cystic fibrosis.....

A place for moms and moms-to-be with special needs children to find support.

Moderators: B Michaelson, southernbelle, jessm, 1daysoon, reapage, Honey Bunny, unaffected, maddy, TrebleLily

cystic fibrosis.....

Postby fuel1316 » Mon Apr 06, 2009 1:32 pm

ive been lurking here since i found out my DD has CF, just hoping to get a feel for how you mommas do it with special needs babies...

for now things are pretty normal. we have to give her a pill before every single meal but aside from that... for now any ways. things are going to get tough soon enough.

i feel kinda alone. i had no idea CF ran in my family or dh's. we dont know any one with the disease...
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby dixiechicken » Mon Apr 06, 2009 6:42 pm

I met a lady in January who has a child with cystic fibrosis. We were in Austin advocating for special needs. She is a very big advocate and even has a blog to help support others. Let me dig through my stuff, and I'll get the info for you. She seemed very knowledgeable. I think her daughter is 13 or so now.
Jennifer(35) Curtis(34) Wade--5/22/07
"officially" diagnosed with CP 4/22/08
ImageImageImage
Image
User avatar
dixiechicken
Girlfriend
Girlfriend
 
Posts: 3088
Joined: Thu Sep 07, 2006 12:00 am
Location: Fort Worth, TX

Postby PixieB » Tue Apr 07, 2009 6:04 pm

CF isn't fun, but it's definitely manageable. If dd is at the level where she just needs creon before each meal then that's actually pretty good. A good friend of mine's LO was born prem, had a twisted bowel and had 70% of her intestines removed and has CF. Her daughter is cheeky and bright and very talkative. Has a gastric button and is on a pump for milk overnight to keep her calory intake high enough for her to gain weight at all.

Stay confident and do your research. The more you're familiar with the language and info surrounding the relevant conditions the better you'll do. And CF is one of those frustrating things that even if both parents are known carriers of the gene, they still have a 1:4 chance of any child they have having CF. So a rare strain of it or even a regular strain could happily be hiding in your family for generations without showing, maybe because only one parent carried it, maybe because they got lucky.

It's important that you allow yourself to grieve as you need it, and don't blame yourself. You're being a good parent by continuing to do everything you can to support your child and the challenges she'll face. Find local support groups too, the more you talk with people who personally know the condition the more confident you'll feel.
Talia Grace: born Friday 13th of July, 2007, at 27w4d gestation, 700g/1.5lbs. Nursed for 4 years
and Violet Joy: born Thursday 19th, VBAC waterbirth, 39w2d, 3.35kg/7lbs 6oz, still a booby monster, just shared it with her big sister for 18 months.
http://pics.livejournal.com/littlebutto ... y/0000scpq
Image
User avatar
PixieB
Girlfriend
Girlfriend
 
Posts: 1730
Joined: Sat Jan 27, 2007 1:00 am
Location: Australia

Postby Quinn » Thu Apr 09, 2009 2:42 pm

I don't know much about CF other than the fact that you and DH were both most likely carriers. Were you tested and was that the case? You probably already know this, but down the road if you wanted to have another you could explore IVF/PGD where they can transfer only the embies that do not have CF. Otherwise, you have that 25% chance. My DH and I did IVF/PGD because of a cancer causing mutation found on his side. We plan to undergo the procedure again sometime in the next yr or so. It is expensive and a pain but is worth it if you are able to avoid passing diseases/conditions on.

She is beautiful. Best wishes!
Me~32, DH~34
BFP naturally Sept '06 - m/c 6 wks
TTC with IVF/ICSI/PGD only due to cancer-linked genetic mutation
IVF cycle #1 (5/07) - BFP! - DS born 2/16/08
IVF cycle #2 (9/09), #3 (1/10), #4 (2/10) & #5 (4/10) - all failed (m/c, no transfers, BFN)
FET cycle #1 (5/10) - BFP! - DD born 2/1/11

Image
Image
Quinn
Star Member
Star Member
 
Posts: 305
Joined: Sat Sep 09, 2006 12:00 am

Postby fuel1316 » Thu Apr 09, 2009 4:17 pm

quinn- we HAVE to be both carriers for her to have it so there isnt a point to testing.. there has never been a cf case on eitherside of our family so needless to say were both shocked we had this.

we already looked into pgd. im not taking another chance. can i ask you, how was the pgd? you said its a pain... is it just over the top involved? can i ask how much it was? i read it starts at about $15,000... was it easy to do? what all do you have to go through?

i dont know anyone who has had it done so im curious about it. what ive read online doesnt tell much about what you go through but more about how it works (egg selection and all that) which i already know...

i also read that once you do it, they keep some of your eggs so if you want to get pg again its not as much money the seconf time, is that true?

thanks for any answers. i appreciate it
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby Quinn » Thu Apr 09, 2009 5:10 pm

fuel - the PGD is pretty much like a regular IVF cycle. In our case, the mutation we were doing the PGD for was very newly discovered, so we had to give the genetics lab some blood samples beforehand and it took a couple of months for them to familiarize themselves with our mutation. (Or as they call it, "develop the probe") With CF I dont think that would be the case. It is probably one of the more common reasons that people do PGD.

