Dr Alberto Costa offers hope to people with Down syndrome

Dr Jerome Lejeune and his patients

"It would take less effort to find a cure for Down syndrome than to send a man to the moon" wrote Dr Jerome Lejeune, the geneticist who in 1959 discovered Trisomy 21 the cause of Down syndrome. But sadly, in the decades which followed, his discovery was used to create 'search-and-destroy' pre-natal diagnosis methods like amniocentesis to abort the child with Down syndrome rather than heal them. Only Dr Lejeune, who dedicated the rest of his life to finding a cure for the disorder, seemed dedicated enough to those with Down syndrom
e to use science in the service of life. Most researchers were discouraged by the 500 extra genes present in Trisomy 21 and considered the ‘problem’ of Down syndrome solved. If expectant parents chose to give life to their child, after a diagnosis of Down syndrome there were few medical remedies offered.

Recently, there have been scientific advances which offer hope to those of us who love a child with Down syndrome. According to the article; "A Father’s Search for a drug for Down Syndrome" in this Sunday's New York Times Magazine.

 "This was a disorder for which it was believed there was no hope, no treatment, and people thought, Why waste your time?" says Craig C. Garner, a professor of psychiatry and behavioral sciences and co-director of the Center for Research and Treatment of Down Syndrome at Stanford University. "The last 10 years have seen a revolution in neuroscience, so that we now realize that the brain is amazingly plastic, very flexible, and systems can be repaired."

In her lab in Bar Harbor Maine during the 1980’s, Dr Margot Davisson, developed a mouse with enough genetic similarities to Down syndrome to make research possible.  When his daughter Tyche (pronounced “Tishy”), was born with the disorder sixteen years ago, Dr Alberto Costa, a neurosurgeon, convinced Dr Davisson to make this mouse available. Since then, Dr Costa and others have changed the landscape of Down syndrome research by experiments testing the effectiveness of drugs like Prozac used for depression and memantine, used for Alzheimers to vastly improve the functioning of neurons in the brain of mice with Trisomy 21. Peggy Hinkle, the mother of Christina, age 26, one of the young adults in the clinical trials of memantine by Dr Costa describes how her daughter was affected by the drug;

“When Christina was on the pills, she told me one morning about a dream she had. She gave me five full, complete sentences. Which is a very big deal. Not only that, she left the room and came back later and told me another sentence about the dream. And she started to do Jumble word puzzles in the newspaper. I don't know if she was on the drug or on placebo, but after five weeks there was a change. Boom. That's why we participated: to expand her horizons."

Many parents of children with Down syndrome are reluctant to use such drugs, saying they love their children as they are, and do not wish to change them. They fear that with an increase in intelligence, may come an unwelcome change in personality. I understand their fears, but do not share them.

Christina Velasquez

I have a nine year old daughter Christina with Down syndrome, whom I love as the unique person she is. As a mother who is also a teacher, I am constantly working to improve the minds of my three children: I leave educational games around the house, monitor the media, and encourage reading. Christina loves books and has learned to write several sentences. What she has not learned, despite years of speech therapy, however, is to speak a complete sentence. She uses her 50 word vocabulary sparingly and though she understands most of what we say to her, she cannot answer us in sentences, just isolated words, and this is extremely frustrating for her and us. The other day, she was playing in front of our home and a schoolmate came by to say hello. Though she was clearly pleased by the attention, Christina was unable to participate in a conversation, and tried to involve him in an activity, pitching stones at the wall in our yard. The boy misunderstood her intent, and was driven away, thinking that the stones were aimed at him. My daughter was frustrated by her failed attempt to engage a friend in interaction, and my heart broke for her.

If there were a drug which could help her brain function, unlocking her ability to speak, as it did with 26 year old Christina, and turn such a misunderstanding around, I would be as thrilled as my daughter! She would be able to express her warm, sociable personality more fully, more successfully with her peers. We understand her in our family, but someday we may not be here for her, and it is my heart’s desire she be appreciated by those she meets for the vivacious young lady she is. That is what today’s new cognitive research promises. Not to change our children, but to help them achieve their potential, just as we do when we have them undergo surgery or speech therapy.  

Another point to consider is pre-natal diagnosis. One of the first disorders to be diagnosable in the womb, Down syndrome was used as the hard case which swayed public approval to accept some abortions, opening the door for the legalization of abortion in the 1960's.Using pre-natal testing and abortion for Down syndrome lowered the abortion rate for 'normal' babies, since, at that time, abortions were done simply because of the higher probability of a woman over 35 to bear a baby with Down syndrome.  Saving the lives of 'normal' babies was seen as sufficient reason to abort those who weren't. To understand why life with Down syndrome was considered more of a curse than a blessing, this, we must consider the fate of individuals with Down syndrome at that time.

 In the sixties, doctors convinced parents of newborns with Down syndrome to institutionalize them 'for their own good' and often death certificates were issued to the family so that they could forget they even had a child. Such institutions were poorly run, overcrowded warehouses for the disabled and mentally ill, and exposes such as Gerardo Rivera's famous documentary "Willowbrook:The Last Great Disgrace" in New York City helped to shut them down and usher in the era of home based care, with a variety of educational opportunities for these children to develop their potential from birth. Today individuals with Down syndrome are completing high school, going to college, holding down jobs, acting on TV, getting married; things which were never considered possible a mere twenty years ago.

Yet, the cruel irony is that new, non-invasive pre-natal testing may eclipse these lifestyle gains, as well as the enormous potential of research advances. They may make this the last generation of babies born with Down syndrome. Since most babies with Down syndrome are born to younger mothers, once they are offered the new non-invasive blood test early in pregnancy, they may extend the 90% abortion rate to all babies with Down syndrome, virtually wiping out the next generation of babies with Down syndrome.

Fewer births mean less investment in promising research to treat Down syndrome.

There has never been a better time in history to be born with Down syndrome. Education and blossoming research promise such individuals long, fulfilling lives, if only we can spread this good news to women who will soon face with earlier pre-natal diagnosis I time to give them hope for their children's future.