Cyctic Fibrosis......

[scotlass]

My friends new baby niece has just been diagnosed with Cyctic Fibrosis and as she and her family are still in a state of shock i thought i would try and get some information for her.I have visited lots of sites and got all the bare facts but i would love to hear from any one living with this disease.Good or Bad as i think real peoples advice will help.

Thank you.

 

[SueM in MN]

You probably already found this organization's website, but it is one of the best:
http://www.cff.org/

When my DDs were little, they went to a home daycare where the daycare mom's youngest DD had CF. We moved away and lost track of them.

I know that when I was in nursing school, things were much worse for children with CF. Even though there is still no cure, there have been a lot of advances in treatment and people with CF are living much healthier lives.

 

[pugdog]

As Sue said they are making progress. The University of Minnesota has figured out which gene it is and are now working on how to cure CF. Also depending on the treatment plan well determine how long they will live. Right now it is about 36 in the US. 45 in Minnesota. Partial because the leading CF researcher lives and practices here.
Hopefully they will have a cure in the next 10 years or so.

 

[SueM in MN]

As Sue said they are making progress. The University of Minnesota has figured out which gene it is and are now working on how to cure CF. Also depending on the treatment plan well determine how long they will live. Right now it is about 36 in the US. 45 in Minnesota. Partial because the leading CF researcher lives and practices here.
Hopefully they will have a cure in the next 10 years or so.

I was hoping you would come along and post, pugdog!

I remember not so long ago when 16 yrs was a very long lifespan for someone with CF. A child born right now with CF is very likely to see even more advances during his/her lifetime.

 

[Charleyann]

Treatments have come along way. It is still a long and hard road. There are many secondary illnesses that go along with CF such as diabetics, arthritis, liver disease, reflux disease etc.....


Many hospitalizations are often necessary but these kids are resilient and bounce baCK quickly! They are living life to the fullest.


My son is happy and doesn't dwell on his CF. I am sure a cure is coming soon!

Charleyann

 

[PrincessSuzanne]

This is really odd for me to run across this thread. I just found out that my cousin's baby was diagnosed with CF. The doctor told her that it was passed down the maternal side of the family and we don't know of any family members that have ever had it. I know that each parent has to be a carrier for the child to have it, but I can't find any info about the maternal link. Can anyone help me? Thanks

Suzanne

 

[SueM in MN]

This is really odd for me to run across this thread. I just found out that my cousin's baby was diagnosed with CF. The doctor told her that it was passed down the maternal side of the family and we don't know of any family members that have ever had it. I know that each parent has to be a carrier for the child to have it, but I can't find any info about the maternal link. Can anyone help me? Thanks

Suzanne

I think the doctor is wrong about the 'passing down on the maternal side of the family' information. CF would have had to be passed down on both sides of the family - a father who is a carrier can pass down a defective gene to either his sons or daughters.

Page from Emory University showing passage of the gene. CF is an autosomal recessive genetic condition, which means someone needs to inherit a copy of the disease gene from both parents. A carrier would inherit a copy from one parent; they can pass that defective gene on to their children. A carrier could get the defective gene from the father or the mother passing the gene. Here's a pretty good article about genes and heridity.

In sex linked recessive conditions, the mother's side of the family carries the illness, but CF is not sex linked recessive.

Here is a good page from the CF Foundation that covers some of the questions (specifically the 'no one in our family has ever had it question).

Here's a brochure from American College of Obstetricians and Gynecologists about testing.

 

[Charleyann]

I think the doctor is wrong about the 'passing down on the maternal side of the family' information. CF would have had to be passed down on both sides of the family - a father who is a carrier can pass down a defective gene to either his sons or daughters.

Page from Emory University showing passage of the gene. CF is an autosomal recessive genetic condition, which means someone needs to inherit a copy of the disease gene from both parents. A carrier would inherit a copy from one parent; they can pass that defective gene on to their children. A carrier could get the defective gene from the father or the mother passing the gene. Here's a pretty good article about genes and heridity.

In sex linked recessive conditions, the mother's side of the family carries the illness, but CF is not sex linked recessive.

