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?

Aah, I have no knowledge of henry's cat, but a very wide and varied knowledge of all sorts of baked and fancy goods.

I have no idea why the pool is so deep, I must remember to ask next time, it is up to my chin in the shallow end, so I have to confine myself to a narrow sliver of pool!

I did an AquaZumba class at our local leisure centre last week, now that is something that you need to be neck high in water for. Zumba in a swim suit isn't pretty.

Woo hoo! go you that sounds so exciting - good luck with the admin side of things. Looking forward to more Orange on the beach pics!

Woo hoo! Two weeks, yay! Let me know if I can help you out with any names and phone numbers.

Hi all

Just a quick report in to say that DS1 has done his first two days at CDC and LOVES it! .

They take photos everyday and stick them in a book and write captions so I can see what he's been doing and both boys live yo look st the pics and talk about them. They have fish in their room and chickens in the garden. He also gets a second breakfast there and a snack so he really loves it!

So relieve

Hello all

Fantastic news about cdc, Hanbee, so wonderful when you know your lo is happy.

Good luck for the upcoming 2 weeks, Rumbaabaa, so exciting!

We are all getting over a sick bug, which has wiped us out for the last few days. I feel like I have the worst hangover ever (without having the fun drunk part first!) Dd2, ds and I are now at the ok, but still quarantined stage and I am being driven crazy by having to play constant Barbies at the Beach, whilst stopping ds snapping Barbie's leg off (we already have several in makeshift wheelchairs!)

Hopefully we will all be ok for Friday, when me and dds and ds are holding a cake sale for Jeans for Genes day, we need roughly 250 cakes, so I am going to have to really find my baking mojo...and quickly!

Using Jeans for Genes day as a starting point,we sat the dds down at the weekend and had a chat about ds, it went kind of ok, except dd1 concluded that everyone loved ds more than her and dd2 went away thinking that everyone with ginger hair has a genetic condition!

ulp when you put it like that it all seems a bit daunting!!

Our paed is a nightmare to gt hold of, he has not once returned any of my calls, emails etc. I once cornered him in the hospital cafe when ds was in with a chest infection - he looked terrified!

By the way RumBaaBaa, I have just seen you on the SWAN UK facebook page and have sent you a friend request - please don't worry if you want to ignore it!!

hi iam new to here but not new to speacil needs i have a 5 yr old son and knew from day one he was not right so to speak since he got a infection he changed from that point his own g.p has said adhd and aspergers but his pead refused and kept saying hes loud and boisterous and did recently accept he was not socially and emotional at the right stage then she interveiwed him alone and due to the school not disclosing everything she said no im diagnosing so now we have removed him from her care and going alone we have coped with his anger and frustrations for so long its now natural were used to him freaky out over lines on socks , having huge meltdowns over nothing, butting in and slapping i could go and on but im happy to share and chat and to realease sorry for spellingx

Hi. I hope everyone is well. I haven't posted here for a little while (mumtoJ under a new name!)

I was just wondering if anyone else has gone through the testing process for mitochondrial disorders or conditions affecting life expectancy on their diagnosis journey and how you coped with the waiting?

We are likely to have a muscle biopsy in the coming months and to be honest I am absolutely petrified. Not for the procedure (which wont be nice), but the result (which will take 8 weeks). We always knew a mito diagnosis was possible, but there were also many other options, the vast majority of which have now been ruled out. My sons symptoms (worsening complex movement disorder, developmental delay, developmental regression in some areas) fit with the worst, scariest of the mito disorders. They are holding back on the muscle biopsy until some repeat bloods come in first, as it is so invasive, so I don't even think we will be having it for a few months yet.

The thing that is also so odd is that no doctor has ever directly told us how serious it could be. Just that he could have a mitochondrial condition and that he is likely to need a muscle biopsy. I don't know if they are just trying not to scare us, or its just a conversation they don't want to have. I have just looked up the genes that are currently being looked at via bloods and one is for Alpers Syndrome, so it is obviously being seriously considered. That said, they know that I am well researched on all of the options, so perhaps they know that we are already well aware of what that means.

We had just started to come to terms with the prospect of long term disability and let go of the dream of 'normality' - we just want him to be happy. We are now utterly terrified that we carry some awful gene and we could lose him. I guess we always have been terrified of this, but until now we were focusing on the other disorders it could be. To make it worse, every time we get a negative result for a treatable or non terminal disorder, family members go, 'oh that's great news!' How do we tell them that for us it is terrible news?

Anyway..sorry, a very self absorbed post! On the plus side, he is so smiley and social and apart from when he has absent moments, he is very much 'there'. This makes me think that a diagnosis this devastating is unlikely. But then I have also read many a story of how quickly things can change with conditions like this. I was just wondering if anyone else has gone through the fear and waiting for terminal disorders to be ruled out. How did you stay sane?

Thank you!

