CF for dummies

[cyberhoop]

Hi everybody,

I'm new at this so please bear with me.

My name is Eric and I am an American living in Germany for the past 12 years. I have a 7 &1/2 month old daughter who was diagnosed with CF shortly after she was born. My challenge is that although I speak fluent German (more or less anyway) I'm not always sure that I understanding everything I'm being told.

For instance
-According to our CF Doctor told my wife and I that although the sweat test confirms whether or not your child has CF, it cannot gauge the severity. Is this true?
-According to our CF doctor the aproximate breakdown is as follows: Parents each have CF gene (not the disease) they have 4 children, 2 will carry the gene, 1 will not, 1 will have the disease. Is this correct? If so, then both of my parents have the gene, both of my wifes parents have the gene and all of our grandparents had the gene. Is this also correct?
-After our daughter was daignosed, my wife realized that for his whole life her brother has had frequent lung difficulties. (he is now 29) Is it possible that he has CF of an extremely mild severity and it was never diagnosed?

Thanks for your help

 

[wuffles]

Someone will probably beat me to this post by the time I finish typing! <img src="i/expressions/face-icon-small-wink.gif" border="0">

<i>According to our CF Doctor told my wife and I that although the sweat test confirms whether or not your child has CF, it cannot gauge the severity. Is this true?</i>
This is correct. The sweat test is a standard test for CF, and is very accurate. However, some people can still turn up false negatives or positives, so genetic testing is another way to diagnose CF. Genetic testing is also not fool-proof, as there are many mutations which are not found through genetic screening. Basically, there is no sure way to determine the severity of the disease until it happens. Symptoms vary greatly from person to person; some people have severe lung involvement, some have minimal. The same goes for other symptoms. There is generally some correlation between certain mutations [detected through genetic testing] and certain manifestations of the disease, but these are often totally off the mark so can't be relied upon.

<i>According to our CF doctor the aproximate breakdown is as follows: Parents each have CF gene (not the disease) they have 4 children, 2 will carry the gene, 1 will not, 1 will have the disease. Is this correct? If so, then both of my parents have the gene, both of my wifes parents have the gene and all of our grandparents had the gene. Is this also correct?</i>
It sounds like your doctor has given you a theoretical explanation of the genetics of CF. To have CF, you must have two defective copies of the gene [one from each parent]. This means that yes, both parents must carry one copy of the defective CF gene and one normal copy of the gene. This means that the statistic of 1 in 4 children from a couple will have CF is simply a rough indication of how the genetics work. It's like saying there's a 1 in 2 chance of having a girl baby, when in reality it doesn't really work that way! This means that no, your parents/grandparents/so on do not have to all carry the defective gene. You received one defective gene from one of your parents and one "normal" one, and so on through the generations. I hope that made sense, as it's quite hard to explain! I'm sure someone else can clarify this if I haven't made sense <img src="i/expressions/face-icon-small-smile.gif" border="0">

<i>After our daughter was daignosed, my wife realized that for his whole life her brother has had frequent lung difficulties. (he is now 29) Is it possible that he has CF of an extremely mild severity and it was never diagnosed?</i>
It is definitely possible that your son may also have CF. Although most people are diagnosed as young children, some people are diagnosed in their teens, 30s, even 50s or 60s in extreme cases. He should definitely get tested! In saying this, there are a number of reports that people who simply carry one defective gene [known as a carrier and do not actually have CF] can exhibit some of the symptoms of CF, although in an extremely mild form. Definitely urge him to get tested!

I hope that helped and I explained everything clearly enough <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

Thanks for the info Emma.

If I could switch gears just a bit and if you don't mind the intrusion,

-What is your CF condition like? i.e. what kind of medication do you take?
-Physical Therapy? How much, How often? When did you start?
-How old were you when you were diagnosed?
-How did you parents react upon getting the news? What did they do right? What did they do wrong?

 

[anonymous]

Hi Eric, have you been to www.cff.org yet? there is a LOT of info on that site (and it is in English).

Good Luck to you!

 

[CrystalDaniels]

Well. My Bf has 9 siblings, yes nine. lol
him, his older sister and older brother all have cystic fibrosis.
he found out when he was 21 Mandy found out when she was 24 and slint found out when he was 27.
yes it is possible for a late diagnoisis.

 

[anonymous]

I think one thing my parents did right was not to limit me on physical activity & just let me be a kid, not raise me inside a bubble.
Of course, you should take some precautions to protect your little one, but also let them have some freedom. One thing I would do is just some common sense things. Wipe their hands with antibacterial wipes after playing at the playground, visiting the doctor's office or hospital, etc. until their immune systems get built up. Keeping them away from dusty, smokey places, try to teach handwashing early on so it becomes habit, just common sense stuff.
I take enzymes with meals, take an antibiotic for 'maintenence' do breathing treatments 2X a day (Xopenex and Pulmicort) take vitimins and that's about it. Of course, more powerful antibiotics or even IV's if I have gotten a real nasty 'bug'.
Of course there are others here that have totally different meds. Each case is a little different.
Don't be afraid to ask any other questions you may have....knowledge is power.

