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Never getting a definitive diagnosis

(22 Posts)
TalesOfTheUnexpected Fri 02-Sep-11 09:40:33

I'm sure this has been covered many times before but I'm relatively new so be kind grin

My boys are coming up to 7 years old and despite years of tests, no-one has been able to give me a diagnosis of why they have the problems they have got. They've had muscle biopsies, MRI scans, blood tests, chromosone testing, genetic testing, lumbar punctures. And after ALL that, I don't have a reason why they are like they are.

I just feel a bit "cheated". Not the right word, but it's frustrating.

I also wonder about my NT daughter. What are the risks of her having SN children? If I had a diagnosis for the boys, maybe it would help?

Am I making any sense at all?

StarlightMcKenzie Fri 02-Sep-11 10:05:33

I can understand how hard it must be. Those of us with dx had periods (often long) of time when we were in limbo-land. I think there is a relief when you get a dx, but I don't think it is as huge as you might imagine.

Also, with dx comes sterotypes and assumptions and actually, I have found having a dx limits people's expectations, and although you think it should or might, you never get a prognosis.

Without a dx your children could be anything, and that offers hope as much as it does frustration.

auntevil Fri 02-Sep-11 10:23:11

I do know what you mean You start thinking that there must be someone out there that knows the answer. So you google yourself silly trying to find all the information that links with symptoms - jump at any chance that a new test will mean an answer. Been there - still there!
An older relative said to me that in her day, you just didn't have the access to the level of information and research that we have today, so you didn't feel that you were missing out on dx and accepted that there was no answer/cause.
She wasn't saying it in a negative way, but that if these advances have been made in 1 generation, the next generation may not only have the answers, but maybe some 'cures' Which is probably how I would look at it from your DD's point of view. The technological advances in the next 10 years or so could make a huge difference to outcomes - socially, medically, genetically etc

TalesOfTheUnexpected Fri 02-Sep-11 10:50:29

starlight thank you. I needed to hear a different point of view. I'd never really thought that having a diagnosis may be more hinderance than help in some circumstances.

aunt thank you also. I've stopped the Googling (mostly) grin and there are no more tests to be done. My Mum also made the same observation, that years ago you just had to accept this type of thing.

I guess the main sticking point for me is, they are both boys, non ID twins. Both have an eyesight problem which is meant to only affect 1 in 60,000 males. But I have 2 boys with that eyesight problem? What's the odds on that? Add to that, they both have learning difficulties and other problems.

I just feel there is something, some reason.

However, going round in circles here and coming back to what starlight said....would a diagnosis just stereotype them?

Well, I suppose I'll never know. Just have to get on with it.

StarlightMcKenzie Fri 02-Sep-11 11:22:08

With no dx, perhaps they will look at your children's ACTUAL strengths and weaknesses without making blind conclusions that they are, for example 'visual learners' because their training on your child's disability tells them that they majority with the dx are for example.

I have not had to live with what you do though. Our limbo land was a transitional and temporary place. I have no idea what is in store for you, but there are others like you on this board so they might be able to share with you how they cope with it.

BagdadCafe Fri 02-Sep-11 11:31:05

We are similar except twin1 has chronic eye inflammation + derm + neuro; twin2 is a different genetic type.

Took 3y off life trailing round for DX, talking to specialists NHS and private. We are now open-door in tertiary referral. Used to get up 2am onwards to do internet research. Joined internet forums. Still no DX, although I have my suspicions and follow current research on neuro + inflammation.

In case it helps you unexpected , I am at peace if:
she and I can manage the conditions daily, adjusting meds as needed
we know where to go if we need medical help
regular follow-ups in eye clinic with familiar staff
open-door + notes with neuro, neurosurgery, derm consultants
GP will refer anywhere I want NHS or private
£ there to pay for private consultations when I want them
pharmacist sources the specialist refrigerated eyedrops

The disadvantage of not having DX has been for school and activity clubs. They want: care plan, medication instructions, consultants' letters. Also school attendance has been 'unacceptable' without this (<80%) when I keep her home for observation/travelling for appointments. Also she cannot have extra exam time if she cannot see without DX and the condition fitting national criteria - she is not partially-sighted, she has no tear film.

I want this to be reassuring and send you my love and support. We are coping without DX, enjoying the life she has, relishing what she can attempt and achieve with these restrictions - music, nice friends, happiness.

It is most important to accept and love the boys for who they are, and ignore anyone else's daft negative criteria. It takes all sorts to make a world and we all have contribution. The most compassionate docs and teachers know this.

