Max Gross
Period 8
Lissencephaly
Lissencephaly is a genetic disorder where the brain does not have its normal ridges. Lissencephaly means “smooth brain” in Greek. In 1868, Owen was the first person to explain Lissencephaly. In 1914, Doctors Culp and Erhardt identified a condition of a smooth brain and they called this Lissencephaly.
Lissencephaly can be diagnosed by a CT scan, an MRI, or genetic testing. Symptoms of Lissencephaly include a small head, an unusual facial appearance, trouble swallowing, muscle spasms, failure to thrive, psychomotor retardation, seizures, and hands, fingers or toes can be deformed. There are at least ten forms of Lissencephaly, which are caused by chromosomal abnormalities or recessive genes. Lissencephaly occurs when there is a deletion of part of one of the arms of chromosome 17. Less than 1 in 100,000 people have Lissencephaly, with the number of males and females about the same. The life expectancy of someone with Lissencephaly varies from age two to twenty, or even longer, depending on the type of Lissencephaly. Treatment for Lissencephaly includes physical and occupational therapy, medicine to control seizures, and doctors may have to insert a feeding tube if necessary. There is no cure for Lissencephaly, but the National Institutes of Health are doing clinical trials and trying to find a cure. There is also a Lissencephaly Network, which gives advice and has stories to help families who have someone with Lissencephaly.
I spoke with Jessica and her sister Jasmine Negit, an eighteen-year old who has Lissencephaly. Their family found out that Jasmine had Lissencephaly around eleven months old. She had symptoms like a smaller head and she was smaller than normal. She had an MRI that showed a missing part of her brain, which confirmed that she had Lissencephaly. She has Type One Lissencephaly, which is the most mild. They don’t know what caused it since no relatives had this before. Jessica said, “It is kind of like a fluke,” which means it is a chromosomal abnormality. Jasmine has a fairly normal life, except for the seizures, which require medication. Side effects of the medications include mood swings and fatigue. Jasmine also has trouble with her speech. She plans to get a communication device that allows her to type what she wants to say and the device will say it. She has a weaker left side and has some trouble using that side of her body. She also can’t go to school because of the seizures, so she is home schooled and has a tutor. They originally said that she was going to have a feeding tube, a wheelchair, and she wasn’t going to see her tenth birthday. A doctor has written a few journals about Jasmine, because she has reached so many milestones. She went to occupational, and physical therapy and is going to speech therapy right now. Jasmine has ideas for a communication device that you talk into and it makes the speech clearer, so you can understand the person better. She wants to do this to help her and other children with Lissencephaly.
Lissencephaly is often random and not inherited. There is a wide range of the severity of this disorder. Jasmine has the mildest form of Lissencephaly and lives a fairly normal life, with some limitations due to her speech and frequent seizures. Medications and special communication devices help her with these symptoms.
Researchers have a long way to go in finding a cure for Lissencephaly. With 1 in 100,000 people having Lissencephaly, it may be difficult. People like Jasmine are hopeful and are dreaming their own dreams on how to make the world better a place for people with Lissencephaly and those that care about them!