Setting up CHOP appointments, are we really doing this again?

Little Man's biggest issue right now is his anemia.  The hematologist here feels it is nothing but iron deficiency anemia and he will continue to have it with the diet he is on. As if I can just change that? We need a second opinion before he needs a 3rd blood transfusion.  Maybe this would be a benefit of going back to CHOP as well?  To at least have assurances that they acknowledge the FPIES mechanisms into considerations of why he continues to fight such threatening anemia.

No one, no one wants to feed my child more than I do. But how many times a day do you give your child something that will hurt them? Something is NOT right in his gut, and he will continue to build these reactions until we figure it out. And then he'll have no foods left to try because his gut will have pushed everything over his limit and attacked it. THEN we will be in more trouble than we are now.  We have a great GI, helping us at every step; but it is clear that we need more heads in the game, more opinions to get to some next steps.
So, it is decided.  With our GI's support, we will get appointments lined up at CHOP.  We called and immediately got a follow up appointment with Allergy for Aug.23. I have NO idea how we are getting there or how we are paying for yet another trip out east but I really feel we need to do this- for Allergy, GI and Hematology appointments, all while we are there.

Little Man still weighs 24#, he is 18% for height and 7th% for weight at today's appt. No weight gain in many weeks, months? We need to get labs done, check CBC so we can see how his hemoglobin is doing, and GI wants to run a full immune panel as well (something he had done in the very beginning) to have fresh labs done for CHOP. We also need to do IV iron again soon. We await to hear if/when our GI got his other appts scheduled for, so we can work on finalizing the plans....

Time for CHOP follow up?

We prepared all weekend for to discuss the plan further with our GI doctor, we were beginning to feel alone again.  The isolation that comes when the doctors simply do not know what to do next and your child is getting more sick by the day.  It is a scary beyond description isolation.  We've already been down that road, alone.  We don't want to be there again.  We discuss with the GI that they would like to see us push through some reaction symptoms, to possibly trial steroids, to just try something.  We aren't getting anywhere with the plan we've had; but we are all nervous about pushing ahead and making him more sick- especially as he's already sliding...although over the past week he seems to have been turning a corner again? 

We talk more about his biopsy results and that they show that he has inflammation which results in some villi damage but that he does not have atrophy, like he did in Dec.when we did the TPN last. We know he would benefit from the added calories/nutrients to help him heal faster but he IS holding- his weight is holding, his appetite is holding, he is holding. AND the past few days, he's been doing well. And really, he's done more well than not, since his transfusion in June - so maybe this inflammation is from before that and he is on the upscale of healing?

We've discussed getting him a follow up at CHOP- it's been a year and that was the plan....to return for a follow up.  And it is becoming more obvious we need not only a follow up with Allergy, but a consult with GI and with hematology as well.  We discuss this with our GI and she is in support of us going back and getting some further insights before we make next steps.

We have a good discussion about where we've been, where we are at now and where we are going....I break down, it's been a really stressful week, I'm over tired and I've begun to fear for my little boys life. Not how he is right now- he's stable, doing ok actually but how did we get back to severe anemia? Why does he have blood in his stools and how many more blood transfusions will he have before we figure this out? I can not just sit here and treat symptoms like this, I need to be proactive in his care again....we need to move ahead of where he is at.

We decide that we can hold off on TPN for now, there is just too many other things at play here and he seems to be stable- despite the ulcer-like inflammation we visualized on scope, his body is coping. He has started drinking more of his bottles and appears to be responding well to the new/change in probitoics; so we agree that we can wait. IF he doesn't turn around, starts to lose weight, or something we do decide to do, pushes him over- we can do TPN then. GI's main goal is to maintain Little Man's health while he grows and thrives. Good, exactly our goal as well.

This is a huge relief, and my head is spinning....what a long day...

Scope results

Initial scope findings showed inflammation in the stomach and duodenum, similar to how it has looked in the past. Colonscopy was clear, despite having continued blood in stools. We would wait for the biopsy results to assess more but initial findings were concerning for the course we have been on. What could be causing this? My mind races to the fails he has had recently, to the new things in his diet, to a darned if you do, darned if you don’t place in the road.

