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?

Phew just back from an appointment we had been waiting an age for, with a neurologist at John Radcliffe. It was a hugely stressful morning, from getting the girls ready to drop at a friends so she could take them to school for us, then getting lost on the way to the hospital, not being able to find a parking space, and then having to wait an hour to see him.

He has ordered another raft of tests, tests for metabolic, further genetic tests and he seemed concerned about ds's eyes and bladder function (not something that we had even thought about) he could not believe that ds had not had a videofluroscopy yet with his choking problem, but thought it might be better if I called and made a fuss rather than have the hassle of having to have it in Oxford.

All in all it was a bit inconclusive and I was very nervous asking him all the questions that I had to ask, but he seemed to be thinking along the lines of genetic conditions. He was however surprised by ds's strength for someone who had suffered with very hypotonic muscles previously, he also said he seemed social and interested and good at playing (which is a huge step from a few months ago).

He apologised for not being able to give us a diagnosis (!) and said that we may never get one, which we have kind of come to terms with now. I think we are pleased that ds is making progress, and developing in his own time, but there is this constant worry about underlying issues, eg the eyes and bladder, and the choking thing.

Hi hazey sounds like a tough day but a good appointment. Will you be seeing this consultant again? Good luck with MRI - is that tomorrow? I know its soon, I hope you have a reasonable day of it.

Hello Lenin!

I think dh and I are getting good about focusing on the positive! There is underlying worries about various health issues, and the eyes is a new one to add to the murky angsty corners of my brain. Ds is hard work and our nights are still awful, but the progress makes it all so much easier. How are things with you?

The MRI scan is on the 15th Dec, and the consultant yesterday hopes that we might be able to have some more bloods done for genetic tests at the same time. He has discharged us from the hospital we went to yesterday, but will still see ds by coming down to the hospital where ds is normally seen.

Ds has just had a schedule of growing skills done, which put him overall at around 10 months (he is 17 months now) with a greater delay in visual, cognitive and speech and language. FirstTimer, do you have these or Ruth Griffiths assessments done regularly?

The associate specialist tried to do a griffiths scale assessment with her and it came out really low. About 8 months on average. But I find do her not very good at engaging with my daughter. Shes quite negative throughout the appointments. And then plunks these little cubes down and leaves them - for my DD to ignore...Maybe thats how the test is done...? But she did write in relation to these test scores that DD was not impressed with the testing material.
She has also said that she doesnt think my daughter understands what food is. Which I was really puzzled over. I dont really understand what that means. My daughter eats fine, no weight problems etc Her hunger signals are a bit subtle they are there. Shes not all that fussy yet but she can get stroppy if you make her wait too long for her meal so I really dont know what this she is talking about. She seems a bit wierd in general. I am hoping the peadiatrician will be at the next appt again. She was just better at getting an interaction going.

Its like this every single time. I think I am getting better at dealing, but if I am its incremental progress. I went out last night with my NCT group. They are a nice bunch, not insensitive, the conversation wasn't overly child focused/development focused. I like them I would like to keep up the contact.

BUT it always throws me. All the way there I was thinking about how much/little to say about whats happening with us. I hate always going on about the terrifying crap we are living through. And the evening was good really. They all asked how we are doing but we didnt dwell too long on it. So I didnt feel either ignored or like I am sucking all the air out the room with our traumas.
Just today I have little snippets of conversation about the games they play and nursery rhymes they sing keep whirling around in my head and I just want to cry.

I hate that this is so hard, I hate that I cant seem to get over it, I hate that I am jealous. I am loving my girl at the moment. She's very happy, pleased with herself and fun right now and I have been really enjoying her. PLus we have had all these lovely normal test results back. So its good times really.

I dont know: I want to keep up links to the NT world, but I find often its just so hard.
OK vent over - I am back to work. I hope all of you out there are doing OK.

And breathe....

Firsttimer, poor you, I really empathise as I'm sure a lot of us on here do with the feeling slightly out of it in a group-I get like that after too despite, like you, having mum friends who are quite sensitive to DD's issues. It isn't fair so its ok to feel like that.

Hazeyjane we are under a neurologist in Oxford too, we are seeing him again next week in fact and hoping for some answers about DD's MRI. Well, it was clear but hoping for any minute detail really that could give us a clue as to the why questions.

