Every year on March 26, people and organizations around the world band together in solidarity for Purple Day. They wear purple and host events to raise awareness about epilepsy, with the goal of ending its stigma. For Purple Day this year, we got together experts from the Mount Sinai Health System to explain what epilepsy is and answer other top questions people might have.

Is epilepsy contagious?
“You cannot spread epilepsy from one person to the other,” says pediatric neurologist Natasha Acosta Diaz, MD, Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai.

Epilepsy is not an infection. It is a neurological condition characterized by seizures caused by abnormal brain electrical activity, says Dr. Acosta Diaz.

Is epilepsy electroencephalogram (EEG) testing painful?
In a standard EEG test, electrodes—small metal discs—are attached to the scalp with the help of a glue. The EEG test is not painful, says Anuradha Singh, MD, Director of the Epilepsy Monitoring Unit, and Professor of Neurology at Icahn Mount Sinai.

EEG tests study brain rhythms to look for any sign of irritability.  A standard EEG test records these brain rhythms for 20 minutes to an hour, says Dr. Singh. “Sometimes you get a little glue left on your scalp but it’s not painful at all,” she adds.

Can people with epilepsy have a job?
“Absolutely,” says Dr. Panov. “It’s a myth to say you cannot work if you have seizures.” Epilepsy care teams are available to help patients be a part of their community, including having and holding jobs. The Americans with Disabilities Act prohibits discrimination against people with disabilities in several areas, including employment.

While it is not mandatory that people with epilepsy disclose their condition to employers or coworkers, it is recommended that someone at the workplace is aware, says Dr. Acosta Diaz. “Just in case you have a seizure, somebody can be with you or help you,” she says.

Can people with epilepsy have children?
People with epilepsy can have happy, healthy children, says Dr. Singh. Women with epilepsy should work with their OB/GYN and epileptologist to ensure they’re on the safest drugs for the pregnancy, says Dr. Singh.

Can people with epilepsy stop taking medications when seizures stop?
The goal of any Comprehensive Epilepsy Center is to get patients seizure-free, and ultimately off the medications, says Dr. Panov: “The idea is that you will come off your meds once the seizures stop.”

It is important, however, that patients do not stop taking medications without discussing with their specialists, says Dr. Singh. A lot of factors go into the consideration of stopping medications, including EEG results and MRI scans, so that process should be done in consultation with an epileptologist.

Can people with epilepsy swallow their tongue?
“No way, there’s no way that you’re going to swallow your tongue,” says Dr. Acosta Diaz. During a seizure, the tongue can go to the side of the mouth and people can accidentally bite their tongue. To assist someone with a seizure, be calm and lay the person on the side, and definitely do not put anything in the mouth, such as a spoon, she says.

Does a ketogenic diet help people with epilepsy?
It does, in certain cases, says Dr. Singh. A ketogenic diet is a high-fat, adequate-protein, and low-carbohydrate diet. It is more often used in pediatric epilepsy, especially for children in whom medications do not work well, says Dr. Acosta Diaz.

Ketosis, a state where the body derives its sources of energy from fat rather than glucose, is known to have anticonvulsant properties. However, it’s not easy for a person to enter into ketosis. That is why an epilepsy care team involves overseeing a patient’s metabolism and nutrition as well, notes Dr. Acosta Diaz. “It’s not something you can try by yourself at home. It’s not just doing a keto diet to lose weight,” she says.

Caring for people with epilepsy is a team effort. At the Mount Sinai Epilepsy Center, staff members across all levels of care work together to provide exceptional care. Here’s the Center at a glance:

In addition to treating patients with epilepsy, the Mount Sinai Health System and Icahn Mount Sinai conduct research to push the frontiers of understanding the neurological conditions and what is possible with treatment. Here are some examples of what Mount Sinai is doing to further science in epilepsy.

In December 2023, the U.S. Food and Drug Administration announced its approval of two gene therapies for sickle cell disease—the first of their kind for the condition.

Casgevy™ (exagamglogene autotemcel), a cell-based gene therapy developed by CRISPR Therapeutics using its CRISPR/Cas9 genome editing technology, was approved for use in patients 12 years and older with recurrent vaso-occlusive crises (VOCs). Lyfgenia™ (lovotibeglogene autotemcel), also a cell-based gene therapy by bluebird bio, was similarly approved for treating patients 12 and up with a history of VOCs; it uses a lentiviral vector for genetic modifications.

How do the gene therapies avoid these issues?

