Raul - A Romanian 'Butterfly' Battling a Rare Disease

Epidermolysis Bullosa - a rare and horrifying genetic skin disorder that has no cure.

Mother Teresa once said: “We want to create hope for the person... we must give hope, always hope.” Today, you, the readers, will learn just how a little Romanian boy, named Raul, was given just that when all odds were stacked against him right from the get-go. With absolute certainty, you will be moved by his courageous spirit, for his struggles even to this day, are agonizingly cruel. Life can be beautiful, but it can also be lugubrious and brutally unfair. 

Simply said, Raul is a special little spirit who has kissed the souls of everyone he’s encountered. His eyes reveal a haunting story but his flicker of a cheeky smile reassures you that he’s not giving up anytime soon. Some people call him an ‘angel.’ Others call him a ‘butterfly child.’ Please be warned that after you read about Raul’s journey, your perspective on life may change even just a smidgeon and/or you may never, ever look at a butterfly in the same way again.

In 2009, in Bârlad, Romania, Raul was born with one of the most devastating and debilitating rare genetic skin disorders called Epidermolysis Bullosa 'EB'. “In the United States, 1 out of 50,000 live births are affected by EB." (1) “EB causes fragility of the skin and, in some cases, other organs. Blisters and/or erosions form as a result of friction, rubbing or trauma. In some instances, blisters and/or erosions occur spontaneously." (2)

Changing diapers can cause blisters. Even the slightest touch, such as hugging, can cause a skin wound. In Raul's case, he cannot be picked up by his armpits as it causes more blistering. He's gently scooped up under his bum and his back/head.

Children with EB are missing a protein called collagen 7 that binds the epidermis and dermis. “This protein acts as the velcro and without this velcro, when this child moves, his or her skin slides apart, blisters and shears off leading to severe pain, disfigurement, and in too many cases, a premature death.” (3) Because their skin is so fragile like a butterfly wing, children who suffer from EB are referred to as the 'Butterfly Children'.

There is no cure.

Raul was born with the most severe form of EB: Recessive Dystrophic EB (RDEB) “A child with a severe form of EB can have a 60% cumulative risk of dying by age 15 and nearly a 100% chance of developing an aggressive, painful and fatal form of skin cancer over the course of his or her shortened life.” (4)

Dr. Anna Bruckner, Associate Professor of Dermatology and Pediatrics at the University of Colorado School of Medicine and Co-Director of Epidermolysis Bullosa Clinic at Children's Hospital Colorado says: "The chronic wounding creates an abnormal environment that allows skin cancer to occur and the skin cancer that occurs behaves more aggressively because of the sun damage."

After Raul lived in the hospital for four months without the proper medical care needed for an EB patient, he was then transferred to the Tutova Clinic – a hospital/institution for those children without parents or parents who did not have the financial means to care for them, like Raul's. It can easily be likened to an orphanage.

While the caretakers loved Raul and took care of him in the best way that they could under the circumstances, he needed a medical team with experience in EB healthcare. The clinic lacked the proper bandaging supplies and medicines to care for him. There was not even Tylenol to help with his pain. Raul was kept in isolation to prevent infections. His parents hardly visited. He was malnourished because he wasn't able to eat much through his mouth due to blistering and the clinic didn't have any gastric feeding tubes to provide the nutrition he required. EB patients need to consume twice as many nutrients in order to heal the wounds. Raul’s condition was deteriorating. With bleak certainty, he had no hope.

Unbeknownst to Raul, hope was on its way in the rarest of forms. Readers, be prepared to meet an extraordinary young woman from Boston who knew at the early age of fourteen, she wanted to dedicate her life working with children. Her name is Caroline. While she humbly preferred and gently insisted to remain in the shadows of this article, the story would be greatly flawed by her omission for the intersection of both Caroline and Raul’s lives has woven a complexly beautiful creation of possibilities. At 21 years of age, Caroline is an exceptional spirit and a stand-out for her generation. On a grander scale, she’s an inspirational reminder, for all generations, of how each and every one of us, has the ability to let love and humanity dictate our actions. She reflects the goodness in mankind. Caroline saved Raul’s life.

Caroline had traveled to Romania numerous times as a volunteer. This time, she was stationed at the Tutova Clinic assigned the task of providing the love and attention that the children hungered for, the human touch which is vitally important in a child’s life especially the developmental stages. When Caroline first met Raul, it was one of those moments where words cannot possibly define or describe the feelings that transcended over her. Caroline's soul had been kissed by this ‘butterfly child’, and intuitively and instantaneously, she knew she had to take action to get him the healthcare that he needed. She was nineteen at the time and had never heard of EB.

While in Romania, Caroline contacted Dr. Daniela Kroshinsky, Director of Pediatric Dermatology at Massachusetts General Hospital about Raul’s condition as well as a few other U.S. dermatologists through email. She asked questions and sent pictures to get advice on how to take care of his condition. From the doctors’ suggestions, she was able to find families in the United States who were willing to donate bandaging supplies for Raul.

After her volunteering mission was completed and she returned to the states, Raul was not out of sight, out of mind. While a very special woman at the Tutova Clinic, named Coca, took care of him, Caroline tried to persuade Raul’s parents to allow him to come to the United States in order to receive the proper medical care he needed and that a clinical trial was indeed possible. For Raul’s parents, possibilities were a dead-end road. The family was already financially strapped taking care of three kids, their one daughter had died from EB at one month old and the medics in Romania assured them of a very similar, dismal outcome for Raul.

