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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?

hazeyjane Thu 30-Jun-11 16:01:55

Hello Kelly. I'm glad you came onto the thread for a handhold. It is very hard when there is a lack of support. We seem to have seen tons of drs and paeds, physios etc, but I have spent the day chasing up a SALT referral that was made months ago, and the 3 different offices haven't heard of ds, so frustrating.

Are the bone growths in one specific area? Has you ds had any blood tests or any diagnostic tests yet? The waiting is horrible, but at least something is being done. Your ds sounds as though his speech is ok, which is good. Does he have any brothers and sisters?

Firsttimer7259 Thu 30-Jun-11 17:29:32

Oh kelly hope you are doing alright. Fingers crossed you see someone useful soon.

Well done Hazey on the positive list. Made me try to see things differentky too. I often feel I need to try to switch more into being my girl's mum again and stop diagnosing her. That includes just enjoying the good stuff.

How are you Hayley? My girl is almost 17 months now. Almost crawling. developmental delays across the board so she's like a 10 month old at present. Tho I would say her communication is further behind than that.

I am not coping at the mo. H is incapacitated. He's very ill and can barely walk. I left tired a long time ago. Dont really know how to deal with it all. I know I am currently in some kind of shock state but cant bring myself to care. Just go about ticking off the things on the to do list muttering about keeping going. We have nanny starting soon so if I can just make it til then I will hopefully get a bit more time to deal with myself after that (altho that ios when I am supposed to be working)

kellbell82 Fri 01-Jul-11 15:37:26

hi hazeyjane ds has growths on his left wrist , left shoulder blade and left rib we are seeing someone in london on the 12th july so hoping they can give us more info , his had lots of blood tests which all came back ok his waiting to have a mri and a scan on his kidneys , his speech is getting better can say about six words and babbles alot also loves pointing sounds like his saying whats that , i have 3 more children dd 12 , ds 10 , ds 2 so very busy house lol but i love it , i hope you get somewhere with SALT soon it must be very frustrating for you x thanx firsttimer we are really hoping the we see someone more useful in july its just does your head in with all the waiting and not knowing , sounds like your dd is near the same age as my ds thats great that she is nearly crawling , sorry your not coping at the mo does sound like your having a hard time with it all hope you find time to rest soon when the nanny starts x

ilovesprouts Sat 02-Jul-11 20:27:24

its a long jurney ds2 is now 4.7 this has been going on since 9m and still no dx

Firsttimer7259 Mon 04-Jul-11 10:02:35

Hi just a quick post. I made it through weekend and nanny is here. Cant believe i now wait for Monday with the same desperation I used to reserve for payday!
Kelly my sympathies on the bone growths. Lovely he's so chatty tho, I hope there is something they can do.
Hazey do you have anther nvestigation this week. I have all things crossed for you. Its crazy how long you wait. We are still waiting on chromozome results from 3 months ago!
Anyway my H got a dx of MS on Friday. Somehow we were just relieved to finally have it. He's getting better again, can move a bit better and his speech is improving again. I cant believe I am doing this on both ends of the scale at the moment. My main wish currenlt is that I had come out of the pregnancy a bit fitter and stronger. I dont feel physically up to the challenge of caring fr both of them.

hazeyjane Mon 04-Jul-11 14:55:52

Ds's genetics tests have come back normal and the Big Bad Thing that the drs were worried about (spinal muscular atrophy) is all clear!!!!!!!

On googling sma, dh and I are hugely relieved. Please join us in a toast to ds, with a glass of fizzy water/wine later.

We still have the mri scan to come, but we'll worry about that later.

Firsttimer, so sorry that you are having such a hard time, with dh being ill.

kellbell82 Mon 04-Jul-11 17:53:45

thats great news hazeyjane :-) i will have a glass or 2 for ur ds x.

ilovesprouts Mon 04-Jul-11 20:31:13

we are on a list for ddd test and array gch test but we have to wait for funding

Hayley16 Tue 05-Jul-11 21:10:07

Hi all
Had DS craniofacial app today. Nt gr8 news sad He has 2 types of different structral problems with his skull. They would like 2 operate bt due to him having heart problems the risk of him dying is alot higher sad How can i send my DS for surgery knowing he mite not return?? We have been booked in for an emergency mri scan which should tell us more about whether it is totally essential to do this operation. Never felt so lost & alone ever.
I hope every1 else is ok
Hazeyjane
so pleased ur results came bk ok smile Do u have a date for mri yet? We have just got DS enrolled on another dna research programme. Hopefully now hes on 2 we mite get some news.
kellbell82
sounds like ur having a hard time. Hope ur bearing up ok. Hope when u go to london you get some answers
Firsttimer7259
Hope your coping better now you have your nanny. Sounds like you have a lot on your plates

On a recent trip to our local hosp i came across a leaflet about a place called brainwave. not sure if anyone has looked into it but looks like a fab place for children with developmental problems. There is a charge for going but looks worth it if you can afford. They have 3 centres across the uk. Luckily one is close to us so is something im definatly going to consider with ds at some point.

hazeyjane Wed 06-Jul-11 11:09:28

Hayley, I can't really post now, as ds is crying, but I just wanted to say how sad I was reading your post, and send you a hug and say I am thinking of you.

