Lily is a wonderful, bright, outgoing 4 yr old. When Lily was exactly 23 months old she had her first seizure. Other seizures followed and Lily was soon diagnosed with Epilepsy. This diagnosis lead to a MRI. The MRI was a surprise to everyone including the Dr's as Lily showed no outward signs of having any abnormalities, outside of the seizures. The MRI lead to a urine test that lead to a blood test that lead to a diagnosis of a mild form of Canavan Disease.
Canavan Disease is (* taken from the Jacob's Cure website http://www.jacobscure.com)
Canavan Disease is a rare fatal genetic neurological disorder that deteriorates the white matter (myelin) in the brain. White matter is responsible for forming a protective coating around every nerve in the brain and spinal cord to ensure that nerve impulses are properly transmitted from one part of the body to another. Without myelin, the body cannot perform normal motor skills, can become increasingly stiff or floppy and suffers a multitude of symptoms including issues with swallowing, severe scoliosis and hip dislocations.
In children afflicted with Canavan Disease, a mutation in the ASPA gene prevents the production of a critical enzyme called Apartoacyclase. Without this enzyme, an acid called NAA or N-acetylaspartate is not broken down, thereby accumulating to dangerous levels in the brain. This is thought to cause catastrophic effects to the normal formation of the white matter.
This was a very surprising diagnosis as Lily has no symptoms of Canavan Disease outside the seizures (which may actually inherited from her father's side of the family, who have a history of childhood Epilepsy, however no one can save for certain).
Lily's seizure have been very dangerous. Most are very quite and have little movement. They happen when she is sleeping and most do not stop without some kind of medical intervention, whether it be an emergency medication called Diastat or a trip to the ER for a dose of Ativan.
Due to these dangerous seizures, Lily has received a seizure alert service dog in September of 2011 from 4 Paws For Ability (http://www.4pawsforability.com.).
Please follow this blog to keep updated on Lily's ups and downs in the world of Epilepsy and Canavan. Also follow to learn of my ups and downs as I work on a non-profit organization called Fight For Lily's Future. This org will raise awareness for Canavan Disease and Epilepsy as well as raise funds for research for both.
Thank you for reading and please do not forget to follow to help fight Lily's Fight!