Here is a good page from the CF Foundation that covers some of the questions (specifically the 'no one in our family has ever had it question).

Here's a brochure from American College of Obstetricians and Gynecologists about testing.

Gene comes from both parents and therefore passed on from both sides.

Charleyann

 

[SueM in MN]

Gene comes from both parents and therefore passed on from both sides.

Charleyann

thanks.
I took genetics a long time ago, but the 'mother's side carrier' just did not make sense.

 

[PrincessSuzanne]

I didn't think that sounded right either, so that is why I came here. I am a Medical Assistant and when I was going through training, I remember discussing this one in alot of detail and I didn't remember there being a link to only one parent, we were always told that both parents had to be a carrier and then only 1 of 4 of their children would get it. It has been over 14 years since I was in school, but I knew I would have read about it if there had been any different info. She is going to do a smart thing and have her tubes tied (smartest decision she has ever made).

I feel for her. She is not a very well educated young woman and her husband is alot younger and from my understanding not very bright either. Actually, I really feel for this baby. He probably won't get the care he needs, especially if what I have heard is true about them having a large number of cats in the residence.

I hope with them living in Atlanta, a doctor will refer them to Emory and she won't just go on what they are telling her. Apparently this baby is pretty sick. That side of the family has sort of sidowned us so I can't get much info except second hand.

I appreciate the info. I haven't looked at it yet, but I did try looking up some info on my own and couldn't find anything about a maternal only link.

Suzanne

 

[minkydog]

If she lives in Atlanta, I bet they'll refer her to Children's Healthcare of Atlanta. They have three children's hospitals right in Atlanta and they are one of the top 5 children's hospitals in the nation.

I wish them all the best. Back when I was in nursing school CF was very bad news,, indeed. It's still a difficult chronic illness, but the treatment and care is so much better now. A friend of mine married off her 25yo DD with CF just last year. When her DD was born, the outlook was not good. no one ever imagined that she would get married. But she goes in for her annual 90,000 mile checkup once a year and gets her meds, etc, adjusted. So far, so good.

 

[PrincessSuzanne]

If she lives in Atlanta, I bet they'll refer her to Children's Healthcare of Atlanta. They have three children's hospitals right in Atlanta and they are one of the top 5 children's hospitals in the nation.

I wish them all the best. Back when I was in nursing school CF was very bad news,, indeed. It's still a difficult chronic illness, but the treatment and care is so much better now. A friend of mine married off her 25yo DD with CF just last year. When her DD was born, the outlook was not good. no one ever imagined that she would get married. But she goes in for her annual 90,000 mile checkup once a year and gets her meds, etc, adjusted. So far, so good.

I can only pray that this child gets the care that he needs. I know he was premature, but I don't know by how much. I don't know if he is still in the hospital (assume so). As I said earlier, his grandmother (my Aunt) has pretty much dis-owned me and my mom, so what we hear is just that, hearsay. I also don't know how much help they will get with medicaid. The mother doesn't work and last I heard the father doesn't work either. They live with her parents (my aunt and uncle) and her older brother who supports them. She also has a son that is almost 2.

 

[mechurchlady]

A recessive gene such as CF can be passed down for generations undetected. A carrier 100 years ago might have had a CF child who was reported as having been sickly and died young, end of story. Some illnesses like sickle cell anemia can show some effects on the carrier. The only thing the parents can do is be tested along with siblings, children and the siblings and children of the parents' ancestors.

Being a carrier can come from a carrier reproducing with a person who is a noncarrier, a carrier or person with CF. Having CF comes from two carriers reproducing (25% chance) or a carrier reproducing with a person who has CF (50%). It may help others to know where the genes came from but it is not something to hold guilt or to wish you were in contact with family. I am a family historian and genealogist and find medical history very interesting.

 

[Chuck-PA]

Our son will turn 20 yrs old in April. Our son is on the tiny side only 5 foot four and about 130 pounds. But he is very active and healthy, he plays football, ice hockey. He is very aggressive. He is currently going to school to become a massage therapist.
To be a child with CF, both parents are carriers of the disease.

