Pioneering Surgery For Rare Skin Disease

Tot Gets Stem Cells, Marrow, In Hopes Of Saving Him From "EB"

(CBS)  When raising kids, bumps and bruises are a part of every day life. But imagine if the most minor fall or scrape caused your child's skin to blister and perhaps even peel right off.

That's a daily reality for the Liao family of Clarksburg, N.J.

Theresa Liao and her husband have four sons, two of whom have the rare skin disease known as epidermolysis bullosa, or EB.

Three-year-old Jacob and 18-month-old Nate both have the most severe form of the disease.

However, Nate recently underwent a risky experimental procedure -- the first of its kind -- that has the potential to help his condition.

If it's successful, doctors say, the implications could be huge for EB sufferers, and Jacob and Nate may be able to live normal lives.

As of now, there's no way to treat children with EB, which usually appears shortly after birth.

Parents try to reduce the potential for blisters, wounds and infection by bandaging their children from the neck down every single day.

Despite these precautions, people with EB often die young from an aggressive form of skin cancer.

Theresa refuses to accept that as her sons' fate.

Since Jacob was born with EB in 2004, she's been battling every day to find a treatment to help them.

At the moment, the Liaos are awaiting the results of a risky, experimental Oct. 19 operation at the University of Minnesota Children's Hospital, in which Nate was given stem cells and bone marrow from his healthy brother, Julian.

Doctors say they should know soon whether the procedure is helping to re-grow the "hooks" and "glue" that connect skin to muscle in healthy people.

If the procedure is successful, Theresa plans to donate bone marrow to her son Jacob, hoping for a similar outcome.

Theresa spoke withThe Early Show co-anchor Harry Smith Tuesday, along with biologist and transplant surgeon Dr. John Wagner, who performed the surgery on Nate, who's still in isolation to protect him from infection.

Theresa's sons Julian, 2, and Jacob joined them.

The wounds from EB, she told Smith, "are constant. They heal, but then (skin) just breaks down."

But, she says, she wouldn't, and won't be deterred.

"In this day and age," she said, "there has to be something. There's so many things going on, research, so many things all across the country, all across the world that, when someone tells you, 'You have to just take this and go home,' that's not true. It takes a lot of research and a lot of work and a lot of diligence, but that's what moms do."

Wagner said he met Theresa in 2004 in New York when giving a presentation. She "came up to me and basically asked me to do what I could to save her child from this life threatening, horrible disease."

He confirmed Smith's statement that Theresa "basically thrust the child into your arms and said, 'You've got to help me save my kid.' "

At that point, said Wagner, he went back to the University of Minnesota and joined with researchers at Columbia University in New York to come up with a lab model that proved stem cell therapies could "cure this terrible disease."

That and other work led to the operation on Nate.

Wagner says doctors will take Nate back to the O-R in ten days to take a piece of his skin and put it under an electron microscope for an indication of whether and how well the procedure worked -- checking for the microscopic connectors, of skin to muscle, that EB sufferers lack.

Genetic testing could "absolutely" find EB ahead of time, Wagner says.

And Theresa vows to keep fighting for her sons, saying, "I don't take 'No' (for an answer)."

"She's not!" Wagner confirmed.

For more on epidermolysis bullosa, from the National Institutes of Health, click here.

[ebrelay]

The Rallies for %u201CWalk a Mile in My Shoes%u201D began at Battery Park, where the crowd was drenched by rain (or because we were ALL moved to tears)... then on to Thomas Jefferson University, Cincinnati Children''s Hospital, St. Louis Children''s Hospital, Denver Children''s Hospital, Covey Center for the Arts in Provo, and a Final Rally at Stanford University. A very successful "Walk a Mile in My Shoes" EB Benefit also took place on October 28 at www.secondlife.com, which has more than 9 million avatar residents globally.

We received fantastic feedback from our first nationwide awareness campaign (in unity with DebRA and EBMRF), even at the DebRA International Conference in France that followed "Walk a Mile." I will continue to strive for national and international awareness, with the support of the EB community and in unity with our major nonprofit groups.

If YOU wish to participate, sponsor, or donate toward NEXT year''s "Walk a Mile in My Shoes" activities, please email me at [e-mail] to get a head-start. Next year will include more communities in the U.S. and hopefully in Canada, and will require more leaders to work closely with me from the outset.

If you want to get team apparel from our inaugural campaign, these items will be available at www.ebrelay.org by November 15. The documentary of this amazing journey is in-process, and will be completed in time for Christmas orders. We greatly appreciate your generous support!

