Topics

ENAC
Hello, My question is complex. At the age of 22 months, my daughter has been diagnosed with CF because of gut and respiratory problems. The neonatal screening test at birth was negative (premature 33 gestaional weeks; 1.8kg) but, at diagnostic, the sweat test was highly positive (>200). Then, she had several problems, respiratory infections, maltophilia in the airways, staphylococcus and pseudomonas, that were treated by ciprofloxacin and Tobramycin. A second sweat test several months later was performed because no CFTR mutations could be found. This test was, again, very positive, with a decreased fecal elastase up to 50! Since then, several corticosteroid therapies had been necessary because of a severe airway hyperresponsiveness. As such, she had an adrenal insufficiency for more than a year, so she required a substitutive therapy with hydrocortisone. In October, we went to perform other tests to assess why, despite the absence of CFTR mutations, she had a marked phenotype. A new sweat test was then negative with a fecal elastase that came back to normal (I did not know that such decreased level could be reversible)!!! A NPD (nasal potential difference) measurement and a rectal biopsy confirmed the absence of abnormality in CFTR BUT, on the contrary, an important reaction to amiloride that led to highly suggest a problem in the ENaC channel. Since then, we don’t know anything more. What do you think of this atypical case? Are we still talking about CF? Is the evolution known? As parents, we are lost by all of this. I know that the medical doctors are also perplexed, but we need answers and need to know if other cases have been reported. Thanks for the answers you could provide me.
10.02.2014
Living in the United States of America
Hello, I am 17 and I have Cystic Fibrosis. I wish in the near future to live in the United States of America but I do not know how this great country treats people with Cystic Fibrosis. Are there CF specialized centres? Thank you in advance;-)
10.02.2014
Anal prolapse
Dear expert team, our daughter has CF and takes Kreon at hear meals! She has frequently an anal prolapse when having bowel movements (we have been told that this would be normal in CF and not serious, if it involutes spontaneously) - which is the case. She is otherwise not taking anything else for digestion! She is always pressing strongly even if the stool is always very mushy and thin. What can we do according to your opinion...we have soon another appointment in the CF center.
10.02.2014
Caries
Dear experts, my son (5 years, CF patient) has caries for the first time, at an early stage. In spite of the former detailed talks with the treating dentist about the illness, as well as about the specialties of the dental treatment in CF patients, the lady immediately does not want to take any responsibility for the treatment of my son anymore. A "sterile change unit" would be missing. According to the dentist, there would be the option of waiting until the caries "breaks through", then one could seemingly work without cooling/water. I really do not know at all what to do. Should I wait until the caries has "broken through"? Can with that the damage be not even greater? To treat a CF patient without a sterile change unti is seemingly risky (Pseudomonas)? What should I do ideally? Many thanks for your answer,
10.02.2014
Transmission
Is it contagious?
03.02.2014
ISET INSERM method
Hello I have contacted by phone the press service of INSERM [institue national de la santé et de la recherche médicale = French national institute for health and medical research] who planned, before the end of the year, the marketing of a diagnosis test. I have been told that: - this test has been transferred to the pharmaceutical company Sanofi Pasteur - it is not free, but if I have a prescription I could get it Sanofi Pasteur doesn’t communicate with an individual. I asked the association Vaincre la mucoviscidose to perform an inquiry for me. I have no solution and ask for help. I’m surprised of the silence of the association regarding this test and the answer of my question posted at 16 jun disappointed me. I hope you will give me an answer. Thank you
03.02.2014
Natural disinfectant
Being a little tired of using chemical household products very regularly (maybe too regularly) since the birth of my son with cystic fibrosis, I decided to make my own ecological disinfectant with bicarbonate of soda, white vinegar, HE lemon and of tea tree and water. Is this mixture enough disinfecting? The water it contains, can it be taken as stagnant water or is the disinfecting the role of the other used products stronger? How long may I keep my mixture? Thank you
03.02.2014
MIGLUSTAT
Hello Do you have any news regarding research about MIGLUSTAT? Thank you.
03.02.2014
Fat Diet
Hello, I am mother of a little boy with Cystic Fibrosis. I was just wondering if eating so fat could not be bad for his health. Indeed, to date there are only a few adults with cystic fibrosis so they are not affected by cholesterol, clogged arteries ... (what happens when you eat too much fat?) and there is little perspective on the evolution of the disease in adults? Is it not dangerous in the long term eating too fat? Are there studies on this? Thank you.
03.02.2014
Indoor playground
As being mother of a little girl (16 months old) with CF, I would like to show her the joys of indoor playgrounds (ball pit, slides), but I would like to know if it is possible and if there is a problem with bacteria? Thanks
03.02.2014
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