I am a new member here. As with everyone I am here through illness, in my case my 11 year old son, Jonathan.
From being born my wife and I thought Jonathan was just a sickly child. He was thin, small and didn't develop quite aswell as expected. At 2 years he had an umbilical hernia and was operated on. Later in life we attended the go because he seemed clumsy, light footed. Nothing really done. He had glasses from an early age.
4 years ago we attended the go with him sleeping through the day, again nothing really done. Then migraine headaches that would send him to bed with flashing lights, sleep worked. He was prescribed beta blockers which reduced the symptoms. He has had dry skin for ever, small privates and I thought a slight homosexual tendency ( not any actions just a feeling a parent gets).
At school Jonathan is academically very bright, best is school with numbers and words, yet completely unsporting. Flat footed and unsteady, he often misses events in his periphery.
About 8 weeks ago now he had a scrap at school, and the next day or two a school mate' got him in a headlock as he came home. We don't know exactly what happenedas he turned up at home crying and others told us what had happened.
Since then he became tired during the day, his appetite iincreased massively and weight gain. We considered a growth spurt at the time. As this increased in effect we took him to the go. They questioned him about school and took bloods.Standard blood tests came back normal. A fortnight later we went again, he has put on 1.5kg this week and cannot attend school since they say they can't look after him and he disrupts the class when he falls asleep. Again questioning over social problems at school.
I work abroad as a service engineer, so am not around a lot. My wife told me the condition and I contacted the go myself and insisted on thyroid testing of blood. The standard ten, t3 and t4 tests came back, low end of ten but labled as normal.
It was then I started investigating properly. The internet is is wonderful thing and had it not been for this modern marvel we would still be at the go stage.
I contacted Thyroid UK to get the doctors list and Lyn took an interest. She volunteered central hypothyroidism before knowing the previous history of Jonathan.
The more I read the more certain I became. He has had limited thyroid function since after birth, resulting in low development. The symptoms have always been there and mounted up through the years. Now, after the head trauma thing have gone full reversal, massive uncontrolled growth. This was the catalyst for action, and I am sincerely sorry we didn't notice or do anything more earlier. Obviously the g.p didn't look through previous history and treated each visit as seperate events.
I literally shouted at the doctors over the phone from Korea, they agreed to refer him. The emergency referral meeting is held on a Monday. But due to a bank holiday they just miss that weeks. ( this is absolutely diabolical, an urgent referral goes waiting two weeks due this). A private appointment was made whilst we awaiting the hospitals decision on when he could be seen, the secretarys told me the minimum would be 8 weeks. I spoke to the hospital consultant, he runs the narcolepsy clinic, and Jonathan's symptoms interested him, asking narcolepsy based questions.
We went to see him yesterday, 15 days after referal ( they aim for two weeks in a cancer case so this is quite good).
Again he went down the narcolepsy route, and discussed diagnosis and testing. Towards the end I mentioned hypothyroidism, ( I was almost certain myself). He listened but suggested that actual sleeping was not part of the pattern, tiredness yes, but not actual sleep. Still narcolepsy in his eyes, but he agreed to test for free t4 and discuss with endocrinologist. He also suggested an mri which was another thing i expected to have to fight for, very pleased with this. We heard nothing by close of play yesterday, he did sayif blood showed dangerous levels he would be in touch, so this is not bad news, ccholesterol and others must be fine. He has recently started to hallucinate during sleep which worried me enough to fly back from Korea leaving a job unfinished. Fortunately my company are sympathetic.
Today we are going to see the private consultant, luckily he used see to work at our NHS hospital and knows the consultant there. I expect he won't be looking down the blinkered eyes of a nercolpsy specialist and will take all the clinical evidence onboard. Myself, and my wife after reading more, will be pushing down the diagnosis of hypothyroidism today and will implore the consultant to contact the hospital so a better range of blood tests are done.
The MRI scan is the final confirmation but I think he has a growth close to the pituitary gland. We pray it is simple.
Without the internet I would never have been able to diagnose myself, with Lyn and Thyroid UK I would never have been able to diagnose. The narcolepsy doctor would have had a new member to boost his clinic, and reputation, and our son would be getting sicker and sicker.
