A Long Possible Diagnosis Story- Cora and FPIES

We've got a new diagnosis in our lives. Or, at least, a possible diagnosis.  We finally to visit the GI doctor last week to try and get another opinion on Cora's bouts of crazy vomiting.

Strangely, another mother mentioned this possibility to me over a year ago, when Cora had only had one episode and at the time I read about it and then promptly forgot about it.  After the peas episode we just stopped giving her peas.  And we avoided other legumes for awhile.  But gradually we started introducing other foods.  At about 11 months old she had another episode after pinto beans.  Then a couple months later, and every couple months or so until July when it happened 3 times in less than 4 weeks.

Her amazing pediatrician didn't think it was a recurring bug, since usually the next day she'd seem fine.  And it wasn't accompanied by loose stool.  So we ran a blood allergy panel and celiac panel, which came back negative across the board.  I've been told a number of times that allergy and intolerance testing for young children is notoriously unreliable, but we wanted to at least see if there was something obvious going on.  But nope.  Nothing.  Zip.

And it was tricky.  My gut told me that it was food related.  But sometimes I wouldn't know what food could have caused it.  It didn't seem to me that she had anything new.  In hindsight, though, I think that she probably had something "bad" mixed in with other things.

Advice from another mother of a child with Ds weighed in, urging us to get a full GI scope to rule out a possible duodenal web that may not have been detected in infancy.  But that seemed unlikely, since the symptoms have intermittent, she doesn't show evidence of reflux generally speaking, and she did have an upper GI and swallow study done at 2 months old.  Plus the idea of sedating her and doing something like that isn't my idea of the first thing to do. It just didn't feel like that was the answer.

After a discussion with the gastroenterologist, she listed FPIES, or Food Protein Intolerance Enterocolitis Syndrome as her most likely suspicion.  It is like a food allergy that causes an immune reaction in the gut, which is triggered by certain foods, which can vary from person to person.  It causes profuse vomiting and often diarrhea.  And it is not detectable by allergy tests or other objective testing.  Basically it's diagnosed on clinical observation.

After reading about it, I just had the feeling that this is what's been going on all this time.  I just felt it in my gut.  Acute episodes manifest with profuse vomiting 2-3 hours after exposure to the trigger food, and often accompany extreme lethargy, paleness, low blood pressure and extreme dehydration.  In fact, it can be very dangerous since sometimes dehydration is so rapid that it can cause shock and sepsis.  Often patients who wind up in the ER will show signs of inflammation and infection, so it can be tricky to discover.

Browsing online, it seems that many families get a diagnosis early on, after a baby reacts to formula or rice cereal.

But for us, with Cora being breastfed all this time, and me endeavoring to avoid foods that she seemed to be sensitive to, we were able to keep her from having super frequent reactions.  And the slow pace along with the hope that it wouldn't happen again kept us from aggressively exploring what was happening.

Then last week, a couple days after talking to the GI doc, I inadvertently gave her soy flour in the form of Veggie Booty.  After I had given her several, I re-read the ingredients and discovered my mistake.  I figured that we'd know in a couple of hours whether she actually had this type of reaction to soy.  Lo and behold, she started up again.

Bingo.  Pretty cut and dry to me.  The doctor wants us to gradually try reintroducing suspect foods.  But after the soy reaction, there is no way I will give her beans or peas.  I'm on the fence about eggs, since that one hasn't been clear, but she has eaten it on days she's had episodes.  And the moms I've talked to online recommended not introducing these foods at all right now.  So I will stick with that.  I do plan to reintroduce wheat shortly since I think it was causing a rash, but not an FPIES reaction.  We'll go back to the GI doc in November to share our findings and thoughts and maybe see about an official diagnosis.

And then last night, just in time to keep my head spinning and keep me from sleeping, I had the thought that maybe she was having reactions early on.  Before Cora had open heart surgery she had horrible, awful, ridiculous reflux.  Reflux that didn't seem like reflux.  It was severe, violent and almost constant vomiting, retching, choking, heaving and gasping.  It was pure torture to watch.  In fact, I took a video of it and deleted it since it was so awful (although I wish I hadn't deleted it now.)  I don't think the doctors really understood how bad it was.  They probably just thought I was an overly dramatic parent freaking out about spit up.  But really, it was bad.  And it stopped right after surgery.  Coincidentally it was then that we stopped putting formula into her expressed breastmilk bottles to increase the calories.  We thought that it was all caused by her significant heart failure.

But now I am thinking that it could have been a chronic FPIES reaction.  Reading the Earth's Best formula label, soy oil is one of the top ingredients in the dairy formula.  Aha!

