand has opened up but is less dextrous (hope that's the right word) than the right one, and still looks a bit peculiar.

Our physio who cares for his feet had him referred to a neurologist because of his hand being abnormal as well as his feet.

He did have genetic testing at 3 months due to hand, but this showed nothing untoward.

Well the neurologist saw him in November and scared the living daylights out of me, blithely mentioning potential spinal problems that might need investigation under GA, and a myriad of tests and potential tests for other potential rare chromosomal abnormalities.

So ds2 has had bloods done, has a high lactose so that needs repeating, and the neurologist has requested an EMG to be done, which I have heard can be really painful. I am ambivalent about this obviously, as it may or may not be very helpful.

I hate putting him through this and wonder what it's all for in the end. I'm not sure a diagnosis, if we can even get one, will help his mobility that much, but I don't know. I just feel like burying my head in the sand and not dealing with it. The trips to the hospital involve a 5 hr round trip, I have an 8 month old with reflux who is a poor sleeper, my ds2 gets travel sick and I just find it really exhausting. I dread it. and I hate putting him through ECG's, bloods etc when he isn't old enough to know what's going on. I don't know if they're just ruling out stuff or what. The neurologist spoke so fast and in such medispeak I found it hard to keep up.

I know compared to what many of you are going through it's not nearly as hard but it just seems really overwhelmingly stressful to me at times and as I said, I don't feel anyone I know personally gets that.

Forgive me if I'm whingeing, I just really feel the need to let off steam at the moment. Ever since we've seen the neurologist the strain of what's coming up is taking its toll on me.

Thanks for reading if you've got this far and if you can offer any advice/support I would be really grateful.

If anyone else's ds/dd has had an EMG or similar I'd be really grateful for any info on what to expect.

Welcome bigsquiz .

You are right, it is overwhelmingly stressful at times. Here is a good place to talk. You are not whingeing. You have an awful lot of stuff to deal with and it is quite a feat to stay on top of it all, both from an organisational and emotional point of view. Just explaining it to others who aren't in your shoes is exhausting.

I'm afraid I don't know anything about the EMG, although I am sure others here will.

Great to hear about the standing and walking hazeyjane! I hope too that DS will sit by the time he is a year (in March). He is getting stronger... The SN nursery sounds like it will be good having access to experts in one place but it's overwhelming enough getting feedback from one at a time let alone all of them at once...no wonder you came away feeling a bit bewildered.

How brilliant about Luca's crawling Ladylou. Sounds like he is doing really well. I share your worry about future children. We'd love to have a third but don't know how we'd manage with another child who needs so much care. I think we will talk to the geneticist (when and if we ever get to see one...) DS's genetics referral is taking forever. He had a chromosome array done months ago that was clear so I guess the geneticist will be looking for something a little more subtle (but not necessarily less serious). I have no idea where to place my expectations for DS. I had thought we might have ruled out the scariest life limiting conditions through his earlier testing but more frantic googling has revealed that perhaps we haven't...

He had surgery at the weekend to repair hypospadias (his wee hole was off centre and the skin on the back of his willy was too tethered). Poor little sausage (no pun intended) has the most enormous dressing and a catheter for the next week and is drugged up to the eyeballs to manage the pain. Our hospital stay was hideous and neither of us had any sleep. Thankfully DD is in nursery today so we can recover and nap a bit. Washing machine has packed up though, brilliant!

And now to get on with planning our move to Cornwall. I was worried that we couldn't make it work with DS, but the more research I do the more excited I get. We are going down in March to househunt .

Hello Bigsquiz! I'm glad you found this thread, it is a bewildering time going through all these tests, don't belittle what is going on with you it sounds like an awful lot to deal with (and big sympathies with the refluxy 8 month old!). An EMG has been mentioned by ds's paeds, but they seem to be throwing every test going at him, and I'm not sure the EMG has been mentioned again. Am I right in thinking that it pinpoints particular areas of concern, like a muscle or a hand, apart from that I don't really know much about it. The added stress of having to be seen in London, must be a nightmare on top of everything else.

Hanbee, hello. Glad you have some results back and all is ok. U&E is urea and electrolyte tests, I think it is to do with renal function?

CrazyCatLady, sounds as though you are having a veryexciting time with the move coming up, good luck with the househunt and hope your ds recovers well from his op.

I am preparing myself for a marathon phone session, trying to sort out ds's videofluroscopy, it seems to have halted again, and I am so sick of trying to get the paeds or the salt to sort it, I am going to see if I can 'politely' try to speak to the hospital....deep breath.....

Hi all. We are all doing well and DS is making great progress physically and with his speech. This week he started walking pushing along his baby walker. He is a bit too tall for it, but he looks so cute walking!

Results wise, there is nothing new. We have passed from the geneticists to the metabolic team and they seem to have a bit more money for testing and the consultant that we see is more friendly and a little less doom and gloom. We have another blood test to do that the hospital tends to do in these situations which runs through the main known genes that may cause metabolic conditions, but I think that they are still doing this speculatively.

bigsquiz
Welcome! It is hard when the specialists don't appear to think about the impact of what they are saying to you. In the 2 years that ds has been tested for things, we have had some specialists that have not said things in the best way and then there have been others that have been lovely.

My ds was also born with severe club feet, but the general consensus is that it is not related to any condition because my dh's aunt had club feet. His feet are being treated with Ponseti and he still wears the boots and bar at night.

Ds had an EMG last year. It wasn't as bad as I bought it would be. Here, in Australia, you go in as a day surgery case and they give the child gas and air, so ds wasn't really with us when they did the testing. The results were 'normal' and the only bad thing that happened was when ds came round he did the most ENORMOUS, runny poo that went everywhere, through his clothes, over the sheets and I ran out of wipes to clean it all up. I had also forgotten to pack spare trousers (oh the shame!).