We hope we have turned a corner, the end isn't in sight and the road looks very scary right now. But at least we are going in the right direction.
Many thanks to Thyroid UK and especially Lyn.
I expect to be posting more as the situation develops. I sincerely hope it all ends positively and we look forward to having a 'new' son soon, a son physically and mentally better than before.
Andrew
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Jonathans_Dad
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You poor people. If you don't get any further a trip to Doc Peatfield might be in order - sleep as not part of the condition? Most people with undiagnosed hypothyroidism could sleep for England. Keep us all posted XX
So sorry to hear of the difficulties Jonathan is having and do keep us ingormef on his MRI results and progress.Glad you are finally getting somewhere and have been helped by Thyroid UK.He is lucky having you and your wife fighting his corner.How ols is Jonathan now? Good luck
What about a full hormone blood profile?not just TFT but everything to rule out Cushings and all the other endocrine conditions. You mentioned about previous poor growth etc until the recent head trauma when has been putting on weight ++..My understanding of an endocrine first consultation with s&s like this would be start with complete hormone profile...inluding cortisol, insulin growth, acth. Good luck x
We saw a private consultant peadiatrician yesterday morning. He was an NHS retired general peadiatrician, rather than the specialists now resident in the NHS.
He agreed that hypothyroidism is likely, he also poo pood the NHS consulatnts view of narcolepsy ( specialists will try to fit cases into their speciality and then look elsewhere).
After a very detailed physical examination it was agreed that he would contact the NHS consultant and request more detailed blood analysis and possibly a faster MRI scan.
There is supposed to be a very good peadiatric endocrinician? at our local NHS hospital, although a little disapointed the consulatant didn't mention them by name, I am hopeful that they will interept the results quickly and treatment can begin, at least to subside the myxedema symptoms. The MRI will show more.
I will phone on Monday and request details of the blood tests and I hope to speak directly to this peadiatric endocrinition.
Looking back, Jonathan had a bath slip which resulted in him being without oxygen for a time. This was at age about 18 mths. Just before the umbilical hernia was noticed ( and treated well at the time ). I now strongly suspect this is the root cause and he has Sheehans Syndrome as a result. My alternative is a Rathke’s cleft cyst, which contains growth hormone and has been punctured during the recent trauma, only an outside maybe for me.
Things have moved reasonably well for us. The MRI is important, but initially he needs the medication. That will be provided aslong as blood test results show reason.
Thanks for the support, and advice. My wife has read it too!
Your posting stopped me dead in my tracts, so to speak, hope Johnathan gets sorted ASAP. I shall be following your 'Johnathan's story' with much interest as it has similar links with our 7yr old Grandson.
He has had a big weight and height issue since birth and we have always felt it was thyroid connected, due to so many connecting symptoms, but 'they' won't have it.
Grandson's whole family have had a very rough ride, due to School nurse's weight charts and Social Services.(Parents must be over feeding. Mother needs a mental test. )
Parents tried to find help when G.Son was very young, (so obviously would not be overfeeding child and asking for help at the same time, ) members on here, 'Thyroid UK' have kindly read Grandson's bloods and have suggested his 'gut issues' need to be checked out, (Pediatrician says no problems with gut, but has not even check it out,) members have also suggested Hypothyroidism and one has mentioned Central Hypothyroidism, but as his bloods are showing 'within range' to them 'they' are not going by 'symptoms.'
G.Son was born with Erb's Palsy (a neck, nerve damage injury, caused at birth) due to medical negligence, which has affected his arm.
You have mentioned your son having other symptoms our G.Son also has, so I will be watching your 'Johnathan's story' with much interest, Johnathans-Dad
I spoke to the consultant Peadiatric Endocronoligist at the local NHS hospial. He is a renowned specialist but had just returned from Prague. He had no knowledge of the case but took his name after I asked that he be involved.
I then spoke to the General Peadiatric Consultants secretary, she had the blood test results in front of her but would tell me anything. The consultant is the only one allowed to give them out.
Then I phoned the lab, same story. No results given.
