Repeat sweat tests, crms, and one scared mom

[jsg]

Hello!

My 1 year old son was diagnosed with CRMS based on NBS (intial IRT 92). Full sequence shows Delta 508 and one mutation that two labs classify as a variation of unknown significance but the state of CA thinks is likely disease causing associated with mild CF. He has had three sweat tests: first 14/15, second 10/12 and one today at 18/21.

I'm really scared that his levels went up by ten points. The MD stated that in rare cases, they see kids start very low and climb to over 60, while most of the time they see changes of 5 to ten points between tests.

Would love to hear experiences with those with multiple sweat tests who started in normal range. Did they seem to vary between ten points up and down? Or keep going up?

Also, anyone else have a CRms diagnosis through NBS, particulary in CA? What bas been your experience?

Honestly, I spend so much of my time trying to protect my child from pseudomonias I feel terrible. I'm worried about any standing water, taking him to playgrounds and public play groups or public pools or splash pads, and constantly worry be won't live a full life span. Any advice on how people handle this is very appreciated.

 

[Ratatosk]

DS was diagnosed as a newborn before newborn screening due to meconium ileus. Genetic testing for most common mutations showed CF. He had a sweat test at 3 weeks and it was a normal 32; however, it's my understanding teeny tiny babies are difficult to test. He hasn't been tested since, though as he got older he was VERY salty when we kissed him and sweats out a LOT of salt in the summer. A friend of mine's daughter with the same mutations --- initial sweat tests around a year old were VERY high.

As for pseudo.... DS got it before he was 3 months old before I was off maternity leave. Despite SERIOUS precautions. We didn't go anywhere!!! other than the hospital and clinic, which is where he probably got it. So he started nebulized tobi and the few times he was symptomatic, he was put on Cipro and we did extra CPT.

We avoid(ed) hot tubs and splash pads where the water is just recycled thru (ish). As far as pools --- we figured he needed to learn how to swim, so we took him to lessons at the school owned pool and we knew the health dept inspector and pool manager, which put our minds at ease. There is a local water park/pool that we KNOW to avoid and wouldn't let him go to any events there. Today he swims at a nearby lake... Hasn't cultured pseudo for about 8 years...

We tried/try not to focus on the fears of what the future might bring. We knew eventually he'd be going to school. We took it one step at a time -- remained consistent in treatments. He's a normal kid, involved in activities who just has to take meds to digest his food and to keep him healthy. There are times when we worry --- when he's gotten sick, seems off. Just last week he came home with a headache and said his muscles hurt, stomach upset. Had a fever. Slept for several hours. And I panicked! But we dealt with it. Kept an eye on his symptoms, and in this case we immediately started him on Tamiflu, because despite flu shots, it's still going around our area. ​

 

[Rebjane]

I had written a post and it disappeared. Anyway, i have a daughter with CF. She is 15. in fact she has never had a sweat test because she was tested genetically. I get the worry part. It's part of being a mom. We want to protect our kids. But, let him be a baby, a little boy; that is also important for your son's life and development. He will get sick because all kids get sick. CF just makes it harder.

My daughter has very typical CF meaning; she has respiratory and digestive issues. She goes to public school and is a high achieving theater and music geek. She does everything teens do. I have always encouraged her to be involved with whatever activity makes her happy. She, I think, uses these "normal" kid things as coping mechanisms to deal with her illness. Meaning she loves school throws her heart and soul into it. She loves singing and being in musical theater. She has done soccer, softball, dance recitals, swim lesson you name it. It's exhausting.

I say just do your best and try not to beat yourself up. You can do everything right in terms of trying to keep your baby healthy and they still get sick.. We do avoid hot tubs and likely my daughter will never go scuba diving. It's ok.

 

[Rebjane]

Sorry I wanted to see if that post ok. Anyway, Good hand washing and getting vaccinations is important. Flu shots every year for everyone in the family. Herd immunity and all. .. I carry Purell in my purse. Avoid people with respiratoy illness. Things gets harder as your child gets older as they do have a say in what they do and who they hang out with. Instill healthy habits from the beginning. I mean. my daughter does not want to get sick. She does not want it to interfere with the things she wants to do which is a huge motivating factor for her getting up every day @5:30 to do her treatments before school. A funny germophobe thing I do, I will not let my daughter touch elevator buttons in the hospital EW. I just think of everyone who touched them before her. Either me or my son will press them for her

If you have any questions; I would be glad to answer them.

 

[Golubicc]

We all understand your worry and that's natural and normal but not exposing your child to life is worse then any virus. I am not saying that to be flippant, I just mean he needs to live his life with CF. My son has done all the things he wasn't suppose to do and not always with my agreeing with it but its life and he wants to live it with cf not as CF. He has only cultured pseudomonas once and it scared me so badly, we think he got it from the ocean but he would never give up the ocean and has even moved to California to be closer to it. Take all the precautions you can like washing hands, keeping people away if they are extremely sick, obviously no smoking but let him enjoy life and all it has to offer. Our cf doctor told us one day, what is having a life of you can't live it. My son was diagnosed at age 7 after having had chickenpox, tonsillitis, hand foot and mouth, ear infections etc, he played sports, swims, weighlifts in a gym, graduated college and moved to LA to pursue his dreams, he is now 33 and living and loving life. Hugs to you and your child, it's an emotional rollercoaster but our CF kids are awesome, loving, caring and compassionate people and did I mention all are so good looking.?