Eventually, Caroline’s steadfast passion to help Raul convinced his parents that maybe, just maybe, Raul had a fighting chance with American medical care. Both of Raul's parents signed legal documents entrusting Caroline, someone they had barely met, to be Raul’s guardian and to pursue more advanced medical options in the U.S.

Caroline immediately filed for a medical visa. It was a long, arduous process spanning almost one year, which was eventually denied by the U.S. Embassy in Bucharest, Romania. When that failed, Caroline began the application process for Humanitarian Parole, which thankfully, was approved in a matter of weeks. In an astounding victory, both Massachusetts General Hospital and Children’s Hospital Colorado had offered charity medical care due to his Humanitarian Parole. While several battles had been won, more were on their way.

When Raul arrived at Children’s Hospital Colorado EB Clinic, a team of doctors in various specialties banded together to get a better understanding of his EB subtype and devise a comprehensive treatment plan. At two years old, Raul, severely malnourished, weighed only fourteen pounds. He was immediately given a central line into one of his veins to receive total parenteral nutrition (TPN).  

After numerous blood tests, it was determined that Raul had anemia of chronic disease. His body lacked a healthy red blood cell count, which provide oxygen to body tissues. (5) He was given a blood transfusion and has become transfusion dependent since his arrival to the US. Within three weeks, the hospital removed Raul from the central lines and inserted a gastrostomy tube (G-Tube), because it's less risk for infection and delivers the nutrition right to the stomach. Raul battled fevers, sepsis infections and various other complications but after four months of extensive wound care by the compassionate team at Children's Hospital Colorado EB Clinic, he was ready to leave and travel to the next leg of his journey, Boston, MA.

It is here that the team of specialists at Massachusetts General Hospital provides the necessary medical attention for Raul's condition and the place where Caroline provides a healthy and loving home environment for Raul to flourish and find the strength and hope he needs to battle EB.

The labels of 'caregiver', 'activist', or 'guardian' do not accurately capture the pivotal and maternal role Caroline plays in Raul's life. She loves this boy unconditionally and, as proven by her actions, stands right by his side every step of the way.

Caroline spends forty minutes every other day bandaging Raul and providing the necessary topical medication to his wounds. Baths are sometimes given with a little bleach or salt to prevent infection. Dr. Bruckner at Children's Hospital Colorado states: "Caroline is doing a fantastic job with Raul's skin.”

As Raul is not eligible for health insurance or state aid, and private insurance is still currently unavailable, bandages, meds and other necessary supplies are out of pocket. Bandages alone can cost up to $2,500 a month. Caroline relies on donations of bandages from wound care companies like Molnlycke Health Care and other EB families with excess and the EB organization Debra that has a wound care clearinghouse. Raul takes approximately eleven variations of meds to help alleviate pain, itching, reflux, and anxiety. Other meds consists of antibiotics and multivitamins.

Despite all of the meds, Raul struggles every day in some capacity. This condition is still extremely painful and uncomfortable. He wrestles with infections in many of his non-healing wounds. The blisters and wounds cause his hands to look swollen and burned. The itching drives him crazy. He desperately tries to get underneath his bandages to scratch and when he succeeds, he destroys his skin and increases the size of the wounds. Any non-bandaged area like his eyes become a potential danger zone. As a preventative measure, at bedtime, Caroline slides mittens on his hands to prevent him from hurting himself.

All of his nutrients still come from a g-tube because he is aspirating, cannot swallow properly and has reflux. In addition to EB, Raul also has neurological delays which have caused speech problems. As a result, he's working with a speech therapist, learning sign language and may need to learn how to use augmentative communication devices to help him communicate.

Raul cannot walk due to both EB complications and neurological delays. He’s learning to walk using a gait trainer while wearing AFO’s. (ankle-foot orthosis) Raul is also learning how to use both a manual and power wheelchair for mobility.

What does the future hold for an EB patient, like Raul?

Dr. Bruckner says: "EB patients have reduced life expectancy from a variety of complications, but patients are living longer now. There are adult survivors. Now, we have clinical trials that are modifying or improving the disease course."

And, it's one of those very clinical trials that Caroline is trying to enroll Raul in, in particular, the Bone and Marrow Transplant Program at University of Minnesota Amplatz Children's Hospital led by Dr. John E. Wagner and Dr. Jakub Tolar. The team here has made significant breakthroughs in the treatment for EB using a mixture of stem cells.

Before she's able to do that, however, she needs to get DNA testing for Raul. While they know he has Recessive Dystrophic EB, he may have multiple subtypes and mutations.

Is there a light at the end of this tunnel?

Yes. Yes, there is.

Raul has gained 18 pounds and 4 inches since he's had the feeding tubes. While the future remains uncertain, it's the space between his struggles that makes life beautiful. His ripples of laughter at his favorite Pajanimals character, Squacky, are well earned. The wonderment in his eyes as he pets farm animals is a reminder, that despite all of his setbacks, he has a child's discovery of life. His fascination with cars and firetrucks are just like every other boy and his love for books suggests he likes to create an imaginary world. And most importantly, he knows he's loved by Caroline and all of her family members and that, most definitely, is a life guarantee.

As Abraham Lincoln once said: "And in the end, it's not the years in your life that count. It's the life in your years."

Raul's indiegogo fundraiser for DNA Testing.

[1] www.debra.org

[2] www.ebnurse.org

[3] Jackson Gabriel Silver Foundation

[4] Jackson Gabriel Silver Foundation

[5] Pubmed

This post is contributed by a community member. The views expressed in this blog are those of the author and do not necessarily reflect those of Patch Media Corporation. Everyone is welcome to submit a post to Patch. If you'd like to post a blog, go here to get started.


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