deltaF508/R117H-7T mother just diagnosed

A

anonymous

New member
I gave birth to my daughter (second child)4 months ago. She has CF, a double deltaF508.
When we did gene research, my husband came back as a deltaF508 and myself a deltaF508/R117H-7T with no symptoms. I am 33 years of age. We (my husband and myself) are walking zombies. Totally numb. I am trying to find others with the same diagnoses as me, and are female. I can find many males....but no females, with no symptoms what so ever? I have yet to go do chest x-rays, pulmanary function test, more blood and a sweat test. Any informatio you can offer me?Thanks for your help and support
Kimberly 33 wcf, mother to two beautiful babies Parker w/o CF(3) and Annika wCF (4months)<img src="i/expressions/brokenheart.gif" border="0">
 
A

anonymous

New member
Hi,

I can't imagine how overwhelmed you are... I am not sure what genes I have but I was dx at 29 years old... I know that it can seem like you are in a dream esp since you don't have any symptoms... As far as your daughter, she has one of the most common genes, they are making huge advances in this disease so try to focus on that...

I hope you find lot of support here, ask lots of questions here their are so many helpful ppl.

Good luck,

Jennifer from NJ

32 with CF and Addison's disease
 
A

anonymous

New member
You were diagnosed with CF or as a carrier of the CF gene?
Have you had any digestive issues or lung issues in the past? What a shock for you--a double shock (you & daughter).
 
A

anonymous

New member
Have you had your son tested? He is mostly likely a carrier so that is something he should know when he's older.
 
A

anonymous

New member
I am 37 years old and was just diagnosed this year. I have the same mutations that you have. My daughter is also a double delta F508. She was diagnosed at 15 months of age and had genetic testing done - however, I never had genetic testing done. I was diagnosed with irritable bowel syndrome at age 32 - then just this year I began having alot of shortness of breath and was initially diagnosed with asthma. So I got tested - just something in the back of my head kept nagging me to do it. I am not presently on any medications except PRN albuterol. Good luck to you I know the devastation that you are feeling right now.

Connie
 
A

anonymous

New member
My daughter is a double DF508. We found out I had CF when we did the gene testing for her sake. My husband is a carrier of DF508. I have both the DF508 and the R117H-7T gene. I have had no symptoms. I had colds as a kid, but no respitory illness. I think I have had one x-ray done in my life. I got over the colds, only being on antibiotics probably 6 times in my life for colds. I weight 145lbs(after having a baby) I have dark circles under my eyes, but linked it to genetics(so does my mom)
My mom is a DF508, my dad is the R117H gene.
I go this month for more testing in Toronto. Pulmanary testing, x-rays, blood, and nose.
I guess that will tell all. They say this gene combination is likethe 5T for men, yet they are sterile and show no signs of CF????
This disease is such a mystery.
 
T

toomums

New member
Overall I guess I should still state that I consider myself blessed to live 33 years with no symptoms, and I have two beautiful kids.
 
K

kchapman

New member
This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. For anyone else worried about this gene combination, it's about the best one you can have for CF, with symptoms ranging from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. Luckily, my husband is not a carrier, which means that our baby will be negative for CF.
 
K

kchapman

New member
This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. For anyone else worried about this gene combination, it's about the best one you can have for CF, with symptoms ranging from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. Luckily, my husband is not a carrier, which means that our baby will be negative for CF.
 
K

kchapman

New member
This gene combination does not usually cause severe cases of CF. I was just genetically diagnosed with both the Delta F508 and R117H mutations (at 33 years old), and found out because I am pregnant. I had no known symptoms before, other than several weeks of bronchitis about every other year as a child, and pneumonia once when I was 12. I haven't had a chest cold in the past 5 years, which means that if I have symptoms of CF at all, they're only at the extreme minimum. For all I know, my digestive system works just fine. For anyone else worried about this gene combination, it's about the best one you can have for CF, with symptoms ranging from moderate lung congestion to no symptoms at all (except for men, who will most likely not have a vas deferens). Usually there are no pancreatic disorders with this gene combo. Luckily, my husband is not a carrier, which means that our baby will be negative for CF.
 
2

2perfectboys

Guest
I was told u could be carriers of two gene, and it may look like u have CF, but you really don't if they are on the same strand, could this be possible w/ any of you guys?
 
2

2perfectboys

Guest
I was told u could be carriers of two gene, and it may look like u have CF, but you really don't if they are on the same strand, could this be possible w/ any of you guys?
 
2

2perfectboys

Guest
I was told u could be carriers of two gene, and it may look like u have CF, but you really don't if they are on the same strand, could this be possible w/ any of you guys?
 
J

julie

New member
This is a good one for Steve from Ambry genetics to look at. Maybe he can offer some insight, he's really helpful!
 
J

julie

New member
This is a good one for Steve from Ambry genetics to look at. Maybe he can offer some insight, he's really helpful!
 
J

julie

New member
This is a good one for Steve from Ambry genetics to look at. Maybe he can offer some insight, he's really helpful!
 
A

Alyssa

New member
My kids both have your same mutations, see my blog page for more details.....


Did anyone notice that this was originally posted 8-03-2005? That's quite a while back -- don't know if the original poster is still here?
 
A

Alyssa

New member
My kids both have your same mutations, see my blog page for more details.....


Did anyone notice that this was originally posted 8-03-2005? That's quite a while back -- don't know if the original poster is still here?
 
A

Alyssa

New member
My kids both have your same mutations, see my blog page for more details.....


Did anyone notice that this was originally posted 8-03-2005? That's quite a while back -- don't know if the original poster is still here?
 
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mom2lillian

New member
just FYI for all of you who had carrier screening done to keep in mind that just because DH is negative for screening does not necessarily mean he is not a carrier, it means he is not a carrier for the 36 most common mutations (that is normally the panel done around here but some do a few more) out of around 1000 possibilities. There is still around a 1+% chance he is a carrier. That being said the chance of giving birth to a child with CF at that point is in same ballpark as any other chance occurance such as downs or syndrome X etc etc but I just wanted to throw it out there since IMO too many geneticists tell parents they are clear if one is not a carrier and dont fully explain.

My DH is not a carrier per the screenign but I am still in process of getting a full amplified panel on my DD just for peace of mind for exactly these types of situations everyone is describing.

I have never heard of two mutations on same strand so would love to hear answer to that question

Thanks!
 
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