The procedure was not bad at all! And I am not great with needles. You do the IVF through your local clinic and then they work with a PGD lab. We used Genesis Genetics. They are one of the top PGD labs in the country. I think a regular IVF cycle was roughly $12K through the clinic we used and then the PGD part was an extra $5K. So they go through the normal process, stimulation and retrieval, then we did ICSI to ensure we would have the optimal # of fertilized eggs. We ended up with only 5 fertilized which I was REALLY disappointed about! I was only 27 when we went thru it and I was hoping for many more. They biopsied those 5 and sent the cells to the PGD lab. Luckily, 4 of our embies were unaffected. By day 5, 2 of those had survived, so we transferred both, and ended up with a healthy singleton.

I don't think it is common to freeze the unfertilized eggs for future cycles, but they would definitely be able to freeze any healthy embies for future transfers. The problem is that with PGD, you end up with fewer snowbabies because they have to survive the biopsy, the waiting period, and they have to be unaffected. So you definitely have fewer leftover.

In our case 50% of our embies were affected but in yours, only 25% would be affected so I think you would have great success. PM me if you have any other questions.. I feel like I am babbling!
Me~32, DH~34
BFP naturally Sept '06 - m/c 6 wks
TTC with IVF/ICSI/PGD only due to cancer-linked genetic mutation
IVF cycle #1 (5/07) - BFP! - DS born 2/16/08
IVF cycle #2 (9/09), #3 (1/10), #4 (2/10) & #5 (4/10) - all failed (m/c, no transfers, BFN)
FET cycle #1 (5/10) - BFP! - DD born 2/1/11

Image
Image
Quinn
Star Member
Star Member
 
Posts: 305
Joined: Sat Sep 09, 2006 12:00 am

Postby fuel1316 » Thu Apr 09, 2009 6:00 pm

thank you for all the info. thats amazing that they can do all that now. im glad they were alble to do that for you even with your mutation being so new.

i doubt i will have any problem with the cf. every site ive been to says that pgd was pretty much made for cf and alzhimers so any place i go should be fine.
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby dalar » Wed Apr 22, 2009 4:22 pm

I just found out that we have to get my DD tested for CF...can I ask you what you DD sys were and why they chose to test her for it?
Me 28 DH 29 DD 2
Image
dalar
Angel
Angel
 
Posts: 513
Joined: Sat Apr 05, 2008 12:00 am

Postby fuel1316 » Sun Apr 26, 2009 8:21 pm

when dd was born she wasnt pooping while we were in the hospital. her stomach was becoming distended. they sent her for an enima and it didnt work. they did an x-ray and she had a meconium black in her intestines. she had to have surgery to remove it. the meconium block is a sign of CF or hischprungs disease. her hischprungs biopsy came back normal so she got a test for CF. she also had it testing for in her newborn screening test so she had 2 blood tests and both came back positive.

she doesnt have any lung symptoms (yet) but she is pancreative INsuficient. before we got her on enzymes, she had ALOT of poopy diapers. 6-7 a day. now that shes on her enzymes she has about 3. she was also FTT (failure to thrive) because she could absorb fat (pancreative INsuficient) so she never gained weight until she got on her meds.

why are they testing your LO?
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby dalar » Thu Apr 30, 2009 2:53 pm

Well she ended up having pneumonia for over 6 weeks ( 3 doses of antibiotics) along with a horrible rattle in her lungs that never seemed to go away...well at her last check up her lungs looked a little better but she still had the really bad rattle and my doc was concerned that it could be CF so she ordered her to get that test done and the pulmologist decided to do an upper GI on her as well since she had passed (which I just found out was mandatory) her new born screening of CF..so he wasn't to concerned but still wants to rule it out along with the upper GI...but what is weird is that my doc decided to put her on a new drug and within 24 hours of taking it her (never ending) rattle was gone, so I don't know if it was a wonder drug or what, but they still want to test her to make sure nothing else is wrong or that the pneumonia won't come back, but other then that she had never had any of the symptoms of CF other then reoccurring pneumonia..So we go in on the 12 of may for all her testing and hopefully all turns out well! BTW you DD is beautiful!
Me 28 DH 29 DD 2
Image
dalar
Angel
Angel
 