1980Sport Fri 02-Sep-11 14:57:10

Hi - another one here with no DX. DS is 2.8 with severe GDD believed to be caused by a chromosome disorder. Just in case you haven't heard of it - there is a project run by the Genetics Alliance called SWAN, syndromes without a name for families with undiagnosed children. It's most active on Facebook but does have a website with a forum!

dolfrog Fri 02-Sep-11 15:48:28


Until the age of developmental maturation 7 - 8 years old there are very few issues which can be clinically diagnosed. If there is family history, genetic links, to some type of clinical disability, then you may be more successful in having a summary diagnosis.
Until the age of maturation 7-8 years old children can grow out of these types of issues as part of their own development process. We all develop different abilities and skills at different ages and at different rates. After the age of maturation any remaining developmental problems can being to be considered a clinical disability, which can have a clinical diagnosis.
Some issues such those who have the complete diagnostic criteria for a diagnosis of Autistic Spectrum Disoders (ASD) can be diagnosed earlier from the age of 2 years plus.
But most children will not meet the full criteria requirement for an ASD diagnosis and may have one or more of the wide range of disabilities and disorders which can combine to cause ASD. These issues will only be clinically diagnosed individually after the age of 7 years old , which is where your twin are now.

I do know where you are coming from we have had 3 DSs who have a relatively newly recognised condition, which very few are aware. It is made worse because it is a communication disability, which both my DW and I share with our DC

cornsilksi Fri 02-Sep-11 16:15:21

ds doesn't have a dx but has the support that he would have if he did have a dx (statement, specialist placement)

TalesOfTheUnexpected Fri 02-Sep-11 16:38:53

Bagdadcafe thanks for the reply. Each of us with SN children are different but it helps me a lot to hear what other people think or are experiencing.

1980 Sport thanks for the info on SWAN, I will look that up shortly.

dolfrog thank you for the detailed reply. My boys eye condition was noted at 7 weeks of age but only diagnosed (one of them) 6 years later. It's highly suspected the other boy has the same eye condition but it just can't be confirmed yet due to his lack of co-operation in the tests.

Anybody reading this who knows me, please don't "out" me, but to be specific, my non-id twins have:
- ocular albinism and nystagmus (partially sighted)
- global developmental delay
- speech and language delay
- one has A.L.L (Acute Lymphoblastic Leukaemia)
- the one with leukaemia has just been referred for autism assessment (it was meant to be done 2 years ago, but he got the leuk and the assessment was deferred)

Ok, the leukaemia is a random thing, could have happened to anyone.

But I just think there's something, some name out there for what they have.

TalesOfTheUnexpected Fri 02-Sep-11 16:42:51

I meant to add that their learning difficulties/delay are definitely not linked to them being partially sighted. Most other children with Ocular Albinism attend mainstream schools.

glimmer Fri 02-Sep-11 18:01:32

I guess one always wants to be in the other situation, but I actually would prefer
not to have a DX, because of the labelling and limitation of expectation it comes with. DD is performing on the high end of DX (genetic disorder) and no doctor would have thought she would get to where she is. We actually keep the DX secret with the aim of delaying her being labelled and encountering limiting expectations. That's certainty a two-sided sword, I am not recommending it.
But I agree about a DX making admin things smoother. We just have to wave the DX and get anything we want.
I do understand the concern for your DD - but if she wants this knowledge she can get genetic counselling when she is ready to have children. She might prefer not to know if this makes sense.

1980Sport Fri 02-Sep-11 18:57:04

<waves to Glimmer>

Goodness Tales - you've a lot to deal with. How's the treatment for the leukaemia going? I too am desperate for a diagnosis although I don't think it'll affect DS's treatment or access to treatment as his delays are so severe it can't be suggested that we wait and see how he gets on! I think over the last 2 years my reasons for wanting a DX have changed - initially it was 'this will tell us what's wrong' then gradually it changed to 'it'll help us have somewhere to fit in and help us explain to others' but now knowing that its likely to be so rare it'll not actually mean anything to anyone else - I'd really like just to know for us (me and DH) so we can say well it's this little bit of missing chromosome that did the damage, I also hope it'll help us make our decision regarding having more children and maybe give us some idea of what the future might hold. I accept what the others are saying about no limitations or a lack of expectation but the unknown can be so frightening (esp to a control freak like myself). I'd like to be able to prepare myself a little for what lies ahead!

1980Sport Fri 02-Sep-11 18:58:02

Has Deciphering Developmental Delay been mentioned to you?

BakeliteBelle Fri 02-Sep-11 19:09:49

DS is 15 and is still undiagnosed though he presumably has a genetic sydrome. We are about to take part in a research project that Guys are doing to try and improve diagnosis. If it is still open, you would need to be referred through your child's paediatrician i think.

I feel your pain. I always get a bit annoyed with parents who have diagnosed children, who ask me why I want a diagnosis. The main reason is because I want to be part of a group, just like they are! It might be a huge group, like DS or ASC, or an obscure, chromosomal abormality group where there are only two children with the same condition in the world. How fantastic to know one other person with the same condition! It's very lonely in undiagnosed land. It can also open up training opportunities.

