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

[momR]

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!

 

[Justinsmama]

Hi,

Your story sounds so familiar. My son Justin had a lot of issues related to laryngomalacia (2 surgeries by 12 weeks), apnea, SEVERE reflux (shut down respiratory system - turned blue), and bradycardia as an infant. By 18 months developed asthma, and 21 had eosinophilic esophagitis. I nursed him until he was 3 1/2 years old. He had loose stools to stools that ran down his leg up until he was 4 or so. I was told it was a GI issue, food allergy, nursing, etc. He ate constantly and we were told that he did it as a behavioral issue - many kids with eosinophilic esophagitis do this. At 2 1/2 years old I took him to ped for asthma issues and the ped looked at him and asked to do a finger prick test to check his iron. His hemoglobin was 6!! We were sent directly to the hospital for confirmation testing and his hemo was, indeed, 6 and his ferritin was 1.5. Our first hemo said he must have had a GI bleed, put us on iron (6 ml ferris sulfate 220). He came up in hemoglobin but we still struggled with ferritin. After readjusting this dose, we were finally released and told he did not need any more supplements. Thank goodness our ped went ahead and followed every 3 months with blood work. His first tests were dropping and by the next, he was right back with ferritin in the single digits. We then went to another hemo at the same place (CHOP) and were placed on 10 ml of 220 (3 1/2 years old). He also had some other abnormalities such as large red blood cells and low white counts. After being cleared by GI for a cause, our hemo thought Justin might have a form of iron overload where the iron was storing in his organs instead of transferring to where it should. We had x-rays of his lungs (although no one knew what to look for) and talked about scans of the liver. The doc was not sure what to do other than to monitor the organs every few months. We then went to Hopkins for a second opinion. Our doc there thought at first there was some malabsorption issue that was being missed. Latter on, she did contact Boston Childrens (Harvard doc's) to review his case. They thought it could be a mild transport disorder.

Fast forward, at 6 he had diarrhea up to 10 times a day and was not gaining weight. We did a fecal elastase test (among all the others) and found out his fecal elastase was 147 (cut off is 200 for insufficiency but kids should be 400 or above). We ran another 6 weeks latter and he was down to 70. This was the first time we heard of CF. Justin passed a sweat test so we thought we were in the clear. The doc's then started talking about swachman diamond syndrome. This is bone marrow failure and PI. Justin had periods when his platelets dropped quite low and when he was younger his white count was always low. We thought this was possible and did not give CF too much thought at the time. Genetic testing showed 5 polymorphisms for SDS and 1 mutation for CF. We were in limbo. In the meantime, his fecal elastase level dropped to 25 and the doctors decided to stop testing. He was still not on any enzymes and his weight when he turned 7 was 40 pounds. His body mass index was below 3 percent and it physcially hurt to look at him or touch him. He was hungry all of the time but got sick to his stomache whenever he tried to eat. Because of his pork allergy, the docs were a little afraid to try enzymes. We were treated "as if" at CHOP for CF at the time - but not really considered CF with NO pulm. treatment because our pulm did not believe (yes Bill he was a CF doc in the CF Clinic) that he could have CF and pass the sweat test. This belief was confirmed by their genetics department. Once the enzymes started, he did much better and started to gain weight and be able to eat without pain. This was late August of last 2011. Unfortunately, by October he began to have "problems with his asthma". For a kid that never needed his nebulizer more than a couple of times a year, he was now using it almost every day and sometimes several times. He had two sinus infections in November-December and had a lower left lung pneumonia in Feb. Our local ER doctor (who had some CF experience) asked us to take the CD of the CT of his lung infection to Hopkins for a second opinion). He was diagnosed on Feb 17th of last year, 4 days after getting out of the hospital.
He then had 3 more infections in a short time until we got set on a schedule with VEST treatments. He has done much better since then, only two other infections since last April, and both were caught early.

My advice to you, push to find a reason for the low ferritin and weight loss. We too went from 75% weight (only 20%height - chubby baby) to 20% to below 3%. I do think it is possible for your son to have CF given his history, only time and a good CF doctor will know. Getting a diagnosis will give you power. You will know what (if anything) your child has to fight and how to fight it. Not knowing didn't help my son. . . finding out and getting treatment has him in a much better place this year than last. Please know that each parent here has been in a situation, while maybe not exactly the same, but similar enought that we are here to support you. Please lt me know if I can answer any questions from our experience (low ferritin issue - we still have him chekced once a month) or you just need a supportive ear.

