Eosinophilic Esophagitis: A Dual Perspective–Mother and Nurse

It has been four years since we wrote about eosinophilic esophagitis (EoE),which we characterized as a “new disease.” As we wrote then, “With eosinophilic esophagitis, the cells ‘infiltrate’ the tissue of the esophagus where they don’t belong. They sit there in their granule casings like landmines leftover after a battle, reacting mostly to food, inflaming the surrounding tissue. This eventually causes a form of remodeling called fibrostenosis, which hardens and narrows the esophagus.” Since then
research into this disease has burgeoned to the point where it is now considered a fourth–and late-developing–step on the atopic march behind eczema, food allergies, and asthma.

The ideal person to reintroduce this subject to our readers is Christina Ilardi, whom I met at a fundraiser for End Allergies Together (EAT) after correspondence through various Facebook groups. Christina is a registered nurse and the mother of two EoE patients. She now hosts her own FB group, Research in Eosinophil Associated Diseases (READ). Thus, she is an authority on the human implications and a discerning reader of the science. Henry Ehrlich

AAC: Christina, thanks for joining us, finally. Let’s jump right in. EoE used to be an elusive diagnosis. Doctors didn’t recognize the symptoms and an important diagnostic tool, esophageal scoping, was a big pain, particularly for kids. Biopsies are another. Two questions—one for the mom and the other for the expert: How were your kids diagnosed, starting with the first symptoms? Do you get the impression that with accumulating knowledge, your medical colleagues are getting any better at diagnosis? And are they putting the pieces together sooner?

Christina: Hi Henry. Thanks for having me. My EoE children are my oldest and youngest, a girl and boy, respectively, and they presented very, very differently, but were diagnosed only a few months apart. The first diagnosis certainly gave us clues for the other. My son was symptomatic at birth with formula intolerance, excessive vomiting,
fussiness, and signs of lower GI distress and pathology. I switched him fairly quickly to a hydrolyzed formula. These symptoms improved significantly, but his “reflux” persisted. He vomited frequently, but was happy and was gaining weight….so the referral to GI was not considered necessary. I was continually told that these symptoms should improve as his digestive system matured, and that statistically this all fell well within the realm of infant reflux. My mother and medical instinct was otherwise – but because he was happy and gaining weight, and because I try not to doctor my own
children, I deferred to his physicians. Then, came the inevitable cow’s milk introduction,
which I delayed until 15 months, when he had such a violent GI reaction to that it put him
into near shock. This began the GI journey but we were still a long way away from EoE
diagnosis. It was suspected he may have FPIES (Food Protein Induced Enterocolitis
Syndrome), a severe non-IgE mediated allergy, and we were instructed to avoid all
traces of milk protein. The vomiting remained a concern of mine, but the GI wasn’t very
concerned and felt it was likely simple reflux – and put him on a proton pump inhibitor.

This gets complicated now! The PPI did reduce his vomiting, drastically. It didn’t
completely stop it. He still vomited at least once or twice a day. It was a way of life for us
– buckets everywhere – lots of new car seats – changes of clothes everywhere, etc.
Fast forward a year or so – we managed with PPI for a while and just kept hoping he’d
outgrow the “reflux.” My daughter, then 7, otherwise healthy but atopic history,
developed sudden-onset abdominal pain. Abdominal pain with no real explanation. We
went through the normal diagnostic workup. Nothing. Pain didn’t remit. Several weeks
and a battery of tests in – we took her to the same GI – who put her on a proton pump
inhibitor as well – with no change. 6 weeks later, she had an upper endoscopy (at my
insistence) which visually was “clean.” The pathology report a week later revealed high
numbers of eosinophils. This began our journey. Our son was then scoped several
months later, again at my insistence – several months ahead of the time they had
planned on doing any scopes – because of the heritability in EoE and now high
probability of his having the same disease. He did, and at only 2.5, his esophagus was
already very visually damaged.

Do I think clinicians are diagnosing Eoe sooner than they did 7 years ago? Maybe.
It’s still an elusive diagnosis because it can mimic others and overlap with others.
Additionally, as children grow they learn behavioral adaptations to conceal or avoid pain
in the form of disordered eating habits. Slowly, EGID knowledge is trickling down to
primary care as the number of cases increases. Until then many will continue to learn from
and alongside their patients. Validated screening tools/algorithms are being developed to at
least facilitate the primary care clinician’s referral process.

