Penticton toddler Charlotte Palmer loves to smile, giggle, and play with her sibling.
“I love her because she is my best buddy,” her big brother said.
The 21-month-old is a very special little girl.
Born prematurely at 29 weeks, Charlotte weighed just under three pounds.
She was later diagnosed with MIRAGE syndrome, a rare genetic disorder, and the only known case in Canada.
“It’s a bit hard when you get a diagnosis of a genetic disease because it is life long,” Charlotte’s mother Christina Palmer said.
Charlotte is fed using a tube directly into her stomach and relies on a machine to help her breathe.
“It means her brain is not always telling her when she needs to take a breath, how deep of a breathe she has to take,” Palmer said. “And so she will have these long pauses, the machine will actually initiate a breath if she doesn’t take a breath.”
The toddler is prone to infection and has a sporadic heart rate.
She also doesn’t feel pain and her body doesn’t regulate temperature which means she can’t sweat or shiver.
Although Charlotte has spent most of her young life in a hospital, her unwavering spirit radiates.
“All of our nurses have fallen in love with her because she is always like this… she will be happy and smiling like this before going into the operating room in January, the nurses were commenting as they’re wheeling her in she is just smiling and cooing at everybody,” Palmer said.
The family is sharing their story in the hopes of raising awareness of rare diseases while advocating for more funding and research.
“It’s sort of parent-based or family-based research to some degree at this point because it is so limited,” Charlotte’s father Rob Palmer said.
The parents don’t know how long they have with their daughter.
They say the average life expectancy of a child with MIRAGE syndrome is just two years of age.
They say they are cherishing every moment with their little ray of light.
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