Problems with Diagnosis -- In Progress

[Edna0312]

I have noticed while on this forum, a very common thread---Getting the doctor to take you seriously enough to pursue the issue. So, I have started this topic to vent and tell my story...

My first daughter born in 1999. Healthy as can be. Second daughter, Leila, born Dec. 2002. Everything seemed fine at first only she was very jaundiced and had to have a "Bili-light". But she overcame that and passed meconium well. Then, when she began to have her first real BMs, I noticed right away something didn't seem right. Every BM was mucousy, extremely foul smelling, and sticky. I talked to the Ped., and he assured me that she was perfectly fine and some breastfed babies' poop looks like that. So, I left it alone for a little while....Still, same poop, excessive gas (that was also very foul smelling), and spitting up like crazy! I was told she was maybe protein intolerant, lactose intolerant, or maybe had acid reflux,....But, nobody could say for sure what was wrong. She was gaining weight, although always in the 20-25%. I just had a gut feeling that something else was wrong, but didn't know what to do or where to turn. So I began to research myself on the internet.

Finally, I got a referral to see a Ped. GI Dr. By this time she was 9mos. old and eating some solid foods, but still mainly breastfed. He basically told me that she was fine and that I was overprotective!! "But sure, if you want to stop b/f and start her on Alimentum or Nutramigen, I have no problem with it." I started her on Alimentum, and she gained 2 lbs. in one month! I thought that was it. Well, same poop problem! I tried to reason with this dr., but found I was getting nowhere, so began searching for another one

Gotta run......will finish later

Edna

 

[anonymous]

You should ask for, no, actually demand a sweat test...this will hopefully ease your mind and determine if your child has CF. Thankfully my doc did a sweat test on my daughter (even though at the time he thougth I was nuts for requesting one). Unfortunately it came back positive, but she was diagnosed early, so that helped a ton! best of luck to you! Let us know what happens! We will be praying for you! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[julie]

Edna, I'd love to hear the rest!!

-anxiously waiting <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[Michelle]

Edna, I understand your frustration . To make a long story short, I asked Grayson's pediatrician about CF when Grayson was 5 months old. He blew me off. Unfortunately, he wasn't diagnosed with CF until he was 7 years old thanks to a different pediatrician who admitted that he just didn't know what was wrong him. You gotta love a doctor who can rise above his ego when a child's health is a stake.

 

[Edna0312]

Okay..................I'm back to finish! Sorry about that!

So, in the meantime, while searching for another dr., Leila continued to have very bad bouts of stomach pain and gas. And at the same time, eating everything she could find! I demanded a sweat test, for which he thought I was crazy, and it was neg. By the way, the last straw with the dr was when he asked me how I knew she was having tummy pain. He said "How do you know it's not a headache?" Oh, my God!!! I could have choked him!!!!!! And, this was a SPECIALIST in a big city!!!!

Michelle, I noticed what you said about the pediatrician. Well, fortunately through all of this, I have a GREAT pediatrician!! He has admitted several times that he doesn't know what is wrong and that he's very frustrated by that!

Anyway.....Finally, just two months before she turned two, (last October, we found another Ped. GI who immediately suspected CF. He ordered more blood work to rule out Shwacmann's? syndrome, and another sweat test done in a CF accredited center. Everything negative! So, he concluded she had pancreatic insufficency for NO REASON. Started her on Creon, and within 1 week, she had her very first formed bowel movement!! He then decided that if the enzymes were working, just leave it at that. At the time, I agreed with him because she had been through so much and was really traumatized.

Did I mention that after she started walking, around 1 yr old, she started to become bow-legged. It got worse and worse, and before I knew it we were at a Ped Orthopaedic Specialist having them checked. Nothing found.

Fast-forward to Jan. of this year......I noticed a brown spot on one of her teeth, and made an appt with a Ped. Dentist. He said she had many teeth with very soft enamel, and that the enamel was actually chipping away leaving the tooth open to decay. I was frustrated, and couldn't help but think that this had something to do with whatever is wrong with her because we knew she had some malabsorption.

Okay........................so now. I gave birth to a beautiful baby boy in May. His name is Jonathan. He is perfect.....only, he didn't poop! Well, he did pass meconium in the first few days, then he just quit. I took him to the dr. again and again, but they couldn't tell me anything, except that my kids would probably be written about in a medical journal one day!! Can you believe that?! They finally did a barium enema when he was 3wks old and said he had a small meconium blockage but that he was severely constipated. The dr. said he was really too young for meds. So, I used a rectal thermometer for the next 2 months. Every three days or so I tried to help him go. The bm was so sticky it looked like glue. I thought, no wonder he can't pass this!!

