2 teen siblings diagnosed

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StellaTX

New member
My two children were just diagnosed very late 16, 13 yrs old with F508 c 2657+5G>A. Such a shock for all of us. We are so devastated. I feel so bad that we did know sooner. I pray that they haven’t suffered too much damage. One of them shows no symptoms at all. The other had bronchitis off and on for 1.5 yrs with a chronic cough. Both are pancreatic sufficient which is good. Working with insurance to get them started on Kalydeco ASAP. Hope BCBS of IL is easy to work with but I suspect with the cost of two kids they won’t be?! Their sweat test were 105/106 and 94/95. No hospitalizations, not even a sign of a cough for the 13 yr old. 16 yr began signs of asthma 2 to 3 yrs ago. Like I said, we are just so surprised and trying learning to learn as much as possible about CF. Both are now patients at a Children’s CF Center with great doctors and resources.
 
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kenna2

Member
I'm sorry you're part of the CF community now. However, it's a good thing for them to be diagnosed later on in life. That means the symptoms are mild and that's a good thing. I wasn't diagnosed until I was 7 and didn't really need any medications (besides the preventative stuff) til I was 14. Don't look at this is a bad thing. They've always had CF and now you finally have your answers and they can be treated correctly for what they're experiencing. They have bright futures ahead of them and there are a lot of new medications coming out for CF patients to start actually treating the disease. It's so exciting. This is a great forum and the people on here are amazing and helpful. Don't hesitate to ask questions, we're all here to help and support each other.
 
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StellaTX

New member
Kenna2, thank you so much for your support and very kind words. These diagnoses have brought on such a lonely feeling in a very unfamiliar way. It is almost too much to process. I’m glad to have the support of others going through it.
 
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Lovemykids2017

New member
I'm very sorry. I am waiting on testing for my 6 year old son who got a 59 on his sweat test. None of this is easy to accept. It sounds like your kids have been very healthy until now, and that's a REALLY good sign. I hope nothing but the best for your kids and your family. There are some awesome people on these boards. My son's pulmonologist is also in research and tells us that it's not the same disease that we heard about years ago. With the new drug therapies, for many people, although not a cure, many will live relatively normal lives with symptom management.
 
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telebabe

New member
don't be devastated, please!!!! you and your kids are very very lucky! An early diagnosis is so important - I was not diagnosed till I was 36 ;-( As somebody said they are healthy and this is a very good sign. You can be pro-active now and teach them on how to handle CF! Check is Kalydeco is an option.
 
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StellaTX

New member
Yes, actually Kalydeco is being shipped tomorrow. I’m looking forward to getting my kids started on it. Especially, the one that has been symptomatic.
 
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Golubicc

New member
Welcome to this group, you have found a great group who b is always willing to share. My son is 33 and doing well, he was died at 7 and just started Kalydeco three months ago as his gene was not approved for it. It will keep your girls healthy. Keep them exercising. DON'T READ old literature on line or in books. Things are constantly changing and cfers are thriving and contributing well into adulthood and old age. Any questions just ask.
 
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fel

New member
StellaTx -- my two sons (my only children) were diagnosed at just about the same age as yours, both at once, just like you. You are lucky they can take Kalydeco -- mine are not approved. I think the biggest challenge with this kind of later (but still child) dx is that the doctors are used to parents knowing the protocols for cf by the time they are teens. For example, we didn't realized the order of treatments (Pulmozyme, Vest, and THEN Tobi) because everyone assumed we would know it from past experience. We didn't proper ways to clean nebulizers, we didn't know to have them wear a mask at the hospital, etc. We are now 5 years out, and I think we are still catching up.

Feel free to reach out if you need someone to talk to.
 
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Printer

Active member
Stella: I was diagnosed at age 47 so being dx at their ages and without symptoms is really a good thing.
 
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Lovemykids2017

New member
Wow! You're approved a getting Kalydeco so soon! That's great.

I'm curious, for my own situation, did your state do a newborn screening? And if so, did your kids not screen positive or borderline?



StellaTX said:
Yes, actually Kalydeco is being shipped tomorrow. I’m looking forward to getting my kids started on it. Especially, the one that has been symptomatic.
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