The General Peadiatric consultant phoned back; He would not give me the results, nor tell me what had been tested. Everything is fine, he does not have Hypothyroidism or Myxedema, his Thyroid is fine. He didnt have time to give the detailed information but had the time to lecture me on how I should let the doctors look into it, they have spent 5 years at medical school and my looking on Google is not helping. I think he was very busy ( with his team being two docors down right now) and he didn't appreciate the intervention by an ex collegue, the private consultant. He would only have the results posted out in due course. He did tell me his ESR was high, but insisted myxedema could not influence these tests. It is the first test and he will take another in due course, the MRI is booked for 30th. Goodbye !
I have requested detailed blood tests via the private doctors secretary, but although sympathetic, the doctor has not phoned us back and the message was left that the NHS consultant is dealing with it and is very good.
At present I am stuck. I need a doctors agreement to have detailed tests done now, taking into account actual blood volume. I fear the basic and possibly next set wont show up the possible problem in the hypothalamus and that only a very detailed and precise set will diagnose, exactly, the chemical failures. The MRI is booked for 8 days and this I am sure will show the physical area and therefor the testing required, but this could be the second set because the first set looked good, T4 etc. That leaves another 3 weeks before possible diagnosis and treatment.
My wife and I both thought on Tuesday he was looking and acting better. Only a 40 min sleep and more alert throughout the day. Yesterday however he was back to intermittant sleeping, very droopy eyes - he has to lean back to see since his eyelids and brows seem to hang down etc etc. It is very hard to see him this way, I am fearful that the wait will hamper the correction of all the symptoms he has developed and are increasing. His school teacher did tell me that during the mornings he attends ( he is 11, the school could not have him in normal days from weeks ago) he is lethargic, no longer tries to answer questions but still did well on his SAT's last week, from what she saw. He attacked the paper! Unfortunatly it is noticed in the class, thankfully this is his last year at that school and we hope him to be quite different come September.
What can we do?
I see Leeds has a good department, we live on Tyneside. My only thought is driving him down for a second opinion through A&E.
Are we just interfering, overly worried parents with no medical knowledge and a dangerous internet ?
Since this General Consultant runs a Narcolepsy Clinic he should be aware and able to distinguish related illnesses like Hypothryoidism to make a more certain diagnosis of nacrolepsy, the Endoconologist has probably asked and looked. Should I accept the answers and just wait for the 'machine' appointment ? Obvoiusly the private consultant doent think it's an immediate concern or he would be doing his proffessional best, I am sure.
Jonathan had his MRI ( 9June), Pituitary with contrast. I was concerned about the way the hospital calculated his dose of contrast ( body weight used to estimate the blood volume ). It took 3 goes to get the needle in, luckily they applied cream to 4 sites earlier! No veins on show and I suspect there wasn't alot of blood in there. He took it like a trooper, falling asleep during it and just got on with it. I did make sure that a nurse observed his severly swollen lower legs and feet, non pitting edema.
The letter from the consultant said, ''Jonathan's MRI brain scan was normal, showing, in particular no problem with his hypothalamus, pituitary gland or the connection between them'' . His ESR had dropped from 34 to 25mm/h, prolactin midly elevated 683mIU/L - range 0-450 and HLA narcolepsy genotype positive. His next course of action is a lumber puncture for CSF, ''I would be grateful if you would let me know if you would like me to proceed with orgainsing this''.
My wife and I are very concerned our consultant has ignored every symptom that does not relate to narcolepsy. His swelling, outer eyebrows missing, swollen tongue, gross motor skill reduction and skin and I could go on here......
Sleeping during the day and weight gain means narcolepsy to a consulatant who happens to run a narcolepsy clinic. We want everything else looked at before a procedure like that, ( Jonathans well being, possible after effects (general anesthetic), and dare I say NHS cost?, with only the few tests so far with an elevated ESR the only ''h'mm, that's strange, let's monitor it'' ), a letter was sent to the GP and Hospital saying the same, outlineing his full symptons, the recent changes, stating our lack of knowledege of any plan should his CSF turn out to be fine and our belief that all his other symptoms will be attributed to narcolepsy and ignored for life if his CSF is low.
