From My Mother: Surviving and Thriving in a Family Ravaged by Genetic Disease

Editor’s note: Author Darcy Leech is an instructional technology coach in Great Bend, Kan. She has published From My Mother, a memoir on losing her mother and brother to myotonic muscular dystrophy, from which this chapter is excerpted. She lives with her husband, Daniel, and their 4-year-old son, Eli, and 5-month-old daughter, Hannah. She enjoys technology, volunteering with service groups and writing for healing. Leech participated in her first MDA Muscle Walk in April for the Wichita MDA office and had an amazing experience. She also had the opportunity to share her family's story in honor of her brother and mother. To learn more about Darcy's story, read Beyond Willpower: Caring for a Brother and Mother with MMD.

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Remembering my mother

I leaned back on a three-foot stuffed polar bear propped against the bedroom wall while reading Goodnight Moon to my son, Eli. He was sprawled belly down across his Winnie the Pooh sheets, arm curled under his chin. The soft blue fabric of the blanket my mother made curled along his back, resting just under his bony, pale shoulder.

I read “Goodnight light, and the red balloon” in gentle, soothing words to lull him to sleep. Beneath his close-cut blond hair, his brown eyes scanned for a mouse he knew hid on each page. “Goodnight Bears, Goodnight …”

“There he is!” Eli exclaimed in a nasally toddler voice. His arm shot out, and his short finger pointed to the mouse sitting atop the clothes rack on the page. A dozen baby teeth peeked from his smile, and his wide eager eyes were alert.

“That’s right, Eli. There is the mouse. Remember, it’s sleepy time.” I pursed my lips and gave a mother’s look. He snapped his jaw shut and smiled, his youthful dimples below scrunched eyes. Readjusting my shoulders and pushing farther back into the polar bear, I took a deep breath and repeated in a low, calm voice, “Goodnight Bears, Goodnight Chairs.” Eli leaned toward the edge of the bed, inches from the book.

I finished and said, “That’s the end of reading tonight,” as I flapped the book shut.

His head shot up to shout, “More books, please!” dragging “please” into a wide-mouthed grin. His smile got me.

“You want more after I read three? I have the book for you.” I grabbed If You Give a Mouse a Cookie. “This book is about a mouse who asked for more every time he was given something.” I made eye contact and paused for emphasis. “Good thing the mouse was in the care of a boy who loved him …” Eli was asleep by page 10.

Watching him sleep reminded me of myself. Smiling, I snuggled farther into the polar bear I always leaned against during reading time, the one that belonged to my mother, the one we had kept in the hospital in her final days. If Eli were like the mouse who asked for more every time he was given something, he came by it honestly. I did the same to my mother. As Eli slept, I reminisced of a time my mother read to me.

My bed, with Strawberry Shortcake sheets and a Care Bear blanket hand-sewn by my grandmother, sat under the window. Across the room on the first shelf of my bookshelf sat my collection of Golden Books. My mother, Jo Lyn Bartz, read to me every night she could. We started our night ritual brushing our teeth together. I watched her face behind mine in the mirror; she had long, flowing black hair with wavy curls, pinned back to keep the hair from her eyes. A lock of wavy hair sat in front of her small, well-formed ears. Her cheekbones were high and soft, her lips pouty. Strong dark eyebrows sat evenly and trim above blue eyes that were lighter than mine with gold flecks near the center. We had the same birth mark, a type of stork’s bite, with veins in the middle of our forehead that made the track of skin between the top of our nose to the tip of our hair line a slightly darker complexion. My mother was beautiful; fourteen years prior she competed to be Miss Otero County of 1978 as Jo Lyn Woodard.

She noticed I was staring, wrinkled her nose, and stuck out her tongue. I giggled and hunched my shoulders. I stuck my tongue out too and tilted my head in attempt to mimic her expression. At age six, I couldn’t scrunch my nose easily. I wanted to; my mother could.

She laid her hand on my shoulder and pointed to the sink, giving the mother look that said more than words. I returned my tongue to its proper place. After finishing, I ran for the bookshelf to find my favorite Golden Book, Peter Pan. Perusing the shelf, I found Ali Baba and the Forty Thieves. I pondered my options then considered Mother’s smile in the mirror. I grabbed both books, snuggled them to my chest, and bolted for the bed, trying to get under the covers before being told to take one back.

Mother walked in and eyed the two books as she sauntered to the chair by my bed. Her slender finger tucked wispy curls behind her ear. She looked at me. I smiled broadly. She reciprocated, but with tight lips. I hadn’t noticed the puffy, purple circles under her eyes until I lay in bed. She shifted her weight, grabbed the back of the chair, and sat with stooped shoulders. She sighed audibly. She still had chores.

