Down Syndrome: Will a method of treatment be found?

Jerome Lejeune is a Frenchman who half a century ago discovered an error in the chromosomes responsible for the onset of Down syndrome. Lezhen, who died in 1994, was a devout Catholic, and he was shocked when he realized that his discovery would lead to prenatal tests and subsequent abortions. From his point of view, it was the elimination of patients, not their treatment. He was sure that someday the medicine would be discovered. He wrote: "We will overcome this disease. It is unacceptable that we do not. It will require much less intellectual effort than sending a person to the moon. "

Prenatal testing

Diane Bianchi, one of the most famous neonatal geneticists in America, has kept the letter from Lejen, who now hangs in the frame in her office. She is known and revered for participating in the introduction of non-invasive prenatal testing, and also for documenting in detail all the advantages and disadvantages of this test. The blood tests that she examined are an improved method for determining errors in chromosomes, such as Down's syndrome, the most common genetic congenital defect that leads to intellectual disability. Since these tests began to be used in 2011, over two million have been carried out.

Difficult choice

These tests are extremely accurate and can identify Down's syndrome in the fetus as early as the first trimester. However, the medical possibilities for obtaining a positive result in the testing process are still very limited, as it was in the days of Lejen. Either the mother interrupts the pregnancy, or gives birth to a child who will have a different degree of disability. From sixty to seventy percent of women who have early diagnosis indicates that their child has Down's syndrome, they choose an abortion.

Unreasonable criticism

That's why Bianchi's big role in the rapid spread of non-invasive testing has also made her target for criticism from many people, particularly those who are sick with Down's syndrome, and their parents who claim they are happy with what they are. For those who criticize Bianchi on the Web and place threats on the page of her hospital in Facebook, the only goal of research seems to be a decrease in people with Down's syndrome. However, for those who listen attentively, ponder over the details, a completely different picture opens up. After all, Bianchi states that early testing will allow for the first attempts at treating Down's syndrome. If it is possible to detect Down's syndrome in the fetus, tests do not later than the tenth week create the possibility of developing drugs that can influence cognitive actions already inside the uterus. "Many people who have children with Down's Syndrome think that they are as beautiful as they are," says Bianchi. "However, there are many people who, if they had the opportunity, would choose to treat their children." She also said that critics opposed to testing do not see the full picture, they do not understand that the equation has a second half as well.

Searches for a medicine

In the laboratory where Bianchi works, studies are conducted in mice that have symptoms of syndromes similar to Down syndrome in humans. Mothers of such mice receive treatment with known medicines - it is reported that in the near future their combinations can be tested, but at the moment they are tried one after another. This experiment is an attempt to increase the growth rate of neurons in young mice when they pass through an important stage in the development of the brain. The search for the right drug is still a very minor attempt, as Bianchi focuses on finding safe and confirmed medicines that could be used in the uterus. But it is also worth noting that not only Bianchi is concerned with this, but others also began to pay attention to the possibility of treating Down's syndrome. For example, a hospital in Texas is preparing to test prozac treatment of mothers whose embryos have been diagnosed with Down syndrome. A scientist in Cornell explores the effect of additives of choline, an indispensable nutrient. This summer, Bianchi held a meeting in Paris interested in seeking treatment for Down syndrome and admitted that even attempts to warm up interest in the possibility of treatment seem to be a great achievement on the way to serious results.