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Austin Babies
CagleBaby
member
Back from the appointment
CagleBaby
member
So we found out that she has one CF mutation and one unknow. They are not able to tell us if the second mutation is a CF mutation or not. They said it is not a known mutation, but it has the charateristics (sp?) of a CF one. They are going to keep an eye on her and do some treatment as if she has CF. I was told that every year they confirm more and more mutations. We will see the genetic dr again next week as well as a follow up with her GI, and the CF clinic. Thanks for all the t&p's
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Re: Back from the appointment
*hugs* well sounds like some answers with a sprinkle of unknown still.
Is there a treatment plan? Do they think things will even out quickly?
Oh wow. How are you doing emotionally?
What does this mean for her in terms of treatments--you said they do some treatments as if she has CF-what would those be? Will they improve or reduce the symptoms she's been having, help weight gain, etc?
Big hugs to you!!
I really hope that whatever treatments they are able to give her make a big difference in her comfort levels, happiness, and quality of life.
Continued (((hugs))) for you all.
How frustrating and scary to have a half explanation. At least it sounds like there is some plans being put in place though.
How are you doing? How is your DH?
this. thinking of all of you
This. T&P sent your way.
I hope you see a big difference with the enzymes. I am so glad they are treating her instead of doing a wait and see thing. The people at CF clinic should have a lot more answers for you (I am going to be there next week too). If you want more info on what typical CF treatments include, I can share, but I'm sure you also have a lot to process right now.
Edited because I misread part of the OP
Hopefully the treatment plan will help out. Continued thoughts and prayers your family's way...
**hugs**
As usual, Rssn says it better than I could.
This, 100%. I'm glad they're making progress, and hope the treatment plan makes a big difference in her (and all of your) well being. hugs
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Same here. And I know that Mainer will likely be a load of info and support for you, but I wanted to add that a coworker of mine has a 2yo son who was diagnosed with CF as a tiny infant. I know they are very involved in the CF Foundation and have a great network of support. I can certainly get you in contact with them if you'd like some more resources and info from a CF-parent perspective.
When 3 Became 4