When a family is diagnosed with a chromosome 18 change, the next question is, of course, “What do we do? How do we treat it?” All too often, families still hear “There is no treatment. There is nothing that can be done.” How frustrating!! It leads us to wonder if this will always be the case. Will we ever get to the point where a physician says, “Ah! Yes, I’m very familiar with this condition and the recommended treatments. Here is what we need to do,”?
This is already happening for some other chromosome conditions, namely, Down syndrome. What can we learn from the study of Down syndrome? How did the Down syndrome community get to where they are today? What has made a difference in the lives of people with Down syndrome and how was that achieved?
The average life expectancy of someone with Down syndrome has dramatically improved over the last 40 years. The graph below illustrates this point by comparing the average age at death of someone with Down syndrome from 1968 to 1997. During the period of time covered by these data, no specific treatment for Down syndrome was developed. The changes in life expectancy are merely due to a change in attitude within the medical community. Physicians used to withhold treatment for people with Down syndrome. However, as parents and families advocated for their children, the medical community started applying standard medical care as warranted for specific symptoms. Their congenital heart conditions were repaired. They were screened for thyroid problems. If they developed leukemia, they were treated.
**This graph is from the Centers for Disease Control, Mortality and Morbidity Report.
Another major shift has been the change in society’s view towards people with disabilities. Over the course of the past several decades, families with a child with Down syndrome started keeping them at home with the family instead of placing them in institutions. I don’t think anyone will disagree that a family environment is superior and provides a child with better attention their specific health needs, not to mention more varied social interactions and learning opportunities. However, the graph also unfortunately shows that not all families have the same access to healthcare or receive the same respect for their concerns. Clearly, we still have some work to do to make sure that all families have access to the resources to keep their children healthy.
The lessons for us in the chromosome 18 community are two-fold. (1) We can make great progress if we advocate that our special children be treated the same as a child with normal chromosomes who presented with the same health concerns. (2) We need to continue to change society’s views on disabilities. We have come a long way from routine institutionalization, but there is still a long way to go. We need to make sure that all our children have access to all opportunities to lead a fulfilling life. From the opportunity to develop strong relationships with friends and families to the chance to follow a dream career, we need to continue to advocate for them. We could develop the “cure” but it won’t make a difference if we do not work to correct the social and ethical issues that hold our children back from having a full life.
