Today we spent the day just organizing medical supplies and calling the supply company about her g tube supplies. Randy put the steps on the trampoline and started the steps for the pool!
We heard from Addysons geneticist about her recent findings on her whole exome sequencing. Between the findings and her neurological symptoms they have diagnosed her with Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). This is an uncommon form of epilepsy. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.
In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers.
Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders, behavioral problems, or intellectual disability.
This week Addyson has her psychiatry appointment and Ethen has his psychology appointment. Besides that it’s a quiet week
Beaming with hope 