 

[IG]

Just to clarify things on the genetic explaination.

'This means that the statistic of 1 in 4 children from a couple will have CF is simply a rough indication of how the genetics work' I'm sorry but the one thing that I was taught in my biology class is that for each child the Punnetts is the same... not carried out for four children... so what that means is that...

Actually I have this typed out on my xanga site so I'm not bothering to type it out here I'll just copy paste.
This applies to each individual child that a couple has child. If both parents are the carrier of CF then each child with have the 1/4, 1/2, 1/4 odds. The same odds will be repeated for each child they have. [just wanted to make sure that was clear, sorry if it sounds repetative]

A CFer and a Carrier, given the punnett's square equals a 1/2 of a chance of a child having the disease and a half of a chance of the child not having the disease but carrying the gene.

A carrier and a carrier having kids equals a child having the possibilities of this: 1/4 of a chance of having CF, a 1/4 of a chance of not having CF or carrying the gene, and a 1/2 of a chance of having the gene.

And... not to leave this one out... A carrier and a non carrier create a 1/2 of a chance for any child they might have to become a carrier for CF.

And a CFer and a CFer having a child creates a 100% chance that the child will have CF.

And if you want to find out what a punnett's square is, I do believe you can google it.
I actually did google it... if you want a little bit more info on genetics and stuff this looks like a good article
<a target=new class=ftalternatingbarlinklarge href="http://www.geocities.com/geneinfo/concepts/inheritedfr.html">http://www.geocities.com/geneinfo/concepts/inheritedfr.html</a>

 

[IG]

Actually I take that back here's an even better one

<a target=new class=ftalternatingbarlinklarge href="http://www.ygyh.org/cf/inherited.htm">http://www.ygyh.org/cf/inherited.htm</a>

Click on the 'Can I pass it to my children' and then in the bottom right hand corner there is a continue button/text [which is fairly hard to see on this computer] it will take you through a punnett's square and give you a lot of information on how it's passed on.

 

[anonymous]

a breakdown of the percentage of a person passing on CF (depending on their carrier status, having CF or Not being a carrier/having CF but a partner with one of those) can be found at www.cysticfibrosismaleinfertility.com under the Before you begin portion. It is an illustration that might help you out.

To answer your specific questions as someone else did
-NO the sweat test cannot guage severity, not even knowing the mutations can guage the severity. There is currently testing ongoing ot figure out what determines the severity of CF, even among siblings or identical twins with the EXACT same mutations, they have different symptoms, problems and severity. CF is a very strange, unexplainable disease sometimes.
-As far as the breakdown of the gene in your family, One or both of your parents DO have the CF gene, but at least one of them do. If it is both of your parents that carry the gene, you got "lucky" in not getting both CF mutations. It could also be just one of your parents (they can get a blood test to search for mutations if you are that interested). The same goes for your wives parents. Only after you determine your parents' carrier status (do both parents carry the gene, or just one???) can you determine which of your grandparents were carriers.
The breakdown goes like this:
Genes are strung together on Chromosomes, rodlike sturctures found in the nucleus of
each cell. Human beings have 46 chromosomes, arranged in 23 pairs. In each pair, one
chromosome is contributed by the mother, the other by the father. The gene involved in CF
is found on chromosome 7. Each person has two copies of the gene, one on each
chromosome. Because this gene is recessive, a person must inherit two genes containing
a mutation-one from the mother, one from the father-to experience the symptoms of CF. If
only one gene has a mutation, the person will be a carrier, who can pass the gene on but will
not have symptoms of the disease. From Growing Older with CF-A handboook for Adults.

-and as others have said, a late diagnisis is actually VERY common. I would recommend her brother have both a sweat test and a blood test to determine it.

Welcome to the site,

Julie (wife to Mark 24 w/CF)

 

[CFWife]

My husband was diagnosed with CF at the age of 32, so yes it is possible that your wife's brother has the disease and just wasn't diagnosed. In my opinion, he should be tested. Good luck.

 

[wuffles]

I knew someone would pick on my genetics explanation <img src="i/expressions/face-icon-small-tongue.gif" border="0"> I was trying not to get too technical, but hopefully what I said came across as similar to the Punnett's explanation.

