Down's Syndrome and Autism and possible Thyroid problems

[Whatawoman72]

My son is 25 years old and has Downs Syndrome and Autism and has been very poorly the last couple of weeks. He has had a week in hospital and discharged with constipation and gas in his abdomen and bowel.... dr was dismissive. Saw our own dr the same day who apologised for the hospital and said his symptoms SCREAMED thyroid problems and he didnt understand why they did multiple blood works but didnt do a thyroid investigation.

His symptoms are hard to recognise as he does not normally react to pain - he needs a secondary sensory symptom like swelling, blood, bruise etc -  to tell him he should be in pain. However for almost three weeks he has had an extremely bloated belly and holds it saying it hurts right below his sternum down to his belly button. He is continually burping Hospital gave him antacids and laxatives. He eats ALL the time -  anything and everything -  so fridge, cupboards and the kitchen have to be locked -  yet he is struggling to eat the last few days -

This is what I have noticed....
Changes noted in the last 2 months - progressively severe.

15lb weight gain since 9th September
Increased lethargy including sleeping in the day. (normally sleeps 3-4 hours a night only)
Dry skin, increase in psoriasis on his scalp
Sudden awareness of cold. (nevr been able to tell hot from cold till last month - noticed drs hands were cold)
Lack of interest in usual activities. (very tired by 2-3pm and no interest in activities he loves)
Neck seems swollen - he has lost his jawline.
Has spells of lower pulse rate – 50-65
Bouts of constipation and diarrhoea
Constant throat and ear infections
Deeper sounding voice
Periods of very slow processing
Seems miserable a lot and keeps saying he feels sad

its heartbreaking to see my mischievous lovable rogue reduced to this sad young man.....

Could this all JUST be thyroid problems?

[Barb135]

I hope they did "Free" T3 and "Free" T4.  If it's not specified on the lab sheet, then it's total T3 and total T4, which aren't very useful.  

How is your son feeling, since he's been on the antibiotic?

[Whatawoman72]

Finally last Tuesday they did the T3 and T4 test -  still no results.

[Barb135]

I wish him the best of luck.  It's so hard to see our children in pain.

[Whatawoman72]

Thanks Barb, he started the antibiotics yesterday so hopefully by the weekend we will see some improvement.

I will talk to the dr again about the Thyroid as many of his symptoms fit it and I think once we clear up this bacteria bug we will see what symptoms he still has.

[Barb135]

According to what we've heard from other members, labs are not supposed to do Free T3 and Free T4, without special permission from the NHS, even though the doctors orders them.  I do hope your doctor can get the lab to do them.

Wow - H. Pylori; odd that they didn't find that sooner, but I guess, better late than never.  Has David already started on the antibiotics?  I do hope they work.  Did they tell you that once he's off the antibiotics you should give him probiotics to help restore the healthy bacteria?  Antibiotics kill off all bacteria, including the ones we need to aid digestion and metabolism.

Wishing him best of luck, but don't completely let go of the thought that he might have a thyroid condition, as well.  I did notice that only one of the 2 thyroid antibodies was performed.  To diagnose Hashimoto's, both TGab and TPOab have to be done because some people have one or the other; some have both.

Best of luck....

[Whatawoman72]

OMG OMG OMG Looks like we have found out what is wrong with David - His last blood test has come back positive for H Pylori Bacteria -  symptoms include bloating, indigestion tummy pain central below the ribs (right where he was pointing), fatigue, sickness, diarrhoea........ possible complications are ulcers and stomach cancer. I'm presuming he has a bad case to have been in so much pain for so long when he does not normally feel pain...... It has been 3 months that I have noticed changes in him and a month that this pain has been so bad for him....... so 1 week of 2 strong antibiotics and he should be better.......Im so hopeful and excited that this is what has been wrong..... keeping referral to gastroenterologist just in case.

[Whatawoman72]

Yet again the lab didnt do the T3 and T4 as the TSH was normal
TSH - 2.97miu/l  (lab range 0.40 - 4.00 miu/l)

They did the Thyroid/peroxidase antibody level test.... came back 35.4 (lab range 0.00 - 60.00)

Everything else came back normal - so he has been refereed to a gastroentologist in the first place to find the cause of his abdominal pain and bloating and to do a coeliac biopsy despite the antibody test being normal too.

Im going crazy with worry and getting nowhere as he is mystifying doctors and we cant seem to get the lab to do a T3 and T4 test - the dr is calling the consultant at the lab to ask why.

[Barb135]

Have they checked for thyroid antibodies?  If not, you might ask the doctor to do those.  They would need to do, both, Thyroid Peroxidase Antibodies (TPOab) and Thyroglobulin Antibodies (TGab).  They need to do both, since a person can have one or the other, or both.  Presence of either of these antibodies would warrant a diagnosis of Hashimoto's Thyroiditis, which ultimately, leads to hypothyroidism as it destroys healthy thyroid tissue.