Gena
Founder, Event Organizer

[ebrelay]

Fact-based awareness is a huge hurdle for those with EB; it%u2019s a relatively unknown genetic disease. Yet, it affects both genders and every ethnicity throughout the world. Most people hear "one in a million" and think, %u2018This doesn''t really impact me in any way.%u2019 However, in an average shopping mall filled with shoppers, there may be 15+ people who LOOK like %u201Cnormal%u201D but carry a mutated EB gene. We all have thousands of mutated genes - some do good things like fortify our immune system - EB happens to be one that creates very harmful consequences.

This is what society needs to understand - when I look in the mirror, I appear %u201Cnormal,%u201D but I am carrying an EB gene in my genetic makeup. You might be, too! Recessive inheritance often skips so many generations (to have a child with EB, both parents must carry the mutated gene) that it''s unheard of in a family - this is the case with mine. And guess what - spontaneous mutations occur, too. THAT is the reality I want to get across to people, so that more WILL care.

Awareness also creates an environment where medical practitioners and educators are better informed, to improve their comfort level in caring for a person with EB. It is my hope that there will also be a residual effect for our nonprofits in terms of financial support toward research for a cure and effective treatments, and family programs.

More on our inaugural EB awareness campaign%u2026

[ebrelay]

My mother had RDEB HS. Her mother was also told that she would not survive when the doctor saw the fragile nature of her flesh. Time after time, they were told she could not have a normal life. In spite of this, she prevailed to the age of 65, while fighting infections and many other effects of EB, to fit into society, to marry, to have children and grandchildren. This is not the typical story, however.

Having seen my mother''s pain and suffering firsthand, and knowing her wish to help others who endured the same torment, I needed to find some positive way of taking action on behalf of others with EB, in her memory. I%u2019m an advocate for people with EB in my role as Director of Awareness & Education for DebRA Canada, and as a volunteer for DebRA of America and EB Medical Research Foundation. I applaud Theresa for her courage and determination in taking this step for her sons. I am praying for little Nate!

On a positive note: after extensive lobbying in 2005 and 2006, Congress and the Senate enacted "National EB Awareness Week" to take place the last week of October every year. In this, our inaugural year, many people participated in a successful campaign, "Walk a Mile in My Shoes" Relay-Rally. We began our mission with a ribbon-cutting ceremony on October 25th (using a length of gauze bandage cut with medical scissors) at "Liberty Enlightening the World," more commonly known as the Statue of Liberty.

More on our journey to follow%u2026

[bear384]

Its not just any disease its a disease that kills young people. People with EB Usaully have a lifespan up to 30 yrs old if it has been taken care of right. It shouldn''t be ignored anymore. I''m personally sick of seeing doctors who dont know anything about it. Yes it may be rare but look it the information today about it. Theres more then enough to educate every new young doctor about it. I am so happy that there is something being done about it . Its a chance and hope for a better or even perfect life to me and im sure many others.

[bear384]

Well Ive been living with this disease for the last 16 years of my life. I have dominant dystrophic which is one of the main subtypes of EB ( Dystrophic). The doctors told my parents when they found out i had EB that i would more then likely die before i reached the age of 1 and if i didn''t die I''d be in a wheelchair by the time I was ten years old. Well I''m not in a wheelchair and obviously im writting this so im not dead. My EB has affected me so much but i have to say for better not for worse other then the sores and blisters. I have never been told what i couldnt do. Now im showing horse''s in one of the toughest horse show breed associations in the United States and Im ranked High as a competitor ( n no he may be trained and gentle but he is still a horse not to mention 4 yrs old and stubborn). I have to say the technology today is one of the hugest benefits to the people who have the same disorder as I. I hope that this procedure works so that it helps everyone with my disorder. I don''t want anyone else to have to go through the same realizations and judgements as I have. This disorder has pushed me beyond the limits that shouldn''t be pushed and its time that it really should be taken into deeper consideration.

[jjc40393]

My son had jeb and passed away in 2001 a month before his 8th birthady. There ae many subtypes to this diease but the turn out with 2 types are a lot the same. Thank you for taking the time to share this story and to give other families a little bit of hope. I pray this will indeed help the people with the diease and their families.I work with the families now bringing them to the beach each year for a little fun. It warms my heart to see these little fighters come together. I am so glad the doctor took a chance to try even if it doesn''t work the fact is he tried. Most doctors won''t do that when it comes to this diease. I hope you will folow up with this as the story unfolds. Thank you again.

