Anyones dc had amino and organic acid testing..and if so.....

[bizzey]

...what happened if they came back "positive"...?

Ds3 is still undergoing ...well loads of investigation for things ...but focusing at the moment on developmental/educational ?delay..or seriously behind .

He is 8 yrs having 1-1 at school and extra external support ...but not making progress. He is being refered for a MRI as well and Ed psyc (at last !!)

Got all this news today and head is in a bit of a spin .

Would be really grateful for some honest advice even if it is bad...
Thanks .

Bump any one ...even if it is hand holding for what they might find with the MRI ?

handholding

!

Hi,
My son had an MRI, think about it a different way, it's not what they might find, it's they are looking for a cause of your sons difficulties. My sons MRI was clear, however he has severe learning difficulties, so be prepared that it might not give your clear cut answer x

We had the same result as 123abby

My dd had this testing as part of ruling out a lot of things, trying to find a cause for her gdd/ learning difficulties. It was a stressful time so lots of sympathy. She had an MRI too which came back clear as did all other tests except she has a small chromosome deletion. So we thought that was the cause then they tested and I have the same deletion so no further forward but she is now in a big study for developmental disorders.

Thank you 123....typical just as i posted on chat I got a reply on here ! Thought it was a bit quiet on here tonight !

I am feeling sick tonight for some reason ...it has all hit me tonight ....I just want someone to say ...he is behind because of this ...do this and all will be fine !!!

I know ...i know !!!!

Thank you 123....typical just as i posted on chat I got a reply on here ! Thought it was a bit quiet on here tonight !

I am feeling sick tonight for some reason ...it has all hit me tonight ....I just want someone to say ...he is behind because of this ...do this and all will be fine !!!

I know ...i know !!!!

Dds neurologist said that they were looking for structural abnormalities so as 123abby says, for a cause of the issues he has already. Is he in mainstream school?

Bizzey - I am in Canada, so this reply might come to you once you have hit the pillow... but can contribute a LOT to this.

MRI - looking for structural abnormalities that might hint at the cause of his challenges. IF the hospital has the equipment, they might do MRS (magnetic resonance spectography) to see if there are any abnormal chemical spikes, as well.

Organic/amino acid testing is to look for evidence of (or clues to) metabolic conditions. One emerging field of medicine is in mitochondrial disease - and many of the hints or answers can be found in this testing.

My DD has had all of these done - with significant results in all of them. Things are a little mad in the house right now (it is almost supper time) but I will answer any questions you have, or help you find info you haven't been able to...

My daughter has mitochondrial disease - and her brother does to. In her (presentation varies greatly) we see autistic features., developmental delay, and a multitude of medical issues...

My thoughts are with you - this is a scary time indeed. If you would rather talk "off thread", please feel free to message me privately.

Thank you all very much....Yes he is mainstream ..yr 4...but I am now having my doubts if he can go into mainstream secondary ?(with his brothers )reading/writing.. -3 years behind ...verbal comprehension ...well what he can concentrate on ...he zones out ....not disruptive ...just zones out when his brain has had enough ?

I am building myself up for these test to give me an answer and problem solved !...

DS3 came back positive for raised Alanine levels, but they are unsure of why.

He has been dxd with hyperactivity (probable ADHD according to the Paed, but he is too young for a formal diagnosis of ADHD).

He is being assessed for Autism in May - but given the fact that he is going to be getting portage and is being recommended for SN Nursery by Education, and she picked up on +++ Sensory issues and is going to be sending him for sensory integration therapy, AND is saying that he has +++ Autistic traits / issues - it's probably a foregone conclusion.

He also has multiple life threatening allergies, including dairy, peanuts, tree nuts, other legumes, soy, pineapple, kiwi, papaya... The list goes on and on!

No more clue than the Paed why he has raised Alanine levels, and the Paed is likely to redo the blood tests when DS3 sees him again in April. If the levels are still raised or have raised further, then the Paed has said he will do further tests.

DD and DS2 have never had this test, NONE of mine have ever had an MRI to look for structural abnormalities. They all present roughly the same though.

I am SURE there are causes for their issues, but DS3's microarray results came back as 'nothing significant detected', and I have been told that I am unlikely to be given access to the FULL report, only just the letter that solely states that 'nothing significant was detected'.

But to me, that could mean that something was detected, albeit small, because otherwise they would have said 'nothing abnormal detected'.

And I REALLY wanted his Karotype, but they won't give it to me. Even if it's normal. Why can't I have it?!

I KNOW there is SOMETHING causing 3/4 of my DC's to present so similarly, and my 4th DC to present similarly but nowhere near as badly.

I just want to KNOW now, DD is bloody 15 and it's been going on since she was born FFS.

Would it be an idea to request an MRI, and maybe that MRS thing? And blood tests to do DD & DS2's amino acids & organic acids?

(Alanine is an amino acid. It's NOT connected to his amino acid based formula as he wasn't ON that formula when the bloods were taken, he was on a protein based formula.)

All I can find in google is that it may point to mitochondrial disorders that affect the liver. Nothing else.

I totally sympathise with just NEEDING answers. After 15 years, and by the fourth DC, three presenting VERY similarly, it's doing my bleeding HEAD IN to not have the answers!