With Hashimoto's, it's not the least unusual for symptoms to be present, long before thyroid blood tests (TSH, Free T3 and Free T4) indicate a problem.

Do be sure to get a copy of the T3 and T4 tests, so you can post the results, and reference ranges for us.  I do hope those are Free T3 and Free T4, otherwise they won't be nearly as helpful, but will be a start.  

[Whatawoman72]

Well they have said Coeliac antibodies negative, bone, liver, renal , red blood ****, white blood count and plasma glucose all in normal range..... Im going crazy with worry. He is so classic with hypothyroid and having that means its treatable and managable and he will look, feel and act better.....
Seeing GP again tomorrow morning and hoping that she will have the T3 and T4 results as nothing else is showing up and he is no better. :(

[Barb135]

Yes, unfortunately, NHS requires that requests for T3 and T4 be ignored if TSH is normal.  Even more unfortunate, is that many patients remain undiagnosed with hypothyroidism, because they really don't have enough thyroid hormones, even though TSH says they do.  

TSH is actually a pituitary hormone and studies have shown that it doesn't correlate with symptoms at all; it neither causes, nor alleviates symptoms, yet the medical community has deemed it the gold standard for thyroid testing.  Much better and just as inexpensive to do the actual thyroid hormone tests,  Free T3 and Free T4, then you know.  Adequate thyroid hormones are essential for, virtually, every body process.

Good that the doctor is pursuing other issues; hopefully, the tests will show something; if not, maybe she'll be willing to revisit the thyroid issue.

Yes, it's very heartbreaking not to be able to provide relief for your child.

[Whatawoman72]

Private wont touch him because of his Down's and Autism -  but the GP we saw last night was very reassuring that she wont stop looking till they find the cause -  he had 7 more viles of blood taken yesterday.

Apparently it is lab protocol that if the TSH is normal they disregard the test request for T3 and T4 !!! so the dr has requested they do both tests-  testing for Coeliac antibodies, liver and renal function, ferritin.B12, Folate, plasma glucose, full blood count, ESR, -  so hopefully the next few days something will come up.

He is so poorly its heartbreaking not to be able to get him some relief.

[Barb135]

Best of luck to your son.  Not all tests that fall in the "normal" range are really normal for the individual.  

You'll need to be  a strong advocate for your son; we've had members who simply insist on copies of their labs; and yes, doctors in UK seem to be most reluctant to provide copies.

We've had some members who have had to go private in order to get adequate testing/treatment.  Is that a possibility?

[Whatawoman72]

Just had a call to say all thyroid tests are normal! whatever that means!

I feel sick with worry.

Seeing dr at 3.30pm

[Whatawoman72]

Very difficult getting reports when you are using NHS -  so will have to ask if they will print them for me -  they are very reluctant for some reason.

Im not sure which they tested for as I knew very little about Thyroid problems or testing before this.

[Barb135]

Were those Free T3 and Free T4?  They aren't the same thing as just T3 and T4, which are actually, tests for total T3 and total T4, which are considered obsolete and of little value.

When you get the report it should say exactly what they are.  Once we see the results and reference ranges, we can better advise.  

Yes, gas and bloating can be thyroid related, but always good to rule out other possibilities, as well.

[Whatawoman72]

Dr had tests for TSH, T3 T4 and Thyroid Antibodies done on Saturday -  we are awaiting results -  he had an abdominal scan done and everything came back clear except an extensively excessive amount of gas in his abdomen and bowel.
The dr said his belly pain and swelling is indicative of his thyroid not working at all....

[Barb135]

It's  probably not ALL thyroid... have they done ultrasound on the gall bladder?  The bloating from sternum to belly button sounds a lot like when I had gall bladder attacks, and eventually, had to have my gall bladder removed.

I know you are in UK and we've seen a lot members from UK who can't get adequate thyroid testing/treatment because of the NHS guidelines..  Ask your family doctor to test for Thyroid Stimulating Hormone (TSH), Free T3 and Free T4, which are the actual thyroid hormones.  Those levels will determine whether or not your son has a thyroid issue. Many of his symptoms are consistent with hypothyroidism.

Try to get those tests done, then post the results with reference ranges, here for us to evaluate.   You might also want to ask for tests to determine if he has Hashimoto's Thyroiditis, which is an autoimmune disease that attacks the thyroid.  The tests he need for that are Thyroid Peroxidase Antibodies (TPOab) and Thyroglobulin Antibodies (TGab)... He needs them both, because some people have only TPOab, others have only TGab and still others have both... He could be misdiagnosed without them both.