Meanwhile DD is about to be tested for metabolic and organic acid conditions (I think-must re read the letter, been deliberately not reading it properly as I know I will only google what the latest tests are for.

oops I did google and went through a lot of conditions-they are testing for various organic and amino acid disorders and MPS. I have found an amino acid one that fits very well with her symptoms. It is degenerative of course. Wish the tests could be back now and not even had them done yet and I expect it will then be while. This is round three genetic tests asthey wanted the MRI results back before testing for these ones.

Firsttimer, sorry to hear you are feeling the way you are. It is very hard isn't it, I have good days and bad days. There was a christmas drinks night for dd1's class last night, I went,and it was fine at first, just a few mums. Then a mum laughed at me for checking my phone, to see if dh had rung, and I said I just wanted to make sure ds was ok. 'Well he'll cope, won't he?' she said, which is true, but if ds is having one of his choking episodes, it is horrible and it can take ages to get him calm and frankly afterwards, dh and I feel quite shaky. Of course I didn't want to go into it all, and i just thought, I have to get out of here, all i want is to go home and check ds, and hug my lovely dh and be with someone who understands.

I have some very good friends, who are very helpful and listen to me when i am worried, but tbh, i don't think anyone really gets it apart from dh.

I am getting myself into a panic about ds getting ill before his MRI scan, which would mean they won't let him have it. Part of me wants to close the doors, coat ds in antibacterial gel and avoid all human contact. The other part of me realises that I have a life, and so am going to the germ factory that is primary school to make Xmas decorations with dd2's class.

Used2bethin, ds is being tested for metabolic disorders as well. I haven't yet googled, although I am sure that in a deep dark corner of the night i will find myself doing so! Is your dr MP?

hazeyjane no its Dr M-S if that makes sense! As for the googling I can honestly say that there is not much point-some are dreadful some are almost harmless and others in between and there are soooo many that I think it would be impossible to take them all in and remember it all. I found one which fits with dd very well but am probably completely wrong and hope I am. Its never worth googling just so so hard not to.

yes, when ds was tested to see if he had spinal muscular atrophy, we googled and he ticked all the boxes, but the test came back all clear - even if everything seems to fit, you don't really know until the results come back. Have they said how long you will have to wait?

No and we havent even done these bloods or urine samples yet-bet it will be a couple of months it was with the last lot of genetic tests as its not really urgent (to them!). Such a worry after the clear MRI result, which of course was good news but now this.

Re colds and general anaesthetic, dd has a genetic condition that makes her more vulnerable when ill or under physical stress, its quite serious with anaesthetics etc. Having previously had an op cancelled due to her having a cold I was very anxious this last two generals and both times (gromits and MRI) she was just at the end of a cold, this time she coughed all the way to the scan but she still passed the examination and was fit for the anaesthetic. I think as long as its not affecting breathing they do it as the MRI is a short procedure-even for her they let her through so try not to worry too much. I remember dd's first general I kept her in the week before terrifiedof it being cancelled due to ill health again and then went in for her pre op assessment and gah the doctors and nurses were all full of cold!!

Just had a letter through from our meeting in Oxford - does anyone else find that sometimes the letter bears no relation to what was said?!

I feel a bit wobbly and sick reading through the various tests he has suggested, one of them is for prader-willi syndrome, renal and liver, all sorts of amino acids and various words of more than 4 syllables. He also suggests a meeting with a genetic counsellor. On the positive side he says that ds's tone is within the low/normal range, and he has normal power and reflexes.He describes him as having dysmorphic features -hypertelorism, prominent tongue and tapering fingers.

Annoyingly in the letter he seems to have got sight and hearing mixed up, saying that there are concerns about hearing, but not vision - when the opposite was talked about at the meeting.

I am writing this post, to stop myself googling all the long words in the letter - I will wait until dh (who is far more sensible and less panicky than me!) comes home.

Hi everyone
I know what you mean about groups. Luckily when we moved cities I started going to a different mothers group where there is a range of ages of children. It has helped me to forget sometimes that ds is different as there are so many different stages of development to see.

Although last weekend I was hurt when a very good friend was saying that the earlier you wean a child, the more open they are to different foods (i.e. less fussy) they are when they are older. I just said that wasn't always the case, all children are different and that ds didn't really start solids until he was 12 months and he will eat anything now. Her reply was along the lines of, 'yes, well that's your ds' implying that my experiences weren't that relevant because ds is so different. It does upset me that sometimes people don't really take what I am saying seriously because he isn't typical.