This is a sneaky and fairly rare diagnosis. It's not more common in kids with Down syndrome than in the typical population.  Thank goodness for all the advocate parents out there who are current blogging and sharing information and following their instincts to get their children diagnosed so they can heal.  From what I hear, most kids outgrow it by 3 or 4.  So we'll hope for that.  And in the meantime we'll keep her on a pretty restricted diet.

But it feels good to finally know what's been happening.  Watching your baby violently and profusely vomit every few minutes for hours while the doctor's office help line just tells to you to be on the lookout for dehydration makes you feel helpless pretty fast.  Watching your kid be sick makes anyone feel helpless.  And in the scheme of Cora's life so far, it's not even the worst of what she's been through by far.  But it's nice to know what we can do to keep our sensitive girlie healthy and allow her little system to recover.

Oh, the Signs!

Miss Cora has been on a signing mission these days.  She seems to be learning new signs every day and has been showing her stuff on a regular basis.  There are over 20 signs that she will sign on her own when she hears the word or sees the object.  There are at least another 20 or more that she does with a little encouragement.

A couple of days ago she was playing on the floor as I talked to my friend.  I looked down to find her signing "again."  I guess she had heard it in our conversation.  Pretty cool stuff.

The only tricky part is that her fine motor skills don't quite yet match her understanding and her desire to communicate.  So there are a number of signs that look pretty similar to me.  Without a context or a visual cue I can have a hard time telling what she's trying to say (Signs like "more", "swim", "walk", "wind", "cold" and "play" can look similar.)  But her fine motor skills are improving regularly, so I imagine that will start to improve.

Here's a sneak peak of our little signer.  Although Daddy is giving her a little coaching here, she doesn't need it for most of these signs... even though I was surprised that she knew "frog" and "mouse."



And like her little friend Ellie, Miss Cora has been all about the shoes lately.  She just got some new inserts for her new shoes, and should be fit for some Sure Steps braces in the next couple of weeks, as well.  

We are planning to spend the rest of the weekend dealing with a plumbing emergency, but hope to enjoy the rest of the surprisingly beautiful late September weather with a bike ride or two and some park time.



And if you haven't already done so, it's not too late to join Team Cora Bean for the Buddy Walk next weekend.  We'd love to see you in person, but you can support our team with a donation, as well.  Thank you so much for all your support!

Black and White

Yesterday I posted about my sad moments with Cora.  Right now I’m in a sad place for non-Cora-related reasons and that mindset seems to be spreading the melancholy around, tingeing everything a little bit blue.

I guess the reason I’m writing this is to acknowledge that I’m finding myself hovering somewhere between joy and sadness more often than not.

In all honesty, most of the time I tend to be on the sunny side.  I feel that overall I adjusted pretty well to the turns my life took when Cora was born, and I know that she has made me happy beyond belief.
But there are still moments when it’s harder to feel that way.  Moments when my worries, my concerns, and my own insecurities take over briefly.

And I think it’s important to express that.  There are people who feel that blogs about Down syndrome often focus on the good too much and fail to express the bad that simply must exist too.  There are probably a few reasons for that.  I think that it’s truly because most of the people that have been blessed with a person with Ds in their lives do find their lives enriched and improved by it.

And since a portion of our society seems to think that there is no way that could be true, we want to express it to the world.  We want the world to see what we see.  We want to be able to change a few minds and let them in on our little secrets.  I think that for many of us, the good so outweighs the bad that the goodness is what you see in our words and our photos.

But there is fear and sadness sometimes too, of course.  Some people are concerned about posting that side of things, for fear that an expectant parent looking to make a life or death decision could be swayed by our words.

I think it’s important that we express both sides.  I think it’s important so that the world sees our own humanity, and that of our children.  If we can express the sadness, then our joy seems more believable.

The concern for me is that I don’t want to be purely seen as black or white.  I know that our society tends to pit absolutes against one another to define our world, to describe it and label it and put it in a tidy little box.  Happy or sad.  It’s so much harder to define that space in between, where most of us really live.

And that’s where the beauty really lies for me.  In that space in between.  Hovering between joy and between sadness, in that space in between, where we live and breathe, play and learn, stress and worry, love and adore, and hopefully keep learning.

Just One of Those Days

I'm sure it's the melancholy mood I'm in, feeling waves of sadness from other parts of my life starting to superimpose onto everything else.

My emotions feel so tumultuous.  Just yesterday I was reviewing Cora's progress with her therapists, proud of what she's accomplishing and feeling patient about my expectation that she'll probably start to walk closer to her third birthday than her second.  And then I hear of some of her little chromosomally enhanced friends taking their first steps and my heart lurches for a second.  As proud of as I am of those little ones that are working so very hard, I feel that familiar pang nonetheless.

