A 3-year-old girl from Mount Healthy was diagnosed with a rare mutation that only three other people in the world have. Because it is so unusual, doctors know very little about how to treat it. Makzie Riley is being treated for FGF12 exon 1-4 tandem at Cincinnati Children’s Hospital. Within a few weeks, Makenzie could no longer speak, walk, or eat alone. She had a breakthrough at Children’s but now it’s gone down so it’s back to top spot. “She was very sociable and she was fun, and I don’t know that I’m not sure I’ll ever come back,” said Makenzie’s mother, Ashley Riley. Makchenzie has been with Children’s since February 23rd and had an infectious laugh. “She loves love, that was always her thing, was love,” said Riley. The mutation is also responsible for a seizure rash, the worst being 32 in just three days. Makchenzie was diagnosed with epilepsy years ago, but its episodes have never been as frequent or as severe. Although there are so few people in this world struggling for what it is, the family remains hopeful. “It’s scary to know as a parent that your child is the fourth person to have this mutation,” said Riley. The family set up a GoFundMe page to help out with medical expenses. Click here to donate.
CINCINNATI –
A 3-year-old girl from Mount Healthy was diagnosed with a rare mutation that only three other people in the world have. Because it is so unusual, doctors know very little about how to treat it.
Makenzie Riley is being treated at Cincinnati Children’s Hospital for FGF12 exon 1-4 tandem. Within a few weeks, Makenzie could no longer speak, walk, or eat alone.
She had a breakthrough at Children’s but now it’s gone down so it’s back to top spot.
“She was very outgoing and fun, and I don’t know that I’m not sure I’ll ever come back,” said Makenzie’s mother, Ashley Riley.
Makenzie joined Children’s on February 23rd.
She was always sociable, funny, loved to learn, and had an infectious smile.
“She loves love, that was always her thing, was love,” said Riley.
The mutation is also responsible for a seizure rash, the worst being 32 in just three days.
Makenzie was diagnosed with epilepsy years ago, but her episodes have never been so common or severe.
Although there are so few people in this world struggling for what it is, the family remains hopeful.
“It’s scary to know as a parent that your child is the fourth person to have this mutation,” said Riley.
The family set up a GoFundMe page to help cover medical expenses. Click here to donate.
Comments are closed.