Developmental Disabilities Leadership Forum: Leadership Perspectives in Developmental Disability: An on-line Journal for Consumers, Professionals, Family and Friends
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Volume 2 , Issue 1 Date: Winter, 2002 Topic: Genetics:
Scientific Advances...Human Choices

Genetic Disorder and Developmental Disabilities from a Parent’s Perspective

by June Michael

My son Antoine was born with multiple birth defects. He had congenital hydrocephalus (excessive fluid in the brain) and a large occipital meningocoele (a sac extending from the brain). The excessive amount of fluid in Antoine’s head had distorted his skull. His forehead and the sides of his head were elongated, and the back of his head had a hump on it. The attending physicians at his birth told me that the café-au-lait colored spots that covered a great portion of his body were due to a genetic disorder called neurofibromatosis (NF). Two days after Antoine’s birth a ventricular peritoneal shunt was inserted into his brain. He was given three months to live. Against all odds, Antoine continued to survive. However, at the age of four a second shunt was inserted into his spine to help control the severe hydrocephalus. Within the first four years of his life, he had had eight surgeries

I put all my efforts into learning every thing I could about hydrocephalus since it was Antoine’s main health challenge. Neurofibromatosis was only mentioned in passing at the doctor’s office. The pediatricians would ask me if I knew that Antoine had a genetic disorder. They never referred him to a genetic clinic. It was quite by accident that I learned more about NF.

When Antoine reached the age of two, I consulted with a neurosurgeon to determine if reconstructive surgery could be performed to reshape his skull. The neurosurgeon advised against this type of surgery, since Antoine’s brain was shifted to one side. He felt it would be better to leave Antoine’s skull as it was, stating that it would be easier for me to monitor the fluid. The neurosurgeon felt that Antoine’s prognosis was still poor and he saw no reason to put him through surgery merely for cosmetic purposes. I left the doctor’s office feeling a little downhearted, but refused to accept his prognosis concerning Antoine’s life. I knew my son would live, and he needed the corrective surgery to live normally.

The answer to my prayer came through a mother of one of Antoine’s classmates. She invited me to a luncheon sponsored by the Craniofacial Association of the University of Virginia in Charlottesville. I was not familiar with this group and did not know what they were about, but I went to the luncheon. The guest speaker was the parent of a child who had undergone reconstructive surgery of the face. The father explained how the Association had helped his family meet the financial cost of his son’s several operations. He showed slides taken before and after the operation. The results were astounding. After several months of phone contacts and one or two consultation visits, Antoine was accepted into the program.

Being accepted into the program involved a one-year period of examinations and tests for Antoine before he was approved for surgery. Part of the process included Antoine’s father and me agreeing to genetic counseling. During the first session, the genetic counselor asked us if we planned to have any more children because that would determine the course of action he would take for the sessions. We both answered, “ indeed not.” Therefore, we did not get genetic testing. Instead, he gave us some basic information about NF and recommended that, if we changed our decision, we needed to obtain genetic counseling. I actually dismissed NF from my mind and focused on Antoine’s pending surgery.

The operation lasted fourteen hours. The goal of Antoine having a round head was met only briefly. Because of complications, he required three more surgeries within the same month, which resulted in his head being not quite round. However, his forehead was shortened, the hump was taken off the back and the sides were filled in. This surgery allowed Antoine to hold his head up, which led him to crawl, sit independently, climb, and stand up with support. At the age of twelve, he was able to walk with the support of a walker.

Once Antoine had recovered from the surgery, I was able to take the time and find out about NF. I started with my family. Neither my father nor mother had every heard of the disorder or knew of anyone in our families who fit that description. I also talked to Antoine’s paternal grandmother and great-grandmother. They were from Colombia, South America and had limited English. However, they told me that Antoine’s father’s oldest brother died of a brain disorder at the age of nineteen. They could not offer any medical details about his condition excepted that he was mentally challenged. I extended my research to the National Library of Medicine. There I found a wealth of information on NF that led me to the Neurofibromatosis, Inc, Mid-Atlantic Organization.