“Okay, Darcy. I’ll read two tonight.” Her posture sunk further into the chair. “It’s been a long day, but you’ve been good.” Her melodic voice sounded drained as she gazed against the distant white wall. “We haven’t had much time together this week,” she said without making eye contact. She blinked twice in quick succession. I looked eagerly at her hands around the books. Her nail polish was chipped. Her chest heaved, and she purposefully smiled. With that composed countenance, she turned to face me.

“Let’s read.”

I soaked in my mother’s presence as she read me stories I had heard before but that I heard again because she loved me, because she wanted to spend time with me, because she thought I was worth two books.

Meeting my brother, Dustin

I wanted to be like my mother; I wanted to invest in reading to my son. I leaned back into the stuffed bear. Mother’s favorite animal was a polar bear: she had Coca Cola bears, polar bears on carousels, and a basketful of stuffed polar bears from garage sales. She kept this oversized plush bear, her ‘Eli bear,’ named after my son, on a guest bed to cuddle. The polar bear was the now in the perfect reading spot next to my son’s toddler bed. I’d always valued my mother reading to me, but as a fatigued mother myself, I grasped the magnitude of her exhaustion. That night as a child, I would have had a simple day: school, play, dinner, bed. My mother’s day would have been challenging, and she had more to do after story time. Each night she would have gone to bed drained, only to wake up to an oxygen monitor beep two or three times a night. She had more than me to care for; she also had my brother.

Four days before my third birthday, Dustin came into the world. Mom never talked about the week Dustin was born, the emotional syphon of not being near me and unable to hold her infant, or the complications of delivering a boy who would have open heart surgery, a feeding tube, and a ventilator. She didn’t have me, her first, until she was twenty-five. Dad shared after I had my first child that Mom had suffered through multiple miscarriages. I was at least the third time my mother had carried a child. In grade school, I would have been told and repeated a banal stock phrase like “My brother was born with congenital myotonic dystrophy, a severe form of muscular dystrophy, the disease Jerry Lewis collects money for on TV. Dustin had to have open heart surgery after birth and spent most of his first three years of life in the hospital.” I did not comprehend the complications affecting Mom when I would beg for extra books.

Mom went to the hospital to deliver Dustin three weeks early and underwent an emergency C-Section. Dad heard the doctor say “That is a lot of liquid” as amniotic fluid poured from the incision. The doctor’s voice was quick, direct, efficient – not a casual remark. The doctor pulled the baby from the womb, laid him down on the medical tray, and cut his umbilical cord. He was placed in the arms of his father. The baby didn’t cry; he barely stirred. Two minutes later, the bluish baby boy was taken from his father without his mother being cognizant enough to notice.

My brother failed to thrive and was taken, attached to life support, on a two hour helicopter flight from Blythville Air Force Base in Arkansas to Tennessee. Seven weeks later, Dustin would be again transported by helicopter to Wilford Hall Ambulatory Surgical Center, a U.S. Air Force medical treatment facility in San Antonio, Texas. Something had gone wrong, something invisible until Dustin’s skin turned blue, something genetic - congenital. Mom met Dustin in Texas three days later. Her first conscious sight of her son, he was asleep behind thick glass in an isolation incubator with a four-inch intravenous needle protruding from his skull.

My father, Randy Bartz, was an Air Force Civil Engineer and returned to work after Dustin’s birth. Mom lived in Wilford Hall, sleeping in a parent room affiliated with the neonatal intensive care unit near Dustin. Dad kept me in Arkansas. The Air Force worked diligently to change Dad’s assignment so we could live as a family near Wilford Hall. I went to meet my brother in a moving truck packed with all our belongings.

I met Dustin when he was three months old. Dad had prepared me with multiple conversations about Dustin’s health and why Mom hadn’t been home lately. In all my memory, I’ve known Dustin would die before me; I was told that before I met him.

At the hospital, Dad and I were escorted to a changing room. The nurse pointed to a small blue scrub I’d wear to meet my brother. The front had a black Wilford Hall logo, a snake wrapped around a staff surrounded by lightning. Dad, with a military trained six foot frame and hairy arms, tenderly gathered my hair in a ponytail bun. The nurse made sure no hair protruded from under my hair net.

“Darcy, you need a mask. Our germs might harm Dustin.” Dad spoke with massive hands on my quivering shoulders. The nurse slid the mask over my nose and ensured a snug fit. Dad had tried to prepare me for this moment during our ten-hour road trip, but with the unfamiliar cloth restricting my breathing, the snake crest upon my chest – I was terrified. That changing room is vivid in my memory because that is when Dad’s conversations about “birth complications” and “disease” became tangible to a preschool girl.