Our GI doctor is perplexed and will discuss things further with us when we get biopsy results back. I e-mailed Dr.J for her insights to which she replies how, from their studies, she is beginning to find how there are two sets of FPIES kids- ones who respond to the elemental/elimination diet and ones who do not, whose immune systems are different. This makes a lot of sense for what we see among FPIES kids- those that are typical and classic and those that are atypical and then a spectrum in between- which equates to a lot of variables in reactions, there must be just as many variables in treatments.

I have said for months that we need to do individualized treatment, think outside of the box, follow Little man’s signs and symptoms to find his path to healing. With the biopsy results still pending, we head to see an MD trained in Functional medicine, to explore this path to healing. The consult could not have come soon enough as clearly we need a different path to heal Little man and help him thrive.

Next steps...

As promised, I am going to attempt to write about our new GI doctor and experience.    You see, I am still processing through how so very awesome she is, and the perfect fit for us and, we hope, someone to help us continue to solve our little FPIES puzzle.  As many know, I have struggled not only finding Little man's diagnosis but the team of physicians that would help me care for his needs enveloping this chronic illness.    This chronic illness that has become complex, so my drive to find the specialists he needs has been strong.   I can't do this on my own, no matter how strong I am, no matter my convictions, my instincts....I did not go to medical school and I need help making sure I am keeping him healthy through this.  

I may finally have this, help....and a team that is not only recognizing and acknowledging his diagnosis for what it is but is anxious to help with the ill effects he has suffered from it.   Amazing, truly amazing.  This journey has been long and we are no where near at the end of the road yet but to have a TEAM will help assure Little Man stays healthier despite his FPIES and will help support my caring for him through it.

With the transfusion successfully behind us on Monday morning, we were able to have a great discussion with the new GI we arranged to have Little Man's care switched over to.   Right away she was saying things that echoed my thoughts....much like we already have with our pediatrician -- someone who "gets" us, someone who hears and understands our concerns and uses that to help guide treatment within their knowledge and experience.  I have had a drive to only include physician's that I can trust....this is a clinical diagnosis, trust is big.  But clinical diagnosis aside, I have always felt this way about doctors.   You should always feel a trust in the medical professional that you depending on to assist you with any illness....this trust comes into play deeply when you/your child is very ill and your focus goes to only their immediate needs and not their medical record.   I need to be able to trust that the physicians caring for my children trust me, and I trust them.  

The GI doctor and I talked about past reactions, she wanted to know details of which foods they were, time frames, anything I could tell her.   Well, what couldn't I tell her?  I have kept a log from April on, and I had pages of notes from before that even.   I referenced back to this and I created a chart for her -- although it was 20pages long, I wanted her to know and see the patterns to his reactions....the "build" one's, the immediate ones, the questionable ones, and how we got to this point we are at now.....She loved it!  It was exactly what she wanted, and the format was perfect for her own self-declared OCD!   She wanted this list to help her understand MY perspective, not only what the many notes from the chart have to say but MY perspective that may not be included as well in the chart notes.  She wanted these records so we could leave the past in the past and only continue to move forward but not forgetting where we came from so taking what we need to learn from the past and utilizing it but always moving forward.  Little Man's health is top priority. My thoughts exactly.

Finding the source of his bleeding, or malabsorbtion, or what-is-making-his-iron-go-so-low "puzzle" is a priority for her.  So, she orders a Meckels Scan to check to be sure he does not have a Meckels diveritculum that could be causing pain and blood in stools.   After a whole day being NPO, the scan was finally done at 4pm and the results were read later - negative.  He does not have a Meckels diverticulum.    This was one of those times when that is both good news and bad news at the same time.   Good news that he doesn't have it and require surgery to remove it; but bad news because it would explain something and it is something that they could fix right away!   So, moving on....