Hi Smiles. My family has been badly affected by mitochondrial disease and I feel for you so much. This period is particularly horrible because my guess is that you'd never even heard of it until now and have had some very upsetting and scary googling experiences. I think doctors do try to hold back a bit until a diagnosis is made which doesn't help. Diagnosing now is at least easier than it was even a few years ago given the leaps in genetic research. Which hospital is testing-is it one of the specialist centres?

There is a support charity called CLIMB - Children Living with Inherited Metabolic Disease-that runs a support and advice line and forum. I cannot recommend them highly enough. Why not give them a ring?

Hi Smiles,

So sorry that you've had such a bombshell appointment. I've put off posting as I can't imagine how you're feeling at the moment, all I know is what you're going through now is what I dread. I do so wish that I knew what to say to help. I will cross everything that it turns out not to be as bad as you fear.

On the matter of genetics though I think its likely that we all (the human race not just us lot!) have some dodgy genes and its just bad bad stinky luck when things like this happen. Outside of my experience with DS1 (GDD likely to be a genetic cause) myself and my brother are currently having genetic tests because both of us were diagnosed with a very rare sort of tumour in our thirties. This type of tumour is so rare that Drs rarely see one in an entire career so its pretty much a certainty that we have some sort of genetic error that has caused it. No one else in our family has had one though, it may be just bad luck that the dodgy gene has had this outcome in the two of us, but obviously I am very worried about the possibility that my children may also carry the gene. No one was to know that there was a faulty gene in my family until now. I think you must try to not worry about it, you can't do anything about your genes but you can do something about the quality of life of your family so you just have to go with that and try not to think about it all too much.

Sorry, long rambling and probably not very helpful post. Thinking of you x

Smiles, sorry you are having to go through this. When ds was first bing tested (around a year old) he was tested for mitochondrial diseases, and spinal muscular atrophy ( a degenerative condition), it was a horrible uncertain time, and all a bit of a blur. I remember not being able to talk to anyone about it, not even on here really. I did talk to my lovely gp though, she made a weekly appointment for me to come in and just cry and talk about everything, it was good to have a neutral space to talk about it, because I just had to get on day to day and didn't want to fall apart in front of the girls or on the school run. We had to wait about 3 months for all the results, hopefully it will be quicker for you.

I agree with Hanbee about the dodgy genes stuff, I think my side of the family has a genetic thing going on with mental health issues there is an awful lot of depression, schizophrenia and bipolar. The geneticist was interested in it all, and it seemed odd to see it all written out in a family tree.

Hello gallons, I hope you find some support here, I know there are lots of people on the sn boards who have struggled with getting a diagnosis for their dcs when they suspect asd or similar.

Hope everyone else is ok. We had our Jeans for Genes day yesterday, and raised £350, which we were really pleased with. It was pretty manic, trying to organise a school playground full of kids into an orderly queue to buy cakes, but somehow everyone ended up with cake and we ended up with lots of money - so all good!

Ds has not been so good, loads of head banging, screaming all day, generally unhappy and just not himself, I don't know what is going on.

Thank you so much for all your words. We are doing ok and I just keep on telling myself it can't be that - he is just such a happy smiley and responsive boy. But then I seem him writhing on the floor, his whole body shaking with yet another uncontrolable full body muscle spasm and I think this has to be something very serious. I guess up and down is the best way to describe how I'm feeling!

We have had a long lead up to this though. We spent over a month in hospital back in April, when the doctors were pretty perplexed by him and metabolic disorders were mentioned as likely. We googled them straight away and came across mitochondrial disorders. They have been a worry for us ever since. At the time, I don't think the doctors were overly focusing on them, as his developmental delay wasn't really taken into account. We knew the delays were there though. He was such an oddity as he initially developed normally (with a few odd symptoms as a newborn) and then when the movement disorder kicked in at 6 months, it all changed. However, it wasn't until he was a year that the delays were really taken seriosly, as our answers to questions like when did he smile, when did he roll, when did he babble etc were all bang on time (as they were before 6 months). So doctors weren't converned about his lack of sitting, crawling etc until he was a year. Now at 14 months he has only gained one skill since he was 6 months old (bearing weight on legs at 10 months) and has lost his babbling, so our fears are being echoed by doctors. To be honest, having these tests is both terrifying and a relief, as if we do finally get a muscle biopsy and it is normal, it will be like a huge weight has finally lifted.

couchsweetpotato - I am so sorry to hear that your family has been so affected by mitochondrial disorders. You are quite right - I hadn't heard of it until recently. One of my aims when we have some answers one way or the other is to do something to raise money/awareness. I work in the charity sector and am surprised given the number of children with wider metabolic disorders that I had never heard of any of them really. I am aware of CLIMB and have looked at their website, but hadn't thought of ringing them. I may well give them a call.

Hanbee and Hazey - thank you for your words and I agree on the dodgy gene stuff. Interestingly I also have both schizophrenia and depression in the family and have wondered if I was a carrier of a gene that is somehow linked.

