Topics

Variant I 1027 T
I am a mother of two sons who have CF. The reason I am reaching out to you is that my sons' genetic combination is the Delta F508 and I1027T. During my research, I discovered that there are only 41 people worldwide with this particular combination and some of them are in Brittany, France. Therefore, I was encouraged by my CF Center to reach out to individuals in France who may know about this I1027T mutation and what has been successful with it. Please let me know how to access information appropriately about this.
26.09.2013
CF yes or no?
Hello, my 8-year-old daughter has health problems since birth (croup, bronchitis, pneumonia etc.). She is 119cm tall and weighs 18.5 kg. Allergy tests, blood investigations, bronchoscopy, ciliar diagnostics, x-rays etc. have already been done. She takes Viani 125® (fluticasone and salmeterol) for 3 years, however the infections stay and are treated with antibiotics (already 24 times), betamethasone orally and montelukast. CF has been excluded. Sweat test: 2007 NaCl 24 mmol/l 2011 osmolality 29 mmol/kg, chloride 7 mmol/l, collection volume 95. I have read in the internet that one can suffer from CF in spite of a negative test. What do you recommend? Is there a possibility of CF?
26.09.2013
Polymorphisms
I am in the 26th week of gestation. My husband was checked for 95% of the CF mutations and only a polymorphism was detected. Is it necessary for me to get checked, or does the polymorphism does not cause any issues, whether or not I am a carrier? Thank you.
23.09.2013
tennis on clay
Hello, I am the mother of a boy with cystic fibrosis. I play tennis and I also would like to initiate my son to this sport. However, my club includes only clay courts. Is it a danger for him? Would not be better for him to play on Quick surface (asphalt)? Thank you in advance. Cordially
23.09.2013
PCT124 in Greece
When will the drug that cures the symptoms of the mutations ending in x be available in Greece? I have the mutation G542X. Will the administration of this drug enable me to stop physiotherapy, the drugs for pseudomonas, and will my everyday life become normal? Will I have this, since nothing has been found for my other mutation, 2183AA. I feel different due to all this. I am too young and I have to explain things to other people and I must follow a set course, and if I want to have a good life I must work for it. However, I get disappointed sometimes and bored, my parents become a burden by caring for me so much. I have a good teacher and I study a lot.
23.09.2013
Premature baby and meconium plug
I gave birth to twin boys at 28 weeks of gestation. After 23 days twin B was submitted to surgery due to meconium ileus. He was fed through IV for two months. He presented with severe cholestasis, which he overcame after two months. 5 days ago we did an ultrasound investigation and he had gallbladder stones. I and my husband were checked for the 75% of the CF mutations with negative results, and the baby was checked two times at the maternity ward with negative results. Today the baby is 6 months old (3 months corrected age), gains weight normally, nearly 1 kilogram/month and has never had a cold. Should he have a sweat test? What are the chances of the test being positive for CF? Could this all be due to the IV feeding?
12.09.2013
CF Diagnosis
My nephew has recently been diagnosed with cystic fibrosis. This has been devasting news for the entire family. The genetic report received reads as follows: This individual is heterozygous for both the p.R1088C and p.G542X mutations in the CFTR gene. The combination of these mutations would be expected to cause cystic fibrosis or a CFTR related disease if they are on different chromosomes. (in trans). However the severity of the disease cannot be predicted. Family studies would be necessary to determine if these mutations are on the same chromosome (in cia or trans). I would highly appreciate if you can shed some more light on this report or provide any recomendations.
11.09.2013
Bluish toenails
Hello, I have cystic fibrosis, am 35 years old and have an FEV 1 of 85%. However, I always have bluish toenails without other findings; oxygen saturation is alright. What can be the reason for this? Is this critical?
11.09.2013
Two Class I mutations
Hi our son has two class one mutations, 3659delC and 2183AA>G. My research has shown that these are both frame shift mutations. Are there any drugs or studies for people with two Class I mutations?
11.09.2013
Mould fungus Scedosporium
Hello team, I am 38 years old and have CF. A couple of days ago I had the lung findings of scedosporium mould fungus. My physician said that this fungus cannot be treated. Is there a treatment anyhow or can I hope that the fungus disappears without treatment? The only symptom is increased cough. Best regards, S.
11.09.2013
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