Articles Tagged with BMT

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One mother’s hope, a cure for EB

IMG_0282_1-25Elisa is my third daughter and she was born with Epidermolysis Bullosa (EB).  She has a severe form of the Recessive Dystrophic form of EB .  What is EB? The scientific answer is: “a genetic disease where the lack of collagen VII (the glue for your skin) causes the layers of skin to not adhere to each other and form blisters”. The truth is that EB (in severe forms) is a long, terminal disease.  Yes, because no matter what you do as a caretaker of someone with EB, after years, or even only a few months of every day suffering they die.  So, for a parent, in my case a mom, how am I suppose to wrap my head around the fact that I am going to bury my daughter? It is just the most unnatural thing that a parent can think of. IMG_0393_1_30My Elisa, has an inexplicable severity in the mucosal membranes (the whole GI tract), so no matter how careful I can be or how meticulously I bandage her, I cannot prevent the internal blistering.  At only three months she already had been in the ER two times for two episodes in which she nearly suffocated.  Daily, painful dressing changes of an hour or so to wrap every single blister and to separate fingers and toes or they will fuse together; dreadful baths where you have all her body exposed and the fear of sheering the skin off; constant itching due to the deterioration of the nerve endings because of the inflamed wounds; chronic not healing wounds, to disinfect constantly to prevent infections; eyes blisters and or abrasions, and much more….this is the daily life of an for someone with EB. For the first six months of her life I didn’t know how I would have survived, how my family would handle the whole thing. Elisa’s sisters (Greta 6 and Stella 4 ) could not cuddle her, play with her, feed her and could not understand why.  All of your plans, dreams, and routine are broken. We can’t go out all together, we can’t bring her to crowded places if she has wound on her face, the ones that you can’t cover and inevitably, the family gets split. You try to keep spirits high, you keep reminding yourself to live day by day, enjoy every moment.  Then you wake up in the morning to the same “groundhog day” and you see your daughter sleeping in a pool of blood and fluid from a blister in her mouth and or esophagus and you are actually happy about it because it means that it popped and she didn’t suffocate while sleeping.  Then you start all over again, your EB day.  Now, you can get Freud as your shrink but, really, can you get used to all this?  Or to the idea of seeing you child suffer day and night and knowing that the end of this will be only when she dies?

IMG_1093No, that is my answer.  I can’t.  I chose hope, hope that here is someone out there that could change things.  And I found that someone.  We met Dr. Tolar and our life changed. He is conducting a trial for who suffer from EB.  The idea is to give the patient healthy stem cells from a donor in the hopes that these cells will go and fix the wounded sites and produce the missing collagen for a healthy skin.  It is not a cure but, in cases like Elisa could improve her condition and give her a life that she would not otherwise have.  We decided that we would not watch Elisa suffer the few years of life that she had in front of her and try to make her life better knowing that there were risks, or that she could not even make it.  But, did that really matter? She gave us the answer when she became so sever that needed an esophagus dilation almost every month.  IMG_2485At the age of 16 months Elisa underwent the bone marrow transplant at the Children’s Hospital at the University of Minnesota.  Dr. Tolar has been on her side since she was four months old and we prepared her as much as possible for this “system reboot!”.  We are now at day +180 and her life has already changed. There are no dressing changes anymore, and all the chronic wounds are healed.  Hands and feet are always exposed and she can now touch mommy’s face, and grab a balloon or anything that she could not do with gloves. She does not itch like before, only when blisters are healing.  Yes, she still gets blisters but they are smaller and heal in a matter of days.  She had few complications from the transplant that we needed to address and we are still dealing with some side effects from the drugs.  It is a long recovery process but she can now sleep through the night and she is happy almost all of the time. I don’t know if she will make it, we are still in the process of fixing things.  What I do know is that she, among others, have been part of the cure for EB.  Anything we have gained, anything we have learned with Elisa’s BMT will not only benefit her, but also those that will follow.  When Dr. Tolar finds the cure it will be because of Elisa and all the other children that underwent this life changing transplant.  My only hope is that it will come soon enough so that she could live the rest of her life without EB.

 

-Gabriella, Elisa’s mommy

Sharing your gifts…advocate and make a difference

Hope, there is always hope.  It is something that I firmly believe…and hope, the difference does start with you…

In the past I have been asked about what lead me to Pioneering Unique Cures for Kids and the work being done at the University of Minnesota.  The answer is actually quite simple.   When I first learned about EB, after coming across “EBing a Mommy” (and reading the entire thing) I began researching.  When I read that there was no hope, I started search for anything, trying to find hope…something, anything really. I would stay up late at night reading anything and everything I could. I needed to know that it was not all heartbreak and tragedy. That is exactly what I got when I found Bella’s blog. When I started reading it, Bella was already gone, but there was something about her story that gave me this sense that there was hope. Hope because there was in fact this incredible team of doctors at Amplatz Children’s Hospital working so hard to give these kids  a better life.   For the first time, I was actually excited to live in Minnesota,!  I knew that there was a door opening and I also knew that this was an opportunity to make a difference…there was no way I could walk away from that!  From that moment on I have just allowed my heart to lead me, and the compassion and love for these children (and adults too) drive me.

Often we think that we have to do extraordinary things to make an impact, but really some of the simplest of things can make such a difference to those who are faced with the many challenges of EB.  Remember there are many different ways to advocate and everyone’s path is different.  The definition of advocate is simply this: a person who publicly supports or recommends a particular cause or policy.  Many of you advocate daily through social media and in your communities.  You make a difference in all of the things that you do and it shows.

Melinda Warner was featured in The Bryan Times (Ohio)

 

Last week I saw more posts on Facebook and Twitter than I ever have.   Not to mention the number or local news articles that have been posted.  People all over were sharing stories and information on their blogs and on their pages.  Not only were there a lot of things going on in the media, but there were awareness events being held all over the country, like this amazing group in Nevada who raised almost $1100 during awareness week.

(You can read about their fundraiser here http://tropicalsmoothiecafemak.wordpress.com/tag/epidermolysis-bullosa/)

Michelle Shriver and her group at Tropical Smoothie Cafe in Nevada

Everywhere I looked I watched as people from all over came together to support an amazing community, it was truly an beautiful and inspiring thing.

Although you may not think so, you all have something to offer, you too can make a difference.  We all have special gifts that we can share, that we need to share…

“There is a vitality, a life force, an energy, a quickening that is translated through you into action, and because there is only one of you in all of time, this expression is unique. And if you block it, it will never exist through any other medium and it will be lost. The world will not have it.” -Martha Graham

I want to encourage each and everyone of you to keep the momentum of awareness week going and share your gifts.  Maybe you are a great blogger who can offer to share the stories of some of these families, or even help them set up blogs of their own.  If you are a photographer like me, you can offer a tremendous gift to families through your portraiture.  Many moms I know are incredibly crafty and have their own businesses in which they can donate proceeds to help.  You can even do what my friend Andrea Ness has done, she coordinates a run in her community that is in honor of a sweet little girl Aubrey Joy Oberlin.  It is an amazing event that is driven by her dedication and her passion.  The list is really endless and every thing counts…every bit, no matter how big or small it all is part of the difference.

If you are reading this, I have no doubt that EB has touched you in some way.  Maybe you have been inspired by Tripp the way I have or maybe Easton, Liam or another person suffering has inspired you and you are looking for ways to become involved.  Please reach out, I, along with others are always more than happy to help people find ways to share their gifts because they are important and they can have a great impact.  So, let’s work together and make a change.  We can all  help the EB community, educate others, and support the research that will change the lives of many…are you ready?

Okay…it is time to Do Something.