We have got to the stage that we have a partial diagnosis, but I am not that bothered anymore about finding out any further as we just seem to be getting into the realms of the even more rare and unknown. The more rare it is, the less a proper diagnosis is going to help us.

Just do the tests that you are comfortable with and that seem necessary at the time. I have resisted an MRI for ds for a long time now because the thought of a GA is just too much and I am even more terrified of the results. As ds is 3 and not walking independently yet I know that any MRI will be 'abnormal' anyway and I can't see how we would change what we are doing with ds. At the moment he is progressing well and I'm happy with where we are although it has taken me quite a while to get to this point.

I've rambled on quite a bit now and need to get on with the day... Take care all!

Thank you so much crazycatlady, hazeyjane and stillinmypjs for your kind and thoughtful words.

crazycatlady I hope your little man is recovering well from his op, and that you're both feeling less tired now. Sounds terribly stressful. I too google stuff, and always come away a nervous wreck. I did it a lot when I was pregnant with ds2 and the club feet were found. It ruined my pregnancy as I couldn't put the thought out of my head that he might have Edward's syndrome or similar. Hope the geneticist can give you some answers about having another baby....my OH was completely stressed out when I became pregnant with ds3 as we were barely coping as it was, and ds2 was only 6 months old. When I went to the gp just before christmas last, he flagged up the fact that ds3 wasn't sitting up at 7 months and said I must come back if he didn't do so by early new year. It sent me into a spiral of catastrophic thinking (which I excel at) but he's just managed it which is a huge relief.

Hi hazeyjane. I very much feel for you re sleep deprivation. It makes the days so so hard. Is there anything the drs can do to help with that, or tell you when it might get better? Reflux is rubbish isn't it. My ds has bed blocks, sleeps on his front, max dose ranitidine, but he's still so uncomfortable sometimes and I'm sure it makes him as wakeful as he is. Yes you're right re the EMG, I think they're looking at nerve conduction specifically in the muscles in his lower legs as there's this query about some kind of lower limb disorder...my OH is much more sanguine about it than me. I feel this terrible angst that I am putting him through something which ultimately will do no good, or just lead to more tests which hurt but don't help. I know that sounds terribly negative.

stillinmypjs great progress with your little man! congratulations! It was lovely I remember when mine made that step... It took him ages to build up the confidence to do it, which was a real issue, also with walking too. He walked for the first time when a friend came round and got him so overexcited he forgot himself, let go of the stair gate and took two steps. I had begun to wonder if he would manage it, and if he did if his gait would be really really odd. I think he'll always need splints, or at least til he's a grown up, but that's not a big deal at all. Thank you for your account of your ds's EMG....made me chuckle as I am notorious for forgetting something vital!! I have to make a list but somehow still manage to miss something. It is good to read that you have reached a point where you are happy with where you are. I think in terms of coping I need to try and be more in the moment, if that makes sense, then I would undoubtedly be more content and focused on good things in the present, and there are plenty with 2 little ones and one big boy, (and I shan't have any more), rather than worrying and catastrophising about potential futures.

Warm wishes to all on this thread, I hope you are all managing to keep your heads above water and that easier days lie ahead.

PShazeyjane Any luck with the video fluroscopy? Seems totally inappropriate and unfair that you have to wait so long in the circumstances

hazey how did you get on speaking to the hospital? It takes a lot of energy to keep on requesting stuff and asking for info doesn't it?

PJs your DS sounds like he is making lovely progress! I am hoping that I will know when I reach the point when enough testing is enough. At the moment I am letting the docs keep on, in the hope that a diagnosis will be helpful, but there is only so much testing I'm willing to put DS through. It is pretty gruelling.

bigsquiz my resolution for the next few weeks is to follow your advice to try and be more 'in the moment'. With planning for such a big move I am trying to second guess what his needs might be in years to come which is probably not that helpful and more than a little bit emotionally fraught.

DS is recovering well from his surgery. He did some great babbling today and has been very interactive. Lovely to see even when he's drugged up to the eyeballs! Back on Monday to remove dressings etc...am quite dreading what his poor crown jewels are going to look like all swollen and bruised.

Crazycatlady, I'm in Cornwall and have found services and support much easier to come by here than I did when we lived in the south east.

We are within travelling of Plymouth (Derriford Hospital)so are seen there rather than Truro and have referrals to the Bristol or Exeter teams as needed, some of whom do monthly regional clinics at Derriford. Our community hospital and paediatrician is 10 mins away and really good. Physio, SALT and portage all home visit because of the rural area.

I've also found that most other mums I've met have been very accepting and non-judgemental.

Hope that might reassure you that a big move to a rural area can be done with a child with complex needs!

Of course, I forgot you were in Cornwall! My brain is like a sieve right now. Very reassuring to hear about the community services in particular. I'm not worried about having to do long trips for hospital appointments as (hopefully) these will be less frequent but the therapies are weekly so I don't really want to be trekking about all over the place.

Your point about the other mums is heartening too. Where we live now is a very competitive, status-oriented kind of a place, which disability doesn't really fit in to...

Well we now have three trips to Cornwall in the diary for this year to house hunt and look at schools so hopefully we will be there before 2012 is out .

How is everyone?

Hello, ds has finally got his videofluoroscopy appointment, for 17th feb. We have a whole gaggle of appointments, all coming at once, paed meeting, opthamology and videofluoroscopy. Now appointment through, I am nervous about how we will actually manage to get him to eat!

He had a hearing test last week, which annoyingly was inconclusive, it seemed as though he didn't respond to certain pitches, but dh thought the test itself seemed a bit clunky. Anyway they want to re-test in 3 months.

How is everyone doing?