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Explanations about mutations
Hello My son, born in mid-November 2014, was diagnosed via Gutrie test perforemd at birth. On the eve of his first month we learned about his illness, and performed a sweat test giving 103mmol / L. Everything is new and I do not fully understand the mutation he has got. Indicated two mutations G542X / C3140-26A>G. Can you tell me to which classes these changes belong and what we know (prediction of pancreatic sufficiency eg) about them? Thank you very much
13.03.2015
Pyo
What does Pyo mean?
13.03.2015
Ivacaftor and Lumacaftor combination
Hello, Could you tell me if this combination (Ivacaftor/Lumacaftor) has a marketing authorization and whether it is already prescribed by the CF Centers for delF508 mutations? Thank you,
13.03.2015
Achromobacter
Hello, The last sputum examination for my son showed a low colonization of Achromobacter. He had an intravenous treatment but that did not work. I would like to know if you have information on the consequences of this germ to the lungs but also whether it will worsen faster his health. Thank you in advance for your response.
13.03.2015
Research for F508del heterozygous
Hello, I would like to know about the research for people with CF with only a single gene of this type (F508del). Thank you in advance
13.03.2015
Risk for cystic fibrosis: carrier father, no carrier mother (??)
Hello, I am contacting you because I am pregnant in the 3rd month now and I have concerns about my baby and a possible disease. We have learned recently that my husband's niece (daughter of his sister) was diagnosed with cystic fibrosis. We inquired about the disease and its transmission and had blood tests with a geneticist. She asked us about our origins and family history: My husband has a Norman family and his niece is the only CF person in his family. I am from Vendée and I have no cases of CF in my family. We also learned that the niece of my husband is a carrier of two rare mutations (Y1092X and S945L). Blood tests revealed that neither my husband nor I were carriers of one of the 32 mutations of the testing kit. Until today we were expecting the result for the rare familial mutation for my husband. We talked and had understood that the antenatal diagnosis would not reveal if our child was sick or not, but if it was carrying the mutation from his father or not. Do we have it right? Today we learned that my husband carries the rare familial mutation (I do not know where it is). We are in shock. But from what we understand, the risk of having a sick child still thin ... Despite myself I need to quantify this risk. Dialogue is difficult with the geneticist who takes care of our record. I need clear answers. I also need kindness and a minimum of empathy. In his presence I do not feel it and that's why I'm posting here my questions. Can you help me quantify the risk that my child is sick? And what is the risk that I be a carrier of a rare mutation? (If I understand, being from Vendée, I have more risks than an other person?) I also wanted to know how to diagnose this disease after birth. I did some research and read that there was a sweat test. But I do not know much and I would really like to know if these tests are made on the day of birth or whether to wait a few days? And in which time the results are given ...? The antenatal diagnosis was not any more on the agenda (not giving us unconfident about the disease response), but now with the shock of the announcement, I put this decision into question. And what if the echo in the 5th month shows alarming signs? Would it not be wise to have also diagnosed the unborn to have answers the most accurate as possible? That's where I am with my questioning. Thank you in advance for all the help you can give me.
13.03.2015
Pseudomonas
Hello after blood tests, my 2.5 year old child was treated with Tobi then inhaled colimycin (because of bad tolerance of Tobi) for 3 months because blood results are very positive for pseudomonas but there is nothing in the sputum. .. but had ciprofloxacin for three weeks with tobi and still Pseudomonas negative in the Sputum but positive in blood test ... I do not understand why we find the pyo via the blood test but not via the spitting? What does it mean when one considers the cure iv? 7 months ago we discovered that there was Pseudomonas. Thank you in advance for your reply
08.03.2015
F508del/Normal Genotype and ENT symptoms
Hello, as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see?
08.03.2015
Mutation DF508 / R117H 7T
Hello, I am 20 weeks pregnant and we just learned that our baby has inherited by our mutations. My husband is a carrier of the DF508 mutation and myself the R117H 7T. Can you tell us about the symptoms that our child could have, how does this will lead in his daylife? Thank you in advance for your answer.
08.03.2015
Mutations of the same class or not?
Dear expert, Everywhere you read about different classes of mutations. I can understand that predictions cannot be made. But now I was wondering if it matters / makes a difference whether you have two mutations of the same class or 2 mutations from a different class ... And if 2 same mutations are "better" than two different ones? Best regards,
08.03.2015
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