AAC: Do your children have any IgE-mediated food allergies, and if so how does EoE
complicate their management? Also. the “classic” treatment for EoE involves two
choices, swallowing steroids or avoiding the offending food. Does that describe your
situation? Do the kids slip and how do you cope with an episode? How much time does
it take to rebound from an episode?

Christina: One child has igE specific allergies and one does not. The only complicating
factor there I’d say is the additional food exclusion that cross contamination presents.
They are already on fairly restrictive elimination diets for their EoE; additionally
eliminating food products that may be cross contaminated with their IgE allergen just
restricts more foods. As time has passed we just do less and less processed food. I
cook – a lot.

Although classic treatment for EoE was previously limited to two choices of steroids and
diet (and often dilation in adults), more recently it has become clear that proton pump
inhibitors also treat EoE. There is an anti-inflammatory mechanism in addition to the anti
secretory mechanism that in some way down-regulates cytokines associated with EoE.
My son, the child who has always vomited, cannot function off of a PPI. He is also on a
Top-8 allergen-free diet, with a few additional exclusions. This manages his
EoE–mostly. He is not fully clear. Unfortunately, topical steroid treatment did not help in our
case. My daughter is managed through dietary elimination alone: no drugs. As to
“slipping,” – no, we are very careful and although in the beginning we probably had
a few mishaps with our own learning curve, we don’t slip. We’ve done a few food trials
with my daughter, but we’ve never gotten to the point of scoping with them because unfortunately
she has become symptomatic with each. EoE is a painful disease with a myriad of
often-systemic symptoms – my children are acutely aware of the specific relation foods
have to their painful symptoms, and that seems to be enough for them to understand the
food elimination rationale. It’s not easy, socially or emotionally, but they get it. It can
take anywhere from a few days to a few weeks for them to rebound from an exposure.

AAC: How does your nurse’s training help you come to grips with EoE as a mother, as
an advocate, and as a student of the subject.

Christina: Surely my medical training and scientific understanding have helped me navigate
a very new and complex disease over the last 6 years as a mother of two sick children that
needed care. The disease is also new enough, rare enough, and research dynamic and detailed
enough that having basic understanding of anatomy, physiology, pathology, and human biology
and chemistry has unequivocally been useful in guiding my research efforts – I have had to
research quite a bit myself. In the less-than-7 years since they’ve been diagnosed, I’ve seen
enormous changes in disease understanding and protocols – some of which were precipitated
by patient questions. My medical knowledge has equally helped me as an advocate for my
children, as this disease can be painfully ambiguous at times, and I’ve been left to
interpret and validate my children’s pain on many occasions. Though many in the
medical field see EoE as straightforward based on cell counts in the esophagus – it’s
very often much more for patients. The medical community is starting to recognize
that, particularly the EoE-expert community. These clinicians see enough EoE patients
regularly (and often do research as well in the field) to recognize the frequent
systemic nature of the disease. But on a local level with local clinicians, I’ve had to
educate and advocate extensively. Today, our pediatrician often calls me with questions
on the subject when evaluating or treating other patients. I frequently send current
literature/new publications! As a student of the subject, of the disease and the ongoing
research – again, having the base of knowledge I did has been enormously helpful. It has
enabled me to delve into the intricate complexities of the immunobiology and the
genetics, epigenetics, and more – and to be able to ask the right questions of the right
people to better understand each aspect of the targeted research.

On a nursing level, I’m just prepared as a caregiver, advocate, researcher, learner,
teacher, helper. Those aspects of nursing have been useful to me in this journey. The
aspect I have found to be the most challenging is my instinct, and within that
training too, to fix/heal. With EoE, that’s an elusive goal. From any medical
professional’s perspective that is enormously frustrating; from a parent’s perspective –
it’s heartbreaking.

AAC: There’s a strong association between seasonal allergens and EoE, although
obviously allergens like milk aren’t floating in the air. Some scientists feel that there’s a
synergistic effect of IgE-mediated atopy and EoE-specific mechanisms. Can you talk
about that a bit? Also do your kids have seasonal EoE? Are their symptoms as potent
as with exposure to the food?

