A Day at a Time: Our Journey with Rare Disease and Relentless Seizures

An introduction, by Laura Will.

When I stumbled upon Carolyn’s Facebook page about her journey caring for her son Alvin, it felt like the distance between Kenya and my home office on the East Coast of America collapsed. Her struggles and worries, the fumbling and uncertainty, the exhaustion and strength were so closely mirrored in my rare-mom heart, I felt I could reach out just beyond the screen in front of me, and she would be there. Her story, and the story of her son Alvin, are still evolving. The tireless work to give her son a life of dignity and health meets both new and ongoing challenges. She has recently decided to share her story more widely, and we here at Know Rare are lucky enough to highlight this rare mom as she starts to write her own narrative.

My name is Carolyn Kinya. I am an entrepreneur, and a rare mom to my son Alvin. We are from Kenya. Our family lives in Meru, a town about 365 Kilometers from the Capital City of Nairobi.

the day of Alvin’s diagnosis

I can clearly remember the day we finally received his diagnosis. It was 2019, and my son was 14 years old. We had already been treating seizures and developmental delay for years. However, I was not prepared for the actual diagnosis. It quickly thrust me into very unfamiliar territory, murky waters, and with no plan whatsoever. Besides the diagnosis, nothing warned me that my emotions were about to get out of control, and getting them under control was going to be an uphill task. I was about to spend sleepless nights replaying the drama in my mind.

First we collected the results from the lab, then we would meet with the doctor. I remember putting on a brave face while at the lab going to pick up the MRI results. I left the lab hurriedly fumbling with the envelope trying to tear it open. My eyes flew from one corner of the page to the other corner, trying to look for the diagnosis. They rested on a bolded sentence that read: ‘Polymicrogyria noted along the Sylvian fissure bilaterally.’ “What on earth is polymicrogyria?” I wondered. I honestly did not think it was a big deal till I searched online and realized what it was.

I was walking back to the doctor’s office with the results, while on my phone the whole time searching for the condition named polymicrogyria. This was the first time we had received the diagnosis for something we had been treating for the previous three years. Alvin had initially been treated for Meningitis when the seizures set in. It was so severe that they did not have time to do a lumbar puncture to determine what it was. They said they “just had to treat the presentation.” So we thought it was meningitis, that is what we were told.

There were two people ahead of me at the doctor’s, so I had some time to continue my research. By the time I went in to see the doctor, I was devastated.

The doctor went on and on about the condition. How it is something we have to learn to live with, how it can only be managed, and how it is difficult to treat. But he did not tell me how severe the condition could get. Up until this misdiagnosis of meningitis, Alvin had not experienced seizures. He had experienced delayed milestones though. He had delayed speech. Chewing food was absent. It is likely he did not even know there was food in his mouth. He feared loud noises, such as food blenders and the like. By the time seizures were full-blown, he had outgrown his fear of noises but the rest remained.

alvin’s school experience

Alvin attended school and did very well, despite the fact that he did not have his speech. Speech therapy helped a little. He developed his own way of communicating with his classmates and teachers. He was top of his class and loved school.

His routine was pretty defined when at home. He spent a few minutes watching tv, a few minutes playing with some toys, and some minutes outside playing with a water gun. He loved books and would spend lots of time writing, copying stuff from product packages, and looking at books. He would repeat these activities every day after school and on weekends.

When seizures fully kicked in, everything changed. We have never known peace again. Alvin started coming home from school with black eyes, bruised ankles, and elbows - injuries incurred by seizure activity. My heart bled for my son daily. He did not want to stay home. And we reasoned that, since he was on epilepsy medicine, it would kick in any minute. After all, the doctors said, “It is just epilepsy, right?” Wrong again! Another day, another seizure-related scar. I decided I had had enough of the scars, and decided to go back to the doctor.

