New to CF and confused

[Grandma4]

I am so new to researching this, I wondered if you could explain testing options. My 4 year old grandson has been diagnosed with failure to thrive, finger clubbing and minimal bronchial cuffing on xray. Dr. suspected CF and sweat test was high normal so she ordered DNA testing. The results state that 31 ampllicons were tested and results showed 5T_TG 12 with the only other mutation being 224G>A. It says positive as a carrier but second mutation is not consistent with CF. Can you tell me if the statement of 31 amplicons tested indicates that there are more areas that should have been tested? With his symptoms, I want to know that we have explored all DNA testing available for CF diagnosis.

Thank you very much.

 

[Jennyvb17]

There are about 1500 known mutations. They usually start the first panel with a smaller set of the most common mutations.
With those symptoms I would suggest finding your closest certified cf center and ask for further genetic panel testing.
Check cff.org for the certified centers.
Hopefully you can find the correct diagnosis no matter what it is.

 

[Grandma4]

I will check out cff.org, thank you so much for giving me a direction to go. His Dr. says she knows something is going on and is ordering more testing, like chest CT but I don't think she has ordered any more Genetic testing. I will question her about this. It is so great that there is a forum to go to for education; it helps myself, Mom and Dad feel like we are accomplishing something productive while we wait for answers about our wonderful little boy.

 

[Printer]

Almost every PCP and pead in the US can't even spell Cystic Fibrosis much less diagnose it. There are almost 2000 known mutations, any two will cause CF. A newborn screening is ONLY for the 32 most common mutations. Therefore she tested for only 32 of a possible 2000. You do the math.

This Doctor should, refer your grandchild to the nearest Approved Cystic Fibrosis Center to see a CF SPECIALIST.

Bill

 

[2roses]

Grandma4: Your grandson and his parents are blessed to have you! I have a concern about the docs ordering a chest CT because of the radiation. CTs have a lot more radiation than chest X-rays, though they show a lot more detail abt damage in the lungs. Maybe it's just me, but unless it helps your grandson improve I'd hold off on that until CF is firmly diagnosed/ruled out through gene testing. Pleeeeeease pursue CF testing and pulmonary and GI care at a certified CF care center ASAP. Some are better than others, but at least they are familiar with CF and must meet care metrics to be certified.

Our thoughts and prayers are with you!

 

[Grandma4]

Thank you all for taking the time to share info. with me. My Grandson has been referred to Loma Linda and is seeing a Pediatric Pulmonologist. Is this the correct specialty to see? I checked and Loma Linda is CF certified. The Pulmomologist ordered the CT, some blood work and a stool test. She has said nothing about doing any more Genetic testing. I am having a hard time understanding how my husband and I have never had any family history of CF. There are several members of my husband's family, including him, who have moderate to severe asthma. It makes me wonder if they have been misdiagnosed. Now we are waiting for the test results. As far as doing the CT, the Dr. seems to think it is important to see what is causing the bronchial cuffing and possibly help with the diagnosis of CF. Can someone tell me if it is common for this to be missed on newborn screening?

 

[Oboe]

I am having a hard time understanding how my husband and I have never had any family history of CF.

A pulmonologist would be the doctor to see, yes. Also, carriers are typically asymptomatic. I'm the only one in my family with CF with two siblings who are perfectly healthy. A lot of us are the winners of the genetic lottery, so to speak.

 

[Allansarmy]

I am having a hard time understanding how my husband and I have never had any family history of CF.

Same thing happened with my son. Now we knew that my wife was a carrier as her sister had CF. We never dreamed that anyone on my side of the family has ever passed the trait down through the years. So my son drew the genetic lottery as well. Hope all goes well with the testing. I think once you find a diagnosis as to why he is having the problem you can at least have a treatment plan. Also, having CF is not a death sentence any longer as people are living longer lives now. With the new medication on the horizon called Kalydeco, there is real hope now. God bless!

 

[Printer]

Loma Linda is a great hospital. A pulmonologist is the type of Doctor to see however all pulmonologists are not CF Specialists.

 

[athletixbc]

I am the only one in my extended family known to have CF, and my dad is one of eight siblings and my mom one of three siblings. I can't even count how many great aunts and uncles I have. There must be a hundred or more cousins. It's just very strange that in such a large family I'm the only one.