I thought my 2-year-old had a stomach bug — it was a rare brain tumor
A British toddler is suffering from a rare type of brain tumor that doctors believe is the only case of its kind in Europe.
Orla Tuckwell was just 21 months old when she reportedly received her diagnosis in September: she had a medulloblastoma. The young girl had been violently vomiting for weeks leading up to her diagnosis, but doctors initially chalked it up to digestive issues.
It wasn’t until her heart rate and blood pressure drastically changed that clinicians realized something more serious was brewing beneath the surface. Biopsy results appeared to uncover the culprit: a brain tumor.
“It’s heartbreaking to see Orla so ill, battling over and over again,” her mother, Naomi, 37, told SWNS.
“Having to watch helplessly as your child is in agony and being given extra morphine to stop her screaming, or being administered toxic chemicals, will haunt me and [Orla’s father] Adam for the rest of our lives,” she continued.
Medulloblastoma is a pediatric brain tumor that forms in the cerebellum — the part of the brain that controls balance and coordination — located at the base of the skull.
“It’s far too much for a 2-year-old to cope with. Orla should be playing and learning, not having ovarian cryopreservation because all the chemo is making her infertile,” Naomi said.
“She is such a brave little fighter, but we’re constantly anxious about the future.”
Orla’s parents, from Hertfordshire, England, share two other daughters — Ava, 8, and Poppy, 6 — who have spent the past six months watching their baby sister fight for her life in the hospital.
Orla had her tumor successfully removed at Great Ormond Street Hospital, with a biopsy yielding surprising results.
According to her family, Orla has a rare mutant variant called MYCN amplification, which makes tumors more likely to spread and less likely to respond to treatment.
Typically, MYCN amplification — when 10 or more copies of a gene are present — in a tumor corresponds with a TP53 mutation, but the mutation is apparently absent in Orla.
Such a mutation tends to put people at higher risk of cancer development.
“I asked the specialist, ‘What does that even mean?’ But they didn’t know. Our whole world came crashing down around us,” Naomi recalled, saying experts couldn’t find “a single case” similar to Orla’s, making her diagnosis a rare one in Europe.
After four surgeries and grueling chemotherapy, the young girl seems to be running out of treatment paths. She appears to be too young for radiotherapy — and her parents have raised nearly $40,000 as of Thursday via a GoFundMe for alternate treatment options.
The family says in the event Orla doesn’t need additional treatment, the money would go towards her rehabilitation after losing some speech, hearing and mobility.
“The doctors don’t know if they are over- or under-treating her with the current high dose chemotherapy protocol, or if she might relapse,” Naomi explained.
“That would be catastrophic and doesn’t bear thinking about, because after this round of chemotherapy she would not be eligible for radiotherapy until the age of 3.”
The family vowed to donate any excess funds to research on Orla’s rare condition.
“It’s shocking how little is known about this disease, and how under-funded research into brain tumors is,” Naomi said.
There are an estimated 3,840 people in the US living with the same kind of ultra-rare tumor, per the National Cancer Institute, which reports that brain cancer is the leading cause of death by disease past infancy among US children.
Medulloblastoma affects coordination, balance, walking and fine motor skills, according to the government agency.
Sometimes the tumor may impede the central nervous system and cause pressure within the skull, which could spark headaches, nausea, vomiting, vision issues, sleepiness, confusion and even seizures.
If it progresses and spreads to the spine, weakness in the limbs, spinal pain and changes in bathroom habits could occur.