With the gene therapies, the patient is essentially still going through a bone marrow transplant. The individual still receives a large amount of toxic chemotherapy to kill off existing stem cells, and receives new cells. However, the difference is that it is your own stem cells taken out and fixed. You are donating marrow to yourself, so it will always be a 100 percent match when reintroduced to your body and would not attack the host.

What are the technology differences behind the two gene therapies?

Casgevy uses CRISPR/Cas9, which is basically a protein discovered from bacteria that can cut tiny pieces out of your DNA. The therapy uses CRISPR to turn down a gene called BCL11A, which suppresses the production of fetal hemoglobin after babies are born and activates beta hemoglobin, which is affected by the sickle-cell mutation. By turning down that gene, the patient stops making adult hemoglobin and switches to making fetal hemoglobin.

Lyfgenia uses a lentivirus to create a so-called transgene. The lentivirus drops in a whole gene which contains instructions for producing functional hemoglobin. This approach produces a type of hemoglobin called HbA^T87Q, which works even better than regular adult hemoglobin and can be identified with a lab test. The differentiation is helpful in telling exactly how well the gene therapy is working by the amount of HbA^T87Q.

In a way, for both fetal hemoglobin and HbA^T87Q, they work slightly better than regular hemoglobin for adults with sickle cell disease. Both have similar or slightly better oxygen-binding affinity, and each possesses “anti-sickling” globins that limit or inhibit hemoglobin S levels, which are tied to the sickling of red blood cells.

What goes into the process of receiving these therapies?

It’s a long road. It starts with a visit at a sickle cell disease center. If the physicians have not identified any big reasons why you should not be a candidate, you’ll be referred to a gene therapy team—these doctors also work with bone marrow transplants. They will ensure any medical issues before and after the therapy are accounted for.

Administrative and finance teams will work with you to ensure these therapies are covered. These are expensive products—about $2 million or so—and each gene therapy is an individual negotiation and contract between the insurance company and drug company.

If everything is approved, you’ll make an appointment to come into the hospital for a procedure called apheresis. It’s almost like dialysis, where you’re hooked up to a machine. Your blood is pulled into the machine where stem cells are extracted over a period of about six hours. The stem cells are sent off to a manufacturing facility where the drug company does the gene therapy. This could take up to six months.

When the product is ready, you’ll check into the hospital again. You’ll be given chemotherapy to kill off all the stem cells in your body that make blood. Once all the stem cells are gone, a bag containing the gene therapy gets transfused into you, and the modified cells find their way back into the bones and start making blood that doesn’t have sickle cell disease.

Similar to a bone marrow transplant, you’ll be in the hospital for four to six weeks, because you have no immune system following the transfusion, and the product takes about a month to get into your body. This would be the biggest danger period of the whole process. But after that, you leave the hospital pretty much cured of sickle cell disease, though you might have to come back for several checkups.

What are some risks associated with the gene therapies?

Like in bone marrow transplant, the involvement of chemotherapy does carry a small risk of death. And there is a small risk of secondary cancers from the chemotherapy. It is very likely a person opting for this therapy might not be able to have children afterward unless you preserve your eggs or sperm. After the therapy, you would have to be careful for a while because your immune system is still reconstituting itself, and a simple case of influenza can make you much sicker than it normally would.

Who might be ideal for this sort of therapy?

The sickest of patients would be too frail to undergo chemotherapy, and a patient with mild disease wouldn’t find the risk-benefit attractive. It would essentially be someone with severe disease who isn’t responding well to current available drugs, but is strong enough to undertake the risk of chemotherapy to not have sickle cell disease anymore.

In adult medicine, we have moved away from paternalism, so our approach is: if you have sickle cell disease, and you understand the procedure, risks, and alternatives, and you still want to opt for the gene therapy, we will support you and do our best to help you succeed. It’s a shared decision-making process with the patient to make sure they understand what they’re getting themselves into.

In children for whom this therapy is appropriate, it’s a different approach. It’s more a medicine-based approach, where you only reach for the extreme care when you’ve exhausted all other options and you can say with relative certainty that the child would otherwise be certain to experience bad outcomes. An example would be if a child had had a stroke after maximal treatment and continued to have another stroke, then a transplant or gene therapy could be considered.

There might be many who would not opt for this, given that there are many good treatments that could help manage the condition, as well as more drugs in development. But these gene therapies open up options for a tremendous number of people. They are a cure for sickle cell disease as much as a bone marrow transplant is considered a cure. We know from bone marrow transplant patients who have lived decades after the procedure that the benefit continues to be a durable effect for the rest of their life. While we can’t predict how patients will fare decades down the road, since the first patients for these gene therapies got them in 2014, we are hopeful they will see similar durable benefit as well.