Amanda’s Story of Status

The past month has been a real rollercoaster for our family with many sleepless nights and a mix of emotions from uncertainty to anxiety due to Non-Convulsive Status Epilepticus (NCSE). I want to share our recent experience in hopes that it may help you recognize NCSE in your individual with AS and empower you to advocate when NCSE is suspected. 

Many of us deal with seizures every day.  We know how tough they can be to handle and how heartbreaking it is to witness your child go through them. We constantly worry which can be overwhelming. I’ve always known Jackson could go into Non-Convulsive Status Epilepticus (NCSE), but we hadn’t experienced it ourselves until September 18th. As CEO of the Angelman Syndrome Foundation (ASF), I have extensive knowledge on how to guide other families facing NCSE, and the privilege of being able to access ASF Clinicians quickly, and yet nothing could have prepared me for going through this with Jackson.

The Reality of Non-Convulsive Status Epilepticus

Just when we thought we were getting a grip on managing Angelman syndrome, our world was turned upside down when Jackson went into status (I’ll call it “status” for simplicity.  Although there are different forms of it, I’m referring to Non-Convulsive Status Epilepticus). For those who aren’t familiar, Non-Convulsive Status Epilepticus (NCSE), NCSE is a persistent change in consciousness, behavior, autonomic function, and sensorium associated with continuous epileptiform EEG changes, but without major motor signs. Simply put, NCSE is a condition where a person’s brain activity becomes abnormal for a prolonged period. This abnormal brain activity can lead to changes in their thinking, behavior, and bodily functions, like heart rate and awareness. But unlike typical seizures where a person’s body might shake or convulse, in NCSE, there aren’t these obvious physical signs.

Now, Angelman syndrome (AS) is a genetic disorder, and about half of the people with AS can experience NCSE. When they do, it can show up as either unusual muscle movements (myoclonic) or moments when they seem lost or not fully aware (atypical absence status).

In September, my husband, Adam and I began noticing small changes in Jackson – a decreased appetite, extreme fatigue, and mood swings.  We went through the usual checklist: ear infection, constipation, acid reflux, lack of sleep, sore throat, toothache… you name it. Nothing seemed to be the cause, so we kept a close eye on him thinking it might just be growing pains.

A few weeks later, we began noticing occasional episodes of eye fluttering. At first, we weren’t overly concerned since it happened infrequently. But, when added to the fact that Jackson wasn’t acting like himself anymore, we began to suspect he may be in status. When school began calling to say he fell asleep from exhaustion, my gut told me that he was  in status. I have known many AS families who have experienced NSCE and have found amazing support from our clinics.  We reached out to Dr. Ron Thibert and our care team here in Indiana and they all agreed to start a “taper.” For those unfamiliar with this term taper, this resource available on ASF’s website was adapted from the experience at the ASF Clinic at Massachusetts General Hospital.  It is a brief document that provides critical information on outpatient management of patients with AS and NCSE treated with a tapering course of oral diazepam.  I do want to take this moment to encourage all parents to talk to their doctors in advance of what to do if you suspect status.  When it comes to seizure management and status, having a plan with your team is crucial. The hardest thing is experiencing these things and not having any sense of what to do, the standard of care for what is happening and direct communication and an understanding with your team. It is never too early to talk to them about a plan so you all can be prepared!

There were days when Jackson seemed to be improving. Just before running the Chicago marathon on October 8, we believed he was doing much better and had left it behind us; little did we know what lay ahead. The morning after the marathon, my husband and I woke up early, both feeling like something was wrong. It was 4 AM in Chicago and we couldn’t shake the unease. We rushed home and as soon as we walked in the door, it was clear that Jackson was not well. We rushed him to the ER. He hadn’t eaten or had much to drink over the weekend and was just a shadow of his usual self.

We’re fortunate to have an ASF Clinic and work closely with Dr. Thibert, who has always been a tremendous help. Sadly, the problem started when the on-call neurologist at our local ER wasn’t communicating with Dr. Thibert; they were only talking to me. I had to play the roles of Jackson’s doctor, nurse, and advocate because the on-call neuro wasn’t willing to speak with Dr. Thibert. I kept saying, “I think he’s in status or having seizures.” They gave him IV fluids and a hefty dose of Clonazepam, and sent us home, telling us not to return without consulting the neurologist.

After the strong dose of Clonazepam, we once again felt a glimmer of hope that things were improving. Jackson spent the next two days sleeping around the clock, unable to walk, play, or eat. My normally active constant motion boy laid on me for two days straight. My motherly instincts said something else was wrong, that there was more to this story. I couldn’t understand why our local team refused to coordinate Jackson’s care or communicate with AS experts to help my precious boy.

