It’s Rare Disease Day

by Hope Sewell on February 28, 2011

in eos, family, kids

Today, February 28, is Rare Disease Day.  For those of you who don’t know (and I have a feeling that’s going to be the majority of you :), Rare Disease day is an advocacy day that is internationally set aside to bring mass recognition to rare diseases.  And in observance of this “rare” day 😉 I want to do my part in making you aware of the rare disease that we deal with here in the Sewell house.  Two of our children, Tobin (5) and Lilly (2) have an allergic inflammatory disease called Eosinophilic Esophagitis [ee-uh-sin-uh-FIL-ik].   They were each diagnosed around the age of 18 months old.  This disease affects us all daily but especially these 2.  You’ll be hearing more about their personal stories as we participate in Eosnophilic Awareness week in May.

EE, as we call it, is a disease that is often misdiagnosed.  The symptoms include:

    • Reflux that does not respond to usual therapy (medicines which stop acid production in the stomach)
    • Dysphagia (difficulty swallowing)
    • Food impactions (food gets stuck in the esophagus)
    • Nausea and Vomiting
    • Failure to thrive (poor growth, malnutrition, or weight loss) and poor appetite
    • Abdominal or chest pain
    • Feeding refusal/intolerance or poor appetite
    • Difficulty sleeping

We’ve lived with every one of these at some point and time.  The reason for these symptoms are tiny aggravating white blood cells called eosinophils.  Eosninophils are a very important part of our immune system but in a high number they can cause problems, especially when they begin to attack because of necessary foreign objects (such as food).  Their attack causes swelling and inflammation in the esophagus that in turn leads to many of the symptoms listed above. Left untreated, the inflammation related to EE will begin to damage the esophagus, resulting in narrowing of the esophagus (stricture) and in increase in fibrous tissue (fibrosis).  How is it diagnosed?  Edoscopic surgery and biopsies.  Tobin has had this done 6 or more times and Lilly is just 1 so far but will have another one soon. During an upper endoscopy a tube is sent down through the mouth.  The doctor looks at the esophagus, the stomach and the first part of the small intestine.  Pictures are taken and small tissue samples.  It is always so hard to leave them in the hands of a surgeon, especially when they are afraid and upset.  We’ve had one EXCELLENT anesthesiologist who allowed us to actually walk into the surgery room and sit on the bed with Tobin.  He told him about all the stickers and stuff he was hooking him up to.  At Children’s Hospital they have this HUGE and I mean HUGE box FULL of Lip Smacker’s chap sticks.  He got to choose a flavor and the chap stick was rubbed on the inside of his mask that delivered the stinky gas to make him go asleep.  We sat and counted with him until he fell out.   We’ve learned the longer the surgery takes, the worse the news.  No matter how many times he’s had it done, it is still no fun.  
There is also extensive allergy testing that helps diagnose unsafe foods.  They’ve both had blood tests, prick tests, and patch testing more than once….we are now on a yearly basis for all of that.  That’s no fun either!!  Surgeries, testing, prescriptions, and lots of doctor visits have become part of our normal routine.  Having good doctors is a HUGE plus!!  I’ve been told by a doctor before, “oh I don’t get to see that a lot, I’d love to get my hands on him!!”  NO THANK YOU!!  Those words automatically make you a NOT GOOD doctor in my book!!
Treatment consists of:
drugs- we take lots of these
elimination diets: We have very strict diets!  Their allergies include: wheat, oats, barley, rye (all gluten), fish, shellfish, ALL TREE NUTS!!!, eggs, soy & corn.  So we STRICTLY avoid ALL of these things.  Poor Lilly enjoyed some Oreos she’d gotten from the pantry recently (I rarely keep things that we can’t ALL enjoy…but…I had a hanckerin’ :( .  We found her after about 5 were missing from the package.  In less than 20 minutes, we were reminded of why we avoid such things.  Needless to say, the pantry was reorganized and now I make sure the door stays SHUT!
Some children are also subjected to be formula fed through feeding tubes because there are no safe foods for them. 
We’ll also be participating in the 3rd Annual Eat Like Us For A Day in May.  We pretty much do that every day but I’ll definitely make sure I go all the way on May 20th.

At this point, there is no cure for Eosinophilic disorders.  But there is always hope!

I hope I haven’t completely bored you all to death.  And this is by no means a comprehensive report on everything there is to know about Eosinophilic disorders.  You can read more for yourself here:
http://www.apfed.org/treatment.htm
Nor is this a complete report on how this affects us and our children daily.  There will be more on that in the days to come also.  But I will say that Eosinophilic disorders completely change your life.  It’s a disease where your body fights against the food you need to survive (or other things that you may only breath in).  And we are a society that revolves around food!!  Birthday parties, snacks at school/Bible study/church/etc.  restaurants….and the list goes on.  I’m thankful that God has blessed me with a love for research and the kitchen because I need them both to be able to provide appropriately for my children.

So, will you participate in Rare Disease day if only by thinking of, praying for, or taking an initiative to see what you can do to help those who suffer from rare diseases around your city, state, nation, and world?

Both of these pictures were taken on the way home from one of our many trips to Children’s Hospital in Birmingham, Al.  For our doctors we see there and in Huntsville, I am beyond thankful.


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{ 4 comments… read them below or add one }

Jessica February 28, 2011 at 2:52 pm

Thanks for bringing this day to our attention, Hope. I hate to hear that your little ones (and you) have to battle through this condition but it sounds like you have a good handle on it all. I'll definitely keep your little ones and others (like my niece, Lindsey suffering with DIPG) in my prayers. I hope they find a cure for you guys soon!!

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Hope Sewell February 28, 2011 at 3:06 pm

Thank you Jessica!! We think of and pray for your family and Lindsey's healing often! Hugs!

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Nicole Green February 28, 2011 at 10:27 pm

Hope I will keep your family in my prayers. You are an amazing mother!

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April March 3, 2011 at 1:21 pm

Thanks for sharing this Hope:) Very informative and eye opening, I'll echo the previous comment..you are an awesome mother!! I will definitely pray for your little ones:)

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