3.5 yr old low ferritin, has never had formed stool and being tested for CF PI-Help!

momR

New member
Hello,

I am new to this site and my son is currently in the process of being tested for CF. Here is a brief history as we have a long story! :)

I breastfed until 17 months, at 18 months my son caught Rotavirus. (we were living overseas and they did not vaccinate) After Rotavirus, we realized his diapers were still very mushy, smelly, and frequent. He was always a great eater and always hungry. The more he ate the more frequent his stools were, up to 6+ a day, but never formed. We watched closely and tried to link it to a food he was eating. We had him allergy tested (skin and RAST) with all negative results. At 2.5 we demanded that some tests be done as this just didn't seem normal! He had a lot of blood work done and some stool samples for parasites, viruses, and blood. All samples were negative however his blood showed that his ferritin was 3 and his serum was 5, for the six months prior he had been taking a multivitamin with iron. He begin supplements (5ml of ferrous sulfate daily) and we had to go through the food diary with a nutritionist. They agreed that it was not diet related.

Fast forward, we moved back to the USA in late August and had them do more blood work. His ferritin was now only at 5. They sent us to a GI to figure out why he was not absorbing the iron and why he still had not had a formed stool but rather these large, mushy, frequent stools.

He has been blood tested for Celiac at least 4 times. THe GI did some x-rays, more stool samples, and full scopes with biopsies for fructose intolerance, lactose intolerance, and celiac. THe results showed that he had gastritis of the stomach and was lactose intolerant. Everything else was "normal" looking. So he started zantac and then later switched to prevacid. They added 700mg calcium and D3, and we continued with the iron and multivitamin. The GI said we needed to see a Hematologist. The Hematologist has again done many blood tests and some stool samples. He had a sweat chloride test that was negative, although I was not given an actual number. His vitamin D is also low. Two weeks ago the GI said she wanted to do the CF genetic blood test. He did have a newborn screen at 9 months which was negative. The GI also "saw" one of his diapers while we were in the office this last time. (he is not potty trained yet due to all of the messy, loose stools) She sent it away for tests but did not say what. She had mentioned PI tests, so I assume from reading here the elastase.

He has not had any respiratory issues. He seems to have ups and downs as far as complaining about pain around his belly button and how much he wants to eat. His appetite seems to be getting worse, but I have mixed feelings as if this is from all of the extra meds/supplements he is taking? His stools are always very large, mushy (like an oatmeal consistency) and wet or watery. Other times they have a gravel/sand consistency

Does he sound PI? Anyone have experience with low ferritin that is not able to get out of the single digits? He will be 3.5yr next month and weighs 31 lbs, As a breastfed baby he was always in the 90% but as dropped down to the 25% now.

I am stil waiting for the genetic test results. Should I push for the full test or does this not sound like PI in CF? Any other ideas? This April it will be TWO years since we started trying to figure him out! It is exhausting for all of us and we are just so ready to help him!

Thank You!
 

Printer

Active member
As someone who is now 100% PI, I would say that you should thank your GI-Dr for her agressiveness. Having said that, your son should be immediatly taken to an APPROVED CF CLINIC and be seen by a CF SPECIALIST.

THere are almost 2000 CF mutations, any two together will cause CF. The newborn screening is for less than 200 mutations, so disregard that finding. A sweat test and a FULL CF SEQUENCING could/should be done at the CF CENTER.

Bill
 

Ratatosk

Administrator
Staff member
It's my understanding that breast milk is easier to digest and sometimes PI isn't noticed until there's a switch to formula or milk. DS was diagnosed shortly after birth due to a bowel obstruction. Until we got his enzymes figured out, his stools were never well formed, never a normal color. Mostly soft and fluffly, shiny like cake frosting. They'd break apart easiliy in the toilet and leave a greasy ring at the water line. I would push for full genetic testing. The fecal elastase test will help as well to determine PI. Keep pushing for answers because even if it's not cf there's something wrong healthwise that needs to be resolved.
 

JENNYC

New member
I don't know if this is true for everyone but when Abby was that age she would eat 2 to 3 times as much food as I would and drink until I'm surprised she didn't grow gills! Her diapers were very loose and very frequent and there's no way to describe the smell of those diapers! But what upset me so much was her stomach would literally swell until she looked actually pregnant! It was awful...she never complained but it looked so painful...she looked like the babies you see on tv from the third world countries. Her dr tried to tell me she was swallowing air! I wish I could attach a picture so you could see. I just wonder if his stomach is distended like Abby's did. I later found out it was indeed because her bodies was not breaking down her food and the second we started enzymes she ate normal amounts and I got a normal kid. Good luck!
 

Printer

Active member
IF you tell me where you live (nearest big city) I'll tell you where the nearest APPROVED CF CLINIC is.

Bill
 

momR

New member
Thank you so much for the replies thus far!

Printer - All of our Hematologist and GI appts are through DMC Detroit. When we had the Sweat Chloride test, we were sent to the specialty center, where everyone there was getting sweat tests! So I assume it was done through the CF center? I think I looked online and DMC does have a CF clinic. I know that my GI who took the blood for the CF genetic test got the form from the Pulmonary Dr she had spoke to about him. (That is why I do not know exactly how many mutations as she said she did not know, but that this was the basic test they use?) Wouldn't one of these Drs need to refer us onto the CF clinic?

His belly can look swollen at times, but not all the time. In fact first thing in the morning, before eating breakfast he looks sooooo skinny!

Thank You!!
 

Printer

Active member
Massachusetts General Hospital is am APPROVED CF CLINIC and has more than 2000 Doctors on staff. Only 7 Doctors are CF Specialists. You need to be seeing a CF SPECIALIST.

Bill
 

Printer

Active member
I understand that you are in Michigan. I was using MGH to show how you can be at a CF Center without seeing a CF Specialist. Ask whoever you are seeing, to get you into the CF CLINIC.

Bill
 
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