I am the proudest mother in the auditorium. I sit among many other proud mothers, fathers and guests. It’s my daughter’s first ballet recital. I see my daughter dance on stage with determination, pride and grace. I am in awe of my daughter.
My daughter, Lisa, is 30 years old. She is a fighter. She has a congenital muscle disorder. Her ballet class began as a substitute for traditional physical therapy. She has also become a therapy for her spirit. I sit up front near the stage and think about the years of her life…
Her story began in the early hours of February 19, 1974. She came into the world after a full-term pregnancy without complications. Lisa was a healthy baby weighing a plump eight pounds and eleven ounces. She seemed normal in every way. Lisa was my second daughter. Her sister was four years old when Lisa was born. During childhood, Lisa had a minor incident of difficulty swallowing which she quickly resolved. For a time, everything seemed sunny and bright in our lives. However, I soon began to notice that Lisa couldn’t hold her head up as well as other babies her age. She looked almost like a rag doll. Her developmental milestones were falling behind. Lisa finally turned around on her own at eight months. Soon she was nine months old and couldn’t sit up. I started to worry. When I discussed my concerns with our pediatrician, she told me that she shouldn’t be comparing my two daughters. So I waited.
However, I really believe that mothers know when something is a friend to their child. Lisa finally sat up on her own, but she leaned forward uncomfortably. Her arms and hers. especially, her wrists were remarkably thin and weak. Around her first birthday, we focused on crawling. Her sister tried to demonstrate how to crawl. We were not lucky. Lisa’s arms couldn’t support her weight. Now, I wasn’t worried. On the way back we went to the pediatrician and he still insisted that we should wait and see. At that point, the doctor mentioned “hypotonia,” a word he had never heard before. Hypotonia means weak muscle tone. Hypotonia would become the enemy. Wait and see was not one of my strong points. Shortly before her first birthday, I began to notice Lisa’s eyes moving. So the first specialist on our long journey would be the ophthalmologist. Lisa has been to the same ophthalmologist for 26 years. She became a great friend and supporter. Lisa’s eye muscles were also weak from hypotonia.
To this day, you can only focus with one eye at a time. We celebrate Lisa’s first birthday and still no crawling, standing or walking. Her neck and arms seemed weak. She was alert and responsive in other areas. Panic was setting in. Prompted by my incessant questions about when, why, and how, Lisa’s pediatrician was finally ready to act. We were on our way to St. Christopher Children’s Hospital in Philadelphia. We saw several specialists and they did blood tests. We didn’t get a real diagnosis at the time. They said that she had a delay in gross and fine motor development and she appeared hypotonic. I heard the word hypotonia again! They explained that she had weak muscle tone in “all” of her muscles.
At two years old, Lisa was referred to our local Easter Seal Society where she received physical therapy and began to make slow but steady progress. The Easter Seal program literally rescued us from despair. We made many more trips to St. Christopher’s Hospital without receiving additional information. At one point, a doctor told me that she might never be able to read. Of course, he was determined that Lisa would prove him wrong. She became an avid reader. At age three, Lisa was cognitively assessed by Easter Seal’s psychologist, who was on staff at Temple University Hospital. He told us that she was about six months behind the norm. He informed me that she could start East Seal Preschool on a trial basis for six months. I immediately wondered what she meant by proof. Did the psychologist think that she would not fit in the program? I really let my imagination run wild with me and wondered what she would do if she couldn’t attend Easter Seal School. Lisa started school and thrived and received much needed support from staff and a wonderful group of parents. After a month, the school psychologist let me know how well she was doing and that her placement would be permanent. Along with preschool, she received physical, occupational and speech therapy. She made great strides but never mastered crawling.
Lisa found it very difficult to speak like her face; the muscles of her mouth and tongue were heavily involved. Her tongue stuck out when she was tired. I learned that she would need intensive speech therapy. We also noticed that her head was tilted to one side and that one shoulder was higher than the other due to the curvature of her spine. This has left her with a chronic problem with her neck. Also, one toe on each of her feet sticks out slightly. Despite all the obstacles in her way, Lisa remained a healthy, happy and beautiful child. I started taking her to Easter Seals clinics to see her specialists. At one of these clinics, conducted while she was in preschool, we received a diagnosis of benign hypotonia. In other words, she had weak muscle tone that would not get progressively worse. She stayed at Easter Seals through kindergarten. A few months before her fifth birthday, Lisa walked across the floor of her classroom to see Santa Claus. Everyone applauded her and I couldn’t hold back my tears of joy.