Merrycouthymows, yes I relate to that too. Dd is in the Ddd study not sure if anyone has mentioned it to you? I asked our geneticist about it after someone on here told me and she said she had been thinking of putting dd forward for it. We may not get results for two years and it may not show anything significant but there is a chance, obviously I don't know if your dd would be able to be in it but thought worth a mention.

Bizzey - your DS sounds VERY similar to my 15yo DD and my 9yo DS2, and to a certain extent like my 10yo DS1 (but not as much). DS3 is hard to tell so far, because he's only 25mo, but as he has the attention span of a particularly hyperactive ant, I would assume he is going to go the same way.

School don't even seem to CARE that my DC's don't LEARN (apart from DS1, but he would learn inside a vacuum, presents differently...), because, as you say, they sit quietly in the classroom drifting off, and they aren't disruptive, (again, apart from DS1), they school do feck all.

It really twists my melons tbh, that a lot of schools ONLY help DC's that disrupt the class, and not those that sit quietly, drifting off, not learning.

Merry...thank you (biggg lurker on all treads...and if it is you hope you are feeling ok tonight after ykw !) Thank you for replying ...sooo agree that they forget about the drifters and the quiet ones !

I saw the school report thing today that the pead wanted and I was shocked !!

He is dong ok ...they said at parents evening ......this form the teacher has ticked nearly every thing is (f*ing)every box as very below average !...infact things were ticked that i wasnt aware of ...

Shall I get him to start throwing chairs around ...sorry

DS 1 came down a while i was typing ...straight away said I had put too many * in my swear word !!!(changed it now !)

Arse. I lost another big post. MN keeps eating my posts I apologise!

Used2be - I have forms, half filled in, to register properly with SWAN. They ARE looking to see if they can get us on the DDD study. When I get these forms back.

Unfortunately the Admin department in my house (erm, me...) is a) Shite at Admin b) HATES Admin with a passion, and c) Has more Admin than a Medical Secretary to do..

So it's sitting there half done right now because I have to prioritise and (though I wish it was 36), there's only 24 hrs a day!

Right now, tonight, I'm having a night off. Tomorrow I MUST MUST MUST totally finish DS3's DLA form & photocopy it before I send it off. Also tomorrow I MUST send an email to Grammar school one requesting an appeal for DS1, AND fill in a form for Grammar school 2 to appeal for DS1.

Then that's not forgetting that I still have 2 medical appointments to do this week, despite recovering from surgery!

I reckon I'll get to the SWAN form circa Thursday night or Friday night. Hopefully.

I am drowning in paperwork tbh. I haven't had time to do my filing for over 6 months so everything is just shoved in drawers or in a massive pile on top of the filing cabinet or in the 3 massive pile (s) in my kitchen...

It's impossible to do filing with DS3 about, as he eats my paperwork, tears it up, or draws on it. A hyperactive 2yo + paperwork that you are trying to file is not a good combination...

DS3's bed is in my room. Filing cabinet HAS to live inside the built in wardrobe in my room (nowhere else to put it, overcrowded, tiny 2.5 bed house...). If I try to do it when he's asleep, he wakes up. And doesn't go back to sleep again. At all.

I can't leave him alone because he is hyperactive. No sense of danger. So can't do it during the day or when he's awake.

Ex has stayed here with him for the last 6 months on his access visits because his LL won't let him take the toddler there more than once a month.

So I've had hardly any actual physical TIME to do my filing.

Can you hire a carer just to do your filing?!

Yes, it is me. I am a bit ouchy now - Ex says I had morphine right after, it's obviously effing worn off now!!

Am just waiting to take next lot of pain meds.

Can't sleep through the ouchyness, so am MN'ing whilst waiting for 00:35...

Is it really bad that at one point, I was so far in despair over it all that I VERY nearly told DD not to even try to keep her anxiousness in check at school, I VERY nearly told her that I didn't expect her to behave perfectly at school because I felt that it would be the only way she would get any help?

I DIDN'T, but I really did SERIOUSLY consider it at one point!!

Shows how close to the edge I was when she was still totally unsupported despite being on SA+ when she was still at this crappy with ANY SEN Primary school...

At least it doesn't get that far with her at least at Secondary school.

But the Secondary is FAR less tolerant of Behavioural Issues. They have a zero tolerance really.

It's easy now for them to do so, though - they are an Academy now, AND the PRU is within 5 mins walk from the Academy.

Scaring the shite out of me for DS1, a Grammar school lvl DC, possibly ending up in a PRU because his behavioural issues that ARE connected to as yet undxd Aspergers, where he will achieve nothing that HE is academically capable of.

Bleurgh.

Not having the answers down on paper SUCKS ARSE!!

oh nearlly 00.35 (she says in her helpful way )!!

Oh merrycouthymow that sounds exhausting and familiar with the paperwork! I have a similar filing system to you I think! I have been meaning to ring and sort out my Vodafone account for months but there are always medical and educational phone calls and paperwork, it is so time consuming isn't it.

merry ..hope you are feeling a bit better to day !

I had parents evening tonight...same stuff said to as always ...same wave of nausea !get when I see his school books !!!

Ds quite proud of the fact he is going to have a picture of his brain !! and we are going to practise lying still and stuff !

I haven't told him about the bloods yet as that will freak him out ....he is still waiting for them to put the blood back in him that they tested on the last time !! [griin]

Thank you all for your kind words of help

Almost finished DS3's DLA form. An just about to photocopy the entire form for my records, then it can be sent signed for in the morning.

Have I mentioned that I HATE admin?!