Our choice of referral was limited. The GP did not want to go out of area, funding! With our resources and expecting a reasonable turn around we opted for the Endocrinology department at the same hospital. ( I have spoken to the Professor there and asked him to be invloved but it looks like he has not been so far ). Somehow I still think the NHS serves his needs best, it is local and it does have very good staff by all accounts. However I am getting ever closer to travelling with him and taking, what I still perceive, as a chance with private clinicians.
His mood is generally better, sleeping during the day is battled, but seems to result in before school hour instead of afternoon hour asleep. His headaches have returned, migrane behind his left eye which needs sleep to releive. His motor skills are not good. Often he limps, this morning I had a tear as his right foor was on his toes like a spastic as he walked to school, he insists on going, and from this week he is full time again. His walking varies, right to left and seems to follow the swelling, which can also swap legs in worseness. 27cm and 29cm around the lower calfs, interchangable. When walking or talking whilst standing he has little control of his full arms, they move from his shoulder as he talks. I could have sworn I saw a Micheal Jackson move in there whilst he described something the other day.
I have proactivley had him to the GP doctors twice whilst waiting for appointments.His swelling just wasn't noted or measured and when his right foot turned in badly it was reason. Previously after his left foot was twist under itself and he had a day off school the GP told me the hospital said it was another sign of narcolepsy and not to worry. When I saw her she told me I should have taken him to A&E ! I think the GP is trying, but the hospitals are busy and because his MRI was clear they have taken him off the possible cancer list and downgraded his urgency. Still, there has been no care whilst waiting for the hospital, 2 week wait, after one 20 min checkover the consultant left it for 2/3 weeks for a scan then a week for result and further lumber puncture advice, now 3 weeks for the referral without anyone wanting to know if anything has changed. No discussing on testing, only letters sent by post because my email is not secure (like my post is!). We are now some 14 weeks after a minor tramatic head injury with no diagnosis and a set of results which are ''essentially normal, except for the ESR'' and more recently the Prolactin which was midly elevated and occurs for a number of natural reasons, including excessive sleepiness''.
TSH was 1.0 at GP, then 17 days to Hospital;
1.73 (0.3-4.7)
Free Thyroxine 14.4 (9.5-21.5)
Free T3 4.4 (3.5-6.5)
Haemoglobin 126 (130-260)
Monocyte count 1.19 (0.2-0.8)
HDL colesteral 1.9 (1.0-1.5)
Triglycerides 0.4 non fasting (fasting range 0.5-1.7)
Top of range;
Potassium, 4.8/3.5-5.0
Total Co2 25/19-28
Bottom of range;
Heamatocrit 0.387/0.37-0.49
RBC 4.61/4.5-5.3
MCH 27.3/25-35
There are others which look OK, more mid range anyway! If you can help and need them please PM.
After phoning the GP, they called the hospital and arranged for a 3 day full 24hr unine sample/s. He gave about 400mL, 200mL and 3-400mL. This was dropped off on Saturday to an amazed Sister who exclaimed they would normally be closed, she eventually took it. The only thing we saw on the lable was cortisol.
I phoned today and asked the secretry for the extent of the urine tests and when the results will be ready. She explained she would speak to the Dr/Prof. but he was busy at present with a flown in critical baby, this brought it home to me. My son will certainly survive a few days/7 and counting!, however urgent cases are urgent and there just aren't enough doctors skilled enough to meet the demand. The private sector takes advantage of this, at the premium.
We are trying to get a decent olde thermometer, but enevitably it will only confirm our diagnosis of hypo or related and the treatment being the same, and we can't try it till someone perscribes it...............this is very frustrating, (Tony the Tiger from frosties) G'rrrrrrrrrr. My wife is very worried it will take years, her sister has Chrones, and after 20 years of mis-diagnosis, has been crippled by incorrect medication. I am more optimistic, clinging on more like it!