The NF, Inc, is a non-profit voluntary health organization that provides information about NF; makes referrals to local medical resources; assists in identifying community support services; cultivates medical, clinical, educational and sociological research, which address the need to treat, cure and prevent NF and the effects of this disorder; promotes referral participation in scientifically evaluated research; and provides funding for NF related research.

I got in touch with the Mid-Atlantic chapter that met in Maryland near my home. They sent me a package of information and invited me to join the organization, which I did. The pamphlet gave me much needed information about this disorder. I learned that at least two genetically distinct forms of NF have been identified: NF-1 or VR-NF and NF2 or bilateral acoustic NF. Antoine had NF-1.

NF-1 formerly called von Recklinghausen’s Disease or peripheral neurofibromatosis is estimated to occur in one of 4,000 births. The gene for NF-1 is on chromosome 17. Antoine had four of the main symptoms: his symptoms were present at birth; he had multiple café-au-lait colored spots on the skin; freckling in the underarm or groin area, and tumors of varying sizes under his skin. He only had two or three small tumors that did not develop until he was around ten years old.

Looking back over the years, I cannot say that Antoine’s learning disabilities were due to NF. I believe that both disorders contributed to his difficulties with cognitive and physical development. At birth, the physicians told me Antoine would be a vegetable, if he lived over three months. I found Antoine to be a gifted child in spite of all the challenges that he faced. He was frustrated due to his body unable to keep up with his mind. One only had to spend some time with him to know that he had a keen mind, a loving heart, and an incredible spirit. After a yearlong illness due to shunt failure, at the age of 16, Antoine made his transition on January 16, 2001. I found it ironic that the death certificate listed the cause of death as NF. He never had a serious problem with this disorder.

Presently, my concern is for future generations of my family. My daughter is now pregnant with her second child due this August. During her first pregnancy at the age of twenty-seven, I insisted that she inform her physician about Antoine’s medical history. I must include here that my children have different fathers. However, I was still surprised, if not a little dismayed, that the physician did not recommend genetic testing and counseling for her. Instead, for both pregnancies she was given the option of taking the alpha-fetoprotein (AFP) test at her 15th week of pregnancy that indicates if there are certain conditions or diseases. The amount of AFP in the blood of a pregnant woman can help detect if her fetus may have such problems as spina bifida, the absence of part of the brain and spinal cord (anencephaly), or Down syndrome. The level of AFP in the blood is often used along with the results from two other tests (estriol and human chorionic gonadotropin) to detect Down syndrome. This test is not conclusive. In many states, it is not a requirement by law for pregnant women to take it.

At this point, I ask myself whose responsibility is it to determine who should have genetic testing and counseling? Is it the responsibility of the medical profession to advise that testing be done or is it the responsibility of the patient to request this service? I firmly believe that both parties are responsible. If the physician is not recommending testing due to insurance stipulations then it is on the patient to pursue this course of action. I am encouraging my daughter to further pursue this with her physician. Additionally, I have decided to get genetic testing since we never discovered whether Antoine inherited NF from his father’s side of the family or from my side. I have no idea where this will lead, but it will be a quite a journey since I will have to deal with an HMO and it is seventeen years after Antoine’s birth. Nevertheless, life is a journey and I believe that my decision to pursue genetic testing will help my daughter, granddaughter, and descendants.

Photo of June and Antoine MichaelJune Michael is a metaphysical writer, consultant, and lecturer. In her first book, Path to Truth: A Spiritual Guide to Higher Consciousness, she shares some of the amazing stories of her son’s life. For several years, Ms. Michael was a member of the District of Columbia Developmental Disabilities State Planning Council. Her formal education includes a Bachelors of Science degree from Howard University and Masters of Library Science and Information from the University of Maryland. Recently retired from the District of Columbia Public Library as head of the twenty-six branches, Ms. Michael is now the publisher of a quarterly newsletter, that promotes spiritual awareness and self-transformation. Ms. Michael lives in Washington, DC, with her daughter and granddaughter. She is currently working on her second book.

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