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Rare mutation
Hello, I am the mother of a little girl of three years, compound heterozygous for mutations F508del and T604i. I want to know what class of mutations T604i belong? Here the only information we know. T604i is located in exon 13 (substitution C> T at nucleotide 1943 resulting in the substitution of a threonine with isoleucine at position 604 of the protein.) Thank you. E.
07.05.2012
Rare mutation - R709X
Hello, When my CFTR gene was sequenced the nonsense-mutation R709X (c.2125C>T) was detected. Furthermore, the molecular genetic findings of the Medical School Hannover (MHH, Germany) states that this mutation in combination with the 3272-26A>G mutation is most likely "compound heterozygous". What does "compound heterozygous" means in this context? Which mutation specific therapy forms would come into question? Many thanks, B.
07.05.2012
Klebsiella bacteria in the throat
My daughter (14 months, CF) had a throat swab done in which klebsiella bacteria were found. The doctors said these bacteria were sensitive to cefuroxime and that I should give my daughter this antibiotic. However, she has already been taking it for three months anyway in order to get through the winter well. This means she has acquired the klebsiella bacteria during the antibiotic therapy, since they were not present in a swab done three months ago. What kind of bacteria are they exactly? What are the chances to get them under control with cefuroxime? On the other hand, they are after all linked with ESBL. How high is the risk that the next swab will show ESBL? Can we do anything at home in addition to giving her the antibiotic? Fighting the bacteria? Hygienic measures? Additional therapy? Thank you for your answer!
07.05.2012
Thoracic hyperinflation
Hello, The last thoracic X-ray of my 3.5 years-old daughter revealed a thoracic hyperinflation. What does that exactly means? Is it temporary or permanent? My physiotherapist told us that a belt could help her. How considering the follow-up when such a hyperinflation is observed at a such young age?
07.05.2012
Creon
I am 18 years old and take creon almost regularly. I am surprised, though, that I am not thin, like the other CF patients. I am 153 cm tall/short ;-) and weigh 55kg, and I have a rather plump belly which bothers me. My question: am I taking too much or too little creon?
07.05.2012
IMPACTT protocole
The physician who follows my 15 year old son proposed him to participate in the IMPACTT study (http://impactt.eu/) which is to gargle and then swallow every night a formula enriched with egg yolk Y immunoglobulin. From what I understand, the hens are vaccinated against pyo and produce antibodies that are found in eggs. Several questions: - What are the consequences - risks for the patient to ingest daily egg yolk (allergies, liver effects ....)? - does ingestion of egg yolk containing a form of this strain of germ leads to a risk of contamination? - I usually buy organic eggs to avoid food poisoning (salmonella, viruses ...), are the "research" hens raised in an "organic" farm ? how are the chickens fed and raised ? Thank you for your answers
07.05.2012
Tests for brother and sister
I have three children. The youngest has Cystic Fibrosis. Is it necessary to test the elders who are 6 and 4 years? They have no symptoms and their skin is not salty. Can they declare the disease later ? Cordially.
07.05.2012
Hair dryer
Is it possible to dry my daughter's hair with a hair dryer ? Could that air be harmful ?
07.05.2012
Physiotherapy and inhalation with asthma and CF
[Note: below are two similar questions asked by the same person – the answer refers to both of them.] Physiotherapy with asthma and CF Hello, In the morning, I (female, 43 years old) first inhale Symbicort® (budesonide and formoterol) to open up, then Spiriva® (tiotropium bromide), then Pulmozyme® (dornase alfa) and after 1-2 hours NaCl with 4 drops of Ventolin® (salbutamol). After that, I do PEP (with smallest opening) and white rib belt, and then autogenic drainage in lying position in order to cough up. Altogether, this takes one hour, but I can nevertheless loosen up the secretion only partially and have to do therapy again around noon. This is quite a burden on my daily routine. Perhaps you have an idea what I could do/inhale differently in order to be able to cough up better. I have a lot of sputum and do not tolerate the antibiotics for inhalation, but I rarely have infections. Many thanks and kind regards. ++++++++ Inhalation with asthma and CF Hello, due to severe allergic asthma with CF, I (female, 43 years old) inhale two puffs of Symbicort® (budesonide and formoterol) (6) Turbuhaler three times a day, Spiriva® (tiotropium bromide), and Pulmozyme® (dornase alfa) in the mornings (after Symbicort®). I do not tolerate antibiotics. Before drainage, I additionally inhale NaCl 0.9% with 4 drops of Ventolin® (salbutamol), all of this with the E-flow. I can nevertheless loosen up the secretion only partially in the mornings and have to do therapy again around noon. This is quite a burden on my daily routine. Do you see an option (perhaps inhaling the Ventolin® first in the morning, or a higher dosage; or using a different spray) whereby I would only have to do drainage in the morning and evening? Many thanks.
07.05.2012
Can you get symptoms from cystic fibrosis when you are already an adult?
Can you get symptoms from cystic fibrosis when you are already an adult?
03.05.2012
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