I watched an interesting video for another class the other day, titled cracking the code of silence. In the first part of this video there was a highlight of families dealing with the discovery of their child having Tay Sachs disease. As I was watching this video, I became overwhelmed with sadness. They were so young, so much life ahead of them, yet they were offered a death sentence with this disease. So then I began to wonder how many more babies have this disease in the U.S. How many parents are merely biting time while their offspring, their children, are dying, feeling hopeless. What I remember from several genetic disease lessons is that Tay Sachs disease is a deathly genetic disease resulting from the production of too little of of an enzyme necessary for the removal of excess lipid buildup in the brain tissue. This in turn is expressed in the individual by severe brain damage, enlargement of the head, convulsions, blindness, deafness then eventual death. Tay Sachs is a homozygous recessive disease (it isn’t represented by the dominant traits), where carriers (heterozygous individuals) are not affected.

A baby who died of Tay Sachs.

By doing Additional research I discovered that each year about 16 cases of Tay Sachs are diagnosed. In the video I shared above, both the parents were carriers of the disease. This is results in: 50% chance that their child will be a carrier, but not have the disease, or 25% chance that their child will not be a carrier and not have the disease, or 25% chance that their child will have the disease. Unfortunately in their case, both his child and his twin brother’s child had the disease. I learned through the video that a baby with classic Tay-Sachs starts to develop normally in the first few months of life. Signs and symptoms of the disease usually appear by about 6 months (like the babies in the documentary), when the baby slowly stops smiling, crawling, turning over and reaching out. The father mentioned that his baby stopped laughing and that’s when he knew that it was getting worse really quickly.

Debrielle; a Chicago child who was living with Tay Sachs. Evidence that the Jewish disease, now affects other ethnic groups.

As time passes, steadily, the baby loses skills and develops other dire health problems, including: Breathing problems, hearing, intellectual disabilities (problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others. Paralysis (this is when you can’t feel or move one or more parts of your body. Seizures (his is when the whole body or parts of the body move without control). I can’t even imagine watching your baby go through that. What we knew, and come to accept about Tay Sachs, is that there is no cure for this disease, but that medicines and healthy eating can help manage them. That the only proactive action to avoid having a baby with Tay-Sachs is to get you and your partner genetically tested (such as prenatal test).

After reading this heartbreaking essay written by a mom (Emily Rapp)  whose child has Tay Sachs disease (“Notes from a Dragon Mom”) I was determined to see what more was being done to find a cure. That’s when I came upon this experimental treatment that launched from the on-going Tay-Sachs Gene Therapy (TSGT) Consortium that raised the question about the ethics of science, such as what we discussed in class. For the first time, since the late 19th century, researchers from around the world including at the University of Massachusetts Medi

Emily Rapp with her son, who had Tay Sachs, published in her 2011 Essay.

cal School, Harvard University, Cambridge University, Boston College as well as Auburn University, believed that there could be a way to alter the devastating reality that is Tay Sachs. They, along with the help of other professionals (at Massachusetts General hospital) planned to launch a new gene therapy treatment that involved up to 12 children with Tay Sachs disease. This clinical trial (study) involved the deep implantation of engineered viruses in the brain, that would turn the brain’s cells essentially into ‘micro-factories’ that could produce the crucial enzyme that is missing from those diagnosed with this disease. This was all very exciting and the line of desperate parents to sign their newly diagnosed children up was long. But here comes the problem of ethics.

1. There’s absolutely NO guarantee that this trial would lead to anything other than failure. Positive results were only shown in feline cats; they possessed the similar enzyme loss, yet when they underwent the gene infusion were able to live months longer than the cats that didn’t (from 4 months to 18 months, some living till 2 years old). But we know from other scientific experiments that what works in another species wont necessarily work in humans. Is it ethical to then get the hopes up of these families to then present no results, or worse yet, if the trial were to lead to the sudden death of these newborns?
2. Gene therapy has led to unplanned deaths in the past (around the 90s); when infusion of viruses (used as vectors -carrying cancer or etc.) caused a deadly immune reaction to a patient in 1999. The uncertainty is very high and the subjects are very young.
3. The biggest ethical question is who who is allowed to be enrolled and who will be denied? Patient enrollment is a huge challenge becasue quite often researchers are playing God (not literally so to speak, since most of these choices are based on scientific preferences and health of patients). This experiment, unlike the one we discussed in class isn’t a randomized control, double blind placebo trial. As scientist/doctors must know the patient’s specific medical history, and it’s effect, to know the gene therapy’s effects on health. In this case, researchers such as Dr. Florian Eichler of Mass. General, believed that the earlier on in the disease the patient was, the better their chances at success in the trial. Even with this said, there is still something ethically unsettling about denying a newborn baby potential treatment of an otherwise fatal disease.

We discussed in class that breakthroughs happen in only 17% of trials because humans are somewhat shockingly bad at discovery. However, science is as we know a way of escaping that lousy intuition of ours. Since we cannot predict with accuracy when harm vs. good will be done, so we need evidence-based approaches. All in all, in 2016 the trials are still underway, so all we can do is hope that this gene therapy falls in that 17% of breakthroughs.