So, last week I made a decision to start him on Leila's enzymes and see what happens. He started them on Tue. I gave them when I nursed him during the day. On Wed. night, he pooped on his own!!!! Then again on Thur. morning! I could not believe it. Again on Sun. and again on this Tue! I am excited that he is pooping, but speechless too!

I passed the word along to my pediatrician, and now have an appt at a university medical center to see another specialist on Aug. 30. I hope we get answers this time. I'm not going to stop until I do!!

Thanks for listening to my story. Please share yours.

In Search of Answers,

Edna

Daughter, 5yrs; Leila, 2 1/2yrs ??CF; Jonathan, 3mos. ??CF

 

[anonymous]

Have you considered having DNA testing on your children? They should undergo the Ambry genetics test (to test for all known mutations). The sweat test CAN give false negative results (although false positives don't happen). Maybe you should push for that. Clearly your son, CF or not, is having the same pancreatic problems as your daughter so I would imagine he also needs to be on enzymes. Certainly, be speaking to a GI specialist and not just your regular pediatrician.

Keep us informed. Good luck!

Jena
4yr old son with cf
1 yr old daughter no cf

 

[anonymous]

Actually, you can have false positives on the sweat test. Common causes of false positives are addison's disease, hypothyroidism, and a form of diabetes that is related to the kidneys I think? Usually false positives occur in adults. Here's a website that discuses the sweat test and false negatives/positives.

<a target=new class=ftalternatingbarlinklarge href="http://labtestsonline.org/understanding/analytes/sweat_chloride/test.html">http://labtestsonline.org/understanding/analytes/sweat_chloride/test.html</a>

 

[anonymous]

Edna,

The genetics testing sounds like the best way to go, just to be sure. Your story sounds similiar to mine when my son was a baby. He's 30 now and does have CF, but we went through his first year with him not gaining weight and having frequent bulky stools. He did have the intestinal blockage at birth, but the surgeon ruled CF out because it was caused by something called "vitellian artery remnant" that wrapped around the intestine before birth. At first they put him on a special formula used in premature babies, and it did help him gain weight but he didn't keep it down very well. It also tasted awful! He was very fussy and obviously didn't feel well, plus he was behind in his development and it was a real effort for him to crawl. Finally he stopped tolerating the Pregestimil and was started on a soy formula. He then stopped gaining weight altogether. When he was a year old, his pediatrician consulted with the doctor that had done his surgery and he was the one who suggested we have a sweat test done. His results were negative, but at the high end of normal (around 40). He also tested his stool for the presence of digestive enzymes, which showed that he was deficient. His doctor told us then that he could very possibly have CF even though the sweat test was negative and that he wanted to start him on enzyme replacement right away. We did, and he began gaining weight right away. When he was 2, we consulted with another doctor in our area who specializes in treating CF patients and he told us that it was his opinion that our son had CF. He repeated the sweat test, using a different technique, and this time his results were positive.

I think you should continue to press for a definite diagnosis because the sooner your child can be treated for CF, the better. It's good that you are already giving enzymes, but there may be other treatments and medicines needed if he does have CF. My prayers are with you!

 

[julie]

Edna,

I agree with what everyone else recommends, get a blood test on both of your children. Most tests at hospitals are used to diagnose 20-35 of the most common mutations, a labratory called genzyme can detect up to 85 and then ambry genetics can test for the 1000 known mutations. Most people have the most success and best diagnosis with Ambry genetics (if you go to msn.com and type ambry into the search engine, it will pull them up) and it is the company we used to rule me out as a carrier when Mark and I were planning to do IVF. It sounds like you are already a "fighter" so I will just encourage you to continue doing that until you get answers for your children.

Please keep us updated and if you have any questions!

 

[Edna0312]

Thank you all for your responses!!! Since I joined this forum, I have learned so much!! I now feel empowered an ready to face this and get to the bottom of it!

We are going to Bowman-Gray University Research Hospital in Winston-Salem, N.C. next week. I know that I will demand an Ambry test. I think from all we have been through, that if my kids do have CF, it won't be a common mutation of the gene. Please pray that we will have answers this time, no matter what they might be. I just feel like I could deal better if I knew what I was facing.

Thank you all again, and may God truly bless you.


Edna

 

[anonymous]

My son Eddie is 6 years old now, but after he was born he had lots of bowel problems also. I was in the drs office 2-3 times per week. The dr had continuously put the "poop" issue off (along with some other concerns of mine). Unfortunately, I had NO knowledge of cf. At 3 months old, my child was severely malnurished. We spent 8 weeks in the hospital trying to get him straight. Demand the Sweat Test. It was almost too late for us!

Hope this helps,
Hollie www.hunterobear@aol.com

 

[anonymous]

The DNA test is acurate and they should do it to make sure they did it for my son he also had a few sweat test done as well but was sick when they did it and the level's where out of range and then one time it came back negative but it was deffinate with DNA .