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F508del heterozygous- first recognitional breakthrough?
Hello, did I get it right from the English that for the first time there has been a significant improvement in the usage combination VX-661 and KALYDECO® (Ivacaftor) in case of F508del heterozygous patients "with/independent" of G551D? That sounds like a breakthrough for the heterozygous mutation F508del? I am not very experienced yet in this field. However try to clutch at every hopeful straw. Fixate first of all on preventive "full-value therapy". My daughter (3 years) was diagnosed to suffer from CF in October 2013. The mentioned heterozygous variant with another defect. And in here there were no findings until April 2014. In another paper I read, that one supposes that the combination of two molecular correctors and Kalydeco® will have until 2017 a high probability of success for the heterozygous mutation F508del? Many thanks in advance for your feedback, http://analysisreport.morningstar.com/stock/research?nav=no®ion=USA&culture=en_US&ProductCode=mle&symbol=VRTX http://investors.vrtx.com/releasedetail.cfm?ReleaseID=844677 Best regards, S.
28.07.2014
Mutation
Mutation c.-8G>C (rs1800501) homozygous Dear expert team, this above mentioned mutation is in the genetic result report of my daughter, who is 4.5 years old and suffers constantly from birth on of obstrucitve bronchitis. She has already had 3 pneumonias and partly, if the mucous congestion of the airways increases, also slight impairment of the digestion. Her sweat test values were at 31 and 33. Now we are sent to a nasal potential difference (NPD) investiagtion as we have been told that there are humans with this mutation who do not show any symptoms at all. Could you tell me something about this mutation? Does homozygous mean that my husband and I have bequeasted the same mutation? In how far does the mutation have to do with CF? Would it be an atypical form? Many thanks in advance.
28.07.2014
Leukocytes
Hello, my daughter, 11-years-old, suffers from CF and has for a few months much more mucus. The last three sputum samples were free of germs. However, our doctor asks all the time, if it had been a real good sputum. I always pay attention to the fact, that there is really mucus in it and not only saliva. Every time there is a yellowish plug in it. Also if she spits it out, it is yellow. He says that he asks this because there are no leukoytes in it. Could you tell me what this means if there are no leukocytes in the sputum? I thank you very much in advance, J.C.
28.07.2014
A 5-year-old child in contact with small dog
hello, My daughter is 5 years old and is often in contact with a small dog. She was diagnosed for cystic fibrosis: what are the risks and what can be done to avoid the risks associated to the contact with the animal? Thank you
21.07.2014
Rabbit in the school classroom
Hello, My son will be 6 years old, he is homozygous for F508del-CFTR mutation. He will start preparatory class next September. There are 2 teachers and one has in his class a cage with a rabbit ... We have to do a "Project of individualized school reception" but I would like to know what are the risks for our son if he would be in this class and if we have to ask him to go in the other class where there are no pets? Thank you for your reply.
21.07.2014
Newborn screening and sweat test
Dear expert team, my daughter (18 month old) suffers from her 15th week of life on of chronic productive cough of unknown origin. Three weeks after the cough had started at that time, she got a long lasting bronchitis (RSV negative April 2013), that did not resolve. With the inhalation of beclomethasone the mucous congestion became less, however the productive cough stayed. When she was 9 months old, we have been sent to have a sweat test done. It was negative, the values were within the normal range. Furthermore, she was not conspicious in the newborn screening, that had been done after birth. No allergies could be detected. Thrombocytopenia of unknown origin, no spitting child, throat swab without pathological findings. No typical recurrent obstructive bronchitis, thorax x-ray with reaction of the hilus, otherwise without pathological findings, auscultation of the lungs also without pathological findings. They say the secretions are audible "more in the upper parts, not in the lungs", no constant rhinitis. Now we have been sent to genetics, as in the meantime a developmental retardation has shown up (BMI 14, in spite of good appetite and retardation of growth). The geneticist was however now of the opinion, that such an investigation of blood would be rather supportive however could not soleyly be used to make the diagnosis of CF. We are quite desperate, as either the pediatrician nor the pulmonologist can make a diagnosis. Now we are told to go to hospital for bronchoscopy. We are afraid of this, i.a. because of the thrombocytopenia. We inhale 2-3 times a day with NaCl + salbutamol or hypertonic saline, in order the secretion become loose and she can cough it up. In the mornings after the first deep breath she has dry cough and after inhaling, it becomes loose. Often then it is calm for some hours. For 10 months she is getting fluticasone. There was a time period of about 2 months in November and December, when she had no cough for 2-3 weeks with a daily dosage of 250 micrograms fluticasone, also no wheezing and rattling. After reduction, all started again. A cure at the Baltic sea did not have any effect. Are there cases of CF, that can not be detected via the sweat test and the newborn screening (IRT/PAP)? I am very despaired, as nobody knows what she has and how one can help her and which perspective comes about. I would be very pleased about a short judgement from your side.
21.07.2014
Cortisone and problems with the teeth
Dear expert team, I suffer from CF and take for 3 months cortisone, at the beginning 50mg a day, in the meantime only 10 mg. For about one month I have out of a sudden teeth, that are very sensitive to pain. The dentist could not really make sense of it and advised me, to use special toothpaste and mouth wash, as well as not cleaning the teeth directly after having eaten fruits, what I did all the time before. I have followed this for 3 weeks now, however unfortunately the sensitivity to pain has not improved. Unfortunately it is as strong, that it even hurts in case of mineral water at room temperature. I really only can eat cold things if I do not have to chew them, but rahter can swallow them immediately. It also affects not only single points, however the front teeth as well as the back teeth. It seems to me especially harmful between the teeth. Can this be due to cortisone? Is there any protective layer on the tooth that is destroyed by it? What can one do against it? Many thanks, Regards, K.
21.07.2014
Working with earth in the school garden
Dear ladies and gentlemen, at the school of my daughter, the children should help in the next days to lay out a school garden. For this, they should put plants and seeds into the earth - it can therefore be assumed, that it will be burrowed intensively in the earth. Is it advisable for our daughter, to help here or it there the danger, to catch bacteria from the earth? I remember hereby an article from the USA, in that it had been reported, that after intensive ground works besides a hospital, children suffering from CF got severly infected with germs (Burkholderia?).... Many thanks for your help.
21.07.2014
To rinse germs from the water pipes + transmission of Pseudomonas
Dear expert team, I have 2 questions: - about "letting the water run" in the mornings: in our house, the water literally shoots out of the pipes...in case of letting it run for 5 minutes, this would be an immense consumption of water and I would like to know if it is necessary in this case...is there a rule, after which time interval (after how many minutes) approximately the germs are rinsed from the pipes? - Pseudomonas is transmitted via aerosols (right?)...does one have to dry the dishes instantly or can one also let them dry?...or do the germs go from the wet dishes into the air and are transmitted like this?? Thank you very much for your answer, Best regards, ML
21.07.2014
Drugs for delF508
Hello, I have recently visited the annual meeting in Bad Soden, Germany. I have heard there, that Kalydeco® together with a potentiator is said to be licensed already in June 2014. Short-dated also a liquid for children is said to come on the market. Did I get this right? Does this mean the breakthrough? How exactly does this drug function? Is it like this that the chloride household of the body is regulated with it and the organs do not "obstruct" any more? Many thanks for your answer.
21.07.2014
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