My story...
It was a great day! Mom and Dad had a look of relief on their faces. They were also ecstatic that I was a girl. I guess they didn’t know that until I was born. We spent the next few days in the hospital getting to know each other…that was fun! We also spent a lot of time speaking with doctors, as when I was born, some of my toes didn't fully develop. At first, this seemed very minor and nothing to worry about. However, this would be the beginning of a very long road.
It turns out I was born with a very rare syndrome called Adams-Oliver. This syndrome is a condition that is present at birth. The primary features are an abnormality in skin development called aplasia cutis congenita and malformations of the limbs. If that weren’t enough to deal with, over the next few months, I would learn that I also have a bicuspid aortic valve, agenesis of the corpus callosum, hypoplasia of the optic nerve and infantile spasms. I can’t say any of these words, but I know they are not fun. If you would like to learn more about these funny words, I’ve added a Nitty Gritty section below.
The least fun were the infantile spasms. Those caused me to have seizures every day. Thankfully, my doctors have managed to get them under control. However, because of the seizures, my development is delayed. Every day, I try really hard to catch up to where I should be, and my parent’s work tirelessly to make sure I’m getting my exercise and eating properly. It’s tough! My Mom and Dad are doing everything they can to find me the best doctors and therapists available.
Nitty Gritty
The aortic valve is a one-way valve between the heart and the aorta, which is the main artery from the heart that distributes oxygen-rich blood to the body. Normally, the aortic valve has three small flaps or leaflets that open widely and close securely to regulate blood flow, allowing blood to flow from the heart to the aorta and preventing blood from flowing back into the heart. In bicuspid aortic valve disease, the valve has only two leaflets. With this deformity, the valve doesn’t function properly.
Agenesis of the corpus callosum is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the corpus callosum, the band of white matter connecting the two hemispheres in the brain, fails to develop normally — typically during pregnancy. The development of the fibers that would otherwise form the corpus callosum become longitudinally oriented within each hemisphere and form structures called Probst bundles.
The optic nerve is a collection of more than a million nerve fibers that transmit visual signals from the eye to the brain. The optic nerve develops the first trimester of intrauterine life. Optic nerve hypoplasia is a congenital condition in which the optic nerve is underdeveloped.
An infantile spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography testing called hypsarrhythmia. The onset of infantile spasms is usually in the first year of life, typically between 4 and 8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs — some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and they often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders, can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found.