Personal Stories of others with EB

Mrs. Pat Barbrey: Woman of Courage and Determination

By Gena Brumitt Gruschovnik 

   
 
My mother, Lillian "Pat" (Brumitt) Barbrey was born in Rogersville, Tennessee, on April 24, 1934, a premature baby at 6½ months. She was born with Recessive Dystrophic Epidermolysis Bullosa, or RDEB. The doctor assured my grandmother (Nana) that her newborn daughter would not live a day. When she arrived in the world weighing less than a pound, her skin had been traumatized during birth and slipped off in places. She was in very poor shape. The country doctor knew nothing of her condition, only assumed things would get worse rather than better. They wrapped her up and laid her by a chicken incubator to keep her warm, and Nana, who could not breastfeed, fed her baby sugar-water as if she were a hummingbird.

I’m pleased to tell you that God saw fit for my Mom to live nearly 66 years with this condition. She endured a great deal of pain, but she loved life and embraced it. All of her doctors said Mom lived longer with her severe form of EB (Hallopeau-Siemens subtype) than anyone else on record, and the National EB Registry confirms this.

My grandparents moved to Maryland when Mom was 10½, and took her to National Institutes of Health (N.I.H.) to see if anything could be done to help her condition. She was 29 pounds at the time. Two doctors checked her over, and neither knew exactly what they were dealing with. One was particularly insensitive, saying, "It’s just like cutting off a finger, you can’t grow one back!" The other dermatologist, Dr. Gant of Navy Medical, was a consummate professional. He said he thought he could help her, and this man devoted many years to working with Mom. At N.I.H., she had the first surgeries to separate fingers so her hands could be more functional, although recovery was very painful. He prescribed vitamins, gave her iron to combat anemia, and she continued to "work" her arms and legs to increase flexibility. One of the worst problems with RDEB is the drawing-up of the limbs, and Nana and Mom worked very hard at prevention. The slow, persistent bathtime exercises worked wonders.

Shortly after they moved to Maryland, Mom was out to supper with her parents. They saw a couple enter the restaurant with two children, one noticeably impaired. My mother asked Nana, "Mama, what’s wrong with that baby?" She responded, "Why, honey, that baby doesn’t even know it’s in this world. Remember what I told you? All you have to do is look around, and you’ll see someone who’s in worse shape than you are." Wasn’t that wise counsel for a sensitive child who might spend the rest of her life feeling sorry for herself because of her medical condition? Certainly, my mother adopted this sage advice, and lived it.

Mom felt her adolescence was somewhat delayed, recalling that she still played with paper dolls at 15—but she filled out a little bit by the end of her teenage years. She learned to drive and got her license, and that helped her to feel more mature and self-confident. She talks about one double-date she had: "The four of us went to the Shoreham Blue Room, and he was an Arthur Murray dance teacher! And we rhumba’d and samba’d and tango’d and cha-cha’d and did everything imaginable, and I guess that was one of the very best dates I had, until I met my husband, of course… but… don’t feel that you can’t go out and have fun, ‘cos you can. You just have to be careful who you choose to have fun with, and make sure that they’re gentle and kind and a good person in their heart… because you don’t want to get hurt."

She was such a lady! When I was a child, Mom always smelled of White Shoulders perfume; she wore fancy dresses with matching hats and purses, and tiny high-heeled shoes that she ordered from a catalog called "Cinderella." She stuffed the toes of her shoes with tissue to make them fit, because her feet were uneven and misshapen, and she had a hard time finding "ladies" shoes in her size. She took very good care of herself. Her makeup had to be just so, and her hair was fashionably styled (pink and green jars of Dippity-Do were permanent fixtures in our house).

I was born in 1960, and my mother and father parted ways before my birth. I was a "breech baby" and the doctors performed a C-section. It was difficult for Mom, especially when the skin on her abdomen rolled up "like a venetian blind," but she survived my birth and excelled at motherhood. The doctors had continually told Mom that her baby would have the same condition she had, but she insisted her baby would be healthy and she was right.

