Sarah's Story

I would like to introduce you to a very special little girl. Sarah was born in 2003 and is a sweet, affectionate child who loves to play and gives hugs to anyone she meets. At the age of six months Sarah started to have seizures. By her second birthday she was having hundreds of seizures every day. Although most were brief, many would last over 30 minutes and our local EMS was called to Sarah’s house often. At one point she stopped breathing and had to be taken by helicopter to the nearest Children's hospital. She stopped speaking and began to have trouble walking without falling, a condition called ataxia. Sarah was examined by doctors all over Texas and even had to spend her 2nd birthday in the hospital. Despite seeing several very respected child neurologists, we still did not know why Sarah was having so many seizures. We tried 12 different antiepileptic medications with very little improvement.

Finally, when Sarah was 2 1/2 years old we found a doctor at Chicago Children's Memorial Hospital who had the answers. Sarah was diagnosed with an intractable form of epilepsy called Severe Myoclonic Epilepsy of Infancy (SMEI), or Dravet Syndrome. Dravet syndrome is caused by a genetic mutation that alters the way the brain cells conduct electricity leading to severe seizures. There is no cure and Sarah will not outgrow her seizures. Click here to learn more about Dravet Syndrome.

In August 2005, Sarah started the ketogenic diet. This is a medically prescribed high fat/low protein and carbohydrate diet that creates a fasting-like state in the body. When the body burns fat for energy instead of carbohydrates, chemicals called ketone bodies are generated. Ketone bodies suppress seizure activity in the brain. We saw a dramatic reduction in the number of seizures Sarah experienced. After approximately two and a half years on the full ketogenic diet we were able to wean Sarah to the less restrictive Modified Atkins Diet. Sarah is able to enjoy greater control over what and how much she eats, while still maintaining ketosis. Click here to learn more about the ketogenic and modified Atkins diets.

Shortly after starting the diet, Sarah's doctor also prescribed two new antiepileptic medications were not approved by the FDA. These medications were studied in Europe by Dr. Dravet after whom the syndrome is named. Sarah currently experiences 20 to 25 seizures per month but they are brief, lasting one minute or less and EMS has not had to come to our house in several years. With improved seizure control, Sarah has been able to gradually learn and develop new skills and was able to start school in the fall of 2009. Her underlying genetic disorder and frequent seizures make learning difficult. Sarah currently spends most of her school day with the special education team where, despite these obstacles, she is learning basic math and is even starting to read.

Despite everything we have done, Sarah could still have a seizure at any time of the day or night and must be under direct supervision at all times. This makes it very hard for Sarah and her family to do many of the things others take for granted. As her parent, my biggest fear is that she will have an undetected, prolonged seizure while sleeping that could lead to brain damage or even death. Children with Dravet syndrome have an increased risk of Sudden Unexplained Death of Epilepsy (SUDEP) compared with other epilepsy syndromes. Click here to learn more about SUDEP.