No problem. I'll answer your other questions, although I have to say I am far from having "text-book" CF. Although, it's good to get a range of stories from different people, so I'll respond anyway! <img src="i/expressions/face-icon-small-smile.gif" border="0">

<i>What is your CF condition like? i.e. what kind of medication do you take?</i>
As far as medication goes, I take about 5 digestive enzymes (Creon) a day, two asthma puffers, a range of vitamins (multi-vitamin, E, K, Garlic + Horseradish), nasal spray. It sounds like a lot but really isn't much compared to many/most CFers. Truthfully, I hardly even notice how much medication I take. It's all part of my daily routine. My daily life is definitely different from other people's but I'm really the only one that notices. It takes a lot more effort to simply breathe (although that's probably the asthma talking as my lung function is generally very high), I sniffle a lot as my sinuses are constantly blocked, I get tired quicker and need more sleep than most people. To put this into perspective, I finished my uni degree last year, work full-time, live with my boyfriend of 4 years, play volleyball twice a week, love walking, rollerblading, music.. I really am like most other people but definitely more special.. which definitely has its great points as well as bad <img src="i/expressions/face-icon-small-smile.gif" border="0">


<i>Physical Therapy? How much, How often? When did you start?</i>
My parents did manual physio on me from when I was about 2 (I think) until around 10. I did ballet from about 3 to 12 years old, volleyball from 8, cricket in high school, so sport is where I got most of my physical therapy from. I also played the flute throughout high school which I also believe helped. Now I use the PEP occasionally, and my boyfriend does manual CPT when I am sick or feel junky.


<i>How old were you when you were diagnosed?</i>
In Australia, all babies are screened for common genetic disorders using a heelprick blood test, so I was diagnosed just after birth 21 years ago.


<i>How did you parents react upon getting the news? What did they do right? What did they do wrong?</i>
That's a toughie! I think my parents did very well. I always knew I have CF - I can never remember them telling me straight out, "You have CF", so I believe I knew from a very young age that it was just something I had that other people didn't. My parents gave me a lot of freedom relating to my treatments, and made joint decisions with my doctors to make a balance between too much medication, protecting my health and letting me be a normal kid. However, they also were always concerned for my health and were very diligent in taking me to appointments, making sure I took my tablets, etc. I really can't say they did much wrong <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

Everyone,

Thank you very much for your responses. I really appreciate them.

In the several months since I first learned that my daughter has CF, I've come to grips with it, but admittedly I'm still angry. I guess that's part of the reason that its taken me so long to start learning about it rather than just 'dealing with it.'

Does that seem strange?

I would be very interested in any stories that any of you might like to share. Stories of good times, bad times, the toughest part about it,...etc

Anyway, thanks again.
Eric

 

[anonymous]

Hi Eric, just wanted to share my daughters website with you. She is 2 and has CF. The website has her CF journal on it as well as lots of pictures and a couple of video clips. We just passed our "1 year anniversary" of finding out that she has CF and the past year has definately been full of ups and downs. I was more angry than my husband, but that is just our personality difference.
I think we have both come to grips with the diagnosis and have thankfully moved on to living our lives to the fullest.

Hugs,
Kelli (mom of Sydney 2wcf)
<a target=new class=ftalternatingbarlinklarge href="http://members.tripod.com/sydneymyers-ivil/
">http://members.tripod.com/sydneymyers-ivil/
</a>

 

[anonymous]

OK, here we go, CF for Dummies Part II!!

My wife just called and said that we rcvd notice that our daughter has her 'first' infection. (Kime) sp? Unfortunately, I don't have the paperwork in front of me, so I'm working w/o a net.

Q1- Does anyone recognize this word? Does it sound or look like something familiar? Is this a typical infection?
Q2- According to the Physical Therapist, the fact that Maya is experiencing her first infection only now is very good. Is this true or is he just trying to be nice?
Q3- The only reason that we know she has this infection (for which she must now take an antibiotic for 2-3 weeks) is because we rcvd a notice based on her last visit. Beyond that, she seems fine. Can anyone shed some light on this?

Thanks,

Eric (Father to Maya, 8Months W/CF)

 

[anonymous]

OK I found the paperwork. A 'Rachenabstrich' or throat smear indicated that she has a Staphylokokken / Staphylococcal infection.

I checked the web and found that these types of infections can very bad or no big deal. They are apparently very common. Can anyone comment on this?

Thanks. Eric

 

[Mockingbird]

I have a staph infection right now! =-) Mine's bad because it has resistances to antibiotics. That's what makes some bad and others not, I think. There may be other stuff involved, though. The doctors would have picked up on what strain it is with the throat smear, though, so if they're only giving one antibiotic for a couple weeks, I'd say it's no big deal, and should hopefully get killed by the antibiotics quickly. =-)

 

[NoDayButToday]

Ditto what Mockingbird said.

Also, since Maya is only 8 months, and this is her first encounter with staph (I believe?), it is probably a very 'weak' staph, meaning that a lot of antibiotics would be effective against it.