Somehow though, my memories of meeting Dustin are clouded in positive comfort. I’ve kept a picture of the day I met Dustin:

In the picture’s center, I sit on Dad’s lap. The mask covers my mouth, but my squinted eyes are smiling. The neckline of my too-large blue scrub dips below my sternum, revealing the pink and white stripes of my shirt. The hair net is almost as wide as my shoulders. Dad is dressed in a striped button up shirt with a crisp collar. His yellow disposable smock is too small. His dark brown mustache is freshly trimmed and his hair cut to military regulations. Years of physical training have made his long neck broad and sturdy. Standard thick-rimmed military glasses sit on his nose as he looks towards Dustin’s hospital bed. He is whispering in my ear. Dad’s bulbous knuckles rest on my legs, and even with a snake logo over my heart, I look happy.

Dustin’s head dominates his body; his lax, droopy muscles seem to occupy space like baggy clothes on a thin frame. To build lung strength, Dustin received steroid injections. The weight gain clumped in his cheeks. Dustin’s high, wide forehead separates deep set brown eyes from his brow, shaved for the recently removed large IV protruding from his head while in the incubator.

An oxygen tube envelopes his face, the tight fit pushing his nose. Dustin’s open mouth has a triangular shape as his tongue protrudes slightly, a sign of orofacial dysfunction common in children with myotonic muscular dystrophy.

Atop the rail guard of Dustin’s hospital crib, my brother grips my hand with his pale fingers never exposed to the sun. Dad’s other hand is behind me, stroking his infant son’s head.

In the picture we look happy. We made the best of it. Mother took the picture. She isn’t in many pictures or memoires from that era.

While Dad worked, Mom tried to be Dustin’s reason to live. She was constantly near Dustin, knew every medical procedure, communicated with staff, sang to him, held his hand, and caressed his face. She was ripped from her home and lived from a suitcase, sleeping in a hospital guest bed. Separated from her husband, without her daughter, rarely seeing her mother or any friends, she relinquished all former social connections, hoping Dustin would live to make his own choices, experience life, live and breathe in a real bedroom, play outdoors, and run to hug her like I could. Jo Lyn did not work while Dustin was in the hospital, go to parties, or sleep next to her husband in their bedroom. She was bound to her son’s progress, devoted to giving him a chance at survival.

Dustin came home, but he would make thirteen more ambulance trips and three more helicopter flights to a hospital in the first three years of his life. In addition to open heart surgery shortly after birth, Dustin had an apnea monitor, oxygen machine, and feeding tube. He spent twice the nights in the hospital as he did at home. Dustin was four when his feeding tube was removed and he began eating baby food.

Learning about myotonic muscular dystrophy

Most people who experience myotonic muscular dystrophy have symptoms that aren’t noticeable until after age thirty – like one man, a retired large company executive who didn’t learn he had myotonic muscular dystrophy (MMD) until late middle age. He had been active in sports throughout high school and had a football scholarship in college. He was fifty-four when he began noticing muscle weakness in his hands. “I was trying to clean my glasses,” he recalls, “and my thumb couldn’t push the spray.” He can still enjoy sports like golfing but has a pacemaker and must monitor his activity level and energy.

Many people afflicted with MMD, like my mother, seem normal and are unaware they carry a degenerative muscle disease. One man affected by MMD lived to be seventy-six and was a successful businessman, textbook author, and world traveling travel writer for the national Quest Magazine. A 2012 Quest article by Margaret Wahl portrayed the MMD experience. For example, one woman from Texas remembered how her mother had difficulty opening jars, even when she was in her twenties. It’s something a daughter or a doctor might notice, but perhaps no one else. By age seventeen years, she too had issues with her hands “locking up” as well as other symptoms that were similar to those that ultimately led to her mother’s death at age fifty-two.

MMD often isn’t a problem until adulthood. When MMD begins during adulthood, it can progress slowly. Many with MMD can walk, talk, and live independently. However, MMD varies greatly in severity, sometimes even within the same family.

The type of MMD that begins in adolescence or isn’t recognized until adulthood can be drastically different from what affects newborns, congenital MMD. Babies with congenital MMD have severe muscle weakness, including weakness in necessary muscle functions for survival like breathing and swallowing. This muscle weakness is life-threatening, and infants with the congenital form need intensive care. While males born with the adult-onset MMD may live to face early balding and adjust to weakening neck muscles and loss of grip strength, males born with the congenital version experience a higher and more rapid severity of symptoms. Before 1989, when Dustin was born, few infants with congenital MMD survived.

