Pressure and Progress

There is more and more pressure on expectant mothers to abort children if there is a diagnosis of Down syndrome. But neurologist William Mobley sees progress in treating the condition.

The number of abortions of children with Down syndrome is still high, but Dr. William Mobley is optimistic.

Mobley is a child neurologist. He is interested in the developing brain from both a scientific and clinical perspective, teaching, doing research, and caring for patients. His special focus is on changes in the brain with Down syndrome. He has been doing research for more than 39 years, most recently at Stanford University. In June he became chairman of the Department of Neuroscience at the University of California, San Diego.

Even though there is a great deal of pressure on expectant mothers to abort children with a diagnosis of Down syndrome, he says, “Research is teaching that the future for people with Down syndrome looks very positive.”

Mobley spoke with Legion of Christ Brother Nathan Hadsall about his life and work, as well as the pressures faced by parents.


How has your faith influenced your professional life?

A lot. It is really simple: You love God and all the things God loves. The rest of your job is just to figure out who to love next and how. I also know clearly that the focus isn’t on some imaginary goal, but on the real problems experienced by real people. In the end, this hard work is intended to help someone.


What led you to neurology, and how did you get started with this kind of research?

When planning for medical school, it was pretty clear that, for financial reasons, I would not be able to go to a top school. I heard that if one did research it was possible that the medical school would arrange to pay your tuition. This was terrific news because it meant that I might be able to attend a really fine school. There was only one problem: I had never done research. I decided to give research a try, and I fell in love with it. Our studies with a young faculty member at the University of Nebraska were on hemoglobin. It was great fun, and I am sure that my acceptance to Stanford’s medical school was in large part because of my research interests.

I remember that I wanted to continue to study hemoglobin, but I found out pretty quickly that the lab I had chosen was not much interested in this topic. I realized for the first time that one’s happiness in doing science was very much influenced by the people with whom you worked. It was really good fun to discuss projects and how to think about experiments. Because I loved research more than any one topic, I started working with NGF (nerve growth factor), a protein molecule important for the health of neurons in the brain. That was 39 years ago, and this protein and its actions still fascinate me. So I guess you could say that it was the joy of science combined with the love of doing research with other people that lead me to the project and to my career.


What is the situation with Down syndrome and abortion today?

There is a prejudice against people with Down syndrome; they are not fully accepted as people. In the past they could be ignored because their lives were short and they were often ill, but now they live longer and most of their medical problems can be treated. It is clear that these people deserve to be with us, and we need to recognize their value. That most fetuses with Down syndrome are aborted is tragic, in my view. Right now, more than 90% are aborted. I contend that the rate would decrease dramatically if those making the decision to abort would get correct information about people with Down syndrome. They really believe that it would be wrong to bring a child with Down syndrome into the world — that the burden on themselves and society would be unbearable. The opposite is true: All people are of great value, and these people, though not free of problems, can live happy lives, bring great joy to others, and change the lives of their families in very positive ways.


How does the screening process work?

There are a series of screening tests that are taken either during the first semester, second semester, or both. These define the risk of having a child with Down syndrome. For those at higher risk, amniocentesis is performed. This test is not without risk and rarely results in the abortion of the fetus. The results of these tests are discussed with the prospective parents, and a decision is then made as to whether or not the pregnancy will be continued. It should be pointed out that in the U.S. the number of screening tests is increasing and that current guidelines encourage offering the test to all pregnant women rather than just those over the age of 35 years who are at increased risk of having a child with Down syndrome.


What do the parents have to face? Is there pressure from the doctors?