The next test will be an iron absorption challenge.    This will test to see if he is absorbing his iron in the small intestine the way he should be.  We didn't go on to discuss a future scope but that would likely be next steps if this tests is also "negative".   The great GI we saw last week (for a 2nd opinion/resource/support) agreed that he would recommend a scope as well as checks on his other vitamin blood levels for clues into his absorbption.   I hope we solve that soon because last night, he had a diaper with blood in it.   Barely noticeable and it actually was "negative" on the hemocult test (blood in stool) but it may have been a sample from outside of the area in the diaper where the blood was.   The GI doctor and nurse last night both saw the diaper themselves.   The GI doctor is calling him her little "puzzle" (again, echoing my thoughts!)....he has been a puzzle.  

The key difference with her calling Little Man's FPIES a puzzle is that she isn't utilizing that to dismiss it but want to solve it more.  She said she would call it "Atypical FPIES" in that his presentation and complexity is not the typical course (he didn't read the research literature).   Maybe this is because his FPIES trigger is corn?  Corn is in so many things, his body has been "attacked" off and on for so long.  How much can one little body take? 

Corn is where his FPIES was born, dairy is scary, rice was not nice.  But soy - soy has always been questionable.  Clearly his body was not tolerating it at the time and we did not continue it after a few weeks of symptoms that were adding up.   But reviewing notes now, it could have been the corn syrup in the formula we were using, it could have been the rice he was getting at the time, or another food yet unidentified.   Two of our other boys were dairy intolerant, but did fine on soy; they also both outgrew their dairy intolerance's.   Discussions with Allergists and the new GI and we feel we have all of these things going for him; and the need for improved nutrition, and we're in the hospital in a routine by now....we decided to challenge soy!  

A soy pass would open up a lot of windows.   It is still a plant based protein, so the iron wouldn't be that much different than the iron he is getting now.   But soy is in as many things as corn- so to not have to worry about soy would be huge.    Preservatives and additives in foods, "processed on same equipment" foods, vitamins, legumes, and of course SOY!   And that only includes food- what about all the non-food?  Bath soap, toothpaste, crayons,....Ok, I'm getting ahead of myself because we are only 4hrs. in to his soy challenge but he has had 4oz. and is doing GREAT.  

It has been a whirlwind couple days and I will have more to update on later but I hope things puts a little window to how things have been for Little man over the past few days....

Pink cheeks

Little man has been spiraling and we were hoping this wasn't really happening again.  Hoping we could get a handle on things, that maybe it was just because of his general anemia, maybe we've been too busy, maybe he is just getting used to be carried.   By Thursday evening, I started to put more of his symptoms of the past week together, I had completed some logs for the week.... 

Let me pause here to talk about my logs.  I have kept track of little man's every ounce, reaction, symptom, and diaper since April.  I simply created a template in a word document, and we keep it in the kitchen.  It has helped on days when I am not home, it has helped to see patterns, it helps to look over things for the 2nd time when I am entering them in the computer (now at 80pages worth!).  

I used to try and do it every other day or so, but after finding his baseline- there is less to fill in except the ounces of his feedings and his diapers and then a few quick observations about the day or his sleeping patterns.   A few weeks ago, he got a crumb....this may have been the beginning of that slide.  Or is it from plums?  Or is something else going on?  Is he even absorbing his oral iron?  What is going on with Little man??  What do we do?  

Well, by Friday morning - my instincts were telling me that I would need to get a lab check on him along with the weight check I was planning on doing....that if we waited through the weekend we would likely end up in the same places we have before on Sunday afternoons with a very, scary sick little boy.  So, a quick call to the pediatrician's office and of course she orders his labs to be done after his weight check.   Weight check reveals a slight drop in his weights, which wasn't surprising as he has not been eating....like I last posted, a lot of coaxing just to get him to take a minimum of calories....

I was barely home from getting the lab draw done, little man was so very tired- asleep in the van, when the nurse called with the results....his hemoglobin had fallen to 5!!   My anxiety took over, and I simply cried, I ache for my little man.   My little man has been sick right under our noses....my instincts were right but not soon enough...how long had he been low like this?  What would we need to do now?  We have been so scared of a blood transfusion.  Of course, our pediatrician called us and decided to admit him for either IV iron transfusion or blood transfusion.

