New to CF

[anonymous]

<b>Hi all..

I just found out today that my great neice who will be 14 months old on Aug 30th has CF along with her brother who is a month and a half old. I do not know all the specifics, I do know they will be going back in for a second sweat test to confirm the results. The Dr said that he's 99% sure that they have CF just wants to cover all bases.

I have started to read some about CF but would like to hear from the experts as to what my neice can do to help her children.

Please let me know where she goes from here and what services are out there if any to help.

Thank you.

Aunt Karla</b>

 

[Alyssa]

The most important thing for her to do is to get to a CFF (cystic fibrosis foundation) accredited facility, with a positive diagnosis and a doctor who deals with CF day in and day out, the kids will be in good hands -- Sounds like the doctor that is testing both kids is already pretty much on the ball (any doctor who doesn't mess around with testing the siblings is good in my book) He has probably done an excellent job to this point but unless he is at a CFF clinic, they kids should transfer their care to a certified clinic.

What else can you tell us about the symptoms the kids are having? What prompted the doctor to do the sweat tests?

CF can run a wide range of symptoms and severity -- for a perspective on a couple of mild cases, read my blog page about my kids.

 

[JazzysMom]

Going with a positive CF dx this is what I suggest. There will be meds, a regiment & a lot of info flowing when dealing with the care of both. I suggest the parents get a notebook/log of some sort (one for each child) & start writing things down. Things they are told, questions, thoughts or concerns to address as well as the answers to these. It will be a good tool to use. Getting into a routine & sticking with it as much as possible might be the most difficult. CF is an illness that isnt always visible so people tend to "forget" that that CFer is truly sick. Having an early dx is good news since the idea is to try & prevent damage so the earlier the better. The bad thing is that sometimes it becomes difficult since the communications skills arent there yet to tell the difference between normal childhood issues & what is CF related. I highly recommend you or they join us on a regular basis for input. Tho the doctors know much of the medical aspect, things can differ & experience from a CFer can come in handy. We hope to hear more from you & keep us updated, please!

 

[anonymous]

Alyssa..

Thanks for writing. Both my great neice and nephew were tested genetically for CF and it came back positive. Then the Dr did a sweat test and that too came back positive. They will be testing my neice soon to see if either her or her boyfriend is a carrier. Is it common to have both test come back positive.

My great neice was hospitalized off and on for 5 months this winter/spring. She was in for respitory issues. She was diagnosed with Asthma before she turned one. When her brother was born he had some breathing issues and needed to remain in the hospital for 7-10 days on antibiotics and oxygen. The Dr being proactive decided to look into reason for his and his sister respitory issues. Sure enough it was caused by CF. My neice is quite over-whelmed. She has two kids under 2 yrs of age.

My son who is 9 yrs old was tested for CF when he was 6 months old. His came back negative. He had lung damage due to merconium pneumonia when he was born. He retracted in his ribcage for 6 months..that's why he was tested just to rule it out. He was diagnosed with a different genetic condition at the age of 20 months. He has Angelman Syndrome.

I understand what it's like having a child with issues, that is why I am trying to help my neice. Thanks again for writing.

Aunt Karla

 

[JazzysMom]

If your great niece & nephew have CF then their parents are carriers. I would think the only reason for your niece & her BF (who I am assuming is the Dad) to be tested is to determine which gene came from which parent. Otherwise as long as the kids have 2 CF genes thats all that really matters plus the sweat test confirmation.

 

[Alyssa]

To answer your question "Is it common to have both tests (genetic and sweat) come back positive" -- I'd have to say yes "mostly" In text book cases yes, you would always expect them both to come back positive. There are also many cases out there that people have a hard time getting diagnosed because they have one or two rare mutations or they happen to have pretty good functioning chloride channels so their sweat test numbers are normal or near normal -- sounds like in the case of the kids you are talking about neither of those things are a issue so you really don't need to worry about it -- I find it interesting that a doctor would test genetically and then sweat test -- it's usually the other way around, but again not important in this case if you already know for sure the genetic test results were positive -- that means they did find two CF genes in each of the kids. That along with symptoms is enough for a diagnosis -- a positive sweat test is even more evidence added to the pile.

Why would they test the parents? In my experience, unless a parent is having symptoms they are not usually tested -- it is of little benefit to spend the money to find out what the kids genetic tests have already proved.... they got one gene from each carrier parent. Most parents do not need to know who has what gene, unless like I said before, a parent has some symptoms and they think that they may find two genes in one parent (and the other would be carrier only) Even then usually only the parent with the symptoms would need to be tested.

Like Melissa said you can expect some daily treatments and Chest Physical Therapy (CPT) to help move mucus out of the lungs. Mom is going to be very busy with two little ones that age with CF that's for sure! If you live close by I'd say she would need help with just about anything you can manage Just trying to keep up with two that age without CF can be a challenge I would also suggest she get acquainted with this website -- everyone here can help out quite a bit with a lot of experience and advice. I think there is also a yahoo group for parents with young kids with CF.

The good news is, with the correct diagnosis now it should help to keep the kids as healthy as possible because they can do some preventative things to help as well as treat their lung infections correctly as quickly with the medication that doctors know works best for those with CF.

 

[AuntKarla]

Alyssa & Melissa,<br>
<br>
Thank you so much for writing and helping me sort some information
out.  It was quite a shock to hear the positive results from
my niece about her babies.  I am hopeful that my niece will
join this forum to learn from families who are dealing with this as
well.  It helps so much to talk to people who truly know what
you are going through.<br>
<br>
<br>
Thank you again.<br>
<br>
Aunt Karla

 

[Alyssa]

Karla,

You are most welcome -- if you or your neice would like to PM me (private message) through this site feel free to do so. You can also email me at alyssa2550@yahoo.com

 

[Mommafirst]

Just a note to add to all the correct information that Alyssa gave
you.  In my case, they tested me to make sure I had just one
of my daughters 2 CF genes and therefore my husband has the other.
 In VERY rare cases, I could have had both of the genes on
just one of my chromosomes and passed both to my daughter, both on
the same chromosome -- thus  she would be a double carrier and
not  actually have CF.  Because my daughter is
asymptomatic, they wanted to make sure to rule out this possibility
before diagnosis.  I hope this makes sense, but this may be
why they are testing the parents.

 

[Ratatosk]

Karla, this is the second time I've ever heard of Angelman Syndrome -- a person I used to work with years ago has a son with this and lost his daughter a couple of years ago while awaiting a lung transplant due to complications of "interstitial lung disease" -- always wondered if she might have had CF and although tested, they couldn't identify the gene.

Anyway, welcome to the group. L