How do you cope with not knowing eactly what is wrong with your child?

[justdontknowanymore]

Hi,

Have changed my name, but have posted here before, and on TTR.

Am having a hard time dealing with things at the moment.

DS2 is developmentally delayed, but that is as far as a diagnosis goes. He has had a whole range of tests, some quite invasive, but all are negative / normal except for a slightly abnormal respiratory chain enzyme result.

All the doctors we have seen, including neurologists, neurophysiologists, community pediatricians, endocrinologists, audiologists, GPs, say that he is a "mystery", "complex", or other words which say to us that they don't know what is actually wrong with him.

He has had a whole range of therapies, and they are helping, but drs are generally negative.

I am very concerned for his future, and the future of the rest of the family, as not knowing exactly what is wrong, nor having a diagnosis, makes it really hard to know where to look in terms of treatments / therapies that may help him.

Is anybody else in this boat?

How do you cope with the constant not knowing, constant negativity, constant "interventions"?

Thx

do you post on special kids in the uk? quite a lot of families in the same boat who've been doing it for a fair few years - from tinies to teens - apols if you're one of them...

No I don't, thanks for the suggestion. Will take a look.

DD has GDD and is also undiagnosed, but it's not such a problem for me as it used to be, as she is (touch wood) healthy at the moment and seems to respond to OT, phsyio, portage, SALT, etc. I think it's a grieving process. I didn't get the DC I expected--the one who should be talking by now, eating well, running around confidently, and understanding the nursery routine. So I grieve for the loss of her whilst appreciating the unique, unpredictable DD I have instead.

DS has a whole list of things that are "wrong" with him. but no formal single sentance diagnosis.

now when people ask what his SN is i say that he has George syndrome. if qhat he has is so unique they an't find a name for it then it may as well have his.

he is the same child today as he will be tomorrow if they give him the magical rubber stamp of a dx.
there's no point stressing over it.

I just don't understand what is wrong with him, hence the need for a dx.

The latest dr (from GOS) talks about him having symptoms similar to Parkinson's Disease, something wrong or abnormal with the extrapyramidal system. He also talks about dyskinesia and spasticity (that one word I do understand!).

I am having trouble accepting it. I keep asking why him, why us? Especially when just this year his brother has learnt to swim, ride a bike, and read (he's 4).

I am just so so unhappy.....

Sorry not showing off. It just seems everything has come so easy to DS1, and everything, right from when he was born, has been so hard for DS2.

It's just so unfair!

I think one advantage of not having a diagnosis is that doctors etc will look at the child as a whole. This year I tried to ask crap different paediatrician about movement disorders as I think ds1 might have one. his usual paed is very good, but this one just saw 'autism' and looked at me as if I was mad. Anything weird he does is just labelled under autism - never mind that I have never seen another autistic child do what he does and friend's with autistic kids say 'what's he doing?' when he does it!

I guess I'm trying to say that even with a label you still don't necessarily get answers. Or even an indication of therapies. 90% of therapies aimed at autistic children are completely unsuitable for ds1 as they use too much language or assume skills that he doesn't have, or assume metabolic problems he doesn't have, or ignore ones he does have iyswim.

I do think with or without diagnosis it gets easier as your child gets older as you get a clearer idea of who they are and what they need.

(If you're the person I think you might be did you get the dreadful quality video- I have a new one of decent quality shot last week which shows the movements and I have worked out how to get it online - I can upload that if you want.)

I've been having moments like this as well. DS on the whole is happy and healthy, though has GDD (all areas delayed) & some other things wrong... but no formal diagnosis yet. At the moment it stands at significant GDD, hypotonia & microcephaly. It certainly doesn't explain everything about him, and so far they are still throwing all the therapies at us, and trying to figure out some of the other things.

Similar to your ds we've had a 'diagnosis' early on of psudo-dyskensia, have had cerebral palsy mentioned, and autism. Nothing is set in stone yet, and as he's changing with time (some things not for the better!) they go back and forth with their thoughts on what he might have.

Luckily we haven't had any really invasive testing. He's had an MRI, EEG, various blood tests, but that's about it. We're off for an endoscopy and biopsy in a few weeks, but it is something that really is necessary.