I will come back an post more later, please have a moan/cry/rant on here. hopefully we can walk along next to you at this very tough time.

Firsttimer7259 Wed 06-Jul-11 19:35:46

Oh Hayley I am so sorry to hear your news. I am not sure what to hope for in terms of MRI etc but hope you get comfort and support from somewhere. I am thinking of you.

Happy to hear some good news too Hazey hears to you wine

Chin up all round

PS: many many thanks to person who posted the link to the budget Hanen (was somewhere earlier on this thread). I have had 'It takes two to talk' now for about a week. Read a miniscule bit of it so far. (I collapse into bed v v early these days). Its giving me really good ideas and helping me to interact with DD whihc is a revelation. Will describe a bit more another day. Too tired right now, but I have found it really good.

Firsttimer7259 Thu 07-Jul-11 17:17:04

Hayley are you alright? Hope you check in soon. Hope you are coping.

kellbell82 Thu 07-Jul-11 17:24:20

hi hayley hope your ok so sorry to hear your news hope you don't have to wait long for the mri big hugs to you x.

hanbee Thu 07-Jul-11 20:51:27

Hi everyone

Firstly, Hayley was so sorry to read your post. I can't imagine what you're going through at the mo. Hope you're ok.

My DS1 is 2.9 and development delays. Finally got a referral at 10 months as he was still not babbling despite my talking yo HV and GP on several occasions about his development/open mouthed posture/dribbling. Was referred to SALT and for feeding assessment when seen by paed at 12m, all other areas measured late side of normal. Crawled at 13 months.

Waited 9 months for feeding assessment by which time I had found ways to help him cope with lumps and manage finger foods. Waited 15m for SALT appointment.

Saw paed again at 18m when he was still not walking. Had a blood test for muscular dystrophy which was negative. Referred to physio and for piedro boots.

Finallly walked at 23m. Still v limited language but loves to communicate and starting to sign a fair bit.
He also has mild horners syndrome which may or not be related to his delays.

I keep a notebook which I list all the new things he has learned that month, keeps me trying to focus on the positives and makes me realise how many new things he actually does do each month.

anon1110 Thu 07-Jul-11 21:28:29

Hi Hayley,

Just read your post and hope your ok.

Hoping the mri goes well for your DS. Hopefully you will get good news and theres no pressure in his head (which I think is unusual given his age)

Did they say that they could do the op at a later date? May give your DS a chance of being stronger for the op?

My DS had a fused skull and we went through with the op, so know how hard it is watching and feeling helpless.

hazeyjane Sat 09-Jul-11 10:37:19

Hayley, hope you are ok, let us know how you are getting on. The waiting and wondering is so hard especially when you are trying to get on with day to day stuff with your dcs. Thinking of you.

Hayley16 Sat 09-Jul-11 20:35:20

Hi all
Thanks for the support smile
Im doing ok. Had a few hard days after, just constantly on my mind but im just taking it all one day at a time. I just really need wednesday to come so i can find out whats going on. I think its the not knowing that is the hardest.
I just have so many questions i want to ask them that i never thort to ask at the time. They said there was an increased risk of him dying but i was so taken back by hearing this that i didn't even think to ask what sort of percentage it would be of him making it through the op ok. Also if its his hole in his heart that they are worried about causing problems during the op can't they just close the hole?
I just feel so lost with him atm. Hes having such a hard time. Hes totally covered in eczma, he has hurrendous nappy rash that i just cant shift, his eating is getting worse (drinks about 50ml of an 210ml bottle then wants no more & he barely takes ne solids) & still can't get him to sit up unaided.
Hope every1 else is well

anon1110 Sat 09-Jul-11 21:29:38

Hi Hayley,

If I were you I'd make a list of everything you want to know, cos when you are in the room with the pro's its so easy to forget what you want to ask, happened many times with me! What they told you was a shock, so understandable that you didnt hear much else, make sure you take someone with you too incase if you miss anything.

Have you tried metanium for his nappy rash, my DS had it terrible when he was younger, to the stage where it looked like he had been burned with acid! couple of days with that it was much better.

