I am the proudest mother in the auditorium. I sit among many other proud mothers, fathers and guests. It is my daughter's first ballet recital. I watch my daughter dance onto the 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. It has become therapy for her spirit as well. I sit in the front near the stage and I think back, back through the years of her life...
Her story began in the wee morning hours of February 19th, 1974. She entered the world following a full-term, unremarkable pregnancy. Lisa was a healthy infant weighing in at a chubby eight pounds eleven ounces. She appeared normal in all ways. Lisa was my second child. Her sister was four at the time of Lisa's birth. During infancy, Lisa had a minor incident of swallowing difficulty that quickly subsided. For awhile, everything seemed sunny and bright in our lives. Soon, however, I began to notice that Lisa could not hold her head up as well as other babies her age. She seemed almost like a rag doll. Her developmental milestones were becoming delayed. Lisa finally rolled over on her own at eight months. Soon, she was nine months old and could not sit up. I began to worry. When I brought my concerns to our pediatrician, he said that I should not compare my two daughters. So, I waited.
However, I truly believe that mothers know when something is amiss with their child. Lisa finally sat on her own, but leaned uncomfortably forward. Her arms and. especially, her wrists were noticeably thin and weak. Around her first birthday, we focused on crawling. Her sister tried demonstrating how to crawl. We had no luck. Lisa's arms could not support her weight. Now, I was past worried. Back we went to the pediatrician and he still insisted that we should wait and see. At this time, the doctor mentioned "hypotonia", a word I 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 were rolling around. So, the first specialist on our long journey would be the eye doctor. Lisa has gone to the same ophthalmologist for 26 years. He became a great friend and supporter. Lisa's eye muscles were also weak from hypotonia.
To this day, she can only focus with one eye at a time. We celebrated 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. Urged by my relentless questions of when, why and how, Lisa's pediatrician was finally ready to take action. We were on our way to St. Christopher's Hospital for Children in Philadelphia. We saw several specialists and blood tests were run. We did not get a real diagnosis at that time. They said she was developmentally delayed in fine and gross motor development and appeared hypotonic. I heard the hypotonia word again! They explained that she had weak muscle tone in "all" her muscles.
At age two, Lisa was referred to our local Easter Seal Society where she received physical therapy and began making slow, but steady progress. Easter Seal's program literally rescued us from despair. We made many more trips to St. Christopher's Hospital receiving no additional information. At one point, a doctor told me that she might never be able to read. Of course, I was determined that Lisa would prove him wrong. She became an avid reader. At age three, Lisa was tested cognitively by Easter Seal's psychologist who was on the staff of Temple University Hospital. He told us she was about six months behind the norm. He informed me that she could begin East Seal's preschool on a trial basis for six months. I wondered immediately what he meant by trial basis. Did the psychologist think she would not fit into the program? I really let my imagination run away with me and wondered what I would do if she could not attend Easter Seal's school. Lisa began school and thrived and I received much needed support from the staff and a wonderful group of parents. After one month, the school psychologist let me know how great she was doing and her placement would be permanent. Along with preschool, she received physical, occupational and speech therapy. She made great strides but never did master crawling.
It was very difficult for Lisa to speak as her facial; mouth and tongue muscles were very involved. Her tongue protruded when she was tired. I learned that she would need intensive speech therapy. We, also, noticed that her head tilted to one side and that one shoulder was held higher than the other, this due to curvature of the spine. This has left her with a chronic neck problem. Also, one toe on each foot protrudes slightly. Despite all of the obstacles in her path, Lisa remained a healthy, happy, cute little girl. I began taking her to clinics at Easter Seals to see their specialists. At one of these clinics, held while she was in preschool, we got the diagnosis of benign hypotonia. In other words, she had weak muscle tone that would not get progressively worse. She remained at Easter Seals through kindergarten. A few months before her fifth birthday, Lisa walked across her classroom floor to see Santa Claus. Everyone applauded her and I could not contain my tears of joy.
