New cf mom

M

Meabtahi

Guest
Hi everyone. I am brand new to this forum and am hoping to connect with others in the cf world for advise and support. This past November my husband and I had our first baby - a beautiful baby girl. We were surprised when her newborn screen came back with an indeterminate irt of 65. We then had a sweat test done in which she tested at 40/41 - again indeterminate. Neither of us have cf in our families so we were just shocked and kept thinking she must be a carrier. However, her blood test revealed a delta f508 and r117h with a 7t variant. We have been told the second mutation is more mild and right now they are diagnosing her crms and will basically let her symptoms dictate her treatment. She is seeing a pediatric pulmonologist at an approved cf clinic every 3 months for the first year and if all goes well once a year after that. Right now she is gaining weight like a champ and has no cough outside of normal newborn coughs associated with eating and crying every now and then. She does taste slightly salty.

Is anyone else familiar with this combination of genes or just have any advise or words of encouragement for helping t keep her as strong and healthy as possible?

thank you!
 
P

Printer

Active member
If you GOOGLE - r112h you will find alot of information. I would suggest the JOHN HOPKINS site. If I read it correctly. Delta F508 along with R112H with a 7T Vatiant, is UNLIKELY to produce disease. She is (as is one of her parents) a CF Carrier.

Good luck,
Bill
 
S

stephen

Guest
Metabtahi;

The CFTR2.org website has some promising statistics for individuals with the mutations your daughter has. (This may be the same site Printer is referring to above.)

It shows that only 24% of individuals with these mutations are pancreatic insufficient, and that the Pseudomonas infection rate is only 25%.

The specific site page showing "Results for the patients in the database with: one copy of mutation R117H AND one copy of F508del" is:

http://www.cftr2.org/mutation.php?view=general&mutation_id=6

As I've said before, the site can be a bit confusing to use at first, but it provides a lot of information on specific mutation combinations.

For the mutations your daughter has, the statistics can be quite optimistic. Hopefully your daughter's actual experiences will be with the majority of the patients in the database with her mutations.
 
J

John O

Guest
Hi there Meabtahi,

The R117H gene is very promising and I suggest you google that R117H gene and Vertex. As for the 7 t variant no one really knows about the t variants. Then you have the DF508 gene. So your child is found to have three CF genes. To me no one can ever tell you how mild someone's CF is . I have known families to have children with the same gene mutations and have totally different outcomes. The key here is no one will know which genes are stronger in your child. Most people are only ever diagnosed with 2 CF genes. So they have what are now called modifier genes in the world of CF and your child has a modifier gene. I am not sure which gene is the modifier gene. I assume right now that is the 7 t variant which is the modifier. It is important to have a CF clinic talk to you about these genes. I know families who have children with DF508 and R117H and have different outcomes. I suggest going to John Hopkins as well to be treated. Where is your CF clinic?

I will leave with a few posts from my blog.

http://livingmydreamswithcf.blogspot.com/2013/07/q-from-newly-diagnosed-parent.html

http://livingmydreamswithcf.blogspot.com/2013/03/parents-accepting-cf-my-response.html

If you have questions please do not hesitate to ask me.

Best wishes

John
 
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