Still Fighting for Our Son – by Francine Edwards

We rushed our son Joshua to the hospital on January 11, 2019, after having what we believed to be an epileptic episode. Upon arrival, Joshua experienced another seizure, this time accompanied by a violent reaction. Speaking in a toddler’s voice, he began kicking and screaming, cursing and biting. The doctors had no choice but to sedate him.

That week in the hospital was probably the most traumatic my husband Micah and I had ever experienced. He was under the care of the Diagnostic Pediatric Referral Team, dedicated to working with patients with complex diagnoses. As a result of the seizures, doctors completed a series of electroencephalography (EEG) studies, a magnetic resonance image (MRI), and a lumbar puncture. After a week of testing, he was diagnosed with autoimmune encephalitis – a condition that occurs when the body’s immune system mistakenly attacks healthy brain cells, leading to inflammation of the brain. Doctors believed this was the cause of the seizures as well as the agitation and change in his voice.

We spent the remainder of 2019 in and out of the hospital, monitoring our son’s seizure activity, medication levels, and treatment plan. We thought we were on the road to recovery and then the pandemic hit in 2020. That first year we were very guarded, as Joshua’s medication weakened his immune system. He continued his treatments and virtual doctor visits, and we kept journals and notes for any changes in his health.

After Josh returned to school in 2021, his English teacher began to email us about Joshua’s attention span and behavior in class. The doctors referred to what he was experiencing as “absence seizures” and increased his medication. On October 6, Joshua had what started as an absence seizure, but it escalated. His seizures became uncontrollable, so we rushed him to the hospital.

Joshua was transferred to the intensive care unit, as that was the only way to administer the medication he was prescribed. During the first three days, he had more than forty different blood tests. An MRI showed mild cerebral volume loss.

Joshua continued to experience speech regression, causing him to sound like a toddler. His days were filled with screaming and banging his head and he suffered from tics and convulsions. On October 12, the medical team began the first of five plasmapheresis treatments, citing a relapse of seronegative autoimmune encephalitis. The treatments did not work.

Doctors continued to prescribe different medications and repeated the EEG and MRI studies to no avail. Day in and day out, we did research and emailed researchers, with no response. We posted cries for help on social media, and contacted hospitals in the U.S. and internationally, but still had no answers.

On November 17, after a night of convulsing, we requested an additional EEG. That morning, neurologists were able to witness firsthand a series of short episodes in which Joshua would go in and out of consciousness, with no memory or knowledge of what was happening to him. He was prescribed two additional seizure medications and discharged on November 23. By December 5, he was back in the hospital.

On January 15, 2022, Joshua started experiencing Brain Inflamed Episodes, which were characterized by uncontrolled body movements, sudden contractions, clenching of the hands, eyes rolling back, voice regression, use of profanity, and repetitive speech (called echolalia). By noon, the episodes had increased and were not controlled with the use of the seizure rescue medication, and he was unresponsive longer than usual.

By that night, his symptoms had increased significantly. The medical team did rounds the next day and expressed that a discharge would be more feasible as the weekend combined with the Monday holiday would only prolong his stay with little or no resolve. We disagreed with this decision to discharge Joshua and expressed our concerns.

While the pain of not knowing what was going on with our son was tough enough, it was even more disheartening to have negative experiences with resources who were supposed to support us. From the shock and awe expressed by nurses upon seeing two parents in the room, to nurses unfamiliar with his condition – raising their voices when he was in crisis. We’ve had doctors refuse to perform tests that we agreed to pay for out of pocket. Then there was the trauma we all suffered as a result of the hospital policy that supports the use of ACE teams (hospital police in full gear), as a means of intervention when a patient is in crisis. We’ve even had social workers question how we both were able to stay at the hospital each night and who was taking care of our daughter at home.

When it came to the doctors, some were more compassionate and responsive than others, but the more we interacted, asked questions, and suggested alternative courses of action based on our own research, the more contentious things became. On one occasion, during a family meeting, one physician began to share views about adding another medication to help treat what was believed to be brain inflammation. When we expressed our concerns about using this medication on our child, we were abruptly interrupted and told how the same medication had been used on tons of patients Joshua’s age and that it would be ok.

During rounds, Joshua was constantly being described as a 12-year-old boy displaying behavioral problems. One morning, I expressed to the team my frustration with them always beginning rounds this way, and that moving forward it would be appreciated if team members would state that he was being treated for a presumed relapse of the autoimmune encephalitis and then describe some of the symptoms. This was met with tears instead of empathy or understanding.

On another occasion, we asked for peer-reviewed research that they were using to study Joshua’s case, we were told that we could just Google and find information. When we asked for members of the team to contact other hospitals with specializations in encephalitis it seemed to take weeks for anyone to follow up and report back to us. One particular day, we followed up directly with another hospital to see if anyone had reached out to provide a referral, but they had nothing in their system showing that our team from the hospital in Delaware had reached out.

While we understood and appreciated the integrated medical approach to Joshua’s healthcare, what we could have done without was the disrespect that some team members showed to one another. It was clear that one discipline-specific group of physicians had a plan of action they preferred over that of the other team of providers. Sometimes, these differences reared their ugly heads when we were in family meetings. The bickering back and forth, and not wanting to validate the works of a less scientific field of medicine was unacceptable.

When we requested to have our son’s record reviewed by specialists outside of the providing hospital to get a second opinion, there was little movement and Joshua’s health seemed to worsen. We felt that after we asked for assistance with second opinions, the support waned significantly.

We were concerned about taking Joshua to the Emergency Room when he had a crisis because the physicians were more inclined to treat him like a behavioral psychiatric patient rather than someone with a diagnosed neurological disorder. We still have to continually advocate that they reference his medical history.

