Makenzie’s FGF12 mutation

To preface, Makenzie was diagnosed with epilepsy shortly after she turned one in January of 2018. Her seizures were pretty  well controlled minus a few hiccups here and there that were fixed by increasing her medications or adding new medications. She went 7 months without any seizure activity until December of 2020 hit. Between December of 2020 and February 2021, her seizures slowly increased and changing her medications or increasing them, didn’t help. 

February 21st, she was admitted for what started out as uncontrolled seizures to encephalopathy. Once they were able to control her seizures, they soon realized Makenzie at that point wasn’t returning to her baseline. They didn’t know if this was from the 3 day steroid treatment she had or if it was from the multiple rescue meds she had been given days prior. It was pretty much a waiting game for Makenzie. 

The following week, she spent most of her days asleep. When she was awake, she was hallucinating. She would repeatedly laydown and sit up for hours. This was causing her heart rate to be anywhere from 180-200bpm. Those hallucinations ended up turning violent. She would throw herself around her bed, hit and punch her pillows, bite people. She was so gone that talking to her, didn’t help as she wasn’t registering anything she was seeing or hearing. She had an MRI done as well as a CT scan done which both came out normal for her age. So once again, we still had no answers. 

On March 4th, we got her genetic tests back that were taken a month prior before this admission. We got the unfortunate news that Makenzie has a mutation in one of her genes that cause both seizures and encephalopathy. This particular gene and mutation is called FGF12 exon 1-4 tandem. There are only 3 other children in the world with this particular mutation so the doctors weren’t able to tell me what Makenzie’s future held. They couldn’t promise they could bring back the Makenzie from December of 2020. Because this mutation is so rare, the only option they had was to start plasmapheresis in hopes that maybe it would do something. 

So that night, hours after getting the news, Makenzie went into surgery to have a central line placed. Over the course of the next 2 weeks, she was getting PLEX treatment every other day for 7 days. And during that time, Makenzie has been improving. She said her first words, she started walking again and showing interest in the things she was once interested in. She was at her baseline and her discharge date was set for 3/19. 

Unfortunately, in the early hours of 3/19, she started seizing again. She had 5 seizures between 12am and 3pm and has been given 3 doses of rescue meds. We’re now on the verge having to go back to the PICU. She’s been asleep more often than she’s been awake today (although she was awake enough for PT). She also spiked a fever of 102.7. Fevers are common after seizures but not for Makenzie. They’re going to be running tests to look for any potential infections and giving her antibiotics just in case.

This whole experience so far has been so heartbreaking and so gut wrenching. You don’t have to donate anything. But if you do, it is much appreciated. There have been so many people who have either kept Makenzie in their thoughts or in their prayers and I just want to say thank you. There aren’t enough words to explain the gratitude that I have .