I think that other people we meet have a hard time understanding what it is like for us because having a child with special needs is something that happens to someone else.

Re testing and googling, we have been in the position twice where geneticists/metabolic specialists have been absolutely convinced that ds had a certain syndrome only for gene tests to come back normal. One case was so unlikely to us as the statistics were incredible! So even the experts can get it wrong. Some metabolic and amino acid disorders are very, very rare and often only the genetic/metabolic specialists have ever heard of them. With ds's amino acid disorder, other people can have the acid in their urine and have no symptoms, but only the worst cases are put in the medical journals.

Onto the good news for us. Ds's current diagnosis means that he may be prone to developing certain conditions, one of those being optic atrophy (a degeneration in the optic nerves - not nice) We went for a second opinion to an ophthalmologist this week and the fantastic news is that he shows no signs of this at all. I am so happy. She suggested patching one eye for an hour a day as the other is is a little lazy and was very impressed that ds knows all of his letters at 3 years old.

He has started cruising around the sofa and will walk holding onto a stick. We are making huge progress (6 months ago it was a mission to get him to stand up holding onto a stick.) He has to learn to walk soon as I am expecting surprise fraternal twins in June. I never do things the easy way!

hazeyjane poor you, as you know we are waiting for the amino and organic acid ones and mps. DD also has some unusual features according to the geneticist and it isn't nice reading it on paper, she is so pretty and here they are talking about low hairlines etc etc. Not that it was the geneticists fault just always worse on paper. And yes sometimes what they write isn't always true-I am having to ask the neurologist and others to clarify as we have global developmental delay and specific language impairment as two diagnoses on one letter-I thought specific language impairment meant it ISN'T global, argh!

Stillinmypjs I totally get that about friends, I have tried to say reassuringly about dd oh she didn't do x till x age only to get sympathetic looks or alarmed looks because of course in dd's case things weren't quite right! But some of her development is on track so sometimes it is relevant!

The condition I found when I googled is playing on my mind so it is interesting to hear your DS has an amino acid disorder-there seem to be a huge range of them and the affects of them.

The one I thought fitted dd so well is one that causes s and l problems-of which dd has lots! And I don't want to set others off googling but some of the things I had found reassuring about dd's development are not so reassuring with this particular condition and the outcome, although not worst case, would be not great. I know I know though it is so pointless to speculatte.

This testing thing is about to spill over into next year! I am considering ringing the geneticist and asking if there is any way for me to pay to speec up the time it takes to hear results but I bet there isn't without going private completely otherwise everyone'd do it.

Having just been through a hellish rund of tests my only advice is step away from Dr Google. He is NOT your friend. I can't ever follow that advice myself but if I was sensible thats what I would do. Metabolic disorders are such a wide range also that without knowing a bit more goolging is impossible.

Too give you hopw regarding the time our tests came back in 3 weeks (we'd been told the usual 6 weeks (whiche tends to mean 8-10 weeks)

Regarding errors on Drs notes a support charity advised me to get them corrected as this stuff later gets used as evidence in statements, DLA applications etc. I think its just that Drs cant read their own handwriting for some of them. Or have missed out a 'not'. So we get 'she has started waving', when in fact she has not started waving. I havent managed to look into having the notes corrected. So if you can bear it its best to send them some corrections I think

I am so snowed under at the moment that it feels like failure on every front. I am tired, look a complete overweight mess, my work is suffering and I am not meeting deadlines, plus my brain is foggy and I often feel significantly more stupid than I used to be. It feels like a slo-mo breakdown. Part of me wants to be dragged kicking and screaming into the asylum just so I can get a break. But then I think about my girl and that she needs me and I grit my teeth. I dont know how much longer we can keep going like this. We have a months holiday soon and I just hope I will have re-grouped after that. Cant wait to see the end of 2011. Year of Hell.

On googling. I really do think its unhelpful. I am well educated but not a medic and I often find that I have completely scared the crap out of myself reading some thing that has come up after I enter a medical term into google. Medical journals tend to focus on the worst cases etc and I realise when I get a medic to talk me through something that I actually do not have the relevant skills to be able to interpret what I am hearing adequately. I dont know how many of you ahve science backgrounds and whether that helps but I think that this humble social scientist might even make no more googling a new years resolution.

