Symptoms ???

[Edna0312]

You all are probably familiar with my previous posts, but I really need some feedback on my son's symptoms.

Jonathan was born in May. He was 6lb 13oz. He apparently had a small meconium blockage that kept him from being able to pass any stool after the meconium. Had a barium enema at 2wks and saw that his colon was ballooned out with stool. But, they had no idea why he couldn't pass it. From then on, until about a month ago, I had to "help" him go by using KY and a rectal thermometer.

Now, when he was 3 mos, I decided to start him on my daughter's enzymes. Within two days, he pooped on his own. I continued to give enzymes and he continued to poop for about 3 1/2 weeks, then he stopped again. I stopped giving the enzymes then and actively persued help for him. (He also had a negative sweat test during this time.)

Finally, we got him in to see the specialist my daughter sees, but somehow they put us with the wrong doc. (this was a colleague of her doc) He really offered no answers. They are going to repeat the sweat test on Dec. 6.

The ped. is concerned because he was never past the 20 % on the growth charts, but he WAS maintaining in the 20th. Now, in the past two months he has dropped to the 5th and now below! He just turned 6mos and weighs 13lbs 12oz.

I am breast feeding him, but have been supplementing formula and cereal to help him gain weight, but nothing seems to be helping.

Any thoughts would be greatly appreciated.

In Him,

Edna
daughter 6yrs, daughter almost 3 ??CF, son 6mos ??CF

 

[EmilysMom]

Edna,
I have been in and out and haven't really seen your posts but have to ask.....where was the sweat test done? An accredited CF center? Do you know what the result was? If it was done somewhere else and done poorly or read wrong, it should be done again or have more testing done. I don't know that much about the new testing. (My daughter is almost 22), but some of the younger parents on the boards can help you with those suggestions. Your story just brings echoes of Emily's infancy into my head with what you are saying.
Younger parents....what are the newer testing protocols?

 

[Edna0312]

Barbara,

Thanks for the response. Yes, he was tested at an accredited CF center. I don't know what the numbers were, they just said it was negative. But, he was so young and didn't taste salty then. As of the past couple of months, he now tastes very salty to me. I definitely want him re-tested.

My daughter, on the other hand, never has tasted salty. (4 neg. sweat tests) But, even with her I'm not convinced. I've learned so much from you all. I still want to have the genetic testing by Ambry or Quest, because I feel like it this is CF, it most likely isn't a common mutation or we would have found out before now.

You said my story reminded you of your daughter's infancy. One thing that has me confused about Jonathan is the LACK of pooping. With my daughter it was lots and lots of mucousy, foul-smelling poop. When he has some, it is slimey, sticky, foul-smelling, and/or mucousy. I have just never heard of any baby (CF or not) NOT POOPING! And, I don't mean constipated in the since of having hard stool. Even if he goes 2 weeks, what is in there is not hard!

Thanks for taking the time to respond. I am very interested in comparing symptoms. I have learned more from you all and my own research than I have from the docs.

In Him,

Edna
daughter 6yrs, daughter almost 3 ??CF, son 6mos. ??CF

 

[EmilysMom]

I think unless CF is the doctors specialty, you are not going to get the info you want or need. The general population of doctors don't know enough about CF to be able to give accurate info. That's why most of us always suggest an accredited CF center where you can get accurate answers (not always open, honest answers) BUT those you can get here!Keep us posted!