Because of the complexity of his FPIES and the need for his care to involve a care team, Little man has a new pediatrician.   This pediatrician is a consultant at the hospital, and was on this weekend.   We met with him after getting checked in.   We had a good discussion about where we were going with Little man's care, and how to best help him now.   His opinion was to do a blood transfusion, that he needed the red blood cells now- not an IV iron where he could potentially react and his body would still have to build up his red blood stores from the iron being put in.   We worried about reactions to both- IV iron and blood.   We decided that since he was being monitored, we could wait until morning to start anything so that we could all have some time to think about it....and pray.  

We knew what we had to do, it was time.   We just wanted to be assured it would be done in the safest way for little man's specific needs.   Not only was I worried about a transfusion reaction, or a blood product reaction, those worries were minimal compared to my worry about his low IgA and what that meant for him to receive blood, as well as just a reaction where his body would recognize foreign proteins on the blood and reject it.   I expressed all these concerns to the consultant pediatrician and he patiently addressed every one.  We were to think about it overnight and let him know in the morning.  We would proceed, we would put this in the doctors hands, by the power of God. 

The pediatrician not only listened but heard my concerns and he went one step further, to assure little man's safety.   They treated little man as if he was IgA deficient (which he is only low- not completely deficient).  With an IgA deficient recipient, the blood is either from an IgA deficient donor or it is washed- and washing it washes away proteins and particles that an IgA deficient person would 'attack'.    They were taking every precaution.    We had to trust that God was putting Little man on this path for a reason....

The transfusion started late in the day, around 3pm. It was a little uncomfortable for him at first.  Thankfully, little man's aunty K was able to come to be with his brothers so both his daddy and I could be with him.  

He tolerated this first bag well, and began to "perk up" at the end.

He had some sleep disturbance that night- seems like he is having some reflux/stomach pains and we are not sure what from but we haven't had reflux in so many months but it all comes back with a terrible familiarity. 

The next morning we found out his body responded nicely to the 50ml of packed red blood cells,going from 5.1 to 6.9 Hemoglobin!!    We proceeded with 100ml of packed red blood cells the next afternoon and tolerated this well too.    That evening, all the nurses were so excited to see his pink lips again- noting that his lips had become flush with his pale/pasty face.....I was noticing his pink cheeks....

This morning, his labs came back and his hemoglobin jumped to 10.5!!!  Such great news!! SOMETHING we finally have conquered!!  He tolerated it well and doesn't seem to be suffering any adverse affects from it.   Well, there is that reflux that reared it's ugly head again in the middle of the night again.   We are worried about what caused this decline....is he losing blood somewhere? Does he have a bleeding ulcer?  A GI bleed? Is he just not absorbing it?   Will it continue?   

Our goal of getting his hemoglobin restored has been accomplished.  Now we move on to GI.  We now have a new GI.  We are hopeful she will be the key to unlocking this little puzzle.....

I am off to bed now as Little man has a big day tomorrow with some tests and further consultation's with GI....so, to be continued.....

Navigating through the subspecialty labyrinth....

"...At the same time, it is not surprising that these families fail to successfully navigate the subspecialty labyrinth. The gastroenterologist did the endoscopy and didn’t see much, the biopsy results were underwhelming to the pathologist, and the allergist said the child wasn’t allergic because the skin tests were negative. Random elimination of foods didn’t help. The child is still sick. Now what? Of course, there is no simple solution" from: The Mother of All Food Allergies.

We began the subspecialist labyrinth in Feb. with our referral to GI here, the above passage from this great artcle written about FPIES from a gastroenterologist says exactly our course.  Shuffled through GI, an endoscopy with biopsy's, to the allergist and elemental diet with elimination of foods, reintroductions and little man stayed sick.... "no simple solution" doesn't begin to describe the path we've been on for the past 8mo. through the subspeciality labyrinth looking for support for management of this chronic illness.  

Today, we hopefully took another turn closer to getting us out of this labyrinth, or at least show us there IS hope and choices and options for treatment, and support to navigate through it...

This gastroenterologist is associated with another (larger) Children's hosptial....so here is one option- we have another option for where little man would be hospitalized should he ever need this again, or for a food challenge (not trial, a challenge of an already known trigger food).   This hospital is not in our home, but an hour and half away- which is not ideal but more realistic than half way across the country that it would take for us to return to CHOP (no matter how much we would rather just go there). 

