Un día a la vez: Nuestro viaje con una enfermedad rara y convulsiones implacables

Jul 19

Carolyn Kinya (left), entrepreneur and rare mom, with her son Alvin (right), diagnosed with polymicrogyria (PMG). They are both smiling — Carolyn Kinya (left), entrepreneur and rare mom, with her son Alvin (right), diagnosed with polymicrogyria (PMG).

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, that 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 delays 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 that 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, and 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.

Volví a la consulta del médico con los resultados, mientras buscaba en mi teléfono todo el tiempo la enfermedad llamada polimicrogiria. Era la primera vez que recibíamos el diagnóstico de algo que habíamos estado tratando durante los tres años anteriores. Alvin había sido tratado inicialmente por una meningitis cuando aparecieron las convulsiones. Era tan grave que no tuvieron tiempo de hacerle una punción lumbar para determinar de qué se trataba. Dijeron que "sólo tenían que tratar la presentación". Así que pensamos que era meningitis, eso es lo que nos dijeron.

Había dos personas antes que yo en el médico, así que tuve algo de tiempo para seguir investigando. Cuando entré a ver al médico, estaba destrozada.

El médico no dejó de hablar de la enfermedad. Que es algo con lo que tenemos que aprender a vivir, que sólo se puede controlar y que es difícil de tratar. Pero no me dijo la gravedad de la enfermedad. Hasta este diagnóstico erróneo de meningitis, Alvin no había sufrido convulsiones. Sin embargo, había experimentado un retraso en los hitos. Tenía un retraso en el habla. No masticaba la comida. Es probable que ni siquiera supiera que tenía comida en la boca. Temía los ruidos fuertes, como los de las batidoras de alimentos y similares. En el momento en que las convulsiones se hicieron realidad, había superado el miedo a los ruidos, pero el resto permaneció.

Alvin’s school experience

Alvin iba a la escuela y le iba muy bien, a pesar de que no tenía el habla. La logopedia le ayudó un poco. Desarrolló su propia forma de comunicarse con sus compañeros y profesores. Era el mejor de su clase y le encantaba la escuela.

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.

Cuando las convulsiones entraron de lleno, todo cambió. No hemos vuelto a conocer la paz. Alvin empezó a llegar a casa del colegio con los ojos morados, los tobillos y los codos magullados, lesiones provocadas por las convulsiones. Mi corazón sangraba por mi hijo a diario. No quería quedarse en casa. Y pensamos que, como estaba tomando medicamentos para la epilepsia, éstos harían efecto en cualquier momento. Después de todo, los médicos decían: "Es sólo epilepsia, ¿no?". ¡Otra vez nos equivocamos! Otro día, otra cicatriz relacionada con un ataque. Decidí que ya estaba harta de las cicatrices, y decidí volver al médico.

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, and 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.

Durante tres años, nos enfrentamos a veces a hasta 30 convulsiones en un día.

Desarrollé una ansiedad crónica por las llamadas de la escuela. Me llamaban para que fuera a recogerlo. Nunca sabía cuántas lesiones podía esperar hasta que llegaba a la escuela. Esta era nuestra aterradora rutina diaria. Durante tres años, nos enfrentamos a veces a hasta 30 convulsiones en un día. En este punto, la escuela no era una opción. En 2019, tuvimos que dejar de ir a la escuela por completo.

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 schoolwork. 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 that 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 that helped the seizures lessen in intensity and frequency; however, they are only controlled until something else triggers them.

Aquí hay una lista de cosas que desencadenan las convulsiones en 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;
Entorno: el frío;
Sensaciones físicas: golpes en los dedos de los pies o en la parte posterior del talón, en el codo y las rodillas, en las orejas y en cualquier parte de la cabeza.

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 with a seizure. We sleep with one ear open. We have safety-proofed the house for him, but still, we get those tiny accidents that 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 the 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.

Fue un viaje de catorce años desde el nacimiento hasta el diagnóstico. Sin embargo, incluso con los resultados de la resonancia magnética que pueden señalar el problema, y un título elegante de "Polimicrogiria"; todavía estamos manejando. Estamos gestionando las incertidumbres diarias. Estamos gestionando varios medicamentos sedantes. Estamos gestionando los factores desencadenantes, las convulsiones por ruptura y las lesiones que provocan. Hacemos lo que podemos por hoy, pero eso no siempre parece suficiente. Rezamos y esperamos que el médico pueda reducir la medicación de Alvin, pero eso está sujeto a una reducción de las convulsiones. Cada día nos trae nuevas esperanzas y desafíos, de ahí nuestro lema: Un día a la vez.