Today while out at a music show I watched the kids, the ones her age climbing and talking, looking grown up, while the littlest of babies were crawling circles around Cora.  Before I knew it, surprised and a little embarrassed, I was wiping away a tear.

Some of the other mothers smiled at my pretty girl, asking me her age and commenting on her eyes or her pigtails, while others looked at her and avoided meeting my eyes.  Are they just mommy cliques or is there something else there?  Pity?  Fear?

Or is it all me projecting my own insecurities and my own worries, amplified by my sadness, onto the people around me?

So much of the time I am so proud of her, so happy with her, wanting nothing to be different.  And at other times, the differences seem to isolate me.

But lucky for me, I have an excellent antidote to my sadness and my fears.  I just have to look into Cora's eyes and witness her glee, and she somehow washes it all away.  For a while, anyway.  It's those moments in between, when I look away and start to see her from the outside that the waves occasionally roll back in. 

A Glimpse of my Big Girl

"What are you looking at?  I'm just feeding myself some yogurt and hanging with Daddy."

"You're seriously still taking my picture?!"

"Aaaaah! Take that, Mama!"

"No, Daddy, I don't need your help with this!"

"OK, fine.  Here's a bite for you Daddy...."

"See!  I told you I can do it all by myself."

"B" is for Book

I had to share a few glimpses into one of the things I most love to see every day...

Because this girlie LOVES her books.

Pulling them down, flipping the pages, turning them right-side-up, peering up close, then holding them far away.  These pages contain some serious motivation for this little girl.

And of course, reading your favorite books is way better wearing the adorable outfit made by your very own Grammie. But don't bum ruffles make everything better?

Team Cora Bean is Buddy Walking Again

We are excited to be planning for our second Buddy Walk, which will take place on Saturday, September 29th.

Last year was amazing.  We had about a dozen walkers on our team and raised over $1200.00 for the Northwest Down Syndrome Association!

This year we're off to a little bit of a slow start, with all our vacationing this summer.  And sadly, it seems that many of our Team Cora Bean members can't make it in person this year, but will be joining us in spirit.

We're happy to be getting together with our local T21 families to celebrate our little wonders.  And I'm excited to be more involved with the local Ds group in the past few months.  I've started hosting the monthly playgroup for kids ages 0-5 and have participated in some other fund-raising activities and educational seminars that the NWDSA puts on.  It is a fabulous group, providing resources, informational support, seminars, and social and emotional support.  And it's been a great way to meet other families like ours.

If you're going to be in Portland on September 29th, we'd love it if you'd walk with us in support of our beautiful girl, and in support of the many individuals with Down syndrome that are such blessings in our lives.

To join or team or to make a donation to Team Cora Bean, click the photo above or the following link.

CLICK HERE TO DONATE

The Most Important Thing

Support.  Acceptance.  Love.  Education.

These are such important things in a life, any life.  It can be argued that they are even more important in the life of a person with an intellectual disability.  There are so many factors that will affect how Cora's life takes shape.  Her ability to live a happy and productive life and achieve personal success is dependent upon the opportunities she is given.  Opportunities for medical care, education and therapies are important.

But even more important is her opportunity for love and acceptance.  The potential of individuals with Down syndrome seems to be steadily increasing in the eyes of society.  Access to the services that are now available most certainly plays a role.  But the fact that people with Down syndrome are being raised in loving and supportive families and are out and about within their communities seems almost more significant to me.

When Cora was born I worried about what my family would think.  What my friends would think.  I was honestly afraid.  I worried that they may not love her like I immediately knew that she needed to be loved.  But thankfully this worry was very short-lived, as our friends and family rallied around her.  When Cora was medically fragile and waiting for open heart surgery the prayers of loved ones and strangers showered over us.  Our words of love for her drew people in, but it was truly her warm little soul that wrapped itself around their hearts.  Her little spirit, her joy, her enthusiasm, her wit and intelligence shines.  It's like you can't really look away.

It's no secret that I love her beyond belief, but the fact that so many others love her as well is so important: to me, to her, and to her life.

We recently had a visit with someone we love.  Although Cora has only spent a few short visits with her Aunt Dana, it doesn't take long to see that there is a special bond between the two of them.  It doesn't hurt that Dana is awfully good at participating in Cora's very favorite games.  The deal was sealed when Cora reached up for her auntie from her mama's arms.

So we spent a couple of days in the company of some of our favorite people, basking in the beauty of their outdoor life, walking among the trees and the hills, and loving our quiet time.

We said goodbye to summer with a big hooray.  Thank you to our lovely family for having us, and for loving our girl.

Oh how this girl will miss summer swimming!

Waving to her fans from her new favorite seat!