Private consultant;
Should the testing on his urine be limited to Cortisol only then would wait again...weeks maybe. I do not know if someone like a southern wales lady could see him in 10 days or so, nor if the 8 hrs asleep in the car would worsen his situation. Any recomendations closer to the Roman Wall would be gratefully received via PM. We really dont know where to go to hasten testing and be confident we did not cause the extra testing for nothing He is fed up of multiple tests and no diagnosis, this week he is more reclusive and still angry.
Any light on the matter, experience, why 2 doctors who have seen him say it is not hypo and advice on keeping him as best as we can till it is eventually diagnosed and treated, gratefully received.
After a three week wait for referal to Endocrinology;
Saw Professor, very happy with his attitude and assurances. He had a good look, took more blood and told us his urine test came back with noticable rise in Cortisol only on the third day from 3. Tests are being repeated. The time of the tests he was OK, just after he got worse, this we guess is the reason for the high level. It is just a question of catching it when it is released, which we see in a bad turn for him.
Cushings was mentioned.
This looks like the worst case for him, although it could all end very positivly I suppose.
Neurologist on Wednesday, so at least things are moving now. And told today, by the same secretary that has always maintained that she cant give results out over the phone! that his TSH was again normal and his ESR is still coming down. Seems the communication is getting better too.
Fingers crossed we get a diagnosis before too much longer.
Well, a week on from the appointment. We are waiting for the narcolepsy sleep study. This is the only course of action.
From urine cortisol one day was high. This was the last day of three and the next day he was quite ill, very tired, swollen and grumpy. However no further testing is proposed since the 5 goods ones discount cushings.
From emailing the hospital we learn Jonathan's swelling is being put down to fat. Narcolepsysuffers gain weight. From 34kg to 47kg......we cannot get shoes to fit him now and the swelling can swap legs overnight, 2cm circumference change from left to right and then back. Infact everything is being ignored or associated with narcolepsy.
A 24 hr saliva cortisol test is here to do tomorrow from Geneva, but the hospital won't take any notice of it. I don't know if to do the afternoon one before or after his 5pm sleep, I guess before since it may show why he is so tired. At least it may show if the normal rhythm is there.
Whatever is wrong with him it has not affected his academics. 49/50 on the school sats paper for level 6. He should be at level 4 right now! At least the holidays are here and we can assure he gets as much rest as possible, the only treatment we have for him after 4 months of medical intervention.
Rt3 made instead of active t3, due to high cortisol.
Cortisol levels are going up every 10 days ish, rt3 remains and disrupts the free t3.
I am told that cortisol does not cycle in this way and if high it stays high. I am told that Tyneside has never seen such a case nor heard of one.
I am told that rt3 is not worth looking at, and if it was that, his free t3 would not be lower half of range.
To say I am worried that a high cortisol will lead to brain waves that match narcolepsy is an understatement. I only hope they know what they are doing!
Waiting for a sleep study, because a lumber puncture is not justified in our opinion. The local one is busy, September is the next appointment. That's over the 18 week target so some attempt can be made to have it done elsewhere, if they are any less busy.
A pity for Jonathan, but it could have been so much worse. And it has only taken 4 months to get here.
Andrew, I've only just seen your post about Jonathan having narcolepsy. Unfortunately, it isn't as easy to spot updated threads on the revamped site and I think that most members who have posted on this thread will have missed it too, hence the lack of response.
Will you post a new thread to let us know how his Sept appt goes. You can always link to this thread. I hope it goes well and Jonathan gets the medical support he needs. It's been a dreadful time for your family.
Adoctor, you make no sense and have not replied to my query about why we should try and get vitamin levels checked. Please stop posting random things without any justificaton.
I can search.myself, and have. No need for you to raise the false hopes your posts imply without substance.
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) 
) members on here, 'Thyroid UK' have kindly read Grandson's bloods and have suggested his 'gut issues' need to be checked out, (Pediatrician says no problems with gut, but has not even check it out,) members have also suggested Hypothyroidism and one has mentioned Central Hypothyroidism, but as his bloods are showing 'within range' to them 'they' are not going by 'symptoms.' 
43 lbs lost so far on T3. But I have one question to which I don't know the answer. Please help.
First NHS Endo Apt - a battle story
Downhill again so soon?