Hope you are all having a good weekend - thanks again for the support!

had a strange phonecall with genetics nurse earlier, she was ringing to find out if there was anything I wanted to ask the geneticist at a meeting she is having with her next week (it doesn't seem as though we will get to see the geneticist again for ages). I asked if there was any progress about the test for kleefstra syndrome and she said, no she wants to discuss whether there is ever a clinical diagnosis made without it showing up in the genetics tests (although all the results aren't in), she also said that the cheek swab sample had failed again, and they would be unable to get a sample in this way, so they were considering a skin biopsy - as that is the best way to test for mosaic downs syndrome....this rather threw me, as I didn't realise that ds was being tested for this. It seems that he has all the characteristics, and so they need a good cell sample from somewhere other than blood. Very peculiar. She also mentioned another syndrome, and said she wanted to bring that up with the geneticist. It all feels a bit like we are stumbling through a forest with blindfolds on at night and with a map that none of us can read. Feel a bit down about it all at the moment.

Hey its been busy on here. Good luck with move Rum, Hanbee - its really nice to hear hes enjoying the CDC
Hazey and Smiles and everyone - I can never make out whats going on in terms of testing. We had fairly minimal advice pre several tests until they clearly thought things were stacking up for a metabolic disorder (a v nasty lincurable ife limiting one) on the basis of an MRI and some strange bloods. Then we had a 3 hour appt with neurologist and metabolic expert at which they explained in great detail but at the end of that I remember DH and I having a conversation about what exactly was it we knew after 3 hours we didnt know before and concluded that they were probably a bit worried about the hurried way theu had taken consents previously (some just on the phone - they had the blood and would just call to do additional tests with a v quick explanation). So I fugure once that they thought they were close to an answer they realised they needed to have a more in depth discussion with us.

Anyway I felt totally frozen while waiting for the result - I actually just couldnt think about it - it was the worst possible scenario I could imagine. Thankfully we are in the clear on that particular one. I ahve my fingers firmly crossed for those of you waiting on results. Try not to google - I would just weep in front of computer at things that I couldnt really tell were relevant or not.

Hello all

Rumbaabaa - fantastic about ds's eye appointment. Ds has one in a couple of weeks, the appointments are so far apart, it is interesting to see what might have changed.

I have requested an appointment with the new geneticist, it seems ridiculous that she is making decisions about tests, without having met him.

Had a lovely morning here, we were supposed to go to nursery, but my friend who takes us cancelled, but ended up coming over for coffee with her ds instead.The boys spent the morning together trashing the house and it felt lovely to have 2 little boys playing and laughing at each other. I am so glad I have made this friend and that the boys are so similar and get on so well(her ds has a genetic condition with similar issues to ds).

Hope everyone else is ok.

Sorry for long silence, both boys birthdays this week and been feeling really worried about the up coming appointment with neurologist. DS1 ticks nearly all the boxes for myotonic dystrophy and it scares me.

Hug for you Rum dont know what to say apart from really praying for you and hope orange will stabilise

Rum, I know you're on your way to Cornwall and offline for a few days, but hoping Orange is ok, and the meds will keep the seizures in control. Both your and your dh's posts on your blog are just breathtaking, thinking lots of positive thoughts for you all.

Happy birthday to your boys Hanbee, when is the neurologist appointment? The waiting is so hard, hope things are ok.

First, how is your lovely girl?

Hello everyone else!

I posted a thread on the sn board saying this:

We have just been told that Dr Kleefstra wants permission for ds to be part of a study including children who have strong clinical features of Kleefstra Syndrome, but who have had a negative gene test.

After our inconclusive test results last week and the feeling of being in limbo land, this feels like progress. It is not an answer to why ds has the issues he has or a diagnosis, but hopefully being part of this study, means that something is happening.

We are going to be sent details of what the study requires, what is involved and what the research is looking into. We will also have a meeting (at some point in the future!) with the geneticist at John Radcliffe.

Dh can't see why it is a big deal to me, and I'm not even sure myself, but I feel in a better place than I was before the phonecall.

I didn't want to just post it there and not here, as it feels as though we are on another path of the bumpy road!!

Really hope you are all having good days.

Hazey - I can see why it feels like something to hang on to. These things are all so mysterious that it must be nice to have someone with real expertise interested in your boy.

We are dealing with a lot of screaming and late night partying from our girl. Very wearing and a bit annoying as shes perfectly happy at nursery at the moment - her tantrums there have almost died down completely. With my sensible head I know this is far better than if she was screaming at nursery and happy here. But oh god some days....

I had a blip of feeling down when my friends second child turned 1 and I saw him driving a toy train across the floor. I just felt so 'huh? They just do that then?' I keep having to remind myself to hang on to the progress we are seeing and the relief that some of the worse things appear not to be happening as well as congratulating ourselves on the generally happy confident little girl we see coming into her own (in between the screaming fits). A friend visited over the weekend and I think I noticed through her how patient we have managed to train ourselves to be with the odd thing being that patience was never a quality I would ahve said I possessed.