Undiagnosed son suffering for 7 years

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The Gaul

Joined
Jun 17, 2016
Messages
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Hi

to cut a long story short my son has had serious abdominal pain and distension since he was 7 he is now 13 he has been largely disregarded by health professionals - however a Dr at GOSH suggested that certain blood tests should be carried out blood purine & plasma lactate - despite me asking for these to be done on several occasions they weren't so I paid privately for them

I got the results back today and only one of the results are out of range I wonder if this has any relevant meaning can anyone assist?

Thioguanine nucleotide



6-TGN: *<100 6tgn/ 8X10^8 [235-450]
6-MMPN: <100 6MMPN/ 8X10^8 [<5700]


comments


6-TGN [235-450] = MAX DRUG EFFICACY
6-MMPN [>5700] = INCREASED RISK HEPATOTOXICITY



Other Tests


LACTIC ACID 1.2 NMOL/1 [0.5-2.2]


Does one of these being out of range amount to anything remarkable


hope someone can help
 
He is taking nothing cannot tolerate pain meds as add to constipation
He has had a transit study whereby markers still in the ascending colon 7 days after ingestion

Now for the sad bit !!!! He hadn't had a bowel movement for 25 days so took him into a&E as he had few bowel sounds which were almost inaudible after serious laxative approach he achieved a movement at day 43

I asked them to do colonoscopy which took 2hours??? no one has told me why

5 days post procedure he had strange feeling in his legs 10 days post procedure he couldn't walk his feet primarily hurt too much well that was 7th March and he has been unable to walk since

so I tried to get him a neuro review at GOSH which was rejected but doc said try these blood tests for rare bowel disorders as hospital wouldn't do them I had them done - but it doesn't make sense to me as they relate as I read it to drug therapy and he isn't taking anything

maybe he requested the wrong tests?
 
I think the lab may have run the wrong tests as this is what Doc suggested

blood purine screen to test for Tymidine & Deoxyridine levels

But from my google reading the results above are for recording drug therapy efficacy am I right?
 
Yes you are right the tests you have results for are to determine levels of a certain med in the system. The med being a thiopurine, 6mp, used for people that have CD.

If he is still having bowel trouble is there any way you could have the results of his other tests (scope, transit test, along with all medical records) reviewed by another pediatric IBD facility?
 
Yes, those would be if he was on 6MP or Imuran. Do they believe he has a motility disorder?
 
That would be typical the lab running the wrong tests ! given it cost me £210

So guaranteed they will want paying again to do correct tests.

He has had these bowel issues since 7 up to that time he was a perfect happy boy. He is in pain all day every day worse at night. his bowel movements are so intermittent don't think he has been since 30th May and quantity of which isn't remarkable this is what he had to finally get him to go at day 43

1 klen prep 3 chemical (hospital enema's) 1 olive oil emena, 3 picolax, 240 movicol and 40ml liquid senna -

I asked to go to GOSH for a second surgical opinion and she was LOVELY explained that I could not / would not go back to original hospital and she has asked copies of all original reports to review and then is going to ask if they will accept an internal referral to motility clinic fingers crossed.

But there is something wrong and a strong family history of autoimmune disease and so in the back of my mind I think that may have something to do with it but all doc's have sort of forgotten about his stomach and are only addressing his legs - I can't watch him in so much pain it's breaking my heart and you can imagine what things are like for him having to be put in and taken out of the bath by his dad needing to be dressed from the waist down etc...etc...

And the worst thing nobody has told him why .
 
Is he on a regular diet ?
Is he on formula only ?
Do they give him laxatives daily to move his bowels ?
Have they tried pain programs for amplified pain ( no meds )?
I assume gosh is great ormond street hospital in London /uk ?
 
He's been on low residue diet since March
I would like to try liquid only but difficult to achieve with a house full of other children
Yes 2/8 movicol a day
No pain programs never heard of that
Yes Great Ormond Street

It just doesn't work nothing works he hasn't had a full day in school since 29th January
 
Is there anywhere they could refer him to if they don't know what's wrong?

I would also ask about pain management -- I do think there is a pediatric pain program in the UK but I'm not sure where. My daughter attended one in the fall. It is intensive PT/OT and psych to help the child cope with chronic pain.

There were two kids there who had come in completely unable to walk and in wheelchairs and left walking/running completely independently!

It does sound like there is something wrong that they need to fix -- some sort of motility disorder perhaps? Going 43 days without a BM is crazy! Have they tried any motility medications -- I know Domperidone/Reglan/Erythromycin are used for Gastroparesis (delayed gastric emptying) but I don't know if they are used for lower bowel dysmotility.

Have you tried a TENS unit for pain? Or other medications that are not traditional pain meds and work on the nerves - Gabapentin, Lyrica, Elavil etc.?
 
Gabapentin has been suggested by many people however doc never prescribed they gave him amitritolyne which made him unreasonable moody and severe headaches.

He was in PT at original hospital where they told him to stroke his feet with cotton wool
But I started him on low dose aspirin and his movement got much better hasn't changed the pain but his legs know how to walk again thank god we are with a different pt now who is pushing him really well but is totally ignoring the fact he is in so much pain I am more than 100% sure his legs are down to mononeuritis multiplex due to micro clots as my family has a horrendous clotting disorder history. And test for blood clots at the time was 7x the top normal range but hospital ignored it - it has been an uphill battle all the way.

But this doesn't explain his bowel unless micro clots are interrupting the blood flow to the bowel causing it to be slow - or its something totally different there is no continuity of care here no one wants to invest time in finding out whats wrong they are just happy to leave him like it and tell him to pile himself to the eye balls with laxatives

LOOK

https://www.youtube.com/watch?v=0wuXA-1vBzE

AFTER ASPIRIN

https://www.youtube.com/watch?v=0KM56OPlCVQ
 
Last edited:
I'm open to all suggestions he hasn't eaten for 4 days and hasn't slept either he has no pain relief- and to top it all doctor said he maybe suffering from malnutrition - for goodness sake why won't anyone help him
 

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