An infant with congenital MMD faces a tough road in getting home from the hospital. In 2009, Susan Jane gave birth to a son with myotonic dystrophy, Lee, in a story similar to my brother’s from 1989. “About twelve minutes after he was born, he quit breathing while my husband was holding him,” she recalls. Infants like Lee and Dustin struggle to breathe and often do not have the muscle strength to swallow. Lee, like Dustin, was taken swiftly from his parents and to a neonatal intensive care unit and placed on a ventilator before being transferred a week later to a larger hospital for continued care. Even after coming home from a neonatal intensive care unit, an infant with congenital MMD will need a feeding tube and supplemental oxygen to continue the necessary life functions of eating and breathing.

Cases vary, but many children with congenital MMD who do survive the first few years will see an impressive gain in ability. In 2011, at age two, Lee was able to sleep in his own room without oxygen. My brother, Dustin, outgrew the need for nightly oxygen by age eight. Early physical, occupational, and speech therapy can help children with MMD see significant gains. At age two, Lee’s vocabulary was limited to ‘uh-oh’ and ‘yee-hah’, but he was gaining ability, and the family invested in learning sign language. Dustin learned basic sign language to express his wants, and could form repetitive sounds like ‘dadadada.’ Now in 2015, an infant with congenital MMD has not only greater chances of survival but also greater assistance in gaining ability and more shared medical knowledge and advocacy in the MMD community.

In 1989, a doctor said Dustin was “one in a million,” defying odds by surviving with a genetic intensity of MMD previously unwitnessed at the best military hospital in America. The specialist staff at Wilford Hall believed Dustin’s complications were genetic. A specialist who shook my mother’s hand and noted her difficulty in returning her hand to its usual position when he released his grip diagnosed her as also carrying MMD shortly after he diagnosed Dustin. Like the woman from Texas, her hand would lock up. I was a healthy girl born to a seemingly healthy mother, but the doctors worried I carried a latent gene that could manifest adult onset symptoms like Mom. In 1989 our family life progressed on the edge of medical knowledge.

Six years after Dustin’s birth in 1992, scientists discovered the genetic mutation causing MMD. J. David Brook, a molecular biologist and leader of the groups discovering the genetic link, cautioned “treatment is not just around the corner.” Today in 2015, there is still no known cure or long-term preventative treatment. Experimental fields of genetic therapy may hold promise. Science is moving quickly and perhaps some alive today will live to see a cure. Years after Dustin was born, as I sat next to my son’s bed, I tried to envision what motherhood was like as the transmitter of a genetic and terminal disease.

Mom’s world immutably altered with the birth of her second child, a son with special and immediate needs. Dad’s life changed too, but not as precipitously. He was contracted in the Air Force and returned to going to work daily. Everything changed for Mom. She had a tragic birth experience, her body weakened and scarred by the cesarean operation, her emotions gutted as her son was flown across state borders and she was unable to hold him or nurse. Beyond the traumatic stress of delivery and neurological aftermath of postpartum depression, she was ripped from her home, her friends, and waitressing job. Her life was asunder, altered irrevocably by a birth that brought a boy in the world to fight for his every breath and revealed a lingering and dormant genetic harbinger in her own genetic code: adult onset myotonic muscular dystrophy type one. That was just the beginning of her sacrifices.

My eyes lingered on my restful son. His cheek bones protruded like my husband’s, a healthy man from a family with no trace of MMD. Eli’s body and language abilities seemed to be developing on a pace like mine or his father’s. I daydreamed as a young girl of being the parent of a child like my brother. Growing up, I idealized my parents. Mom was a woman of strength, small in build but wise and weathered to withstand any storm, capable to make tough decisions and endure what must be endured. When she was home with me, Mom seemed the bastion of what a woman should be – caring and capable.

Dustin shifted the seismograph of my parents’ emotions range, but I didn’t comprehend the magnitude. I rarely saw Mom cry, even if I saw her red eyes after she came out from being alone in her bedroom. In imaginative play, my baby dolls were born with muscular dystrophy, but fathoming life from Mom’s perspective was beyond what play enabled. At age twenty-eight, reading to my son as my mother read to me, I began to understand. Tears fell in gratitude for Eli’s ability to use words to ask for another book, something Dustin never had.

I still have a fear of snakes and despise fabric over my nose. I resented coloring after finishing every page in the book I carted to one hundred waiting rooms in a duffle bag of broken crayons. I had trouble relating to the mother who use to dote on me and was then gone so often or near exhaustion from caring constantly for Dustin. I didn’t know how to make the pretty braids in my hair that I saw in pictures of my mother when she was my age. Surviving and thriving in a family ravaged by genetic disease wasn’t easy; it took an indomitable optimism, an indefatigable fighter’s will, and the intrinsic love of a mother. Next to Eli’s bed, I clasped my hands tightly and prayed to God for my son’s continued health.