Josette in PA

 

[Printer]

So the CF Specialist made a bad dx. He/She is not the first Doctor to do that and He/She will not be the last.

So what is your point of directing your comment to me?

Bill

 

[Justinsmama]

That small portion of the post was only directed to you to make clear that I followed what your wise direction typically is, in making sure that the doctor was a certified CF doctor. My point was not that a doctor made a bad diagnosis, but that I understand being a parent of a small child that has an unexplained illness. Also, if the doctor you are seein does not have an answer, there are others that can look at the puzzle and see something new. It took us some urging from our local ER doctor before we realized this. It is very freightening to have to make a change when your child is in an emergency state. I too can relate to a child with unexplained iron issues - we have been through it also. We are still new to this, and are learning our way to help our son and would love to share anything that will potentially help others.

I am not sure why you would choose to read this as a negative comment directed to you. While I understand that doctors make mistakes (I do not believe I lingered on that point at all) it is a very cold response when taken in the context of a small 7 year old who suffered the consequeces. Having suffered from pancreatic issues yourself, I am sure you feel compassion for a 6-7 year old that was literally starving to death. I would hate to see anoother child suffer through what my son did. That being said, I have always been very thankful for and respectful of your advice with regards to my son and others. After my son being told by someone, trying to be helpful but being careless in their words, that they know "the oldest living CF patient who was 60 years old" and my son being terrified, I reassured him by showing him your signature (with your age) and explained how your are an advacate for other CF patients to seek out proper treatment that will keep them healthy.

I hope I have not offended you Bill, this was never my intention.

 

[JENNYC]

Justinsmama you have helped me out greatly!! I have a dear friend right now that is in diagnostic limbo. She is unsure of everything and all doctors. Her son is 20 months old (absolutely precious!!) He has had 3 sinus surgeries and his blood levels have been continually low for no reason. He is in the 80% percentile in weight and falling. When I found out about her situation she described my daughters symptoms to a T with the exception of the good weight and blood issues. He is eating twice as much as her 5 year old and drinking twice as much as well. His stools are loose and foul and now he is iron is low as well. He is constantly ill with cold like symptoms and is currently on PICC line. I hope you don't mind but I copied your story and emailed it to her so she could see how your little one was diagnosed. She has a sweat test on the 31st. But it still is comforting to her to see other people with similiar stories...at this point she just wants a diagnoses no matter what that is I couldn't help her as far as the blood problems and good weight but your story said it all!! Thank you!!!

 

[Printer]

Justinsmama:

I have tremendous respect for you both as a mom and as your sons advocate. I was suprised to see your comment and I was taken back by it. I keep saying that the world is full of bad Doctors. About a year ago, I changed clinics, not because the Doctor was not real good but because he wasn't communicating with me. We are entitled to second opinions and proper respect.

I was not offended, just suprised. Thanks for clearing it up.

I get in enough trouble in here as it is.

Give your son my love.


Bill

 

[Justinsmama]

Bill,

Glad we got that cleared up. We will continue to be your biggest cheerleader. Keep yourself healthy because I want to be able to tell my son "I know a man with CF that lived to be over 100 years old". Superheros come in all forms!!!!

 

[Printer]

I was in the hospital, a year ago September, Mass General. A nurse came to me and told me that a month earlier, they had a patient with CF (admitted for non CF issues) who was in his 90's. Pass that on to your son.

Bill

 

[momR]

Thank josette for all of your information!! I haven been trying to keep busy between appointments and results as I feel like I get so anxious and then let down!

Since my first post, my son did get the genetic results back. He was negative on the 40 most common mutations in Caucasians. (That is what they said was tested) they never did give me a number for the sweat test, just negative.
They did many stool samples and all were negative except one that showed inflammation in the bowels. (Calprotectin)

GI - wanted to do a celiac genetic test and refer us to genecist.
We saw his hematologist this week and she redid the iron tests and did the celiac genetic test, still waiting results.

My question for you josette, since your son was also on a high dose of iron for a long time did you ever feel like it caused him problems? We wonder which came first; iron is causing all the inflammation, or the mystery problem is causing inflammstion which might be causing the malabsorption problems??
After I get the latest results, I may have more ??.

 

[Justinsmama]

Hi,

Sorry you are still going through this. When we had our stool samples done 2 years ago, we expected to find a high calpro number, but ours was normal. It was our elastase that was low and got the the point of where it could not be detected within 6 months. It is good that yours is normal, that may indicates that your child is pancreatic sufficient. We went through several endoscopies and colonoscopies looking for celiac or other GI issues. My son does has eosinophilic (allergic) esophagitis and may be affected in the lower half too. For us, the iron issues are not related to that. It may be related to CF malabsorption and/or he may have some problems thansporting to usable iron.

