Saturday, February 8, 2014

Plan of action, at long last

We're now at the point where we should've been when Monkeyman was 3. When he was 2.5, his first line of blood tests came back normal. I almost want to add, unfortunately. Because if his white blood count was low then, maybe the pead would've followed up. But, it wasn't, and he was declared healthy and fine. And we were send on our happy ways.

So now, 3 years later, we're back at the same pead, after complaining about Monkeyman's tiredness at every visit, for every child that needed to see her. Obviously, it must've stuck with her. Because yesterday we took Monkeyman to see her, and before I could even tell her why we were there, she said "about his tiredness?". That was a very good start.

She looked at all his bloodtests of the past year (I requested the receptionist to get a hold of it for us before the visit, which she thankfully was able to). And she also read the cardiologist's report. In her opinion, we shouldn't worry about the heart at all. She felt that it's been ruled out as a cause, and we can relax about it.

Just amazing, to think that 3 weeks ago, we believed our son is in heart failure. Only to now been told that he's just fine, nothing wrong, no heartfailure, no disease, no disfunction, no defect, no enlargement. Still just mind boggling. The mind shifts required of us is staggering.

Anyway, back at the pead visit. She had a good look at the 4 blood tests he had, in June, September, November and January. So it gives a real good picture of what's up. Which I believe we have the first cardiologist to thank for. Even if things went pearshaped with her recently, she did provide us with that. An excellent starting point.

Accordingly to the pead, his blood tests aren't as bad as we were led to believe. His neutrofils wasn't excessively low. And it wasn't consistently low. She also said there's no anaemia issues, and no clear picture of cancer. The transferrine is normal and it doesn't worry her at all that it was low the first 3 times. The only 2 things that worried her, was that his IgE was a tad low, and his lymphocytes were consistently low with every white blood count done.

The pead was uncertain how significant this could be, given his tiredness but lack of any other symptoms or regular infections. So she phoned a pathologist doctor and they decided on a plan of action together. Firstly, they're going to test his other immunity markers, IgA, IgG and IgM. As well as antibodies to some of his baby vaccines. They're also doing a CAST allergy test for food, inhalants, preservatives and colourants. Lastly, they're testing some autoimmune markers.

Once they've received all of these back, and of course depending if they find something or not, they'll do metabolic testing. This will happen over the next month(s), since some of the tests takes a while. And we haven't been able to take him yet, since for some reason, they don't do the CAST test on Fridays. So early Monday morning, before school, I'm taking him in. For his nth blood tests, poor thing. Thank goodness he is SO brave and tough about this.

I've started to research a little about consistently low lymphocytes, and what hit me right between the eyes, was that one of the causes as listed on numerous medical sites, could be DiGeorge anomaly. DiGeorge is the name given to Velo Cardio Facial Syndrome, or 22q11.2 deletion, when the child has low immunity function. Most syndromes/diseases/chromosomal abnormalities, have a list of features, that's split into major and minor. Usually, you have to have x number of major and x number of minor features, to be classified as having that syndrome/disease/etc. With 22q11.2 deletion, there's something like 189 features, with most of them listed as minor. There's only a few handfuls of major feautures. Like heart defects, cleft palate, psychiatric behavioural problems, learning disabilities, etc. Including in these, are also "Immune deficiency" listed. So it's one of the major features of the disease. If you have it, they call it the DiGeorge anomaly, on some sites.

The strange thing is that children with DiGeorge, are usually frequently ill with infections when they're little. Monkeyman isn't and hasn't been frequently ill. Quite the opposite. Like my other children, he's actually very healthy. Much healthier than the average kid. We would never have known about this low lymphocytes, if it wasn't for his persistant tiredness. So could it be that any of my other children might also have this? Is it something we need to consider and test for? I'm not sure. I think this is putting the cart in front of the horses. But, it has been interesting to read that some children with 22q11.2 syndrome, have consistently low lymphocytes. Just like Monkeyman. It definitely needs some more looking into. But for now, let's just see what his blood tests reveal.

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