The GI started the appointment by explaining how he had read through little man's chart, which is always good.   He asked how he could be of help -- being that we've already consulted with allergists and another GI.  Management of his FPIES....specifically support is where we need help.   He wanted to know his story- when we first started noticing symptoms, when we got help, when we went to Philadelphia....wait, you physically went all the way out to PA? We explained how he seemed familiar but then not-so-familiar milk protein intolerance, but was he reacting to more in my diet? from almost birth and how his reactions to Good Start formula seemed to wake up a colic, then we moved to rice and other solids to try and get a better handle on what we thought was reflux or hunger, or what?  Soy formula last fall exacerbated a reflux, and colic.    He wanted to know when he had his scope and when we started the elemental formula's.   And what the first scope showed and the second, and how long on the elemental at the time of the 2nd scope?  And what is he like now?  What diet is he on, what does he tolerate.  What about this tapioca reaction, that seems out of the typical response?  Lots of good questions to get a good understanding of where we have come,what we have tried and where we are going.   He was thorough and listening.   He said key things like "I certainly don't argue with the parents"....."if they see something, then that is what it is- I don't live in your home so if you tell me something is wrong, I'm not going to deny it". 

What did he think of him reacting to the elemental formula?  He has never heard of it either....but he listened while we explained how we came to that conclusion and how we didnt' find a baseline until we finally moved away from any and all sources of corn.  He didn't dwell on this, instead saying if our Dietitian is following closely and our Pediatrician- than he sees no reason why Little Man can't be on a homemade formula....if we've worked it out for adequate calories, protein, fats and carbohydrates...

We moved on to discuss his anemia.  At this point, his concerns would be his protein intakes (getting better iron-rich sources of protein in his diet or formula) and treating his anemia.   He wanted to know why we had not done an IV iron transfusion since he does this all the time for his Crohn's patients- and they feel so much better after having it done.  He would be in the hospital and the iron would be transfused in him via IV.  He fully agreed that he has a risk of reacting to a blood transfusion and agreed it wouldn't be his first choice for little man.  

Pause for a moment with me....can you just imagine what it feels like to be in a room of a subspecialist who is acknowledging your son's illness, listening to your concerns and giving you real options for treatments of the complexity of it?   And giving you the support that he would oversee this at the Children's hosptial he works with if this needs to be done. 

This GI goes on to explain GI's are not typically the main doctors on an FPIES team, that you don't necessarily need the GI outside of needs for scopes.  There is little to test for and this can further frustrate a GI doctor who typically operate on diagnostic tests and criteria they can measure.  Remember, he is one- so he knows.   The good part about this GI, his good friend is the very Allergist we saw last month (Allergist #3 who confirms Allergist #2 diagnosis of FPIES).  He even went on to explain how he learned about FPIES.....everyone has to start somewhere....

A mom whose child did not tolerate soy and it was severe reactions to soy, was looking for help- looking to be heard. This doctor thought he had her simple solution- avoid soy.    But the mom was noticing pain and other symptoms with introductions of some other foods and did not know how to proceed, for fear of the soy reaction returning.  So she visited his waiting room everytime she introduced a new food.  Finally, he said they could challenge soy- since she was passing so many other foods.  He admitted her to the ER for monitoring, and fed the child soy.   A few hours go by and nothing happens.  So, he dismisses her- she goes to the parking lot and waits (she knows her child will be having this reaction soon).   Sure enough, the "vomiting her brains out" begins and mom brings her back into the ER.   The GI doctor was perplexed, called his allergist buddy and asked him if he knew what was going on, he replied...she has FPIES, haven't you heard of this?  He hadn't before, now he did.....

This mom's actions and persistance and advocacy for her daughter has made an excellent and helpful, FPIES friendly GI for so many other moms to follow her....I am grateful to her.   And I hope her daughter is now outgrown her FPIES and doing well.   Maybe someday I can connect with her (goodness knows, I sure have "met" a good share of FPIES mommy's already!). 

He continued to take his time with us, discussing our concerns and how he could be of help...I wonder if he realizes how much he already has?

more Elemental Formula?