Our first CF doctor told us that prior to the 1950's, many babies were dying within the first 2 years of life and they were calling it pneumonia back then.
If you talk to your parents or grandparents or even great grandparents you may be able to find it somewhere in the family tree.
I personally had a cousin pass away in the early 1960's with the disease. My wife couldn't find it on her side at first, but both her parents had siblings who died before the age of 2 with pneumonia and this was back in the 1920's.

Every year we go to a CF seminar presented by our hospital, CHOP, and the life expectancy is in the mid to upper 30's. Doctors now have to look into adult diseases include heart disease because of the high fat and high calorie that is recommended to CF children. This is a good thing because they had never lived into adulthood as much as they are now.
I would just say, live each day to the fullest, create as many memories as you can, do not dwell on the disease, treat the child as normal as possible, and concentrate on diet and exercise. Let it be a part of everyone's life (it helps with relieving all of that stress that comes with living with a child with special needs)

 

[scotlass]

I spoke to my friend this morning and well what a difference a week makes.they are much more positive and ready to take this head on.Unlike the poor wee scone you know PrincessSuzanne (my heart goes out to her) this little girl has a very strong and loving family so she has a great base for her fight.
I hope all the medical research will keep developing and help her wee life.But what ever happens she will be loved and protected.

Your sons story is one i will be passing on Chuck-PA.
Thank you all for your replies.

 

[DVCJones]

I was told I carried the gene for CF when I was pregnant with my first DD. I was told that they screen all expectant parents or women who plan to become pregnant. I didn't know much about it. I knew it was a serious illness and didn't think that I would be a carrier. No one in my family ever had been diagnosed.

Well, SURPRISE!!! It was explained that 1 in 30 people are carriers of this gene. My DH was then tested because if he was also a carrier then my DD would have a 1 in 4 chance of having it, a 2 in 4 chance of being a carrier, and a 1 in 4 chance of NOT being a carrier. I learned that both parents need to have a copy of that gene.

Fortunately, He is not a carrier. I did however share this info with my brothers and cousins because if I am a carrier some of them probably are too.

Keeping your friend in my prayers.

 

[ntsammy5]

Our pastor and her brother both have CF. She is 38 now and doing well. Her original prognosis was not good -- her mother was told she would not live past 16. She has to go into the hospital 1-2 times a year to get cleaned out as she puts it. She is also a diabetic. But other than that she lives a normal life.

Her brother had a double lung transplant over 10 years ago and you'd never even know he had CF. He's a Lutheran minister too. They're both incredible people.

They agree that the treatments are getting better every year. And it's certainly not the death sentence it was just 20 years ago.

I hope everything goes well for your friend's family.

 

[barkley]

a friend of mine just passed away from cf complications this past summer-he lived to age 48. he was very supportive of the cf groups and felt that they provided allot of good information for patients and families.

an interesting note about my friend which his doctors and specialists found noteworthy as well-from the time he was quite young he loved acting, and participated in many school and community theatre productions. stage actors are trained to breathe in a manner to maximize their projection/volume of speech such that they can be heard idealy without the use of microphones. my dear friend could project as well as any other actor i've ever worked with, and his doctors noted that despite the severity of his cf his lung capacity was rarely as restricted (in times of normal cf health) as in comparable patients. it was'nt until the illness took such a toll that he was no longer able to act and use that breathing technique on a regular basis that his lungs appeared to reflect the 'normalicy' of the disease. he contended and discussed with therapists the value of teaching this type of technique to young cf patients so that they might incorporate it into their normal lifestyle-i don't know if this has ever been tried.

when my son was an infant he was tested for cf (negative) but i recall the children's hospital staff advising us that if he did test positive their genetics branch would reccommend not only our/dd's testing for the gene but also our parents and sibs. they said they had run across cases where until a child received a diagnosis noone in the family was aware of their carrier status, and some members had had many earlier generational deaths due to cf-only 'back then' it was attributed to the child being 'sickly', 'crib death' or written off as respitory distress during a flu or other epidemic.