new here would really like some help

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New Member

Date Joined Feb 2010
Total Posts : 2
   Posted 2/4/2010 5:09 PM (GMT -7)   
i have a 3 week old that contracted both mine and his fathers mutation of cf. mine is 711rh and dads is deltaf508. we have had the sweat test done and he scored a 50. he is gaining weight, eating like pig, breathing seems fine and has had no typical signs of cf. we go to the the pulmonologist, tomorrow for futher testing. is it possible to have 2 mutations and only be a carrier? i am very hopeful that he will not have a severe case, am i setting myself up for a let down? we new this was a possibility because i was tested when i was pregnant, we just didnt realize how it pretty much is a case by case  type of thing. just wondering if anyone else has those 2 mutations or if they have a child like mine who doesn't have any symptoms but has cf... thanks ahead of time 

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Date Joined Feb 2007
Total Posts : 1050
   Posted 2/5/2010 3:44 AM (GMT -7)   

Firstly, this seems like an awful situation to be in, not knowing is worse than knowing. I do not want to lie to you, and I do not want to build up false hopes for you.

A sweat test score of 50 borderline. Between 40 and 60 is known as the borderline/grey area. However having 2 mutations means the CFTR fault is present. If you think of genes like a book, you get half from your each of your parents. Sometimes with other conditions you only need half of that book, and it will cause problems. CF is a recessive gene, and for it to effect a person, they need 2 copies.
Alongside the CF gene in your body, are other genes, sometimes these can override parts of how the CF gene acts too.

It is complex, as the CF gene effects so many different parts. There is CFTR protein along the pancreas, liver, lungs, fallopian tubes, van deferens (sp). It gets everywhere, except the eyes, I took part in a study that proved that the CFTR protein isn't in the eyes.

People with the same gene mutations can be effected in different ways and vary in how they need to be treated.

I'm one of those people on the awkward end of the scale. I have 2 copies of DF508, the most common combination, mixed with Liverpool strain of psuedomonas, which is supposed to be one of the worst strains in the UK. I still have a lung function between 60 and 90%, but suffer badly when I have an infection. I have a brother and a friend with the same mutations. My brother does great, he needs IV antibiotics about once a year. I'm on every 3-4 months. My friend gets about a month off, then he needs 3-5 weeks at a time with a lung function of about 26%. I'm the oldest, followed by my friend then my brother.

Certain mutations of the gene can act differently. I know some people who don't have CFTR in their pancreas, or they have a very thin layer that doesn't effect anything. One of my friends seems worse than me in every way, however I'm on 3 times the amount of enzymes than him as his absorbtion of food is a lot better, but I also hold on to my weight a lot better, he's really thin.

I have heard of a person aged 36 suddenly having CF typical symptoms, and when they've been tested, it has been found that they've had CF all this time, without symptoms. It is possible to be unsymptamatic for that time. I guess with your son at least, they know that the genes are present. If any symptoms do occur, they know what they are treating striaght away and have a better idea of how to treat it. I think this new generation of kids being born and going to do a lot better than my generation, for this reason. Having the ability to hold off infections and lung damage for a lot longer, will certaintly help. I think your son is probably in one of the best situations of CF. He might not experiance any symptoms until a lot later on, when treatment will have been upgraded even more.

I read yesterday about them finishing phase 2a 28-day trial of the CF cure genetic trials. The trials have gone really well, and look very promising. Maybe one day CF will stand for Cure Found. :)

The only thing you really can do, is sit and wait. Don't set yourself up for the best or worst news. Just know you're going there for something, and you will deal with whatever happens, when it happens. Try not to worry yourself into the ground. Don't worry about what tomorrow might bring, as tomorrow is totally unpredicatable, and might be something completely di'fferent, that you're expecting. Just concentrate on being happy with your baby, being happy with him and bonding with him.

All the best

PS, I do understand your worries completely. I have been through thinking my nephew had CF, to autism. Anything little that could signify any problem at all, I worry like crazy about. I don't ever want him to be ill, or to have to suffer. For a while any little cough broke my heart, even though I KNOW he doesn't have CF. It's natural to worry, and it's natural to be concerned. It's just if you let yourself over worry, it can cause increasing stress, when things might actually be ok.

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New Member

Date Joined Feb 2010
Total Posts : 2
   Posted 2/6/2010 1:58 PM (GMT -7)   
thank you so much for your kind words and for sharing your knowledge with me... that being said we went to the drs yesterday and recived really great news.... since i passed on the 711rh and its on his 7t not his 5t they said it almost counteracts the deltaf508 so if he has any symptoms they will be very mild. they're still going to follow him for he rest of his life just to make sure, but better safe than sorry. His dr. also mentoned that they are coming out with 2 new drugs to help treat cf. i live in cleveland and rainbow baby's and childrens hospital has a leading cf center. i just feel like the world has been lifted off my shoulders, you are right when you say waiting is the hardest part.... thanks again
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