ecorn-cf: App. question list

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till what can you speak about: I am 48 years old and know since last August that I suffer from CF, 5T/9T heterozygous and F508del heterozygous. Before that period, I had according to several pulmonologists, COPD GOLD class IV. Since 2003 I go to pulmonologists. My FEV1 was 2.36 L (59 %), saturation at rest 94%, 79% at max effort. Also a sweat test has been done because I have a son with CF. The result of this was: Cl 77mmol / l Na 96mmol / l. in October 2012 my FEV1 was 0.71 l (19 %) and my saturation 87%, 78% after little effort. I've lost 8KG I the last 3 years. Since August I noticed that my stool was greasy. (so this explains the weight loss). I am very short of breath for the moment. I suffer from a lot of very sticky mucus in the lungs (my lungs are filled with sticky mucus, therefore a much too low FEV1). I have a hernia, rectumprolaps and regularly torn muscles in the chest because of the caughing. I’ve been to the pulmonologist on October 1st. The saturation at rest was 77%, he said if I weren’t a “normal person”, I should be hospitalized immediately. I also suffer from clubbing since I was 3 years old. According to medical information on mutations I suffer from a "mild form of CF”. What does "mild" mean in this case ? (I think the doctors will therefore assume that the symptoms are less severe than those who suffer from "classic" CF) .; 23.12.2013

IVF (in-vitro fertilization): First question: my boyfriend has cystic fibrosis and works in a cold room to prepare orders. Should he avoid this or not? Second question: we will need IVF because my boyfriend has cystic fibrosis. Is this supported in relation to the disease or not? I saw on websites that we need 2 years of living together, if not, it’s not covered by social security, and we must then pay. But it’s only for people without illness? Because of CF, is the coverage included with the disease? I do not know if I explained well ... And about IVF: between the paper from starting IVF, and then find out the results: how long must we wait?; 23.12.2013

Indirect contamination: Hello, We know that people with CF should be very careful about the transmissions of winter viruses and other bacteria. If you kiss someone who just kissed (or simply rubbed shoulders) a sick person (seasonal flu, sore throat, gastroenteritis ...) is there a risk of being contaminated through this third party? Cordially.; 23.12.2013

Blood pressure and heart rate in children with cystic fibrosis: Hello Can cystic fibrosis cause problems of blood pressure and / or elevated heart rate in CF adolescents (110 beats / min, he is 14 years old)? Are the two related? If so, would there be a link between cause and effect? Early infection or something else? Thank you very much in advance for your reply and thank you for all the time you spend for us. Yours.; 23.12.2013

Mutation T338I: Hello My son aged 22 months was diagnosed three weeks after the postnatal test. He has the G542X and T338I mutations. The geneticist we encountered explained that this was a rather mild form of CF. Our son has five airway clearance sessions per day, salt and vitamins ADEK, no pancreatic enzymes. He goes very well, never had bronchitis. I find the treatment heavy for a child who doesn’t look sick. I quite understand the protocol but eventhough I know that we don’t have enough elapsed time and that each case is different are you able to tell me a bit more about his mutations, if other patients in the world have the same mutations as my son’s and what is the progression of the disease on them. Thank you in advance for your answer; 23.12.2013

Need to be answered: Hello Here I ask myself many questions. My girlfriend is hospitalized since Aug 21th. She has a big problem of breath (shortness of breath), that is the reason why she’s still hospitalized. Last week she made tests: Gastroscopy, liver ultrasound and blood withdrawal. Gastroscopy shows an inflammation of the stomach and regarding ultrasound, she will get the results around the 22nd. Her stomach inflammation is due to what? About 2 weeks ago, she had already a first ultrasound of the liver. The liver was a little big. She has got an IV: is this to treat an infection or is it for something else? She also often feels nauseous. The only thing I know is she is short of breath. What does that mean exactly? Is it normal she has been so long hospitalized? I know she doesn’t always tell me everything ... Surely to protect me. So I ask myself a thousand questions ... I read everything I can find on the disease, but each case is different. I hope you can give me answers. Thank you in advance Cordially.; 23.12.2013

Life in Quebec: Hello, I would like to know how it works when we moved to Quebec regarding doctor, health insurance ... Thank you in advance; 23.12.2013

Transmission of the defective gene: My granddaughter has cystic fibrosis. Would it be possible that me, her paternal grandmother, I transmitted it because I'd be carrier of the defective gene that I would have transmitted it to my son? Thank you in advance for your answer.; 23.12.2013

CF Screening: Hello, I’m writing to get some information about CF gene screening. My girlfriend has a family relative with CF and as far as I’m concerned I’m not aware about such a case among my relatives. It doesn’t prevent us from having a chance to have a child with CF if we are both carrier. In doubt, we would like to perform a test to check if we are carriers of this gene, but we are looking for information on the procedures to do it. Could you guide me on the steps / organizations to contact / rules to perform these tests? Cordially; 17.12.2013