Around this time, I divorced Lisa’s father and was soon remarried to a wonderful man who adopted both of my daughters. With my new husband and his three daughters; Lisa now had a large loving family and an extended family. Bob was wonderful to Lisa and fought her battles alongside me. Our next challenge was the public school system. School was a never-ending battle for Lisa’s rights and best interests in the face of the school district’s lack of time, money, and flexibility. My husband and I became advocates for Lisa. Our request to have an extremely heavy bathroom door modified for Lisa’s use, in turn, helped many of her classmates. Many times, we felt that the teachers just didn’t want to go the extra mile for Lisa. And more times than not, the school staff hadn’t even made the basic effort to read her file.
High school was his most daunting time and mine. Children at that age can be very cruel. Also, beginning in middle school in the seventh grade, Lisa was placed in the same class with children who had serious emotional and behavioral problems. I soon discovered that this class had only one reading group that was at the first grade level. Lisa could already read well beyond that level. I told the special education administrator that this class was totally unacceptable for Lisa. Her teacher and her administrator disagreed with me.
This was a very stressful time for us. I believe that reading is a fundamental tool for life. If you can read, your horizons are limitless. I finally convinced the school psychologist to help me. But it took three months to get Lisa out of this class.
In high school, the attitude of the other students improved. However, we soon found out that Special Education in high school did not include the basics like; history, geography, English, spelling, science, math, or discussion of current events. In our school district, there was an emphasis on obtaining employment after high school in the food service industry. I fought for Lisa to integrate into various subjects. I felt that she should have every opportunity to reach her own potential, not the school district’s idea of her potential. She did very well in these classes which contributed a lot to her self-esteem. However, she received little or no support from special education staff. Several teachers had discouraged our effort to incorporate Lisa and expressed their opinion, in Lisa’s presence, that she would fail. The lack of a suitable placement, the lack of individualized academic goals, and the discouraging attitude of the teacher cost Lisa dearly. Despite all the problems, Lisa graduated from high school with her class and attended the prom.
I am a strong believer in continuing education and continue to purchase educational software for Lisa to compensate for the school district’s lack of emphasis on core academics. Lisa loves to read, she loves history, and she talks about issues related to the disabled. We purposefully include Lisa in family discussions of current events and political views.
In 1997, we took Lisa to the Hospital of the University of Pennsylvania for an updated exam and genetic testing. Her doctor was a neurologist/geneticist. He confirmed her diagnosis as Benign Congenital Hypotonia (BCH). She was the first adult he had seen with this disorder. She told us that doctors normally see babies born with this disorder. Usually, the disease worsens and the child’s weak heart and lung muscles collapse before her second birthday. However, our neurologist believes that since Lisa has continued to get stronger, her illness will remain benign. Lisa’s genetic tests came back negative, however, that does not necessarily mean that this disease is not genetic.
far from there Some distinctive attributes of this muscular syndrome appear to be familiar. Lisa has a nasal-sounding voice with a high palate in her mouth and, upon examination, so do I. I really wanted to investigate the cause and genetics of this disease. So our neurologist palpates Lisa for a brain MRI. Through this, we discovered that she had a small area in her cerebellum that was empty. It is the precise area of the brain that controls muscle tone and fine motor development. The neurologist suggests that she should consider having an MRI of the brain, which I did. My MRI was negative. Officially, the geneticist did not confirm or rule out that this disease is genetic in nature. However, he led us to believe that benign congenital hypotonia is genetic. Lisa and I support stem cell research and are hopeful that we will soon see great progress in treating brain and spinal cord injury and dysfunction.
Today, Lisa is a skinny young woman weighing about 100 pounds with a thin face. She has speech and fine motor impairments. However, she wanted to work and we didn’t want her sitting at home with nothing constructive to occupy her time. We get help from the Pennsylvania Department of Vocational Rehabilitation. They arranged for her to have a job coach to take her to interviews, help her fill out applications, and generally interfere with potential employers. Her job coach became our good friend.
Lisa works at Blockbuster Video part time, four days a week and loves her job. Her ballet lesson once a week is a highlight for her. Lisa has been a bridesmaid at all of her sisters’ weddings and helps care for her 13 nieces and nephews. Her social life is sparse and transportation is sometimes a problem. Both she and I felt disappointed, frustrated and even angry. So, we try to take a break from the problem and then continue our struggles again. We do not recognize giving up or giving up.
I will continue to support community, school, state, and federal programs that help Lisa and others like her. Lisa and I feel we must demand disability rights and support continued research in hopes of improving the quality of life for all.
As the mother of this extraordinary prima ballerina, I have had many wonderful, life-changing experiences and met many extraordinary people. It has been extraordinary! This is our story. Lisa and I hope it helps someone else.