Little man had Neocate Advance (300ml) added to his Hemp milk formula. I was so hopeful that the dried glucose syrup in Neocate Advance would be better tolerated than the corn syrup solids in Neocate Infant/Jr/One+.

He was clearly a happier boy most of the day yesterday, his blood sugar was more stable and he was able to play without hunger feelings. He had some small initial signs that I was hoping would not connect/add up.

The hemp formula I am building him is low in carbohydrates, only supplying half his daily needs, as I am nervous about putting too much in (because of his carbohydrate intolerance) for a few reasons:

1. it makes it thick and then will he refuse to drink it? and

2. will he get diarrhea like he did from tapioca starch and make him sick landing in the hospital again; and then

3. I'm doing this on my own. The doctors here have not recommended it and they can't recommend moving away from an elemental formula. So, I have been 'testing' it to see if it will work for him- I calculate out every recipe, every ounce, to be sure he is getting adequate nutrition.

I am not taking chances with his health, I am looking for ways to improve it. Our Allergist knows we need to move away from the Neocate and has advised such. We have struggled with this because of Little Man's compounind carbohydrate intolerance. And, if something were to happen that he could not tolerate his hemp milk formula -- should he lose weight or get so sick again like he did on first attempts to build it (with tapioca starch that caused osmotic diarrhea and a hospital admission), the doctors surely will not help us move further on with next steps but will only want us to keep going backwards with the Neocate that we are so trying to move away from.



Why move away from an elemental formula that we know helps children thrive?

Here is one reason:




And an hour later....



Pick up your crying child you say?....



This went on for 3hrs this morning until I finally gave him some of his compounded ibuprofen (which we are to try and stay away from because of his "ulcer" in his stomach) but it is the only thing that helps with this kind of pain -- to at least give him a small break from the pain. Another sign of his agitation (besides that it does little comfort for him for me to pick him up except have a screaming child closer to my ear) is that he clings to things- he has to have things in both hands and will NOT let go...something to try and give himself comfort. This morning it was this piece of paper, and the cup...



If we ignore this, it gets worse- it moves to around the clock pain, difficult stools, mucous and blood in stools, screaming and sleepless nights, until he begins to refuse to eat (connects that this is what is causing the pain), and then if he starts throwing up or diarrhea on top of all of this....he gets so sick. This is the cycle we keep having with him and have been trying to move away from. We have been able to move away from it, with the hemp milk formula. When we see this agitation become a mere memory, we know we are moving in the right direction. When we see this agitation come back in full force with reintroduction of just 300ml of Neocate, we know taking it out altogether is the ONLY direction.

Each step I learn more....

I learned that he clearly needs more carbohydrate in his formula, and I learned that he clearly can not tolerate even trace amounts of the corn (glucose syrup or corn syrup solids).

The Hemp milk formula needs to be tweaked, with better carbohydrate ratio in his current formula, more vitamins to make it optimal and moving towards a tiny menu. This is the direction we are hoping the Peds GI doctor here can help us with tomorrow.

"Hi!"

Little man can't stop saying it! To us, to his brothers, to friends, to strangers, to doctors, to nurses. The mask has been lifted, even if just briefly, again. Little man has lived so many of his days in pain, that he doesn't waste any time getting down to playing and learning new milestones, and words when he is pain free. He can say "hi","hi-5", "daddy", "momma", "woof", "quack", "neigh", "off", "on", "all done". He can give hi-5, wave bye-bye, clap, ask for his bottle, and he's learning puzzles. He also can walk and run of course! :) It is simply amazing to us that he catches up so fast to these milestones when he has less time to practice (because he has spent so much time in our arms, in pain).

We are very grateful we have pulled him out of his failure to thrive state he was heading down. Many FPIES kiddo's have this somewhere in their days, sometimes before diagnosis when little is understood about what is going on, and sometimes after when the right diet is being identified with food trials and eliminations. We have been running close to the wire for so many months, and we do our best to stay on top of his illness so we can learn more about how it is affecting him.

