Help needed

Makmomma2

New member
I am new to this forum so I apologize in advance if I don't post this in the appropriate place. I am the mother of 2. My son Mikhail will be 5 in August and my daughter Morgan turned 1 in January.

I had a complicated pregnancy with my daughter, had bleeding several times (ultrasound techs thought my placenta was detaching, docs said venous lake and placenta previa) and she would not move off my left side, docs were concerned for her growth. Morgan was delivered via C-section and ended up being 5lbs 14oz at birth. She had a choking episode on her 2nd day of life where she turned blue and required vigorous stimulation to breath again and afterward she vomited up mucous, she had 2 more episodes of this over next 3 weeks, no one seemed concerned, maybe due to delivery via C-section? She also had RSV at 1 month of age and suffered respiratory symptoms for a month with that illness. She was also on medication for GERD until about 6 months of age. She has always been small, and has never been above the 5th percentile. Her family doctors had us go in every few days for the first month for weight checks then monthly for a while but stated they were not too concerned and happy that she was at least gaining weight.

Morgan has been suffering from some GI symptoms for the past 8 months or so. We had been telling her pediatrician about her constipation, protruding rectum and bright red blood when wiping. There are times when she will strain for days before passing very large hard stools. Their recommendation was to give her milk of magnesia with mineral oil and increase juices. We tried the medication and it helped a bit but she is unable to go without it. And occasionally she would have a large loose BM with a large amount of mucous present. She will not drink juice. After months of complaints about this issue and no further investigation by her family doc we switched practices. Our first visit with the new NP and we showed her a stool sample she immediately referred us to a pediatric GI specialist. We had our first appointment with the specialist on 6/30/14 and she immediately asked if we had her tested for CF. She ordered a sweat chloride test along with tests to check for Celiac, Inflammation, food allergies, CBC and Thyroid functions. Which we completed all the next day. She diagnosed Morgan with Failure to thrive, rectal prolapse and chronic constipation and said she has several deep anal fissures. She told us to stop her current bowel meds and put her on adult dosage of Miralax and ordered us to cut back on carbohydrates and fiber, increase fruits, & vegetables, and try to cut back on breast feeding. She is currently 18 months old, and 17lbs (less than 1 percentile) and she has decreased appetite but the bowel meds seem to be helping.

Her sweat chloride test came back negative, and the doctor seemed satisfied with the results of her other blood tests. Stating the only thing she could see is Morgan tested borderline for Hypothyroid and her C Reactive Protein level was 10.5, possibly from a virus (she had symptoms of moist cough and runny nose for 3 weeks before the test). I was relieved with the results but now I am still wondering what has been bothering my little girl. I did some research on the possibility of a false negative sweat chloride test and was surprised to find that it does happen somewhat frequently. And I am wondering your take on it, should I be pushing for genetic testing? I have no family history of CF. I just cant shake the feeling like we are over looking something. Am I being paranoid?
 

jaimers

Super Moderator
some people receive a negative sweat chloride test but have two mutations found through genetic testing. given the fact that she does have some respiratory issues I think it would be wise to get a referral to a CF clinic (see www.cff.org for clinics in your area) for further evaluation. Really good of you to seek a second opinion regarding her GI issues and I think your Mother's intuition is a real thing! We are hearing more and more stories these days of people being diagnosed later in life because they didn't have classic CF symptoms right from the start (if ever) and so it was never even considered. Definitely worth getting to a CF center to be sure!
 

Makmomma2

New member
Thank you jaimers, do you know is this something her family doctor should refer her to or would I be able to just call a CF center to make an appointment? Not sure how all this would work. I just don't want to delay getting her help if it could prevent damage to her.
 

juliefaler

New member
My daughter starting having a prolapse rectum at 20 months. She was diagnosis with CF. Most have no family history of CF. Prolapse rectum is a symptom of CF. She had the most common mutations so her diagnosis was rather easy. The sweat test was the standard for a CF diagnosis, but with over 2000 mutations genetic testing is now used. My daughter was put on pancreatic enzymes and her GI issues got under control. Usually the CF clinic needs a referral.
 

