Nephew w/ possible CF

[anonymous]

Hi everyone out there...

My nephew who just turned 1 on December 12 has been having a problem eating since he was a newborn. He doesn't seem interested in food. To make a long long story short, he has just been labled "Failure To Thrive" He has plateued in growth and is losing weight (he is only 18 lbs) and probably about 24 Inches tall. The docs are thinking possible reflux but also CF. I guess my question is...Have any of your children had any of these symptoms?

Any suggestions or words of advice would be greatly appreciated...

Thanks,
Debra
(A worried Aunt)

 

[anonymous]

My son was 4 weeks old and "failure to thrive" was his main concern. He was only weighing 11 pounds at 9 months old

 

[lovemygirl]

My daughter was diagnosed with CF because of failure to thrive as well. She was 8 weeks old and weighed about 5 lbs. The only thing that makes me think your nephew does not have CF is that you say he is not interested in food. Most patients with CF eat more than normal because they have trouble digesting. Before diagnosis our daughter would eat about every 1-2 hours and then have a bowel movement right after.
There are many eating disorders which may be contributing to his condition as well and I think if the sweat test comes back negative then that may be the next thing to look at.
I hope that you find the answers you are looking for soon.

 

[anonymous]

Thanks! I didn't think it could be CF either, but I guess with the failure to thrive and stuff, I guess they have to look at everything. Thanks for your sharing your story!

 

[allie1]

Be glad your nephew has doctors that are willing to rule out CF. My daughter also had failure to thrive and they never thought to test her for CF. It took them 2 1/2 years to diagnose her. Good luck!

Amy

 

[anonymous]

Why did it take them so long? They haven't tested him for it yet, but they said it could be a possibility. What kind of test did your child have? Sweat Test? Blood? Did you know that you and your husband were carriers? I think for rght now they should test my sister in law first to see if she is a carrier and if not, then they can rule it out, right? Don't mom and dad have to be carriers of the gene?

Sorry, I just have so many questions...

 

[anonymous]

It is much easier to test the child with a sweat test than to test your sister in law (to find out she is a carrier). The sweat test (if done properly) should give you quick and accurate results. It is painless for the child and test results can be generated the same day, although it could take a few days longer for them to start processing the test.

Testing for carrier status is more tricky - blood has to be drawn and then sent off to check for possible mutations - even then, they only test for the most common mutations and your sister in law could be a carrier of a less common mutation that isn't tested for. Results can take a couple of weeks.

 

[allie1]

I'm not sure why it took them so long. All the signs were there but they chose not to investigate. They told me she was just constipated, although she was having 5-8 BMs a day. Needless to say, we have switched pediatricians. My husband and I had no idea we were carriers. There are no cases of CF on either side of our family. My daughter had the sweat test. It doesn't hurt but she hated it. She called them her "funny bandaids" b/c she said they made her arms feel funny.

Good luck and keep the questions coming. That's the only way to get the answers you may need.

Does your nephew have frequent, foul smelling stools?

Amy

 

[anonymous]

Yes, mom and dad must both carry a defective gene. Ambry Genetics is the one lab that tests for over 1000 gene mutations. Other labs may only test for the most common mutations. I agree that the sweat test would give you the fastest results. When our daughter tested positive we found out within an hour of the test.

Good luck!

Maria (mother of three daughters, the youngest, Samantha w/cf)

 

[Jenni]

My daughter was 15 pounds at a yr old. She is now 32 pounds and going to be 5 this month. She was just tested for cf a month ago and was positive. She also had failure to thrive and developmental delay. She did have reflux so severe that they did surgery at 9 months old. She has had a lot of other complications to though. I hope this helped. It will get easier.