Around this time, I was divorced from Lisa's father and soon remarried a wonderful man who adopted both my daughters. With my new husband and his three daughters; Lisa, now, had a large caring family and extended family. Bob was wonderful with Lisa and fought her battles right along with me. Our next challenge was the public school system. School was a never ending battle for Lisa's rights and best interests versus the school district's lack of time, money and flexibility. My husband and I became advocates for Lisa. Our request that an extremely heavy bathroom door be modified for Lisa's use, in turn, helped many of her classmates. Many times, we felt that teachers just didn't want to go the extra half-mile for Lisa. And more times, that not, the school staff had not even taken the basic effort of reading her file.
Middle school was her most discouraging time and mine. Children at that age can be very cruel. Additionally, at the start of middle school in 7th grade, Lisa was placed in the same class with children having severe emotional and behavioral problems. Soon I discovered that this class had only one reading group which was at the first grade level. Lisa could already read way beyond that level. I told the special education administrator that this class was totally unacceptable for Lisa. Her teacher and the 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 move Lisa out of this class.
In high school, the attitude of the other students improved. However, we soon found that Special Education in high school did not include your basics such as; history, geography, English, spelling, science, math or discussion of current events. In our school district, the emphasis was put on obtaining employment after high school in the food service industry. I fought to have Lisa mainstreamed in several 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 much to her self-esteem. However, she received little or no support from the special education staff. Several teachers had discouraged our endeavor to have Lisa mainstreamed and voiced their opinion, in Lisa's presence, that she would fail. The lack of appropriate placement, lack of individualized academic goals, and a discouraging teacher attitude cost Lisa a great deal. Despite all the problems, Lisa graduated from high school with her class and attended the senior prom.
I am a firm believer in continuing education and am still purchasing educational software for Lisa to make up for the school district's lack of emphasis on basic academics. Lisa loves to read, loves history, and speaks out on issues relating to the disabled. We, determinedly, 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 ever seen with this disorder. He 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 their second birthday. However, our neurologist feels that since Lisa has continued to grow stronger that her disease will remain benign. Lisa's genetic testing was negative, however, that does not necessarily mean that this disease is not genetic.
Far from it. Some distinctive attributes of this muscle syndrome appear to be familial. Lisa has a nasal sounding voice with a high palate in her mouth and, after examination, so do I. I very much wanted to pursue the cause and the genetics of this disease. Therefore, our neurologist sent Lisa for a brain MRI. Through this, we discovered that she had a tiny 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 suggested that I should consider having a brain MRI which I did. My MRI was negative. Officially, the geneticist would neither confirm nor rule out that this disease is genetic in nature. However, he led us to believe that Benign Congenital Hypotonia is genetic. Lisa and I both support stem cell research and feel hopeful that we will soon see great progress made in treating brain and spinal cord injuries and malfunctions.
Today, Lisa is a thin young lady weighing approximately 100 pounds with a thin face. She has speech and fine motor impairments. However, she wanted to work and we did not want her sitting at home with nothing constructive to fill her time. We received help from the PA Department of Vocational Rehabilitation. They arranged for her to have a job coach to take her on interviews, help fill out applications and generally run interference with prospective 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 high point for her. Lisa has been a bridesmaid in all of her sisters' weddings and helps care for her 13 nieces and nephews. Her social life is lacking and transportation is sometimes a problem. She and I both get 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 quit or give up.
I will continue to support community, school, state and federal programs that help Lisa and others like her. Lisa and I feel that we need to demand rights for the disabled and support continuing research with the hope of making the quality of everyone's life better.
As the mother of this extraordinary prima ballerina, I have had many wonderful, life-altering experiences and met many remarkable people. It has been extraordinary! This is our story. Lisa and I hope that it will help someone else.
For More Information:
Department of Neurology
Hospital of the University of PA
3400 Spruce Street
Philadelphia, PA 19104
Easter Seal Society
230 West Monroe Street
Suite 1800
Chicago. IL
The Benign Congenital Hypotonia Site
http://www.lightlink.com/vulcan/benign
Donna Katzmar is the mother of four adult daughters and grandmother of nine. She is an activist for "special" needs children and adults.
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