Makmomma2

New member
Thank you for your response juliefaler. Did your daughter have any other symptoms before diagnosis? It's really hard not knowing what is going on with your child and they are too young to tell you specifics about their discomfort. I am so happy to hear the enzymes have helped her, I'm sure that is such a relief for her! I hope whatever the issue is with my little love, we can figure it out so we can get her feeling better and on the road to a healthier baby!
 

Makmomma2

New member
They did not, we didn't have a sample to take to GI doc just pics. We had the sample for her family doc and they just said we needed to see a specialist since it was so abnormally large in size
 

juliefaler

New member
This was years ago. I do remember before diagnosis, she had a lots of stomach pain, I first thought she was colic, but it was non stop. Failure to thrive is also common for CF but she didn't have that problem. She was always in the 50% percentile. She was alway hungry and her first words were "more" Since she was not overweight I fed her whenever and whatever she wanted. She had many many bowel movements, more than a newborn. They were loose, greasy, and not formed, even after we started her on solids. She also had reflux.
Respiratory issues happened later in life.
A mother's instinct is a powerful tool, if your gut tells you, ask and keep pushing for genetic testing. For some reasons some Drs. don't want to do it. I was told my daughter look to healthy, after I brought up CF. Changed doctors got her tested and got the results -CF. CF is such a complicated disease and sometimes the diagnosis is difficult. Hopefully you be able to rule it out.
 

Beccamom

New member
I would see a second opinion GI who sees CF patients. If CF is suspected in a child with failure to thrive the minimum a GI should do is a Fecal elastase test which tells if the child is pancreatic insufficient to where the pancreas does not function properly and so the enzymes needed to absorb fat which is necessary to utilize fat soluable vitamins is measured. If the GI did not do this test, then the GI is not experienced with CF. Also there are other medical conditions that cause pancreatic insufficiency.


They did not, we didn't have a sample to take to GI doc just pics. We had the sample for her family doc and they just said we needed to see a specialist since it was so abnormally large in size
 

Ratatosk

Administrator
Staff member
A friend of mine's daughter who has the same mutation as ds had similar symptoms -- chronic constipation whereas ds tended to have frequent not well formed stools. Her family doctor decided to run a sweat test to "rule out CF" and apparently it was off the charts. She was referred to a cf clinic and once put on enzymes and maintenance dose of miralax, completely different child. DS' had a sweat test at 3 weeks and it was a normal 32. I would push for a fecal fat test.
 

Makmomma2

New member
I am so thankful for all the advice you have given me, thank you so much! I feel better prepared for future appointments now. I know her BM's can clear a room with the smell, my son and husband clear out quick when it's diaper changing time. I did mention this to the GI doctor but she did not address it any further or ask for a sample. I will push for the test at our follow up appointment. Thank you again!
 
E

ejh1998

Guest
Hi there you really need to push for genetic testing , your story is a mirror image of mine my daughter , my daughter was severely under wait had constipation, then diarrhoea which would smell so vile the whole house smelt!
My daughter had a rectal prolapse ! I was being told it can happen in infants, my mam said we are not leaving this hospital till some tests are done! She had a gut instinct that something was seriously wrong with my daughter ! My daughter at this point was so thin we could see her spine .
We stuck to our gune and my daughter was diagnosed at 18 months , I had been spending months visiting my doctor , I felt I was going insane with worry .
Please insist on the tests , my daughter is now 15 take care
 

Makmomma2

New member
ejh1998, I am sure the diagnosis was difficult to get but at the same time it must have been somewhat of a relief so you could start the process of maintaining health for your daughter. Thank you for sharing your story with me. Did your daughter test positive for a sweat test or did you need to go through the genetic testing to get the diagnosis?
 
E

ejh1998

Guest
Hi there yes my daughter did test positive to the sweat test , but I have heard that some time children dont always test positive and need further genetic testing , also there are no other children in any if my family
 
E

ejh1998

Guest
I meant to say that there are no other children in my family with cf , I found out it came from my fathers side as my father had the faulty gene , he had lost two of his sisters died in infancy in the 1930's before cf was discovered so we presumed they both had cf
 
Top