As far as your question of iron causing inflammation or vice versa, for Justin the GI or transport issues causes the need for iron and the only problem that may be related to taking the iron could be constipation. He has a terrible time with it (he is high risk for becoming impacted even on 2 caps of Miralax a day). When he was younger he had
loose stools too, so it was not an issue. Seems to have come along with the PI but it may make it worse. My son is still on the iron supplement (11 ml fe sulf 220) and will be for life. We have always followed monthly for monitoring since he was 2, but have just been released to every 3 months knowing that things do not really change in his absorption. One thing you will want to make sure is monitored is when they "fix" the GI issue, that he is monitored very closely to make sure he does not start to absorb the high levels of iron.

It sounds to me that whatever GI problem your little guy has is causing the iron and other mineral loss. When we first went through all of this, we were told 3 things cause iron deficiency, 1. low input (unheard of in this country - although looked at with Justin because of limited diet because of allergies) 2. malabsorption 3. some sort of internal bleeding that is causing a loss. Since you have inflammation in the bowels, this is most likily linked to it. Have they looked at any eosinophilic causes? What about Chron's? I must say, I would have never thought of CF for us at the same age your son is. Justin had well controlled asthma with few respiratory illnesses. Now he has a cold and it changes everything.

Are your GI and Hemo at the same hospital? Are they willing (once you have all of your results) to do a telephone conference to make sure you all work together as a team to find a solution? These are things that our hemo did to help us. When our GI was at another hospital, she brought in the head GI of her hospital to consult and she followed us "as needed" eventhough she was not our treating to be able to work with the hemo to find a solution.

Please let me know if I can be of any help.

Josette

 

[momR]

Hi josette,
I did think of a few more questions for you!

First to answer you, our hematologist and GI are at the same hospital and have talked. In our case we started in GI, she referred us on the hem after scopes and everything looked normal. (Biopsies only showed lactose intolerance and gastritis)
Hem did everything and monitored ever 4 weeks and decided next step would be bone marrow but she didn't think it was the cause. That's when she contacted GI and said she needed to do more as it has to be an absorption issue.

So as far as CF - he passed NB sceen, sweat test and now this genetic 40 mutation test. She, GI feels cf is unlikely. I did have two uncles with CF, does this mean we should continue testing? We see the geneticist in march, I plan to bring this up!

My son has only recently developed a weird strider noise. Which no one seems to understand why. He also takes very deep breaths as if he feels like he can't breath well. Honestly, I thought the deep breaths were do to belly pain/cramps. I assumed he was not going to complain anymore to us or was just unconsciously coping in that way. After the strider noise started, I became more concerned but the noise has no pattern really. It does occur long after he has done something physical but also other times.

Here are a few questions I thought of!

Does your son receive his iron on the day of his blood work? Have you been advised on this? At what point did stop looking for the reason for the iron? I think we are all exhausted, he has been on it a year now....did your s

 

[momR]

Oops!!!

Did your son ever receive iron by iv?
Did they ever test you or other family members? (ferritin) mine was low as was my 18 month old daughters. We did not yet test my older son. We are starting to wonder if his bowel issues are really related or if it is a genetic thing?? Maybe we are all celiac!! Ugh so frustrating! I have been pregnant and or breast feeding for the past 6 years, I feel like that could explain mine.

Oh one more thing about the deep breaths. They occur all the time everyday. He really hates the chest plate on the car seat though and tries to take a bunch before I buckle him in. He will also unbuckle when driving, it seems like he just must feel really tight or something. The ped said she thought we should see an ENT or Nuerologist for these issues. This doesn't sound right to me?? I really hate the idea of another new dr as our "story" is exhausting to retell to a new dr! I don't want to keep going to drs if they too will be unable to give us answers!! Any advice?

 

[Printer]

Your son was tested for 39 mutations, there are almost 2000 mutations, any combination of two (2) will cause CF. Forget about that test. The screening sweat that was done at the local hospital is very different than what is done at a CF CLINIC. You should ignore that screening also.

You need to take your son to a APPROVED CF CLINIC and see a CF SPECIALIST. You have CF in your family and from what you said, I would guess he is alpo PI.

Bill

 

[Julie7]

Ditto Bill's comment