Christina: My children do not seem to have seasonal flares, but yes, it is a phenomenon
seen in some EoE patients. Atopy in general is strongly associated with EoE, though the
numbers on this are all over the place. A significant percentage of patients are also non-atopic,
so there’s a lot we just don’t know, and most importantly a likelihood that there’s
variable endotypes in EoE, as in diseases like asthma. These endotypes may have
completely differing etiologies, or underlying causes/immunological pathways.

AAC: A significant percentage of patients who undergo oral immunotherapy (OIT) for food
allergies show symptoms of EoE during therapy. There’s even a name for it: Eosinophilic
Esophagitis Like Oral Immunotherapy Related Syndrome (ELORS). The jury is still out as far
as I know about whether OIT causes EoE or whether it uncovers it. However, some patients
develop it anyway even after their food allergy resolves. Have you seen any persuasive
literature covering this quandary? Have you faced it yourself or encountered others who
have, and do you have any specific wisdom about it?

Christina: I have not faced it myself, as OIT has not been an option (or a concern) due
to my children’s already-existing EoE. I am however very familiar with the phenomenon.
I’m actually not a fan of the ELORS acronym, as I don’t think one can say EoE “like”
without effectively ruling EoE out. That said, it’s certainly a challenging and controversial
subject, fraught with data disputes. Unfortunately, there is no way to know how a
patient’s esophagus has been affected without an upper endoscopy. The literature
describing EoE that develops during OIT is clear about only the ambiguity! We don’t
know whether these patients had pre-existing EoE, tendency toward EoE, epithelial
barrier dysfunction, asymptomatic esophageal eosinophilia ….or nothing at all. I happen
to know several of the preeminent EoE researchers tend toward the theory that EoE is
likely uncovered in susceptible hosts or was actually pre-existing vs caused; but again –
no one knows for sure. It’s quite possible it’s a mix of all of these things, variable per
patient. Without baseline scopes we don’t know. It is a quandary, surely
.
AAC: You’re a professional. Do you have any advice for allergists and other medical
practitioners regarding EoE? Are there half a dozen things they should know and could
implement now?

Christina: General advice for medical professionals/clinicians who see EoE patients:
1) Listen to your patients and their families. EoE is not a disease of esophagi, it’s a
disease of families. Many times the treatment involves the whole family; even when it
doesn’t the disease dynamics do.
2) Temper the instinct to only “think horses not zebras when you hear hoofbeats,” as the
medical adage goes. Though often a tenet of logic in medical diagnostics, it excludes
individual risk factors and somewhat invalidates patient experience/complaints. EoE is
still categorized as rare, and often coincides with a slew of various rare comorbidities,
sometimes related to EoE and sometimes, not. Many EoE patients just persist with
unexplained GI (and other – often muskoloskeletal and rheumatologic) symptomatology.
Validate symptoms. Don’t automatically categorize unexplained abdominal pain as
psychological or behavioral. Please.
3) Keep as up to date in your specialty as possible. EAD research is rapidly evolving.
4) Coordinate care to the best of your ability with other specialists for your EoE patients.
Multidisciplinary care is essential in EoE. Optimized care includes not only allergy,
immunology and gastroenterology, but the pediatrician and a registered dietician as
well. If possible financially/insurance wise, psychotherapy can be very helpful for Eoe
patients and their families.
5) Check patients’ nutrient statuses as per guidelines or more, as guidelines vary and
are frequently changed. EoE patients are unique in that many are on unusually limited
diets with major food groups often absent for years; combined with GI inflammation and
poor absorption as well as the frequent use of certain medications that are known to
deplete nutrients….it seems prudent that the medical community would err on the side
of caution and get baseline levels of the major nutrients when drawing other labs on
their EoE patients. The discord between medicine and nutrition is one I will never
understand. I think some EoE patients have negative sequelae from therapy rather than
the disease itself.
6) Per my 13-year old: a) “Talk to the child (patient) at least as much as the parent”
b) “BELIEVE the child and their report of their symptoms. Though sometimes pain is difficult
to describe when its chronic. Pain scales and pain charts suck.”
c) “Don’t dismiss a patient’s pain. Just because you can’t see it or don’t know what is causing
it doesn’t mean it’s not there. It also doesn’t mean it’s in my head. I’m not anxious, I’m in pain.”