I also want to know if there is a risk to my children's children. At the moment, I just don't know, so we have to presume there is. I don't think I will ever stop pursuing a diagnosis, but I am much calmer about it and of course he will be the same son with or without a diagnosis. I just might get to feel connected with someone else out there

BakeliteBelle Fri 02-Sep-11 19:10:44

A diagnosis can open up training opportunities, I mean, not being undiagnosed!

1980Sport Fri 02-Sep-11 19:18:33

I don't think I will ever stop pursuing a diagnosis, but I am much calmer about it and of course he will be the same son with or without a diagnosis. I just might get to feel connected with someone else out there

That's exactly how I feel too!

pedalpants Fri 02-Sep-11 19:42:12

really interesting thread. we now have a diagnosis (rare genetic problem) and although i'm extremely sad about it, knowing about it brings a resolution of sorts. however, there are some effects which may emerge in adulthood so we've got plenty more years of worry ahead. genetics is so complicated isn't it. surely with two non-ID twins there must be scientists queuing up to study you?! I'd imagine with the eyesight thing it sounds genetic. is there any family history? you say the leukemia things is not linked, are you sure? what are your instincts?

I have an NT child and I do worry about our (potential) grandchildren. however, the condition is inherited in 'variable penetration' which means not everyone gets it, or some people are only affected very mildly. I almost certainly carry the gene (they won't test me - too expensive) but I'm so NT its unbelievable. I think the way the gene expresses itself is something to do with the interaction of the genes and the environment, which is why I'm also interested in diet, exercise, family environment and so on.

Bagdad - found your post very moving, thanks.

used2bthin Sat 03-Sep-11 08:20:58

Hi all, another with out a diagnosis as yet for the delays. Well we have SLI and she also has a genetic condition which was diagnosed after birth but it isn't the cause of her learning difficulties or microcephaly or possible epilepsy. She has just been found to have a small deletion on chromosome four but there is just one other child with the same and they don't have exactly the same symptoms so it won't really help us with prognosis or cause but perhaps long term will be of use to someone as the database grows.

We have had so many tests this year and still got an MRI soon. I have been hoping for an explanation or definate diagnosis like I had the first time, its really as if I want to feel that sadness and just accept it but maye I wouldn't anyway. I am beginning to believe that we will never have a clear cut answer-for example the MRI may show that dds brain doesn't work as it should but we know that already! I agree that it would be easier to explain to others with a diagnosis though, and as DDs behaviour is getting trickier and more obvious in public, I would like a quick answer for anyone who thinks it is parenting.

Hi pedalpants we spoke on my EEG thread, I think you didnt have a diagnosis at that point, hope you are ok and I am interested in the combination of environment and genes stuff, my dad keeps saying similar.

TalesOfTheUnexpected Sat 03-Sep-11 08:48:06

So nice of all of you to reply.

1980Sport Leuk treatment is going very well. 2 years down, one to go. Hopefully, after that, he'll never get it back.

Deciphering Developmental Delay has not been mentioned to me. I'll Google later.

BakeliteBelle I think you hit the nail on the head there. I want to be feel more connected. I live a very solitary life anyway as a single mother and I do especially worry about the implications for when/if my NT daughter has children.

pedalpants The Genetics people basically said they would investigate further if my boys started to regress (i.e. lose existing skills). They did write to some specialists about the muscle biopsy results which showed some abnormality, but no-one responded apparently! Charming...

The eyesight thing probably is genetic but my ex and his family were very cagey about details of who may or may not have had problems on their side of the family. My ex-FIL always said it was my fault!

The Leuk, again, I'm not sure. I keep a close eye on the other boy for any symptoms. My gut instinct initally told me "oh god, he'll get it as well", but I had him tested and he was clear. I keep a close eye on him though.

Just to add, overall, thanks for the replies. I don't think I'll push for any more testing unless regression presents itself. I know we all love our children so saying "sorry" we're all in this SN boat isn't the right thing to say, but you know what I mean I hope.

used2bthin Sat 03-Sep-11 09:34:35

Do know what you mean. And having been a single parent until recently it is bloody hard work with appointments and worry so this and other support groups kept me going.

When you are not together genetic things are harder to deal with IMO. DD's dad and I still have this undercurrent of both being defensive about how dd got her issues, but I actually laughed when I was told SLI can be genetic as everything DD has has a genetic basis.

Lots of luck with it all x

dolfrog Sun 04-Sep-11 06:30:05


I put together a couple of samll research paper collections which you may find useful
Acute Lymphoblastic Leukemia (ALL)
Albinism - Oculocutaneous and Ocular

You may also find my Speech and Language Pathology may also provide some useful information

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