Insecurity

Question

Dear ladies and gentlemen,
I worry about my 18-months-old son. Until his 6th month I brest-feded him and he gained weight well. Afterwards he gained few weight and sometimes he lost even weight. However, he does hardly eat anything. No potatoes, no noodles, no rice, no fruits and vegetables, no sausages and no meat. Only semolina porridge and buns without butter and filling. Furthermore he has freuqently bronchitis and last year in autumn I found him hardly breathing in bed and he was very grey. Several times he has been in hospital and on the intensive care unit. Since this springtime he inhales in the morning and evening a combination of fluticasone and salmeterol and in case of hard breathing salbutamol. Since the summer he is now relatively free of complaints. Execpt for the low weight of 8000g and often cough and rhinitis, his development is only slightly delayed compared to his twin sister. Last week the pneumologist sent us for a sweat test. The result was 66. In january it should be repeated.
Now my questions: Can the test be wrong? What do we have to expect if my son suffers from CF? Could he go to a day care center as planned at the beginning of february? Should I also have his twin sister be tested?
Yours sincerely,

Answer

Dear Mrs.,
your questions are very complex. I would like to concentrate first on the question if your child suffers from CF. You report that your 18 months-old twin child has a very bad apetite and eats only very picky semolina porridge and buns without butter and filling. Because of breathing problems your son has been in hospital several times and partly an intensive care had been necessary. Partly an inhalation therapy with salbutamol had been performed. Since the summer your son is free of complaints exept for increased cough and rhinitis, the weight lies at about 8000g.
A sweat test had the result of 66 and should be repeated in january.
I do not want to address the question today, what you have to expect if your child suffers form CF and if it could go then in february to a day care center. One should only start to speculate about this, if it is clear, if your child really suffers from CF. In general a child with CF can go to a day care center.
At first it has primary to be clarified if chloride or sodium has been measured in the sweat and if the test had been performed at a CF-center. In case the value 66 should stand for 66mmol/l chloride in the sweat, the test would be judged as positive, as this is defined by values over 60 mmmol/l. Values between 40-60mmol/l are in the borderline area, values under 40 mmol/l are judged as negative. Of course the value here lies only hardly above the "positive-line".
The test could rather be false positive and a single psotove test does not prove already a CF. As your son is 18 months old, a control investigation should be repeated soon without any problems. At the control a double-investigation on both arms should be performed. The control investigation should be performed at a so-called certificated CF-center. You will find addresses for that on the website of the German Mukoviszidose e.V (info@muko.info).
Of course it will be difficult, due to the feast days, to get now soon a control appointment, but probably you have still luck on the 23rd december.
As your twins are dizygote (son and daughter can not be monozygot), there is statistically a risk for your daughter to suffer also from CF (in case your son should indeed have CF) of 25%, with a probability of 75% your daughter will be healthy; she can however have inherited one CF gene with the probability of 50%, that means she is clinically healthy (because to be ill one have to have inherited two CF-genes) but can be carrier. I would recommend, to wait for the results of the further diagnostic of the conspicuous child.
The complaints that you observed in your child can of course have other causes; especially if your twins have been preterm births and had problems of breathing at the beginning.
Therefore please try to achieve a control-investigation as soon as possible in a center. In order to accelerate the further diagnostic you should bring a stool sample of your child with you, in order that the physicians can investigate the function of the pancreas of your child in parallel, as about 80% of all CF-children suffer already at birth from a hypofunction of the pancreas and thrive badly. In general, those children have a huge apetite altough they do not gain weight sufficiently.
We whish you much luck for the future with your twins.
Yours sincerely,
Dr. H.-G. Posselt

17.02.2011