Little man had a follow up with his pediatrician yesterday (he now weighs in at 20#12oz!!!). The major Children's Hospitals (Mt.Sinai, CHOP, Jewish National) utilize a team approach for following these kiddo's and I am trying to duplicate that here- it makes perfect sense. Pediatrician's are at the center of their care, as they help manage the care of the "team" when so many things come into play- Allergist recommendations, GI work ups, Dietitian follow-ups. It all has to be monitored closely to be sure he stays thriving. I know this is where it would help to be at a place like CHOP (where our Allergist is) but we don't live in or near PA, so we are trying to make the best of what we have here. And what we have here, practically in our backyard, is one of the top leading medical facilities in the country- in the world! The doctors that want to learn about FPIES have been great, and they are really trying to help. Our pediatrician is great, and has been through all of this....but I still feel a disconnect between understanding FPIES and helping Little Man. I wish I could figure out how to get this better connected. The many days, months, and now going on a year of Little man being ill and monitoring and connecting his symptoms, and finding a diagnosis to explain it all, and managing his care, on top of him continuing to be sick, and on top of the other everyday things in life- our other children and their needs, our jobs, our home, etc....is all starting to get overwhelming when I also still feel I need to teach everyone about FPIES while trying to connect how it affects Little Man...most especially when he is as ill as he was before being hospitalized. We are trying so hard to find his baseline so we can build his tiny menu. It will be more difficult to do food trials when he is still having blood in stools and waking up screaming at night.

Our "Sam Syndrome": from birth to diagnosis

Our "Sam Syndrome": from birth to diagnosis

I am a mom of 4 boys. I’m not new to this mommy gig.
Maybe the early signs should’ve been red flags: bringing him home from the hospital and having blistering diaper rash, eczema that started in the first week of life, gassiness, and explosive diapers. But I’d been through all of that before, our first born had milk protein intolerance with allergic colitis at 8weeks old, colic from 3-16weeks old and reflux with throwing up until he was 19 monthes. We had had our share of crying, gassy days filled with projectile vomiting. So I wasn’t alarmed when I began to see all this again. I did see all of this in our 3rd son, but he was only milk protein sensitive. So, I thought I was going down sensitivity road again.

I was exclusively nursing, as I had with all my other boys. I knew what I had to do so I started changing my diet to find the right amount of dairy my little guy could tolerate, this seemed to help some.

He was only a few weeks old and the middle of the night wide awake times began…this one was new but again I wasn’t too alarmed- just considered myself lucky that I had had 3 good sleepers before him. Also started to notice, although we enjoyed the cuddle time, that the little guy liked to be held upright for naps- he would wake up out of a seemingly deep sleep if we laid him flat. So, we created a “nest” for him in his bassinet and crib – with a wedge and a broken down bouncy seat for soothing vibrations (that he seemed to respond well to) and this helped us get some sleep…some nights.

It was approaching time for me to return to work and so trialed him on some formula, for supplements as needed (unsure how my production would hold up). This brought on projectile vomiting from the first ounce. We chalked it up to weird coincidence and tried another ounce in a week or so, only to have more vomiting. Based on our past experiences, we recognized that he wasn’t going to do well with regular cow’s milk formula at this young age. My supply was holding up so we decided to just hold off on supplementing with formula at this time.

But now, at 3mo. old we started to see a colic behavior creeping in- each evening seemed to get worse. We were very busy so we thought he was just picking up on the stress in the house of me returning to work, school starting, etc. My husband works 24hr. shifts, so our 9yr.old steps up to be the "man" of the house and help mommy out when he is on shift. He would tried so hard to help out, it broke my heart and made me so proud all in one breath. It took his words a month or two later, saying “Mommy, what happened to him?” for me to start to really realize I wasn’t the only one noticing that his fussiness was getting worse.

I had started to change my diet around more and noticed immediately if I had more than ½ cup of dairy in a day, I would have a wide-awake, gas filled little baby at 2am. So, I limited my dairy- not having any straight dairy but reluctant to pull all sources out at this point- still not knowing if it was sensitivity or full intolerance and since we hadn't seen any bloody stools, I was convinced he had a sensitivity like son #3. I did notice keeping control of the dairy was helping some but some days it was back to the same, wondered if he was affected by other things (?wheat) in my diet- speculating that with my IBS, he was getting incompletely digested proteins through my breast milk.