Whatever medicine he was on was flat out not working. He was falling down unannounced. I was really scared for his well-being and did not know what to expect every time he went to school. I would walk him to the school bus, and it felt like I was handing him over willingly to go hurt himself. I would wonder, “What part of his body will he hurt today?” I silently prayed that he hurt some place we could treat, like his ankle or wrist. I feared for his eyes so much. I can honestly tell you I was sure he was going to have seizures.

Worse still, he was constantly bullied by some of his schoolmates who, upon realizing that he was sensitive on some parts of his body, kept hitting his head, nose, or deliberately stepping on his toes just to see that “reaction,” which was indeed a seizure. It was entertaining for them. The teachers intervened; but, even without the bullying and all, he still went on to have seizures.

For three years, we dealt with sometimes up to 30 seizures in a day.

I developed chronic anxiety from the school’s phone calls. They would call me to come pick him up. I never knew how many injuries to expect until I got to school. This was our terrifying daily routine. For three years, we dealt with sometimes up to 30 seizures in a day. At this point, school was not an option. In 2019, we just had to stop school completely.

Since then, Alvin has not been able to attend school in person. His comprehension skills are now at their lowest. The books he once loved are his worst. He gets bored with school work. He cannot think clearly.

alvin’s battle with relentless seizures

Previously, we had been seeing a neurosurgeon whose prescription medicine did very little to help stop the seizures. I do not know why I did not think of seeking a second opinion from a neurologist. I take it that I was so overwhelmed with everything. Having been misdiagnosed earlier, plus months and months of tons of medication which did nothing to heal my son, I had lost hope. I also think that the fact that no one in the medical fraternity seemed to know what to do with this condition made me feel defeated.

On January 11th, 2021, we saw a neurologist. He admitted us to the hospital for a month and changed Alvin’s medication after a series of tests, including an MRI for better clarity. The tests showed that Alvin lacked a vein that connects the left side of the brain to the right one; and showed lesions on the frontal lobe of the brain.

The neurologist prescribed medicine which helped the seizures lessen in intensity and frequency; however, they are only controlled until something else triggers them.

Here’s a list of things that trigger seizures in Alvin:

Foods: any green vegetable, all bean varieties except yellow beans, eggs, wheat, potatoes, oranges, avocadoes, bananas, and pineapples. The list of foods that he can eat gets smaller by the day. This makes me worry, because I do not know if at any point we will run out of food options;
Environment: the cold;
Physical sensations: bumps on his toes or the back of his heel, his elbow and knees, his ears, and any part of his head.

These triggers make it difficult for Alvin to live a normal life. Especially when we have to constantly ask him to look out for anything that he may bump into. I am a helicopter mum for Alvin (for a good reason!). We have to escort him everywhere to avoid him falling down with a seizure. We sleep with one ear open. We have safety-proofed the house for him, but still we get those tiny accidents which cost us a seizure. It is always painful, for him and me.

taking it one day at a time

Alvin’s life has changed a lot in the last three years, since the onset of uncontrolled seizures. He still manages to wake up every day and face the world the best way he knows how, despite the heavy medication and seizures still coming through. He enjoys his games and TV. He enjoys sunshine on a sunny day. He is the most optimistic kid I know. He believes that one day he is going to get better, resume in-person school, and get a chance to join Formula One Racing. He loves fast cars. He continuously asks me to take him to the competitions he sees on TV. He adores the racers and chooses “his car” at the beginning of each race. His Xbox 360 was the closest to racing he could get but it overheated from overuse and now does not work anymore.

It was a fourteen-year journey from birth to diagnosis. However, even with MRI results that can point to the problem, and a fancy title of “Polymicrogyria;” we are still just managing. We are managing daily uncertainties. We are managing several sedating medications. We are managing triggers, breakthrough seizures, and the injuries they cause. We are doing what we can for today, but that does not always seem enough. We pray and hope that the doctor will be able to reduce Alvin’s medication, but that is subject to a reduction of the seizures. Every day brings us new hope and challenges, hence our slogan: A day at a time.