A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.

Tuesday, February 12, 2013

Rare Disease 12 - Eosinophilic Esophagitis

From Wikipedia:

Eosinophilic esophagitis (eosinophilic oesophagitis) is an allergic inflammatory condition of the esophagus. Symptoms are swallowing difficulty, food impaction, and heartburn. The disease was first described in children but occurs in adults as well. The condition is not well understood, but food allergy may play a significant role.

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This disease caught my eye on the Patient Stories section of the Global Genes website.  Here is one girls story:

Allergic To Eating Food – Samantha Lives With Rare White Blood Cell Disease Called Eosinophilic Esophagitish

Depsite being unable to eat from Eosinophilic Esophagitis, Samantha loves to cook and bake. 
 
Your baby is born. You count ten fingers and ten toes. Everything’s perfect.  Your baby “seems” healthy. When my daughter Samantha was born in 1997, she was a perfect pink bundle of joy. I assumed she was as healthy as her older brother, Carmen. As the months and years went by, her health became an issue. She vomited constantly, suffered from severe reflux, stomach pain, and diarrhea.  At the age of 10, after years of being misdiagnosed, she was diagnosed with Eosinophilic Esophagitis.

Eosinophilic Esophagitis (EoE) is a rare white blood cell disease. It is characterized by elevated eosinophils in the esophagus. It is an auto-immune disease that causes the body to think food is a parasite and attacks itself. It causes the body to be allergic to many or all foods. This disease affects both children and adults. There is no cure.

Symptoms include vomiting, severe stomach pain, diarrhea, reflux that doesn’t respond to medicine, food impaction, difficulty swallowing, joint pain, throat clearing, chest pain, difficulty sleeping.
When Samantha was diagnosed, it was very scary. Suddenly, everything became a struggle. It takes a huge toll on the child and family. Family dinners, holidays and parties became stressful or non-existent. Samantha was put on rounds of steroids that seemed to mask her symptoms but did not take away the EoE cell counts. She has to undergo countless endoscopies, colonoscopies, blood tests, ultrasounds, MRI’s, allergy tests, etc. Doctor visits became the norm.

It often causes friction with family and friends who simply do not understand the severity of the disease. People will often comment on how well she looks. They do not realize that even though she is beautiful on the outside, her insides are being destroyed by the very thing she needs to survive. Food.

When Samantha was 12, her doctor decided that we should try the top 6 food elimination diet (milk, eggs, wheat, soy, nuts and seafood). We also eliminated corn and beef. Grocery shopping became a nightmare. Every label had to be read. This helped her cell count somewhat but EoE symptoms persisted.

At age 13, in January 2011, we made one of the hardest decisions ever. Samantha and I sat down with her doctor and discussed how to get her better, lower her cell counts and figure out which food(s) were causing the EoE. That month, she went through major surgery and had a G tube (gastronomy tube) placed in her stomach. My child would lose ALL food and would be fed strictly through the feeding tube a special hypo-allergenic formula. We would wipe the slate clean and start over from scratch, reintroducing one food at a time. Food trials have been stressful, painful and discouraging. Right now, all Samantha eats is white potato and her formula feeds.

School is a big hurdle for EoE kids. Samantha attends school in Cape Coral with her special backpack that contains her formula and feeding pump. Countless days of school are missed. She is enrolled in home-bound programs as well.

Ironically, Samantha loves to cook and bake and exceeds in her culinary class at school. Through all the pain and suffering, Samantha remains a strong, brave kid with a great attitude. In the meantime, we continue to pray for a cure.

That’s all we can do.
Susan Santora McArthur
Samantha’s Mom
Please visit us on YouTube: http://www.youtube.com/watch?v=-zBBS6Vd6Wg


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Additional information on EoE can be found here.


EoE is just one of 7,000 rare diseases, most without cures and very few treatments.  Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.

Rare Disease Day is February 28, 2013.

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