AAC: You’re a mom. Do you have any advice for other moms regarding EoE? Are there
half a dozen things they should know and could implement now?

Christina: Advice for moms/parents on EoE – This I’ve been doing for a while. Every
situation is very different, EoE runs a huge spectrum of severity and heterogeneity. Very
likely has different endotypes and etiologies as I alluded to before. With that said, the
commonalities are there and often the challenges are similar. The need to advocate and
get to proper specialists and sometimes sub-specialists is shared.
Advice for Parents on EoE:
1) Your journey is your own. Your medical situation is unique. Though you may find help
from online support, friends, groups, etc – remember that ultimately you will need to find
help from clinicians/practitioners who examine your child and his/her case. Find the best
ones as quickly as you can. Better to travel to the best ones earlier on than to suffer
through the anguish of non- or misdiagnosis for years. Sometimes online support
resources offer a great forum for connecting patients in geographical areas and this can
be helpful for patients for clinician recommendations.
2) There are bad clinicians out there, like there are bad professionals in every arena.
Move on from them. Find the ones that are kind and willing to learn, and respect them.
One physician can never know everything in any area; the ones who tell you when they
don’t know are the smartest ones!
3) Ignore the judgement and the ignorant advice from friends/family/other parents who
don’t understand EoE or confuse it with a “regular” food allergy. Eventually this
becomes easier and you are able to laugh at the absurd suggestions, but in the
beginning particularly, it can be overwhelming and even upsetting. I recommend coming
up with standard one-line answers about either what EoE is (or isn’t) and/or what “our
MD advises.”
4) Along similar lines, advocate fiercely at school for your EoE child, and, dependent of
course on their case and limitations, become familiar with 504 law and their rights for
equal educational access under it. Contrary to what many people think, EoE is very very
different than a “food allergy.” Nor is it just “a different type of food allergy.” It is a distinct
disease defined both by the white blood cell that is its effector, as well as by
its symptomatology–what’s called a clinicopathologic diagnosis. As such it is,
unfortunately, a disease process that commonly includes pain, vomiting, fatigue, nausea,
even low grade fever and general malaise. Additionally, the disease management
includes medications that can have side effects, various severe dietary restrictions, and
multiple in-hospital procedures under anesthesia. All of this affects quality of life, time off
school, anxiety, friendships, etc. The school must be part of a management plan for an
EoE child and parents need to learn the best way to advocate and support. There is a
learning curve but online resources are plentiful.
5) DO connect with other parents online for support, tips, access to research, recipes,
clinical trials, patient and professional conference information, and more. The online
community is invaluable for special needs and rare disease parents, particularly. There
is no one better to ask what to do when a feeding pump has an electronic malfunction at
midnight than a community of parents who’ve dealt with the same pump and had the
same thing happen 20 times.
6) Expect that EoE will have a profound emotional, psychosocial, and financial
impact on entire family.
AAC: Finally, how about a bit of homework. Are there a few articles you have come
across that are must-reads?
Christina: Sure.
https://www.jacionline.org/article/S0091-6749(17)32331-X/fulltext
https://www.jacionline.org/article/S0091-6749(17)32176-0/abstract
https://www.jacionline.org/article/S0091-6749(14)00198-5/abstract

AAC: Thank you.

Christina Ilardi has been in the nursing field for 15 years and has worked in pediatrics, obstetrics, and research nursing. She is mother to three children who all live with allergic disease including eosinophilic esophagitis, asthma, mast cell activation, and Ehlers Danlos Syndrome. She currently works as an advocate in the rare disease community, and founded a group dedicated to sharing and “breaking down” peer-reviewed medical research in eosinophil associated diseases, in 2015. Called READ, the group helps bridge the gaps in understanding that often occur between clinicians, researchers, and patients, and strives to help patients both obtain relevant scientific research and understand its applicability in various clinical contexts.

Slides from NEJM