One of only a few cases of its kind in Europe, a British toddler has a rare brain tumor, according to doctors.
When Orla Tuckwell reportedly received her diagnosis in September, she was only 21 months old: Her tumor was a medulloblastoma. In the weeks leading up to her diagnosis, the young girl had been violently vomiting, but doctors initially dismissed it as digestive issues.
Clinicians didn’t realize that something more serious was going on beneath the surface until her heart rate and blood pressure changed dramatically. The results of the biopsy seemed to point to the culprit: brain tumor
“It’s terrible to see Orla so sick, doing combating again and again,” her mom, Naomi, 37, told SWNS.
The cerebellum, which is the part of the brain that controls balance and coordination, at the base of the skull is where medulloblastoma, a pediatric brain tumor, grows.
It is far too much for a two-year-old child to handle. Naomi stated, “Orla ought to be playing and learning, not having ovarian cryopreservation because all the chemo makes her infertile.”
We are constantly concerned about the future, despite the fact that she is such a brave young fighter.
Orla’s parents are from Hertfordshire, England, and they have two other daughters, Poppy, 6, and Ava, 8, who have watched their baby sister fight for her life in the hospital for the past six months.
At Great Ormond Street Hospital, Orla had her tumor removed successfully, and a biopsy revealed unexpected results.
Orla has a rare mutation called MYCN amplification, which, according to her family, makes tumors more likely to spread and less likely to respond to treatment.
MYCN amplification, or the presence of 10 or more copies of a gene, is typically associated with a TP53 mutation in a tumor; however, the mutation appears to be absent in Orla.
Such a transformation will in general put individuals at higher gamble of disease improvement.
“I asked the specialist, ‘What even means that?’ But they weren’t aware. Naomi recalled that “our whole world came crashing down around us.” She said that experts couldn’t find “a single case” like Orla’s, making her diagnosis uncommon in Europe.
The young girl appears to be reaching the end of her treatment options after four surgeries and exhausting chemotherapy. She appears to be too young for radiotherapy, and as of Thursday, her parents had raised nearly $40,000 via a GoFundMe account for other treatment options.
The money would be used to help Orla rehabilitate her speech, hearing, and mobility if she does not require additional treatment, according to the family.
Because she would not be eligible for radiotherapy until she was three years old, that would be catastrophic and not worth thinking about.
The family promised to give any overabundance assets to explore on Orla’s uncommon condition.
Naomi stated, “It’s shocking how little is known about this disease and how little money is given to research into brain tumors.”
