Declans Angelman Syndrome Seizure Journey
Epilepsy, often severe and hard to control, is present in 85% of patients with Angelman Syndrome within the first three years of life. Onsets of seizures have been diagnosed at various ages, ranging as early as one month old to adulthood. The seizures are often times refractory to medication and treatment plans. Different seizure types can occur in each patient and can even have/display multiple seizure types.
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Declan has daily Atypical Absences, or Atonic Seizures. These types of seizures can cause sudden loss of muscle strength. These seizures are also called drop seizures, which is what we usually refer to Declan’s seizures as. With drop seizures, part or all of the body may become limp for a short period of time. The eyes may close or partially shut, and the head may nod or drop forward or backward. Majority of the time, Declan has a head drop forward, his eyes partly close, and they last anywhere from 3-15 seconds. Declan goes lifeless and very limp for a moment, and its the longest countdown in my head every single time. When he starts to get past the seven-second mark, my heart sinks and I impatiently wait for him to pop back up and let me know he's okay. As far as we know, the seizures don't hurt him nor give him any type of pain. Although, due to the type of seizures Declan has, and the more mobile he gets, the more dangerous things are getting as sometimes he drops from the sitting position and takes a nasty head bump to the floor or on whatever may be in his way at the time.
We found out Declan had seizure activity in his brain at 7 months old during a hospital admission for an EEG. At that time, Declan had not had any noticeable seizures and we weren't expecting them to find anything, but they did. We weren’t surprised when we found out because we knew the statistics of epilepsy with AS patients, especially young ones around Declan's age. The seizures didn’t start until May 2019 when Declan was 9 months old. They came quickly and haven’t left nor improved since the day they started, given our efforts to find the right medication and treatment plan for him. We are now getting Declan on the pathway to the Ketogenic Diet. Neurologists often recommend this Diet for children whose seizures have not responded to several different medicines and need better control. The diet is very serious and requires careful monitoring by a Dietitian. We plan to get Declan admitted within the first half of 2021 to start it under the supervision of his feeding team and Dietitian for the first week of transitioning onto the diet.
At our first appointment with Declan’s new Neurologist in early 2020, she went over the severity of Declan’s deletion of Angelman Syndrome. She warned us that while Declan may have only drop seizures right now, it doesn’t mean he is in the clear for having any other type of "big" seizure. She told me what to look out for and made it a point to really get serious with me for a minute and explain the degree of how bad this COULD get for Declan. She was right, and on March 4th, 2021 Declan for the first time, went into Non-Convulsive Status Epilepticus, leading to a Grand Mal Seizure and gave us the scare of our lives.
Declan was in Non-Convulsive Status for over an hour before he went into a Grand Mal Seizure. After almost two hours, the handful of rescue medications he was administered in the Emergency Department finally took affect and stopped his seizure activity and pretty much knocked him out for 24 hours. Since that admission, he has been put on a new seizure medication that is highly recommend for children with AS and shown promising results. While we have not seen any progress with his drop seizures YET, he has not had any other major seizure activity that has needed to be rescued. We are hopeful that with the help of this new medicine over time, and the new Ketogenic Diet we plan to start soon, that we can start seeing some improvement for Declan and his seizures.
A life without seizures would be monumental for Declan and our family. Things as simple as sitting down, playing with toys, and taking a bath would become so much easier and enjoyable for him.
We will continue to advocate and work along side his Neurologist, feeding team and Dietitian to get better control and find the best treatment for Declan.
Whatever it takes!
Epilepsy: A neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain.
EEG: An electroencephalogram is a test that detects electrical activity in your brain using small, metal discs (electrodes) attached to the scalp.
Ketogenic Diet: A special high-fat, low-carbohydrate diet that helps to control seizures in people with epilepsy. Doctors and Neurologist usually recommend the Ketogenic Diet for individuals whose seizures have not responded to several different seizure medicines or treatment. It requires very careful measurements of calories, fluids, and proteins.
Non-convulsive Status Epilepticus: NCSE is characterized by persistent change in mental status from baseline lasting more than 5 minutes. Associated with continuous epileptiform EEG changes, but without any major motor signs.
Grand Mal Seizures: Seizures that involve muscle contractions, muscle rigidity, and loss of consciousness. These seizures result from abnormal electrical activity in the brain. They affect the entire body, and may happen just once or multiple times.