ON that note does anyone have a plan for next year and how to make it better?

Oh right there with you on falling behind at work-I just find it so hard to concentrate and its so constant that there is no point mentioning it to work but some times work at least gives me other stuff to worry about I suppose. Am 14 weeks pregnant now and been so ill I have lost loads of weight, instead of looking good I look haggard though and have fallen behind with grooming! Ahh definately feel your pain bet others don't even notice though!

I think trying to have the cliche "me time" really helps, little treats and just trying to get enough rest (ha ha)! Next year I will get married and the party is to be delayed so I am loking forward to it mainly because DP and I will go to a hotel for three nights alone-and SLEEP!!Other than that my resolution is to really knuckle down with the therapy for dd before the baby comes and get organised with the millions of bits of paper we have everywhere.

Good to hear the results were three weeks. I have now asked hospital to do the tests as dd has tricky veins so won't even get them done for two weeks possibly. Life on hold a while longer then!

This made be of interest to some

www.itv.com/daybreak/lifestyle/health/undiagnosed-illnesses/?plckItemsPerPage=10&plckFindCommentKey=CommentKey:04ae7fcc-e9ce-487c-b35e-e16450597cea#pluck_comments_list

Swan UK had a piece on daybreak. You may be able to relate to it. Take a look.

Thankyou for the link, Hayley - I'll check it out later. How are you getting on? Has there been any more results for you? And how is your lovely ds?

I have just been to see our gp, who sat and went through the paed's letter with me. She thinks they are casting their net wide, because ds doesn't tick many of the obvious boxes. She is going to make some phonecalls to make sure all the relevant referrals are made and ask that corrections are made to the letter for later reference. (Very good point about corrections - when we applied for dla, one of the physio reports stated that ds was a good sleeper - which is a million miles away from the truth! which meant we couldn't use the report, until it had been corrected).

Ds is now booked in to have his bloods taken next Tues 20th, they seemed keen to get the tests in before Christmas. Fingers crossed that the results won't take too long.

On googling, i know it can be dangerous, but sometimes when you get the letter it is impossible not to. Even my gp didn't understand one of the terms used in the letter (hypertelorism - means increased distance between 2 organs, usually eyes), so I was glad I had googled that one!

I too am exhausted, I don't work, but with ds and the girls life just seems overwhelming at the moment. I think everything that has been going on with ds has suddenly caught up with dh and I, and we both just feel drained by it all.

Hope the doctor helped, that is a good idea to go through it all with someone. I'm glad you got the bloods booked in, I managed to get dd booked to have them done tomorrow at hospital as we are there anyway for neurology appointment-feel unprepared for the appointment sobetter sort in my head what I want to find out I guess. The bloods will be tricky as she has very poor veins due to over use and having had to rebook her flu h=jab shot today for thurs as she refused today, its not a good week for it! But the sooner done the sooner we'll both know Hazeyjane, wonder if our resulst will come back same times too..

I hope the blood tests went ok today, used2bethin. Did they have to take much? The list of tests they want to do with ds is huge, I'm worried they're going to need loads, last time it took 3 drs and a phlebotomist to take 4 vials, at one point they tried to squeeze it out of his toe!

Ds has his MRI scan tomorrow, I am dreading it. Mainly the cannula, the fact he won't be able to eat or have milk from midnight onwards and of course the whole general anaesthetic thing. His gp said yesterday that she thought it would probably be clear, and then there is that odd thing of being relieved and frustrated at the lack of answers all at the same time.

Oh hazeyjane good luck tomorrow! DD's MRI was fine, really less traumatic than I thought and over fast, 45mins ish from being taken in I think. She felt upset when she came around but then was playing in the playroom within half an hour or so. I asked them to just use gas due to previous problems with blood and getting canullas in. Its not nice but quicker than the canulla then they get the canulla in while she is out.

Today was ok thank you. DD was very very good about the blood (which made me feel awful at how resigned to it she is through having them so often). They only needed one vial and a urine sample as DNA etc was done from samples they already had from her first diagnosis period as a newborn.

I am stillconfused as to whether her developmental issues are neurological, we saw the normalMRI pictures which was weird! And they seemed unsure about her small head size just said they would keep an eye on it. Oh and we have decided to start treatment for the epilepsy which I now feel unsure about so have another thread going.