We have 3 other children who are NT, and it's so hard watching them try to interact with him when he just isn't with it. Our SALT just started us on Makaton which isn't working in the way she thought it might, so we're having to re-think the whole thing. Some therapies work better than others and I think it's really up to us to guide the 'therapists' sometimes!

Most of our doctors are fairly positive, but we have had a handful which I'd rather not meet again. I'm not sure if any of this ramble is even relevant to your OP, but we're in the same boat.

Ds1 doesn't have a set diagnosis of autism or aspergers. We've been told that he's definitely on the spectrum and he gets a place in a special school and DLA (mid rate care) because of this and that's more than good enough for me. I don't want to spend ages nitpicking over whether he could be considered classically autistic or atypically autistic. All that matters to me is that he gets the help he needs.

I know DS is developmentally delayed because he has brain dmge (cannot even bring myself to write the word), but I have no idea why it happened in the first place.
I am terrified of the day when I will have to explain to him why he has to cope with so much, I wish I knew the reason, I think it would have made it easier for me to tell him how/what happened.

I really hate not knowing. What am I supposed to tell him? I don't want to lie to him, it is bloody hard.

We have seen one pediatrician, and she was dreadful.

We have so seen so many specialists, but have not seen anyone who seem capable of putting it all together. We would really like all the specialists to spend 15 minutes in a room together, and maybe they could nut something out.

I know what you mean about being alone, and not knowing where you fit, I think that hits the nail on the head.

I'd so like to know what caused all this, learn why it happened but kjnow that so often, in most cases, there's no explanation (one dr told us ds was just a "mistake").

I looked at Special Kids but the forum is huge and don't know where to start with it...

Oh and Jimjams, don't know what video you are talking about....

I know it's going to be a lifetime of battles. WE have to see said community pediatrician in two weeks and know it's going to be awful, and yet another set of battles are going to be unleashed. Some drs seem to be on DS's side, this one right from the start we knew wasn't.

He's 20 months.

I saw my pregnancy drs a couple of months to see if they could shed any light on the delivery or my pregnancy, and they said they hadn't seen GDD as a result of a pregnancy / delivery like mine before.

I had seriously been blaming myself, and it helped for a while, but now I'm back in the dark place again.

Thanks for all your responses, they help.

FF, I have a condition that needs to be closely monitored before and during pregnancy. They are a leading hospital, and do have a special antenatal clinic for women with this condition. They are very experienced, and even so, hadn't seen an outcome like this.

He has had an MRI, which has been reviewed by doctors at several hospitals, and it is "normal".

We have seen a geneticist, who basically told us that we had seen them too early. They examined him very closely, he has no dysmorphic features, and told us that we can't be tested until he is dxed with something so they know what to test for. His chromosome array (?) was normal.

sorry jdk - I was thinking of someone else (with a child with a similar list of ticks on a sheet iyswim).

No worries.

I haven't much to add but just want to send you some support especially re the dark place. I have to be strong for my whole family and it's exhausting and depressing. And I don't know anyone in RL who has an undiagnosed child with GDD, so I often feel isolated, too.
Are you anywhere near London, justdontknow?

Thanks for your support Arabica.

I am in London, not too far from you actually...

he's still quite little - we had no dx until two and she was officially a medical mystery until they just dx on presentation - i think before two they are unsure whether a formal dx would be appropriate so they hedge their bets and say developmental delays/ movement disorders etc. when was the first MRI done? our first was allegedly normal, but we had a follow-up done (when she was 4) whilst they were bickering over alternative dx and it quite clearly showed brain damage received at birth. MRIs are notoriously unreliable if done very early as the damage isn't clear.

don't panic about the special kids in the uk forum size btw - just join and post a 'hello' message on the 'general' board. you'll get loads of replies. or use the search facility and put in 'no diagnosis' or 'no dx' and i'm sure loads will come up.

it gets easier, honest x

justdontknow, did we email each other a while back? When you had a different name?

Yes we did each other a while back....from memory it was around the time your dd had her grommets inserted.