The role of being a mother came naturally to her. I had pneumonia twice as a child and often contracted croup. When I was sick and Mom couldn’t afford medicine, she’d take a basketful of her homemade baked goods to the local pharmacist, Doc, and he’d send her away with medication to nurse me back to health.

When I was little, Mom soothed me to sleep at night by gently, slowly tracing my eyes, nose, mouth and cheeks with her rough, scarred hands, a method I now use for my own daughter with decidedly less skill. She had a wonderful voice, and sang in a church choir in her youth, but I best remember her singing, "Oh, What A Beautiful Morning!" when she threw open the curtains on sunny days, "Avé Maria" at Christmastime, and of course, my favorite lullabies.

Mom worked full-time as a negative stripper for Vitro Industries, and part-time as a beauty counselor. When I started school, she was so worried I’d be distressed on my first day that she took the afternoon off from Vitro and drove to my school. She found me outside at recess, playing happily with several other children, and she sat in the car and cried, because I was growing up. She laughed when she told that story, as she often laughed at herself.

It was hard on me as a child when I suddenly realized Mom was different. Children at school were cruel to me because of how Mom looked, and I found it very confusing, because to me she was just "Mom" and I never looked at her through others’ eyes until then. I began to feel very protective of her, even as she was busily protecting me.Mom and Dad were married in 1966. She described Dad as loving, patient and understanding: "I’ve been very fortunate… I had a lot of joy and a lot of happiness in my life." My brother was born in 1967, and my sister in 1973, also C-sections. Doctors didn’t want her to get pregnant again, and absolutely insisted my sister be the last, so Mom had a tubal ligation. She said, "I took care of my children and I loved every minute of it, and they grew into wonderful human beings. I hope I had a little something to do with that. Now, of course, I’ve been going through this period with cancer, and… it’s not easy, it really isn’t. But we’ll make it though one of these days, I’m sure." Family and friends were the focus of Mom’s existence, and we feel very lucky to have had her shining example in our lives.

I remember when I first started dating. Mom would extend her hand to shake, like Jacqueline Kennedy Onassis meeting a head-of-state. Sometimes, a boy would automatically put out his hand, and then do a double-take when he saw Mom’s! Often, they’d turn white, their jaw might drop, or they’d jerk their hand back as if she had leprosy (the guys who treated Mom like she was no different from their own were bumped up a notch on my "may have potential" scale). My family laughed about these reactions, but I know what it must be like for you when people act like your disability is something contagious. This, second only to the physical aspects of EB, must be the most devastating thing about the disease.

Mom’s right hand was fist-shaped with the thumb slightly separated. She used it to grasp flat objects or hold a pen. The middle and ring fingers protruded from her left hand, which was not as functional as the right. Mom didn’t have fingernails or toenails except when she was very young, or lips to speak of. Her frenulum was abbreviated, so her tongue didn’t work as it should; her scalp grew hard little "seeds" under the skin; her elbows, knees and shins were very reddened and scarred; and from the wrist and ankle, her extremities were disfigured. Hand surgery results only lasted a few years because of persistent blisters and contracting digits. She had severe tooth decay and eventually had plates custom-made. Her eyesight failed somewhat and her tear ducts malfunctioned, resulting in reduced lubrication or "dry eyes." Mom lost most of her hair, beginning in her 30s. She wore wiglets, and then wigs, to compensate. Chronic sores were a real problem, sometimes taking months or years to overcome, but she never gave up. Until recent years, when better topical medications became available, Mom used just lanolin, gauze and paper tape for the daily bandages, which she applied herself 90% of the time.

The past few years of Mom’s life were extremely difficult, as the squamous cell carcinoma that started slowly became life threatening. Initially, her family doctor had removed a mushroom-like growth from her tongue. The growth was biopsied and the diagnosis indicated the sample might be cancerous, but her normal skin cells were so similar it couldn't be confirmed. Then, about five years ago, Dr. Parlett at University of Virginia (Charlottesville) diagnosed squamous cell carcinoma on her hand and foot. Perhaps smoking was a contributing factor (she’d smoked for much of her life), but this cancer has been linked to RDEB, usually arriving like an uninvited guest in the second or third decade of life.

