Brave Queensland toddler Jessi defies odds with giant 1kg mass

A brave little Queensland girl suffering from a rare genetic condition is defying the odds after being born with a giant 1kg mass on her arm.

 

The lymphatic malformation on Jessi’s left upper arm was the size of a pineapple when she was born at Mater Mothers’ Hospital in South Brisbane, raising concern among doctors that it could obstruct her breathing.

 

Wellington Point parents Jonathan and Amara said their daughter was diagnosed with the life-long condition Klippel Trenaunay syndrome (also known as capillary-venolymphatic malformation (CVLM), which causes overgrowth of soft tissue, blood vessels, lymphatics and bones.

 

The syndrome, which is evident with a port-wine stain (birthmark), and an enlarged arm or leg affects one in 50-100,000 babies. 

 

“Jessi will never look normal, but we hope she won’t look as swollen after more procedures,” said Jonathan, 35.

 

“She is aware she looks different and knows she gets called ‘the girl with the big arm’.

 

Amara is on a mission to raise awareness about her daughter’s rare condition.

 

Jessi weighed 3.6kg when she was born naturally at Mater Mothers’ Hospital on 28 August 2021.

 

Amara said surgery was not an option for her daughter and described her as a “strong beautiful girl with a long journey ahead”.

 

She thanked the expert Maternal Fetal Medicine (MFM) team at Mater Mother’s Hospital who closely monitored Jessi from 22 weeks’ gestation until she was born.

 

Jessi’s condition was first noticed when Amara attended her 19-week pregnancy scan at Queensland X-Ray Logan Central.

 

“We were both shocked and very unsure of what was going on when we were told the news,” Amara said.

 

“We had no idea if the mass would cause complications before and after birth. 

 

“The main thing the doctors were worried about was if Jessi’s breathing could be obstructed by the mass.”

 

Jessi spent 10 days in the Neonatal Intensive Care Unit at Mater Mothers’ Hospital after she was born, where she received around-the-clock care from a multidisciplinary team.

 

“Her chest, arm and hand were quite large especially compared to the rest of her body, about the size of a small pineapple,” Amara said.

 

“Her arm was very swollen, and her breathing needed monitoring.”

 

Jonathan said recent x-rays showed Jessi’s spine starting to curve from the weight she carries on her left side.

 

“That’s our next big challenge,” Jonathan said.

 

MFM Chief Sonographer Alison Lee-Tannock, who has worked at Mater for 25 years, said she had only ever seen a handful of Klippel Trenaunay syndrome cases.

 

Dr Lee-Tannock said the MFM team at Mater monitored Jessi and her enlarged arm during the pregnancy with monthly ultrasound scans.

 

Jonathan said that as Jessi becomes more independent, she finds it challenging to grip objects and struggles with her balance.

 

Jessi is currently being cared for by Queensland Children’s Hospital and takes Sirolimus, an immunosuppressant, to slow down the progression of the lymphatic malformation and alleviate pain.

 

“As Jessi is immune compromised, she does get sick quite often. Her arm also flares up and is sore when she is sick,” Jonathan said.

 

She also has sclerotherapy, which involves a doctor injecting a solution into blood vessels of lymph vessels that cause them to shrink, and hydrotherapy, physiotherapy and occupational therapy.