Sounds like you need a hug, hope things pick up for you and your DS soon x

LadyLou30 Mon 18-Jul-11 21:36:09

Hello i'm new to mumsnet and trying to find somewhere we fit in. We are waiting test results again. My son who is one was diagnosed with low muscle tone or hypotonia when he was 6 days old after me insisting something wasn't quite right. We had all the initial testing including karotype and all came back normal, we've had physio since he was 4.5 months and i'm not sure how much its helped. We have a neurologist and geneticist who are trying to find a cause for my boys low muscle tone. He is a little behind - was sitting at 6 months unsupported, rolling both ways at 10.5 months, he's been able to weight bear on his legs since quite early but he's quite rigid with it but he does and can bounce. He trys to bum shuffle but just ends up bouncing in the air, he can lift his bottom off the ground, the only time he moves forwad withit is in the bath! He's not tried to crawl and can't get from tummy to sitting or from sitting to tummy, unless he falls over, but he is good on his tummy when he's on it and lifts his chest off the ground. He reaches and plays with his toys, he smiles and giggles and is very engaged with the world around him.
i must have read about 100 stories of babies/children with hypotonia and they rarely seem to find a cause, not for many years anyway or without more symtoms which my son just doesn't seem to have. He is a good feeder and has weaned beautifully. I think they might be testing his muscles now although i'm not sure?
I'm really hoping he is just delayed and doesn't have something awful sad

Hayley16 Thu 21-Jul-11 10:08:17

We still havnt heard anything back about what the scanned showed sad She did say they did clinics every monday where they looked at the mris. Might have to wait till next monday now.

Hi Ladylou30. I have no experience with hypotonia but sounds like you & ds have been through alot. I hope someone on her can offer you more support.

If anybody is on facebook theres a great site called SWAN(Syndromes without a name) The people on it are all awaiting diagnosis & they share their stories & pictures of there DC. Theres lots of support & advice. Its a great website. Definatly worth joining.

http://www.facebook.com/#!/groups/205554229483224?ap=1

Firsttimer7259 Fri 22-Jul-11 10:23:13

Hi Hayley, anything yet?
Welcome Ladylou. On hypotonia I dont really know anything except that when my girl had her first pead assessment at 14 months they said she was hypotonic, at second appt they revoked this as she'd gotten much stronger. They were surprised at her progress by second meeting. But maybe this means she never had it in the first place??
We have first SALT today, nervous. She is making so much progress that I feel much more confident its not something truly terrible but I just looked at the CHAT test again, shes almost 18 months and found myself welling up. We are so far from meeting some of these tests...We have an MRI booked for next tuesday to look at the structure of her brain and the suspense is hideous.

Good luck to us all and to our weeuns

SelinaKyle Fri 22-Jul-11 13:28:48

My DS has recently been diagnosed as dyspraxic and on the autistic spectrum. I say "Diagnosed" but it involved a woman with a computer with tick boxes on it asking us really useless questions for about two fucking hours. We are still waiting to see Occupational Health to find out what can be done with him to help him develop stronger physically, as he is finding it very hard to keep up with the other children at school.

hanbee Fri 22-Jul-11 21:18:49

Hi everyone,

DS1 (2.9 years) most recent assessment from the paediatrician arrived today and it says he has significant motor delays and speech delay. sad

They're going to review in the autumn and arrange further tests to see if they can find a reason for his delay.

On a more positive note. I've found him an excellent preschool which he starts in September, he had two taster sessions there this week and seemed to really enjoy himself. He was knackered afterwards though, bless him! Whilst there today he was visited by the senior area early years SENCO who has said he can portage (paediatrician said not), she has given the preschool a form to apply for extra funding to get him a one to one and has said he would more than likely be able to attend the child development centre preschool next year. Not sure if it makes me feel happy or sad...

hazeyjane Mon 25-Jul-11 09:22:38

Hello everyone, any news on scan yet, Hayley?

LadyLou, have they done any tests (genetics etc)? Ds has low muscle tone and developmental delay, and so far the genetics test have come back normal, so we are waiting for an MRI, and ds has been referred to a muscle specialist.

He has just started sitting in the last 2 weeks (when he turned 1), it has made a huge difference in him. He has started showing much more interest in toys, and actually getting frustrated (his lack of interest in anything used to worry me a lot). He gets tired very very quickly though, and I seem to spend half my day carrying him around, snuggled into me.

He has just been awarded a place at a sn nursery starting in Sept, I will go to, and it is very focused on play therapy, as ds's paeds think this will be hugely helpful to him

Hope everyone is ok, and enjoying the start of the Summer holidays!

Firsttimer7259 Wed 27-Jul-11 10:22:36

Hi Hazey that sounds really good. For the girl the point where she started showing an interest in her surroundings really marked a big change. It meant she had the motivation to learn new things so she could explore and that made a big difference

The nursery place will be good too. You must be tired. Its hard caring for a baby for so long. I am just starting to notice the toll it took on me to have a child who remained really a baby until recently (she has just started crawling!!!). Its tiring to carry them always, and to get so little back from the input you put in. Our girl was very blank for a long time. Smiles and things but quite unresponsive and it was exhausting. I kept telling myself that toddlers are tiring too, but I think it is different to have a baby for a really long time

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