As new parents, we’re conditioned to worry about them 24/7. Sometimes, it can get to the point of paranoia.
But for new mom Nicky O’Brien, you can never be too vigilant.
Her daughter, Maisie O’Brien, is just 15 months old. But even at this young age, she suffers 40 seizures every day.
The seizures can last up to an hour, and can happen any time.
She has what’s called Shox Depletion, a genetic condition that occurs from infancy in which the child is born missing part of an X chromosome.
Her mother said, “On a good day, Maisie will only have one or two seizures, but other times it can be more than 40. I think the most she’s ever had in one day is 46.
“It’s terrifying when it happens, but despite all of this, she’s the happiest and most loving child you would wish for.”
She had her first seizure when she was seven months old. Doctors were confused, and thought it might be febrile convulsion—a much more common condition than Shox Depletion, which makes infants’ bodies become stiff and convulse.
However, once Maisie began to struggle with coordination, her mother became worried. That’s when she was diagnosed with both frontal lobe epilepsy and Shox Depletion.
Maisie is missing an important gene—the Shox gene—which regulates activity in genes that grow arms and legs. But doctors have never seen anything quite like Maisie’s condition, and are investigating to see if she may have any other conditions as well.
She suffers from several types of seizures, too, which make it difficult for doctors to find a good medication for her. She has tonic clonic seizures, which are the ones most people are familiar with, and absent seizures, during which time she just becomes vacant.
Four times, she’s had to go to the hospital for oxygen.
Right now, Maisie’s parents alternate sleeping in a camp bed next to their daughter’s bed, in case she should seize during the night. They’re also currently fundraising for a special bed that would sound an alarm when she convulses, and a sleep apnea machine that would alert her parents if she stopped breathing for ten seconds or longer. They’ve already raised almost all of the money.
Let’s hope they can get this help, so these parents, and Maisie, can get the care and sleep they need.
