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Consumer Issues in Genetics Services Vol. 8: Winter, 1992 |
For eleven years I lived and loved my daughter Kari, born with Trisomy 18. I have talked with hundreds of families with children born with Trisomy 18, Trisomy 13 and other chromosomal disorders. As the parent-founder of S.O.F.T (Support Organization for Trisomy 18, 13 & Related Disorders) I have listened as parents have generously shared with me their stories and concerns. Based on my experiences, I share with you my thoughts in a simple statement: Health professionals can use parents as a valuable resource in the decision making process when caring for children born with genetic disease.
I realize this simple statement is far from simple to implement. It requires time and commitment from professionals to educate parents. Parents seek expertise and information from the professionals. Knowledge allows parents to make informed decisions and take the responsibility which follows. It is not necessary for the parent and professional to share the same personal philosophy. It is necessary, however, for the parent and professional to share the same focus - the child.
Having had contact with a variety of health professionals in numerous specialties, I have wondered why the parent/professional partnership developed in some contacts, but not in others. Personality differences were not the only factor. What was the secret then, in this "magical" working relationship called PARTNERSHIP?
The common thread is RESPECT. This respect has three aspects:
I recall a poignant moment of partnership when my daughter was hospitalized in the critical care unit with complications from chicken pox. My husband and I were informed in great detail of her specific condition and what options were available for her care. We carefully evaluated our choices, combining our medical professional's advice and our own family values. We could clearly see what our choice would be - Kari should receive every opportunity to get well. Our question to her doctor was direct, "Can you support us?" His response, we can support this decision." The next four days brought us challenges and difficult decisions, but Kari and her individual needs were always our focus. When Kari died, our sadness was overwhelming. I knew then and I know now that her death was not the result of a partnership failure. Her care was evidence of a partnership that worked.
When the question is asked, "What's the big deal about partnership?", I reply, "It Works!" When respect results in a trusting relationship between professionals and parents, the opportunity to work as partners can be taken to a unique level - to act as a resource for other parents. The invitation from the professional to a parent to participate in assisting other parents can be rewarding for everyone. Many parents long to help "make the way easier" for other parents. This invitation to support other families is not and never will be taken lightly.
I will always remember the first referral my husband and I received from our pediatrician. We were scared yet excited; and we wondered if we could live up to the expectations of our professional and the new family. Every work and action was carefully considered when the first phone call was made. That contact resulted in the creation of a network of parents and professionals now numbering over two thousand.
Parents supporting parents with the encouragement of a professional has helped model a partnership for other parents to follow. Parent support groups continually encourage respect for the professional, respect for the parent and most importantly respect for the child.
Respect, trust, partnership - it works!
On Having a Child with a Common Genetic Disorder
by Doris Husted (Parent)
Jennifer arrived in our lives in a more unusual fashion than her two brothers, and nothing has been "normal" since. Jennifer announced her arrival quickly (two weeks early), requiring paramedics to assist in the delivery. Following the birth, Jennifer and I were taken to the hospital, where we were seen in the emergency room by my doctor, the emergency room staff, and a nurse from the nursery. We were sent home. Not once was the idea mentioned to me that she might not be a typical baby.
Four months of well-baby checkups and many anxious feelings later, I confided to her physician that there was something about her that did not seem normal to me. We discussed my concerns and he examined her. No diagnosis was mentioned. He referred us to another physician that same day. No diagnosis was offered following their consultation, but a plan of action was recommended - start with a chromosome study.
The next two months were among the hardest of my life. No one told me that no mater what happened, things probably would not get easier. I received a call from the doctor asking me to come to his office to discuss the test results. I told him I just wanted to hear the news and to please go ahead and tell me over the phone. "trisomy 21 - Down syndrome or what used to be known as mongoloid." He quickly went on to tell me that she was the same little girl that I loved, that there were documented cases of gifted Down syndrome individuals and "don't you dare give up on her." Later he told me that if I had been a first time mother, he might have passed my concerns off as "new mother syndrome."
The benefits of genetic counseling were never offered to me or my family. I had no idea of the ongoing implications of having a child with Down syndrome in my family. Even now, the genetic implications of Jennifer's brothers has never been fully discussed with a geneticist or a genetic counselor. My sister decided to have amniocentesis with her second pregnancy. The results showed a normal child but a chromosome abnormality in both my sister and her son.
Now that we realize the implications, we have checked our maternal family history and recognize that our grandmother had 14 pregnancies that ended with the birth of babies that died either at birth or shortly thereafter. Several babies had congenital abnormalities such as severely abnormal hearts or other organs. Only through my own independent reading have I come to a limited understanding of the importance of genetic counseling for my two sons.
As a result of my own experience and my discussions with other families, I have come to the conclusion that families like mine - using a single private practice physician and a private hospital - fall through the cracks and do not receive the benefits of genetic counseling.
Raising a Child with a Rare Disorder
by Patricia J. Swenson (Parent)
One day I received a telephone call from the parents of a child with the same rare disorder as my daughter's (Maple Syrup Urine Disease). Their daughter was 11 years old and they had never talked to or met another family affected with this disorder. In their desperation, they summed up their feelings when they said, "We feel as though we are adrift in the middle of the ocean, all alone, and no one is looking for us and no one cares."
You do feel alone! Twenty years ago when our daughter was born, she was admitted to the Newborn Intensive Care Unit. We were exposed to a whole new world we had never experienced before. What was wrong? Will she live? What is wrong with her? All tests proved negative until near her death, and only then was her very rare disease diagnosed. The incidence is 1 in 200,000. How could it be? It must be a dream. Our pediatrician said, "Her disease has been diagnosed and I looked in my medical books to learn what I could and found only two paragraphs written on this particular rare disease."
Our world turned upside-down. My way of coping with the situation was to gather as much information as possible. This basically required me to make telephone calls, write letters, read and investigate on my own. I believe this is the biggest difference between having a child with a common and a rare disorder.
Diabetes, for instance, has a 100 page monthly magazine, seminars, newsletters, support groups, professionals specializing in diabetes, research, clinics, finances and many other support systems in place. With a rare disease you feel all alone and long for someone to come along side and help you to learn and understand how to be the best possible parent and deal with all of the unknowns. A support group or parent-to-parent contact can help.
The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Regional Genetic Services Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131
Parent Support Organizations for Genetic Disorders
Parents Perspectives
Barriers to Effective Genetics Services
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