A few days later, he was still not himself and enough was enough. I took him back to the ER and  insisted on an EEG and that they talk to our AS care team – I wasn’t leaving until they did. They did the EEG and determined he was actively having seizures, confirming that he was in status. We didn’t know how long he had been in this state, but finally, they started taking us seriously. We left the hospital with a plan that involved yet another round of tapers, increased medications, and a sense of progress. Over the next few days, Jackson was mostly unconscious and far from his usual self. This added to the confusion for us not knowing if this was med related or related to status or both. He started having facial tics and tremors, and we didn’t feel that what we were doing was making a difference.

Then, one night (this was about a month from the first week we started seeing concerns), our whole family was in the kitchen eating dinner. Suddenly, Jackson stiffened up, fell over, and his eyes rolled back into his head. We sat beside him, making sure he didn’t choke on his food. This was the first time that Baden witnessed a seizure that was more obvious then the seizures he has had which usually consist of eye blinking. Baden was scared and was not sure how to respond. He started crying and asked, “God, why can’t you take this away from Jackson?” Jackson eventually came to, happy and giggly and in some ways you would have never known that he just experienced a tonic clonic seizure. Since we had established care with Dr. Thibert, we called his nurse immediately, and he came to the rescue and started a new plan in partnership with our local care team.  I would like to note here that there are many advantages to being seen at an ASF Clinic.  We also know that many people are not able to get to a clinic and that is why we have worked hard to create resources for your local care teams that can help them treat your individual with AS with the standards of care that have been created by their clinicians in the clinics. All these resources can be found below or on our website.  We also have created a network where our experts are more than willing to connect with your care teams to help consult on the care of your loved one.  

As parents, our main goal is to protect and nurture our children. We would have done anything to take away Jackson’s suffering. The sleepless nights, the anxiety, and the constant fear for our child’s life have left an indelible mark on our whole being. Baden has been deeply affected by this as well. He saw his brother in the throes of seizures and was left terrified. Explaining the situation and reassuring him has been an additional emotional roller coaster for us as parents. How we navigate these situations with Baden is so crucial, yet I feel like I am constantly doing it wrong. I am blessed by the heart he has and the compassion he feels towards his brother and his parents when we are experiencing these days. I know this will be a continued learning process for us and him, but the most important thing I have learned is to let him have the big emotions. Let him be mad, sad, or angry, and support him through those emotions. There is always something to learn in each of those moments.

Finding Strength and Support

So, why would I share this intimate part of our lives with everyone? I’m not sharing to create fear in parents who haven’t gone through this. I am sharing this because our community feels like my family. The kind of family in the midst of the darkest valley, we share our experiences to help others who might face this and protect them from the unknown. In the midst of this challenging journey, we’ve discovered the power of resilience and the importance of seeking support. Connecting with other parents who have children with Angelman syndrome has been invaluable. Sharing experiences and resources, and simply having someone to listen to us has been a lifeline during our darkest moments.

Conclusion

Here are the signs that I noticed when Jackson was in status:

• Lack of energy
• Change in mood or behavior
• Change in appetite
• Increased seizure activity
• Regression

Here is my advice from what we have experienced and from speaking with many of our Angelman syndrome specialists.  

1. An EEG is necessary.  You do have to have an EEG to confirm your child is in status. 
2. Make a plan before you need it.  I suggest to all families to talk to their neurologist about seizures, the possibility of status in AS, and create a plan.  Having a plan takes so much fear out of an already stressful experience.  Knowing you and your team are on the same page, and you have the tools to navigate this is essential. 
3. Be familiar with ASF’s resources and share them with your team.  See below for a list of helpful resources.
4. TRUST YOUR GUT! You know your child better than anyone.  If you suspect seizures or NCSE, call your neurologist.

Our journey with Angelman syndrome and NCSE has been filled with uncertainty, fear, and frustration. We’re still searching for answers, advocating for our child’s well-being, and drawing strength from the love and resilience of our family. The good news, Jackson is out of status and doing much better.

While the road ahead may remain uncertain, we are determined to face it with unwavering resolve. Jackson’s smile, his resilience, and the love that binds our family together remind us that we are not alone in this journey. By sharing our story, we hope to shed light on the challenges faced by families dealing with the neurological issues that come with Angelman syndrome and encourage greater understanding and support from the medical community.

If you or someone you know is on a similar journey, please know that you are not alone. Together, we can raise awareness, advocate for better care, and provide the love and support our children need to thrive, no matter what challenges they may face. Also know that myself and the ASF are always here to support you at any time in your peak or valley!

With all my love,

Amanda

Resources for NCSE, can be found on our website at Resources > Seizures. 

There, you will find – Outpatient Treatment of Non-convulsive Status Epilepticus in Angelman Syndrome