Posts: 513
Joined: Sat Apr 05, 2008 12:00 am

Postby fuel1316 » Thu Apr 30, 2009 6:04 pm

hmm well he might pass the newborn screen and still have it. there are 1500 cf gene defects and the deltaF508 gene makes up 90% of all cf cases (my dd has both deltaF508 genes {you need 2 genes to have cf}) so they really only test for the few most common genes so if your lo has one of the uncommon ones you would never know...

i hope she comes back fine.. also this isnt 100% but it was true for my dd.. cf used to be diagnosed by licking the babys forehead.....

lick your LOs forehead and see if its salty.... but again it could taste fine but still have it but i think in most cases you can tell that way
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby Nina3117 » Sun May 10, 2009 6:17 pm

Hey there,
I'm a fellow march momma, and my little princess has been going through hell. She is getting tested on tuesday for CF. She had the bowel preforation, the never ending rattle, the salty skin, very thick mucus secretions and failure to thrive. They are doing a sweat test on her, as she has passed all the blood tests, and since DH and I did IVF before we know we are not carriers, but there is always a chance for a mutation.

Gwen is adorable. I am glad she is doing well on her meds. :D
Nina ~ 26
DH ~ 30
DS ~ 1
DD ~ Born March 11, 2009
:angel: 5 Weeks
Image
Image
User avatar
Nina3117
Girlfriend
Girlfriend
 
Posts: 842
Joined: Thu Aug 10, 2006 12:00 am

Postby fuel1316 » Sun May 10, 2009 8:51 pm

oh sweety im sorry. i had no idea that cf could "mutate" like that...

i posted on your latest update in the march boards. i know what your going through. gwen was in the nicu for over 3 weeks. surgery, feeding tubes, iv fats/nutrition, she was intubated after her surgery, thrush, failure to thrive... everything that could be thrown at us....

i read that cf causes salty skin and i went to see gwen in the nicu the very next day and i kissed her forehead and licked my lips. she was overly salty. i knew right then that she had cf before any blood or sweat test results.

i hope your LO doesnt have this. its not easy... did she have a meconium block or anything? is that what caused the perforation?
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Postby Nina3117 » Mon May 11, 2009 7:19 am

They are not sure what caused the preforation, so that is why they are testing for everything. The preforation was in the greater curvature of her stomach but then when it preforated she became septic which then ate away at her intestine so that is why she had to have two surgeries.

I did lick her forehead and it doesn't taste salty so who knows???? We will know for sure on tuesday.

I didn't know it could mutate either but i guess there is a 1-2% chance.

I remember thinking to myself when gwen was in the nicu and you were posting how hard it must have been for you and my heart broke for you. now i know exactly how you feel. it just doesn't seem fair! all this time is passing in the hospital when it should be spent cuddling and playing and bonding at home.
Nina ~ 26
DH ~ 30
DS ~ 1
DD ~ Born March 11, 2009
:angel: 5 Weeks
Image
Image
User avatar
Nina3117
Girlfriend
Girlfriend
 
Posts: 842
Joined: Thu Aug 10, 2006 12:00 am

Postby fuel1316 » Mon May 11, 2009 10:52 am

i was thinking about it earlier.... CF has 1500 different gene mutations. there are like only 5 common genes that people test for. so when you did IVF and the blood work and newborn screen test, they probably only tested for the most common genes. it would take too long and too much blood to test for all 1500 of them.

i see it alot on the CF forums. alot of kids fail the sweat test so they know they have CF but they pass the blood test. so they have cf but they dont know the gene they have. my dd has double Delta F508 (the MOST common gene. she has 2 copies of it-1 from me and 1 from dh so its double) but you could have 2 rarer mutations and never know because they dont test for it. kwim?

i really hope thats not the case. you said she has a rattle to? my dd is always coughing. its only gotten worse.....

was her stomach distended before she perferated? sounds like maybe she didnt pass all her meconium and she got blocked.. is that what the DR said happened?

im still looking for your march updates. i hope she starts to get better soon. its just the pits having your baby in the nicu... it made me feel like i wasnt a mom. every one here had their baby at home and i didnt and i felt like i didnt even have a baby :( it really hurt and i feel like it put a strain on my boding with her...
Chris & Elisa Married October 5th 2007
Image

Image
User avatar
fuel1316
Girlfriend
Girlfriend
 
Posts: 3491
Joined: Mon Jun 30, 2008 12:00 am

Next

Return to Special Needs Babies

cron