[tailholt-2009]

Hurray to you Theresa. I have a 51 year old daughter who has been fighting EB all her life. I think she was one of the pioneers of EB.It didn''t even have a name at the time she was born and took several years for us to find out what it was and that there was no cure. She has been a survivor and has also helped others on the eb web site . She has been at seminars at Childrens Memorial in Chicago as well as written articles on this dreaded desease. She has had skin grafts several times. Nothing seems to help. So our Prayers are with you and little Nate. I really hope stemcell is the answer to all our prayers. Please keep us informed of your progess and Thanks also to CBS and hopefully yu will do lots more follow ups on EB. My email address is [e-mail]

[jvallely-2009]

My grandson, Gage Wickiser, is 6 years old and has E.B. It breaks my heart to see the raw meat that is normally covered with skin on regular people. I have been with my daughter on many, many dressing changes where he screams bloody murder while she carefully removes his bandages, bathes him (in bleach water), and rebandages him; knowing the pain he must be going through and not being able to help him in any way. When they were trying to pass the stem cell research, I talked to many people, explaining that I believed that stem cell research could most likely be the answer to his cure and asking them to please vote for it. I am hoping that Dr. Wagner can help him too. My daughter is in and out of Children''s Hospital in St. Louis with Gage because of the MRSP Staff Infections, blood transfusions, along with other things. Please pray with me for Gage and all the children with E.B.. Thank You!

[asluke]

The United Kingdom Discovery Channel came to the USA in 2006 living with the Thurmond family for two weeks from Westland, MI & produced a prgram shown in the UK. Many tears were shed in filming, editing and watching of this film. We are still waiting for the USA Channel to purchase and air this very informative program of two teenagers fighting the battle of EB. The strength these family must have is inspiring. They never give up and have hope everyday for a cure. More awareness for drs, nurses and families is imperative. I wish all could see, learn and begin to help these families. Thanks for caring. wwfeb.org is a website with great info on EB. Help save these precious people!

[grant1934]

Correction to documentry "A boy without skin"

[grant1934]

Correction to documentry "A boy without skin"

[grant1934]

It is very interesting that this has now come to public light. About 3 years ago while visiting England there was a documentry called " A boy with skin" . This was the very disease he had. EB. I tried to find information on this when I returned to the USA and it was very difficult. There i one parent that I met at the Dermatology Nurses Association in Feb 2007 who also have a daughter with this disease. He had a fair amount of information on EB. I wrote a small paper about this while at nursing school and it did not go over well because it was not a disease that people are familiar with. It is so wonderful to see that it has now come to light.

[rf35]

For those who so vocally opposed stem cell research on this site in the past...SUCK IT!

[weissaa]

My younger sister was born with this devastating disease. A cure has been in every single one of our prayers since the day she was diagnosed. It is very painful for her both physically and emotionally. It is extremely painful for us knowing that there is nothing we can do but support her and create awareness of EB. I hope that CBS will continue to report on this topic. A cure would be the greatest thing to ever happen for us.

[mommers967]

My brother Bobby Davis from Council Bluffs, Ia suffered from EB. When he was born in 1971 there was a reported cases of 50 in the US. He taught us how to love unconditionlly. He had a smile that would light up the room to hide the pain he endured each day. He lost his fight Feb 1995, however his family still hopes for a cure. I was speechless when I seen the Early Show. My heart goes out to all families that deal with this diease. Not only does it effect the EB child, but the whole family. I would like to know the out come to this stemcell on EB, it would mean so much to my family! My email address is [e-mail]. Thank you for airing this on the Early Show. Diana Mueting, Omaha, NE

[dee0415]

I have a friend in Illinois whose son was born with EB. He is almost 20 years old now. His disease has advanced but his spirit is unbelievable. It is rare that these children live past 25. CBS should interview him to show what an young person with this disease endures.

However, The one thing that was not mentioned is that EB is in a class by itself. It falls under "orphaned diseases"; it affects a small percentage of the population and there is little money to support research. More should be done for these types of diseases.

[jodyseida]

I was very excited when I saw this today. My sister and myself suffer from this disease and have been praying for a cure for this. I would like to know how I can find out if this is a success story after the next test has been done on this child. My email address is [e-mail]. Thank you so much for sharing this story. If this could work, It will change so many lives that struggle day to day with this terrible disease.