Sweat test scheduled...I have so many questions

[1princess3princes04]

Hi there. I have four children ages 8, 6, 3.5 and 21 months. My youngest is being tested for CF. My 6 year old was tested when he was 3, and his first test was inconclusive, his second was negative. My 21 month old was sent to a pediatrician (he normally sees a NP a family practice) because of his small stature. He is still in 6/9-9/12 month clothing , weighs 20 lbs on a good day, and is 30.5 inches. He has a wonderful appetite and eats a variety of foods. His stool has always been bulky. With whole food, stringy mucus at times, and very greasy/soft/SMELLY. Since my older son (the one who was previously tested) also had/has these issues, I honestly didn't think much of it. He was premature (35 weeks) so I always attributed his lung issues with that. He had numerous respiratory infections and we were in and out of the ER a lot in the last two years. Usually steriods helped. But after his failure to get out of the zero percentile for his entire existence, and his cough that comes back and forth, they are wanting to test him. I know a fair amount about CF because I grew up very close to someone who passed away fro it a few years ago. I guess my main questions are 1) if we don't know anyone in our families with it doesn't that lessen our chance of him having it? I know we both have to be carriers. I'm mixed with white (my dad is like 100% Scottish) and Puerto Rican + African American (my mom). That really lessens my chance of being a carrier doesn't it? What other conditions/diseases look like CF? Will my son only get tested once if it comes back negative the first time?

I have so many more questions, but I'll start here. Please help me out. I have no one to talk to

 

[ethan508]

Until the test comes back, I don't have much to offer but support. Are they doing sweat tests or genetic tests?

 

[Ratatosk]

Is the sweat test being done at an accredited CF facility or at a regular clinic? Based on symptoms, keep pushing for answers.

Both DH and I have no family history on either side -- genealogy going wayyyy back, yet we have a child wcf.

 

[Aboveallislove]

Dear Mom,
I'm so sorry that your little one is struggling so much and for the worry that it may be CF. This wait time is one of the hardest. To answer your questions: It is probably less likely that you are a carrier given your ethnic background because 1 in 29 Caucasians are carriers of CF; one in 46 Hispanics and one in 65 African Americans. So your dad was 1 in 29 likely to be a carrier (although Scottish might have a higher chance than the general Caucasian) and your mom less likely and you have a 50% chance of getting the gene from your dad and 50% from your mom. I know longer can do the math, but the point is yes, it is less likely than the general population of those with two parents who are Caucasian. But unfortunately, until the sweat test you won't really know anything. Those are just "odds" and can't tell you what the answer. I'm not sure what other things could have similar symptoms, but it is great they are trying to find it out. And the thing to remember is your little one is having problems and if it is CF, he will do so much better with proper treatment.

However, I can imagine how much harder this is for you having lived and seen first hand the suffering of CF. But CF today is a much different disease. They already have a drug approved that helps fix the CFTR defect and are working on gene therapy where they can slice out the bad gene and put in a good one. In fact, today, the FDA just approved the drug that helps fix the CFTR defect for kids 2 - 5 with certain mutations. So what you saw is in no way what your little one will face!!!!

A couple thoughts:
1) Make sure the sweat test is done at an accredited CF center. You can find those at cff.org.
2) Make sure they immediately order a genetic screen to determine what mutations he has if the sweat test is positive and request it is if is "borderline."

Hang in there mom. Hugs and prayers,
Love

 

[TreasureGoddess]

I agree with Aboveallislove. She's absolutely correct. Make sure you get good informative results. Sweat test at accredited center, then follow up immediately with genetic test (blood test). It's SO MUCH better to KNOW why your little one isn't growing and feeling good. If it is CF, then there will be a medical team to help him feel better, grow on pace and live healthier. I won't lie, it's still a bugger of a disease to deal with, but it's got so much potential with all the medicines already approved and in the pipeline. My son is almost 16 years old and has mid 90% lung functions. He does take more meds than his friends, but he is out there with them playing basektball, soccer, video games, running amok like a regular teenager and having a good life. We just have a few extra things he has to do (occasional hospital stays included). But live DOES go on, it gets better every day. HUGS and try not to worry as that doesn't affect the outcome.

My son wasn't diagnosed until he was about 3.5 months old. He was SO SICK, honestly dying in front of me. Within moments of his treatments beginning, you could almost SEE the child gain weight, be happy, hurt less and it was just amazing. There are many different levels of this disease and how it affects kids, so if it IS CF, you can feel comforted knowing the medical team can come up with a plan to help your kiddo feel good. HUGS!

 

[edward36]

1princess3princes04: I came across a definitive guide to Cystic Fibrosis that I believe will answer many of your questions/concerns (http://www.1stclassmed.com/blog/cystic-fibrosis-the-definitive-guide), I hope this helps you better understand Cystic Fibrosis because it definitely did for me and I wish you and your family nothing but the best of luck! (I hope it's okay to post informative links, don't wanna go against any policies)