We were approaching 4mo,so we decided to trial some rice cereal to see if the thickener of it would help with what we speculated may be some refluxing issues. This seemed to work for awhile, but that would be the course of things to come for the next few months...we were slowly losing the grasp on what was really affecting him and what was really working. We turned back to the suspicion that my production was low, so we decided to trial another formula- this time trying soy. Soy brought on gassiness, stomach cramps, reflux, burping, and a chest congestion that sounded so badly after 5weeks, I feared he had croup or pneumonia. After almost 2mo of sporadic 2oz.supplemental soy bottles, we decided he must be building up sensitivity to soy. We stopped soy. He also was not accepting new foods well, and beginning to refuse many meals.

Our little guy was going downhill fast, we needed to find something that would help take away all his pain as well as nourish his body. We moved on to trial Nutramagin, followed a 100% no soy/no dairy diet (for me and him) while I continued to nurse him, then Nutramagin AA, then a reflux medication. A week on the new medication and his stomach aches doubled and his appetite decreased. His body was not responding to any of our many efforts and he was getting so sick and his pain cries were so intense.

That instinct? Now burning flame in the pit of my stomach. Our little guy was experiencing pain day and night. It was getting more heart wrenching to see....stand by and not be able to do anything, or enough of anything to help him escape this now growing constant pain.

We received a GI consult with recommendations for a new reflux medication and an elemental formula (and to stop nursing). We tried the reflux medication right away but it made him so sick within the first doses and he started to refuse to eat, and we then ended up in the hospital where we got him eating the new elemental formula- Elecare, but this only brought on daily throwing up. We waited for his stomach to adjust to the new formula. We proceeded to an upper GI and then to a Endoscopy and sigmoidoscopy work up hoping to find out what was going on inside our little guy that was keeping him from tolerating the foods designed to nourish his body. The tests confirmed that he did not have Celiac Disease or Eosinophilic Esophagitis but something was still not right with our little boy. We switched formula’s from Elecare to Neocate (another elemental formula) and the daily throwing up slowed down. We tried Neocate Nutra and the violent vomiting began. We would watch as he emptied the contents of his stomach, he was so sick. Then we connected it to the Nutra, we stopped this and the violent vomiting stopped…unless he got a crumb from the floor dropped by his brothers having a snack. He remains so super sensitive to any ingestions of foods.

We knew something was still not right…months on an elemental diet we thought he was ready for re-introduction of foods. And where do you start reintroduction of food? Rice? This brought on days of vomiting and agitation. With this, we begin to make some connections in the literature: could it be FPIES? We went to the next food, something he enjoyed before we stopped food- sweet potatoes. This brought on many days of colic and runny stools and everything the same as rice, except the vomiting- all from just a few teaspoons of pureed sweet potatoes on one day. This was getting to be too much again. We had consulted with a RD (Registered Dietitian) and she brings up a possible connection with FPIES. Here I am coming across this FPIES again. We continued reading the literature and connecting the commonalities. Have we finally found something that could finally explain what has been ravaging our son's digestive tract?

Where would we get an expert opinion? I dove into the world of online support groups and found and connected with other mom’s who echo my son’s experiences, echo the food sensitivities and reactions to foods, echo the anxiety of having an ill child with a syndrome of unknowns….many have gone to this place called CHOP- what is CHOP? I soon find out….Children’s Hospital of Philadelphia, and they have a program for Eosinophilic Esophagitis and in this program they have become one of the leading experts on FPIES. FPIES is essentially Eosinophilic Esophagitis ruled out. And that is what Samuel had- something that, to his doctors here, looked and acted like Eosinophilic Esophagitis but scope had ruled this out.

We call and get their earliest appointment, and go to PA with much hope and anticipation for some direction on how to proceed. The experts at CHOP recognize the signs and symptoms almost immediately. And our son is diagnosed with FPIES, a mere 4days before his 1st birthday. Happy Birthday Little Man!! Now, we have an action plan, we have an Allergist, and we are pulling together our resources to help us care for our son as we journey down this new path.