Un giorno alla volta: Il nostro viaggio con una malattia rara e crisi epilettiche implacabili

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.

Stavo tornando allo studio medico con i risultati, mentre per tutto il tempo ho cercato sul mio telefono la condizione denominata polimicrogiria. Era la prima volta che ricevevamo la diagnosi per qualcosa che avevamo trattato per i tre anni precedenti. Alvin era stato inizialmente curato per la meningite quando erano iniziate le crisi. Era così grave che non avevano avuto il tempo di fare una puntura lombare per determinare di cosa si trattasse. Hanno detto che "dovevano solo trattare la presentazione". Così abbiamo pensato che si trattasse di meningite, questo è ciò che ci è stato detto.

C'erano due persone prima di me dal medico, quindi ho avuto un po' di tempo per continuare le mie ricerche. Quando entrai dal medico, ero distrutta.

Il medico non ha fatto altro che parlare di questa patologia. Di come sia qualcosa con cui dobbiamo imparare a convivere, di come possa essere solo gestita e di come sia difficile da trattare. Ma non mi disse quanto grave potesse essere la condizione. Fino a questa diagnosi errata di meningite, Alvin non aveva avuto crisi epilettiche. Tuttavia, aveva registrato un ritardo nelle tappe fondamentali. Aveva un ritardo nel parlare. La masticazione del cibo era assente. È probabile che non sapesse nemmeno di avere del cibo in bocca. Temeva i rumori forti, come quelli dei frullatori e simili. Quando le crisi epilettiche erano ormai conclamate, aveva superato la paura dei rumori, ma il resto era rimasto.

Alvin’s school experience

Alvin frequentava la scuola e se la cavava molto bene, nonostante non avesse la parola. La logopedia lo ha aiutato un po'. Ha sviluppato un proprio modo di comunicare con i compagni e gli insegnanti. Era il primo della classe e amava la scuola.

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.

Quando le crisi epilettiche hanno preso il sopravvento, tutto è cambiato. Non abbiamo mai più conosciuto la pace. Alvin iniziò a tornare a casa da scuola con occhi neri, caviglie e gomiti ammaccati, ferite causate dalle crisi epilettiche. Il mio cuore sanguinava ogni giorno per mio figlio. Non voleva rimanere a casa. E noi pensavamo che, dato che stava prendendo le medicine per l'epilessia, queste avrebbero fatto effetto da un momento all'altro. Dopo tutto, i medici dicevano: "È solo epilessia, giusto?". Sbagliato di nuovo! Un altro giorno, un'altra cicatrice dovuta alle convulsioni. Decisi che ne avevo abbastanza delle cicatrici e decisi di tornare dal medico.

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.

Per tre anni, abbiamo affrontato fino a 30 crisi in un giorno.

Ho sviluppato un'ansia cronica a causa delle telefonate della scuola. Mi chiamavano per venire a prenderlo. Non sapevo mai quante ferite aspettarmi finché non arrivavo a scuola. Questa era la nostra terrificante routine quotidiana. Per tre anni abbiamo affrontato fino a 30 crisi in un giorno. A questo punto, la scuola non era più un'opzione. Nel 2019 abbiamo dovuto interrompere completamente la scuola.

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.

Ecco un elenco di cose che scatenano le crisi epilettiche 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;
Ambiente: il freddo;
Sensazioni fisiche: urti sulle dita dei piedi o sulla parte posteriore del tallone, sul gomito e sulle ginocchia, sulle orecchie e su qualsiasi parte della testa.

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.

È stato un viaggio di quattordici anni dalla nascita alla diagnosi. Tuttavia, anche con i risultati della risonanza magnetica che possono indicare il problema, e con un titolo di fantasia "Polimicrogiria", stiamo ancora gestendo. Stiamo gestendo le incertezze quotidiane. Stiamo gestendo diversi farmaci sedativi. Gestiamo i fattori scatenanti, le crisi epilettiche e le lesioni che provocano. Facciamo quello che possiamo per oggi, ma non sempre sembra sufficiente. Preghiamo e speriamo che il medico riesca a ridurre i farmaci di Alvin, ma ciò è subordinato alla riduzione delle crisi. Ogni giorno ci porta nuove speranze e nuove sfide, da cui il nostro slogan: Un giorno alla volta.