Friday, February 27, 2015

Rare Disease Day 2015

Celebrating World Rare Disease Day 2015

The reason why I blog is to raise awareness for ichthyosis. I want others to know about it, learn about it, help me on my mission to educate others and to support a foundation (FIRST) who only betters the lives and families of those affected. Of course on Rare Disease Day I am going to write about skin. But not ichthyosis skin. Epidermolysis Bullosa; EB skin.

Before Evan was born, skin conditions like his did not even "exist" in my world. I never heard of ichthyosis. Never saw anyone with it. Never saw anything online or on TV about it. I didn't know it exsisted. I had no idea what an impact healthy skin has on a human being and how easily it is to forget that your skin helps keep you alive just as any of your other organs do. Not only did I not know that ichthyosis existed, I never knew about another skin disorder which was just as, if not more, devastating that ichthyosis, Epidermolysis Bullosa.

After hearing about the possible diagnosis for Evan before he was born, my husband and I started doing research online. Unfortunately just about 5 years ago the information available is nothing like what is available today. It is quite amazing how the internet and social media has evolved in Evan's lifetime providing the most accurate information at your fingertips. Fortunately we were in good hands and were given the proper and accurate information about Harlequin Ichthyosis from the nation's leading experts. But basically the same time I learned about ichthyosis, I also learned about EB.

EB is devestating. EB is known as the "butterfly skin". I think of it as the polar opposite to ichthyosis. Where I have to scrub and scrub Evan's skin to get all of the thick build up off, EB skin is so incredibly fragile that the slightest friction can cause skin to blister, leaving open wounds. Severe forms not only affect the skin but also the soft tissues and organs. They are just as fragile to the slightest friction; even swallowing, blinking or digesting food causes pain and deterioration. Since there are only "treatments", those with EB endure a great deal of pain during bandage changes and while bathing. Open wounds are not only excruciating but are susceptible to infection. When I first learned about EB, Evan was still in the NICU and things were still pretty intense and critical. A week after he was born the National Geographic Channel aired a show called Extraordinary Humans: Skin. We knew to watch the show since our dermatologist told us a young woman with Harlequin would be featured in it. We watched Hunter's interview first and I remember feeling so relieved but still very confused trying figure out what HI was all about. After Hunter's story was Garret's story, who is affected with EB. After watching his clip I was heartbroken.  Evan was only a week old and I remember thinking to myself that I was glad Evan had ichthyosis and not EB. And I feel guilty and spoiled for thinking that.

Every time I hear someone's story who has EB, I am flooded with emotion.  I follow Jax's story online. It breaks my heart when I see his mother's posts about heading to the ER, yet again, to check his blood platelets. Or when little Easton was born; how my heart ached for his parents as he fought for months and months before he finally got to go home to his family. He as well as Jax are both currently in the hospital having procedures and surgeries done. The first child's story that I followed online was a little boy named Tripp. His mother writes a blog and I began reading it around Christmas time 2011. Not much longer after I started reading about Tripp he got his angel wings. My heart was broken for his mother, Courtney, and for their family. Too many sufferers have lost their life too soon.

Recently, EB has been talked about in Hollywood as Ian Ziering competed on the Celebrity Apprentice and chose an EB foundation as his charity. And the other day on Ellen, Robby and his family were raising awareness for EB on her show. I am so delighted for the EB community to gain more awareness.

I could only hope a cure can be found. I would gladly give up a cure for ichthyosis if one could be found for EB. Luckily Evan is OK. He isn't in pain every single day. Yes there will be bumps in the road and unfortunately possible hospital stays in the future. But overall, as of now, his quality of life is pretty good. I can hug my child. I can hold him tight and not worry about causing him pain or causing his skin to dangerously fall off. That is something that EB parents are unable to do and that is heartbreaking. You can help the lives of those with a rare disease. Especially this rare disease.

Help find a cure!!!
Donations can be made to any of the following charities. Thank you for reading, sharing and helping!

Epidermolysis Bullosa Medical Research Foundation-

Debra- Dystrophic Epidermolysis Bullosa research Association of America

iRefuseEB- I Refuse Epidermolysis Bullosa 

World Rare Disease Day Official Video 2015

Past Rare Disease Day Posts!!!