Gena's Inspiration

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 to see the next 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 condition, and the country doctor assumed things would get worse rather than better. They wrapped her up and laid her by a chicken incubator to keep her warm. Nana, who could not breastfeed, fed her baby sugar-water as if she were a hummingbird, and then goat's milk when she couldn't tolerate cow's milk. She used her innate mothering skills, and amazingly, her infant daughter thrived.

My grandparents moved to Maryland when Mom was 10½ years of age, and took her to National Institutes of Health (NIH) to see if anything could be done to help her condition. She was 29 pounds at the time.

One 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 NIH, she had the first surgeries to separate fingers so her hands could be more functional, although recovery was very painful.

If you look closely at the photograph of Mom painting, you can see that her left hand is bandaged and splinted from corrective surgery, while the dystrophic scarring on her right hand still has pseudosyndactyly, commonly called "mitten-hand deformity." Dr. Gant 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, known as contracture. Slow, persistent bathtime exercises worked wonders. (Nowadays, parents turn to yoga and Pilates for their children - but the philosophy is consistent with what Dr. Gant recommended.)

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, and even taught it to me - to think beyond my own little space in this world.

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. Like most young people, mobility was vital to her sense of independence.

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 size-one shoes with tissue paper 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. I was a "breech baby" and the doctors performed a C-section. It was difficult for Mom, 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, thankfully for both of us, she was right. She and my father parted ways, so we lived with Nana and Grandad, but during a one-year phase when their "parenting" decisions clashed with Mom's, we lived on our own.

The parenting role came very naturally to Mom. I contracted pneumonia twice as a child and often came down with croup or allergies that made me cough. When I was sick and Mom couldn't afford medicine, rather than borrow money from her parents she would take a basketful of her homemade baked goods to our elderly local pharmacist, Doc, and he would send her away with medication to nurse me back to health. You would be unlikely to find that sort of transaction in this day and time!

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. Despite the EB, she was a lovely woman!

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 (my stepdad) were married in 1966. She described Dad as loving, patient and understanding: "I've been very fortunate… I've 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. Family and friends were the focus of Mom's existence, and we feel incredibly blessed to have had her shining example in our lives. My Mom had EB, but it did not have her.

I remember when I first started dating. Mom would graciously 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 young men who treated Mom like she was no different from their own were bumped up a notch on my "may have potential" scale. Mom was always a class act; she never got upset - but I know what it must be like for others with EB 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 hands remained "mittened" - her 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. You could actually feel her trapped fingers moving within that mitten of reddened, scarred skin. Mom lost her fingernails and toenails as a baby; her frenulum was abbreviated, so her tongue didn't function as it should; her scalp grew hard little "seeds" called milia under the skin; her elbows, knees and shins were very reddened and scarred; and from the wrist and ankle, her extremities were disfigured. Each hand surgery only lasted a few years because of persistent blisters and contracting digits. She had severe tooth decay from enamel deficiencies, and eventually had dentures custom-made, but it grew more difficult every year to find someone to make them. Her eyesight failed somewhat and her tear ducts malfunctioned, resulting in reduced lubrication or "dry eyes," and she often suffered from corneal ulcerations. Mom lost most of her hair, beginning in her 30's. 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. All of these things are common in RDEB Hallopeau-Siemens patients.

The last few years of Mom's life were extremely difficult, as the squamous cell carcinoma that started slowly (and is commonplace among age 15-35 RDEB patients) became life-threatening. Initially, her family doctor removed a 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, she was diagnosed with squamous cell carcinoma on her hand and foot. 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 dilatation until she was in her 50's (scar tissue had built up so that her esophagus was more closed than open). After a number of dilatations, Mom had to get a gastrostomy tube, and her esophagus closed up so much that she was never able to eat again. And Mom sure loved to eat, even though she remained very small - she was a real Southern gal, and she loved biscuits 'n gravy, buttermilk with cornbread crumbled into it, home-canned green beans with fatback, blackeyed peas, chicken 'n dumplin's - you would have thought she'd be as big as a house, but she typically weighed 70-80 pounds. You see, those chronic EB wounds seep body fluids and vitamins and minerals that would normally go toward growth are redirected to fight infection and heal wounds, which can result in malnutrition.

My Mother, who endured a life of pain from this devastating condition, was very dedicated to her community and to helping the poor and the needy - children and adults.

Many times, our church referred people to my parents and our family would support them until they got back on their feet again. We really didn't have anything extra to give - but still we gave of what we had. Mom was the kind of person who wore her heart on her sleeve - she couldn't stand by and do nothing when someone needed help. It was quite an education. The coffee maker was always on with a fresh pot, and all were welcome. 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.

Yes, her EB was severe, and I had the misfortune of nearly seeing my Mother die on several occasions. She experienced almost every complication of RDEB Hallopeau-Siemens that is known to occur. A few people have a hard time accepting the possibility that some folks with EB survive that long - but they do. Who knows why? My Mom endured a great deal of pain, but she loved life and embraced it, and she had a very deep faith in God! I am sure she was also inspired by Nana's strength of character. Mom visited the National EB Registry, where her subtype (Hallopeau-Siemens) was determined. They indicated in 2000 that she had lived longer with that subtype, at 65, than anyone else on record - I do not know if there are others that age now, but I pray that there are!

In spite of this devastating condition, she was happy with her lot in life. She was very compassionate, and 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. And I know that she would have been furious at the Royal College of Obstetrics and Gynaecology suggesting "active euthanasia" for EB newborns! I can't blame her a bit for feeling the way she did - she fulfilled her every dream, as humble as those dreams were.

So many healthy people waste their lives, oblivious to their own good fortune. I admit, I often have to remind myself to give thanks from time to time!

After a long battle with squamous cell carcinoma, Mom died of a particularly aggressive form of pneumonia on February 16, 2000. Antibiotics were unsuccessful in fighting the rampant pseudomonas infection. I loved my Mom so fiercely that, when she took her last breath, I could almost feel my own leave as well - my heart felt completely broken! I see things from my mother's eyes... how much she wanted things to go better for others with EB, especially the children.

So I go on, inspired by her memory and her character. She embraced everyone; she sensed the sadness and the unspeakable need in people. The burden on the entire EB community, and especially the patients, has been an incredible one. Everything I do for people with EB, I do in my Mother's memory. I know she suffers no more from the pain she lived with all her life, but I will always miss her. She was my hero!

It touches my soul so deeply when I hear of children with EB dying too young, 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. Each of us is unique in facing our own particular challenges in life. The accepted opinion about EB is that there's little hope for life beyond 30 years, but that's a poor motivational message for young people with EB. I hope our wonderful scientists can soon change those statistics.

I will be participating in the EB Relay in tribute to my Mother, and I ask you to join me! She had Recessive Dystrophic EB, Hallopeau-Siemens, and she was loved by many. It will be my distinct honor to speak about my Mother, and EB, throughout our journey. You are also strongly encouraged to speak out about EB, and tell your personal story, during this special week!