Testimony prepared for:

Congress of the United States
House of Representatives
Committee on Appropriations
Subcommittee on Labor,
Health and Human Services,
Education and Related Agencies

Jannine D. Cody, Ph.D.
President
The Chromosome 18 Registry & Research Society
January 29, 1998, 2 P.M.  

Mr. Chairman and Members of the Subcommittee:

Thank you for allowing me this opportunity to come here today to share some of our concerns with you.

My name is Jannine Cody. I am the founder and President of the Chromosome 18 Registry and Research Society, a support group for families affected by chromosome 18 abnormalities. I live in San Antonio, Texas. I am accompanied by members of our Board of Directors from Chicago and Detroit as well as some of our families who live in the DC area.

We are here today to ask you to reevaluate the NIH funding priorities. Nationally, in our fervor to alleviate suffering and to insure a long and healthy life, we have ignored our most needy and vulnerable citizens. We have focused our medical research efforts on prolonging the end of life without equal commitment to giving people with mental retardation and developmental disabilities a complete life. A life of dreams and promise. A life of independence instead of dependence.

Thirteen years ago, my daughter Elizabeth was born with a severe cleft palate and cleft lip and foot abnormalities. A blood test revealed that these problems were caused by a chromosome abnormality called 18q-. This is a mental retardation syndrome caused by a missing portion from the long arm of chromosome 18.

The pediatrician gave us a photocopy from a medical textbook which made the following observation about kids with 18q-. "They are probably the most severely afflicted among carriers of chromosomal abnormalities. They maintain the frog like position observed in infants and are reduced to an entirely vegetative, bedridden life."

As you can imagine this was devastating news. Especially since she seemed so bright and alert. This information was accompanied by a long list of other possible congenital deformities associated with the syndrome. There was VERY LITTLE information about functional development such as growth, motor skills and hearing. There was NO information about increased risk for later onset conditions.

For us, our most immediate concern was repair of her cleft lip and palate. To date, she has had 12 surgeries and is about at the halfway point in the repair process. However, her first 4 surgeries, all before age 3, were all complicated by her failure to heal properly. We now know that her healing problems were caused by growth hormone deficiency which also causes short stature.. The 8 surgeries she has had since being on growth hormone replacement therapy have healed perfectly. She has had to face numerous surgeries to repair the complications resulting from her early failed surgeries because no one ever asked the simple question, "Why are kids with 18q- short?".

Because of Elizabeth, growth hormone deficiency is now known to be a common feature of the 18q- syndrome. And hopefully no future child will have to endure the pain and trauma of unnecessary surgery and abnormal scarring.

It was this finding in my daughter that spurred me to find other parents and to see that research is done to determine the nature of our children's problems. I started The Chromosome 18 Registry & Research Society in an effort to bring families together who are affected by chromosome 18 abnormalities. In order to insure that the research done on these syndromes is clinically relevant and is translated into patient useful information, I earned a Ph.D. in human genetics working on the 18q- syndrome. Our goal is to find treatments and not just supportive care for our children.

Today, my husband and I are trying to understand why two bone grafts to create a continuous gum line have failed. Why the bones in her feet are grown together. What can we do about her dyslexia? In spite of these many obstacles, Elizabeth is now in a hearing impaired 7th grade and her teacher says she is a whiz at history and science. Not exactly the vegetable that was predicted.

This might be my personal story, but the stories of any of our over 700 families are as equally compelling and frustrating.

18q- is only one of many types of chromosome abnormalities. These abnormalities are a leading cause of birth defects because chromosomes play a central role in controlling the cells that make up our body. Chromosomes are the packages of hereditary material that are in every cell of the body and are passed from one generation to the next. Individuals with Down syndrome have three instead of two copies of chromosome 21. There are many other chromosome abnormalities which can involve all or only a part of any of the 23 pairs of chromosomes. Almost anything you could do to a picture of chromosomes with scissors and glue could really happen, but few are compatible with life.

The majority of people with chromosome 18 abnormalities have one of 5 different syndromes. A missing piece from the long arm of the chromosome is called 18q-,which my daughter Elizabeth has. A missing piece from the short arm is called 18p-. The chromosome can form a ring causing the loss of chromosomal material form both ends of the chromosome and is called Ring 18. Individuals can have an extra copy of chromosome 18 which is called Trisomy 18. An even more unusual rearrangement can result in an extra chromosome 18 which is composed of 2 short arms, giving the individual a total of 4 copies of the short arm. This is called Tetrasomy 18p.

