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- Disease Causing or not?
- Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA+ c.869+11C>T c.1210-12T+ (poly T 7T/9T) c.1210-12_(1210-35_?GT+ c.1766+152T>A c.2562T>G c.2909-92G>A c.3469-65C>A c.3874-200G>A A short history is my boy screen positive due to DF508 (my 11old neice is DDF508 and my daughter is a carrier), after a sweat test at 6weeks was negative he was presumed negative. He is my fourth child and I noticed he was different straight away. He has had a cough since birth which is increasing with age. I went back to doctors after he was continually getting sick with URI and cultured Heamaphilis Influenzae. from a few months of age he had chronic diareah with tummy pains and mucus in stools. He had a continual runny or blocked nose. He was again tested and sent to CF centre. Second sweat test was negative so dismissed again. After continueing to get sick and have diareah, sinus issues I ordered a full DNA test. He has had surgery to remove his adenoids due to infection and the doctor said there was excessive mucus through his sinuses. Six weeks ago he started showing signs of protein deficiecy (edemas in his feet and constantly sleeping). He has been put on creon and is a different child. He still has his sinus issues and a constant cough but I am ensuring he receieves daily airway clearence. The results from the DNA tests says that the mutation 1716G/A (legacy name) was previously thought to be not disease causing, but is has been show to have mild CF symptoms. The genetic specialist said I will have to be a sit and wait before a diagnosis is made depending on his symptoms, therefore making a diagnosis unclear. This mutation is listed as one for the trial of Kalydeco as it has some residual function. I would have thought that if it has been listed in this trial then it must be disease causing in someone? Have you got any information on the pairing of these two mutations and if they together are disease causing?
- DF508 and T7, T9 polymorphism
- Hello, my daughter is 7 months old and she has been diagnosed with CF when she was 2 1/2 months based on her clinical symptoms and sweat test result over 100. She is severely pancreatic insufficient with no lung implications so far. We performed genetic testing for her and it seems they detected delF508 and T7 and T9 polymorphism in her dna. I am a carrier for delF508 and no mutation has been detected for my husband. We would like to search for the other mutation as well as were told that T7 and T9 polymorphism don't mean anything in connection to her disease. Is this correct? I have been searching for info in relation to polymorphisms and it seems that they actually mean something in connection to a second cf mutation, but unfortunately I haven't been able to understand the medical terminology, therefore how they influence eachother and whether it has an impact on the disease. Could you kindly explain the relationship between delF508 and the above mentioned polymorphisms? Should we search for another mutation? Can it be that only one mutation and these polimorphisms caused her desease? Thank you, Ana Toma
- Please help me understand CF mutations.
- Hello, I previously asked this question which was not answered. I am hoping to receive some information. My husband and I are in the process of electing PGD and would like to know what clinical symptoms, if any, we can expect in offspring with the following mutations: Husband: one copy of F508 Del one copy each of D443Y;G576A;R668C 7T/9T Wife: one copy of M470V (no deletions or duplications, one benign sequence change) 7T/7T. My husband has CBAVD so we must elect IVF treatment. His sweat test was 40 and doctors are divided on a DX of CF. Thank you.
- Dornase alpha
- How is dornase alpha prepared or made? I have read that it is recombinant dna but from which cells is it taken?
- MDMA and E
- Hi there, I wondered if you could please tell me about the effects of MDMA and E from a systems perspective on a person that has cystic fibrosis or if there were any links to literature/information handouts anywhere? I am a health professional that has recently been asked this by an adolescent child who has been using them and we are trying to support them to NOT be using them by providing up to date scientific information but have found it difficult to find this information anywhere. Thank you.
- query - carrier
- Dear Sirs I sent a question to the cystic fibrosis organisation and they directed me onto you as it was medical question. I have just found out that myself and my sister are carriers of the cystic fibrosis gene only and do not actually have it. I wanted to know if it was true that if you are a carrier you can also show some slight symptoms of CF with lung problems etc? My sister has severe asthma (COPD) and i have asthma also and always cough a lot and have a lot of flem/mucus (sticky gunky) that comes up. Sorry to be graphic. I have read a lot of places and forums online where people say that you can have symptoms or slight symptoms show and some sites say no. I also read some scientific facts somewhere that there is more and more evidence showing this with patients coming forward? I would be very greatful if you would be able to help me with this matter?
- Manuka Honey
- I have read a paper explaining that Manuka honey could not work in CF patients because it can not be inhaled and when taken orally, it would not reach the lung. I am not scientist, hence perpaps this is a silly question, but why can manuka honey not reach the lung when taken orally, but oral antibiotics can?
- intravenous antibiotic treatment /home
- Hi,I am from Hungary and my sister has CF. She is 19 now. She has been doing well but just this week it was considered that after the 21 days tobramicyn treatment she has too much mucus. She can not breath poperly probably due to bronchial problems / may be bronchiectasis (never before). She has never been treated with IV but it seems that now this is the best solution. In Hungary the doctors just as the hospitals are disasters and the Cf centers do not work properly. My question is that if we have the money can we take her somewhere abroad within the EU for the 14 days IV Treatment (mainly Austria, but also Switzerland,Slovenia,UK)? Or even have her CF doctor abroad? In this enviroment IV treatment would weekenth her immune system which would cause other infections. Thank you for your help in advance!!!!!
- My son (aged 7) is due to start swimming with school in January. The pool used by the school is not chlorinated but the water is cleaned by ultra-violet light. Would this pose any infection risk for someone with CF? Thank you.
- Room Temperature
- What is the BEST room temperature for a person with CF?