The parents of a child predicted to have Down syndrome have to contend with the reality of this. They are often surprised at the diagnosis and really have very little information to allow them to make a good decision. And medical professionals, as dedicated as they may be to the care of the prospective mother, may themselves not have the best and most current information about what it is like to be a parent of a child with Down syndrome. If so, they are not in the best position to provide this information and to give advice. Some cases, hopefully quite rare, can be truly egregious. Indeed, I heard recently that a young woman got a phone call at work from her OB stating simply, “Your child has Down syndrome. When would you like to schedule the abortion?” It is essential that this kind of behavior be avoided. The prospective parents need unbiased information that is thoughtfully delivered. They need time to think about what they should do, and I think they need to speak with parents of children with Down syndrome. In my experience, if the child is allowed to live, the families that accept them soon see how wonderful they are. The family can’t imagine living without this new person. I know so many families that relate wonderful experiences and lots of joy.


Where does Down syndrome come from?

All the changes come from an extra copy of chromosome 21. It’s not a mutation — it is just that this normal chromosome is present in three instead of the normal two copies. In addition to being responsible for heart defects, almost all of which can be treated surgically, it can cause a kind of leukemia and other basic health-related issues — again, usually treated successfully. We are particularly interested in their problems in learning, memory and speech. Most people don’t know this, but everyone with Down syndrome will get Alzheimer’s by the age of 40. That is also a topic that is intensively studied in my laboratory.


What progress has been made in the last few years?

Just recently, in 2006, we pinned down a gene that appears to play a role in causing Alzheimer’s disease in people with Down syndrome. We have also studied the basis of what we believe is an important cause of the problems that children experience in learning and have narrowed down the region in which the genes that cause it appear to reside. This work is very promising. A publication that describes it was published in May. Importantly, however, we are still at an early stage in the work. There will need to be many more animal experiments before we can move our ideas to the clinical stage. Nevertheless, we think it will be possible someday to effectively treat the problems with learning and memory experienced by people with Down syndrome.


What obstacles do you have to overcome?

We have been lucky so far, but there is always the issue of finding funding and getting support for research. And there is the problem of the translation gap: turning discoveries from the laboratory into medicines. But in this regard, our obstacles are no different than those experienced by other scientists. You simply have to persevere in the good work that you can do for the very important people that you serve — in this case, people with Down syndrome.


What is a realistic goal for the next few years and the end result of all this work?

Things look very positive: In 10 years we should have an idea of possible medicines, and we would hope that clinical trials could show that they are effective within the next five years or so. If successful, the medicines would be expected to produce noticeable positive changes in the ability of people with Down syndrome to learn and perform cognitive tasks. Ideally, certain medicines might also be used to treat the symptoms of Alzheimer’s disease in these people.

I have the ultimate dream for people with Down syndrome. Many would say that is unrealistic. I would prefer to believe and hope that it can come true, although probably not during my life. It is this: The doctor walks into a room where prospective parents are waiting nervously for the results of the tests on their unborn child. He sits down and says, “I wanted to let you know that your child has Down syndrome. But, before you become alarmed or make any decisions, I wanted you to know that while in the past this diagnosis was very difficult to hear and caused lots of concerns, we are dealing now with a very different situation. Because of the medical science that has been done for the past many years, all the old ideas are out of date. We can now say with confidence that your child will be born healthy. He will go to school with normal kids. He will have to work very hard, but he will get good grades. He may, if he chooses, go to college. He will be well liked, get a job, drive a car, get married and never have to worry that he will have Alzheimer’s disease when he gets older. I just thought you should know.”


What do you need to continue your work, and what can average Catholics do?

I only need time — time, a little money and good colleagues. We’ll get there. Everyone should pray for me and my colleagues: that we might do our small part to help this dream come true. Please have tender thoughts about people with Down syndrome, and support them in all the wonderful things they bring to life. We need your hearts and souls to make a difference for these very special human beings that God loves. Speak to your representatives both locally and nationally. Argue for the rights of people with Down syndrome. Be outspoken and insist that the information given to prospective families with children with Down syndrome yet to be born will make it possible for them to make good decisions. Let’s all work together to give the world hope.

Legionary Brother Nathan Hadsall is studying philosophy in Rome.

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