These abnormalities can happen to anyone. There is no known ethnic bias. There are no know causes such as exposure to radiation or chemicals, before or during pregnancy. There is no way to protect your family. It could happen to anyone and it often does. Fifty percent of conceptions are thought to have chromosome abnormalities. However, 90% of those with abnormalities do not even implant in the uterus and become a recognized pregnancy. Of those embryos that are viable through early pregnancy the vast majority are miscarried. The abnormalities of chromosome 18 are probably some of the most common because they are more compatible with life. Babies conceived with a chromosome 18 abnormality are more likely to survive long enough to be born.

Many other parent support groups have information about the growth and development of their children. They have growth charts so that parents can see how their child is growing in comparison with other children with that same syndrome. Here is the growth chart for kids with chromosome 18 abnormalities. It is a normal growth chart. We will not settle for less than average, less than normal. If our kids are failing to grow normally, we intend to find out why and to fix it. Palliative and supportive therapy is not enough. We are determined to understand our kids problems and then to solve them, not to merely ameliorate them.

We have been extremely fortunate to have found a group of researchers who have had the vision to see that these are scientifically interesting syndromes. These syndromes are medically uncharted territory. These are syndromes that the age of molecular biology can make understandable. This is a opportunity to make a dramatic difference in the lives of many families.

One of our main organizational goals is to establish a Chromosome 18 Clinical Research Center. We thought that if we could provide money to gather preliminary data on the study of each of the syndromes, then these projects could move on to be Federally funded. We would just have to get the ball rolling. Our families have invested more than $700,000 to generate preliminary results and this has still not been enough. It has not been enough because the pot of NIH money available to study these syndromes in the mental retardation branch of the NICHD is disproportionately small. It is disproportionately small compared to the number of people affected by mental retardation and disproportionately small compared to the proportion of mental retardation caused by chromosome abnormalities.

As a nation, we have focused so intensively on adult onset conditions that we have not given adequate attention to those who have not been given the chance to grow into productive adults, to make adult choices and have adult dreams and aspirations. In 1996, 32% of the population was children and adolescents, yet only 14% of direct NIH funding was for pediatric research (1). Children's medical research needs have been unmet.

Compounded by that problem, seven and a half million Americans have mental retardation (2) representing 3% of the population (3). For FY 96, 3% of the NIH budget was 357 million , yet in that year only 86.3 million dollars were spent on mental retardation research by NICHD. One quarter of what should be spent based on population numbers alone.

However, population numbers alone should not determine the budgetary level of importance. The burden to society must be considered as well as scientific opportunity.

Individuals with development disability and mental retardation create an indisputable burden to society, not just in terms of health care but in special educational needs and in lifelong dependency. Money spent to cure these problems would be an investment in the future and potential of these individuals, and their caregivers, as well as an investment in the future of the nation as a whole.

Chromosome abnormalities represent a significant clinical and social burden. The very nature of chromosome abnormalities means that multiple body systems are affected. Individuals with chromosome abnormalities usually require many medical interventions, not to mention many supportive therapies such as physical, occupational and speech therapy. This places a burden on families that is often overwhelming. One parent may have to give up a job in order to meet the appointments of all the different medical specialists and therapists. The other parent is often locked into the same job for fear of losing health insurance. This is a recipe for stress, and 22,000 families join these ranks each and every year.

Scientific opportunity does not magically appear, it is bought. The Human Genome Project has bought us the advances necessary to begin to understand and to ultimately treat many human disease including mental retardation. Yet there is proportionately little clinical research on mental retardation or chromosome abnormalities.

Since 50% of mental retardation is caused by chromosome abnormalities and chromosome abnormalities have a defined genetic etiology they are the logical starting place for unraveling the mysteries of learning differences and mental retardation. The study of chromosome abnormalities could open many new vistas in cognitive neuroscience.

What we need is for you to realize that by studying chromosome abnormalities you would not just be helping our families, but you would be opening the door to understanding mental retardation and developmental disabilities. Chromosome abnormalities can serve as the key to understanding mental retardation and fulfilling the promise of the Human Genome Project which has provided us with the scientific opportunity.

You would be giving people back not just the end of their life but an entire life. A productive life. A life of independence instead of dependence. We have declared war on cancer so that adults might live a little longer. Now lets declare war on mental retardation so that children might have a full life.

With the promise of increased NIH funding in the air, please consider directing those funding increases in ways which will equalize research for the currently under-served populations such as those with mental retardation and chromosome abnormalities. These are areas of research which have great scientific promise, in a field in which there is currently little expenditure. These syndromes carry a significant social burden with lifelong health-care and entitlement costs.

Thank you for the opportunity to testify before you today. I would be happy to answer any questions.