Mom agreed to have cancerous cells removed several times from her left hand and right foot, but the cancer metastasized and further partial removal was impossible; amputation became the only choice. This was difficult for Mom, who had kept her mobility up to that point. Suddenly, she was wheelchair-bound after more than 60 years, which was very traumatic.

Mom had irritations and blisters in her throat all her life, but she didn’t have an esophageal dilation until recent years (scar tissue had built up so that her esophagus was more closed than open). She had a few dilations when, about a year ago, a new family physician (who had no experience with EB) attempted to dilate her esophagus and accidentally perforated it. Her lungs filled with fluid and collapsed, and she was rushed to the hospital. There, she suffered from pneumonia and nearly died, but beat the odds yet again. The result of all this was that Mom had to get a gastrostomy tube, and she was never able to eat again. I don’t have to tell you she rued the day she let an inexperienced (with EB) doctor perform that last dilation. Please, even if it means travel or extra expense, protect yourself and make certain your doctors know what they’re doing.

Mom was very glad to have lived a full life, even though it meant she sometimes took chances. Playing it totally safe would mean living like an invalid, and life is something one has to experience, if one can. Mom plowed ahead and made the best of it. She went to school, drove, worked, got married, cooked, cleaned house, and had three EB-free babies who gave her three EB-free grandchildren.

I also think it’s important that Mom had a child-like faith in God. She really trusted Him, and that gave her courage. She was eternally optimistic that things would go well, and she was happy with her lot in life. She was very compassionate, and she nearly always had a smile on her face, despite her infirmities. When Mom heard about ongoing genetic research, she was very excited about it for others who would benefit. However, she totally disagreed with termination of a pregnancy because a fetus tested positive for EB, because she felt that was like saying her life wasn’t worthwhile. I can’t blame her for feeling that way—she fulfilled her every dream, as humble as those dreams were. So many healthy people waste their lives, oblivious to their own good fortune.

Mom died of a particularly aggressive form of pneumonia on February 16, 2000. Antibiotics were unsuccessful in fighting the rampant pseudomonas infection. My family was gathered around her, having come to be by her side from all over North America. We let her know it was okay to go, that we’d be okay, and we knew she’d be with us always. Each time we thought a breath would be her last, she managed one more. I held her precious right hand, which had held me and soothed me and fed me and loved me, and she finally drew her last breath. I know she suffers no more from the pain she lived with all her life, but I will always miss her.

It touches my soul so deeply when I hear of children dying with EB, never having the chance Mom had to live life fully. If a cure is in the near future, what a wonderful thing that would be! In the meantime, I hope we can all try a bit harder to accept others. Groups of people don’t deserve to have labels stuck on them because of race, sex, religion, or a disability. You can be a capable, productive member of society, and my mother is proof. It’s up to you how you handle any prejudice you encounter. You can allow others to make you feel bad, you can laugh it off and overlook their ignorance, or you can attempt to make them better informed.

You are different; you’re unique in facing your particular challenges. Whatever you do, don’t allow yourself to feel like an outcast, or you’ll be additionally burdened by defeat. You must learn to feel comfortable with who you are, and keep it all in perspective. Remember, you’re a person first; it’s secondary that you were born with EB. Embrace life and practice being confident, because attitude really is everything! As W.E. Henley said, "I am the master of my fate, I am the captain of my soul." I know sometimes it’s hard to cope, but seek out others who can help you do it when times are tough. My brave, determined mother saw every day as an opportunity for happiness, and she loved with all her heart. I learned that from her and I hope you can, too. Mom was 65! Perhaps the common notion that there is little hope for life beyond 30 years is good for fundraising, but it’s a poor motivational message! If my mother can be a source of inspiration and hope for you, let that be her legacy.

Copyright © 2000 by Gena (Brumitt) Gruschovnik

**if you'd like to share your story, please email me and i'd be happy to include on my site.**