My Son's Journey To Diagnosis, Not Over Yet

[Quasior]

Now, we're Australian, so our system's different to many of you, so if anyone has a clue about it in Australia, let me know. I'm keen for everyone to give me advice though...

My son, Raven, is 4. He's been sick since he was very young with various ailments, nothing *serious* per say, things like breathing problems, very early asthma, worst 'growing pains' out of all my children (I have 5 children), very light sensitive and pupils which are always too large, very pale/nearly translucent blue eyes. As he grew, he got worse symptoms... and more. He had real problems with toilet training (he's still not completely), he has constipation/diahrea, bloats that make him look larger than a pregnant woman in comparison, pain, unable to walk when he's having joint pains which are frequent (4/7 nights), quiet, larthargic, flat, his weight and growth were too slow, particularly his weight was always under the percentile.

Under these conditions, we were sent to to see a pedatrician - and the diagnosis was.. He has an undisclosed anti immune disorder. Nothing to be worried about we'll see how it develops. What???

NOT good enough, how bad does he have to be before we worry???

So, I found a really good GP who gave him a DNA blood test. It came back with both Ts Positive for Coeliac's Disease. He's back on the 'waiting' list to see a ped at the public hospital. I've been advised to take him off gluten and get a food diary happening. They didn't want to do the biopsy before because it was too intrusive for the little man. My GP is sensible, she said we'll you could wait until he's a teen and keep him off gluten until then, but he'll be questioning why. There will always be a question mark about it. He's already questioning it.

Family background is: I've got Coeliac's Disease but not by biopsy. Its pretty obvious though, DNA test says positive potential, I've had positive bloods to the 'screen' they currently use (0ne came back negative though - but I was pretty much off gluten at that stage). Was misdiagnosed with IBS a decade ago with chronic diahrea - it got worse and slowly developed other problems, gall stones (had it out whilst pregnant), asthma, hay fever, skin rashes (really thick across my hands), thyroid issues, weight problems and fatigue. Hell, I've been quite active physically but not felt fit - that is a frustrating and bewildering thing. Lactose intolerance etc. So, I tell the dr I'm seeing at the time, I can't do this anymore, I'm going off dairy. So I did, I got worse, alot worse - I just couldn't be in public without fear of embaressment, I was doubled over in pain for days at a time, I had joint pains, my hayfever out of season was going crazy. So, two months after ridding myself of dairy, I say I'm going gluten-free. In three days, my bloats/diahrea gone. Other problems seem permanent, but a bit better, that was about 9 months ago. Going on this, my GP tells me - OK you've probably got it, up to you if you want the biopsy, but in your case it will be a painful challenge. This is good enough for me, I think I'm diagnosed. My mother wont adm,it it could be her too, but shes got all signs/symptoms i do plus shes diabetic. Thyroids are big in the other side. His Aunty on his Dad's side has it too. Both sides seem to have it genetically...

I worry I'll get the same response from the public system again. It will be expensive to go privately, and we're pensioners as my partner has a mental illness and I care for him. It's crazy screwed up system. There are other health concerns across my other children too which have not been solved publically. I have a right to be concerned I think. Oh, and we're in Tasmania.

Any advice? He's already hating the gluten-free diet, its only been four days.

[OBXMom]

It sounds like you've had a really difficult time with your son, and I hope you get it sorted out. I wish I had some advice about the testing, but it sounds like you understand your options. . . I just hope he feels better soon!

[taweavmo3]

I have a 10 year old son that I put on the diet without a positive biopsy.....I had him blood tested b/c his sister is biopsy diagnosed, and he already had psoriasis and tummy issues, but he tested negative. The GI doc won't do a biopsy on a negative blood test, so my only option was to try the gluten free diet.

He was 8 at the time, and was the hardest to put on the diet b/c he knew the good food he was missing out on, and he wasn't really, really sick like his sister. However, he agreed to try it for a couple of weeks and realized how much better he felt. This past summer, he did start to question why he was on the diet (forgot how cruddy he felt before) so I let him make the decision to go back to regular food and be tested again.

He only lasted two days.....he became bloated, irritable, had diarrhea, two big mouth ulcers, and migraine headaches. He now knows for himself that he needs to be on the diet, which will be key for him later on as he makes more and more decisions for himself.

It's such a personal decision to pursue a diagnosis or not....but in our case, it has worked out so far w/out one. I don't know what the future holds for him, and if he'll stay gluten free or not, but I at least know for now he's healthy. He's also learned some valuable lessons that many adults don't get until later on.....he's learning how to make good food choices, how to take care of himself and listen to his body cues, how to be different and be okay with it, etc.

That's just our experience, but I wanted to share so you know it is possible. I try to be positive, cook lots of treats so they don't feel deprived, and I let the kids be in control of their diet so it never controls them. Hope my novel of a post helps you some! Good luck.

[Quasior]

Hey, thanks for the replies OBXMom and taweavmo3.

I have two sons on the diet now, one requested to be (but he didn't realise how restrictive it was going to be - even so he says he feels heaps better and won't go back on gluten).

My son I posted about earlier though shows little signs of improvement, so I'm going to further restrict his diet and cut out all dairy now too, as I've been keeping a food diary and it seems he's almost always bloated after having cheese or yogurt (he's on rice milk and other than that nothing else).

He complains alot about the diet, but he's only 4! My 8 yo who is by choice on the diet is much more understanding. I wish for a diagnosis so my youngest son doesn't have to question me so much. It is really complicated, I had to take a pie off him when we were visiting friends on the weekend.

I wonder how long it might take to notice his improvements. I guess it is all variable, but my husband has started worrying, "why isn't he showing any improvements yet?"

It is a long tiring journey but I am not about to give up on it.