By December, Joshua was on nine different medications, including the seizure rescue medication, and displayed the side effects of intermittent drooling, headaches, nausea, vomiting, loss of appetite, and an inability to sleep. We constantly questioned his regimen as a long-term solution.

His team of neurology, psychiatry, and diagnostic specialists made commitments to reach out to colleagues they knew at other hospitals or universities with Encephalitis Centers or specialized services that could possibly meet Joshua’s needs, but still, we never received any information.

Micah and I were able to get appointments with other hospitals, but after their reviews it was decided that they could not help Joshua or were not interested in his case at the time. Finally, after reaching out to the medical director with our concerns, one additional test was performed, and his care was transferred to the Children’s Hospital of Philadelphia (CHOP).

Joshua has since been diagnosed with the NEXMIF Gene Variant and Functional Neurological Disorder (FND), and Psych Neurogenic Epileptic Seizures (PNES). While those are answers, we are still faced with navigating rare diseases. The biggest blessing has been finding the University of Alabama at Birmingham Medical Study for FND/PNES. While researching late at night, I came across a research study focused on changing the culture around FND. We emailed a few members of the research team and finally got a response. Joshua was accepted into the study even though he was still having active seizures (which could have disqualified him), and we have been on a different path ever since.

One of the things so challenging about FND/PNES is the seizure activity doesn’t register on an EEG or MRI like traditional seizures, thus people tend to believe that this is purely psychological and that the symptoms often displayed amount to nothing more than behavioral issues that can be managed through behavioral therapy.

What often happens in school is that teachers think Joshua is being non-participatory, uncooperative, or disruptive in class, when in actuality he is having a medical crisis. I feel like we are constantly communicating to the team at his school about the power of language and word choice because they continually communicate to us from a behavioral perspective (often negative) with no consideration of a medical diagnosis.

We fight every day to make sure he is in a safe place to learn, that his Individualized Education Program (IEP) team is open to meeting with us as much as we see fit, and we allow him to do things that give him peace, reminding ourselves to find joy when we can. Advocating for Joshua’s IEP to be modified as needed, and making sure that teachers are taking alternative approaches to help him learn, etc. has been the biggest hurdle that we have had to face as a family in the last few months.

When Joshua can stay in school all day, it’s truly a victory and we will take them as they come. This has tested our entire family, our church family, and our circle of friends, but we are surviving, and not taking our blessings for granted.

Each day brings the unknown. Sometimes we sit together and wonder what the world thinks about us. Once in a while, when we can post a picture of our bright boy, we do, but that is not telling the real story. Since we know that social media lives in perpetuity, we will never post a video of Joshua. Besides, they are too heartbreaking to watch.

Our 17-year-old daughter Tyler has been so resilient. Her daily allowance of hugs has been a huge source of motivation and comfort for us all, while she manages to maintain her own sense of self and space through this experience. She has not been afraid to continue to live her life as a teenager and she expresses when she needs her parents. Her actions remind us that life does go on and that what Joshua needs now, more than ever, is a sense of normalcy.

The sights and sounds of sibling rivalry and catfighting between the two of them are priceless. Their TikTok videos and shared gaming time, accompanied by laughter, makes some of the pain from these previous years go away. We are grateful for her spirit, honesty, pep talks, and prayers. We will continue to look at each day as a new opportunity to do life.

For the last three years, there have been moments where we feel like we’re in a fiery abyss, and other moments when we can feel angels guiding our feet, our hands, our hearts, and our souls. I can’t even put into words how difficult it has been going in and out of the hospital, with more answers but no real cure, and only the fear of not knowing if Joshua will wake up and have a normal day or one filled with episodes and challenges.

We have been angry at God, the doctors, the world, and ourselves. I fight myself when I start thinking about it because the future is so uncertain right now. Sometimes I imagine him walking across the stage during his high school graduation with his middle school years being this vague memory, absent of the sickness and pain. Sometimes I think about high school, and I’m terrified.

While the healing has not yet been what we want for Joshua’s brain, we have found the blessing in our children growing in their faith and the strengthening of our marriage. When we think that we can’t go on, God shows us that we can. We continue to build Joshua’s future by taking one day at a time.

Encouragement for Moms:

The spiritual lesson in Joshua’s story comes from Priscilla Shirer’s Bible Study Faith and Fire: Elijah. It encourages us to remember the breath filling your lungs right now is an indicator that God considers you a necessary part of his plan for you on Earth. Although you may not understand, feel discouraged, or feel useless, or like God is taking you down a path you weren’t anticipating, know that He still has a divine plan for you and He’s making sure there are others filled with faith willing to run this race with you.

I am a work in progress. I take a lot of the day-to-day struggles to God and God alone because there are times when I feel like I’m on an island. While there are moms in my circle who have children with special needs, all of our children are unique. Along our journey, it has been a mom, and in some instances a dad who is the primary caregiver, who has shared information with us, motivated us, or pulled me out of a slump with an instant message, text, or phone call.

I want you to know that what you are doing for your child(ren) has far-reaching implications. Your advocacy, love, and compassion are designed by God to have a ripple effect on the community at large. I am keenly aware of the fact that if I am not obedient to God’s word that I disrupt the path and flow of His compassion for our situation. In your darkest moments, I pray that you also have the fortitude to have that obedience to God as you navigate your own circumstances.

Prayer for Moms:

Lord, bring healing to any child who is not well. Stand by and comfort the caregiver through this trying time and keep us mindful of Your loving Presence.

In Jesus’ name, Amen.

For more information about Functional Neurological Disorder and Psychogenic Nonepileptic Seizure Disorder visit:

https://tinyurl.com/FND-PNES