By Liana Jacob
WHEN THIS boy was born with a condition that left his face covered in tumours that would NEVER stop growing, doctors warned he wouldn’t see his first birthday – but ten years later he is proving them all wrong.
In 2009, assistant, Jane Fergus (47) and her husband, Fred (50) from Kansas, USA, were excited to find out they were expecting a baby boy. Throughout her pregnancy, Jane had no idea that there was anything medically wrong with their son.
So, they were shocked when shortly after her normal birth in August 2009, their new-born son, Frankie (10), was rushed to the intensive care unit (ICU) due to abnormal breathing.
He spent six days in the neonatal intensive care unit (NICU) before he was sent home. Despite expressing her concerns over his health to multiple physicians, Jane was told that his breathing was normal.
During an eye test with an ophthalmologist, Frankie was diagnosed with glaucoma and he needed several surgeries to treat it. When he was one month old, after a routine eye surgery, his oxygen levels did not return to normal. He was rushed back to be re-intubated until his breathing could be stabilised. A few months later in December 2009, he was referred to an ear, nose and throat specialist, where the couple heard about neurofibromatosis for the first time. A short while later, he would be diagnosed with neurofibromatosis type 1 (NF1), a genetic condition that causes tumours to grow along the nerves.
Doctors feared that he would never be able to talk or walk due to his condition and may not live to the age of one. The news devastated Jane and Fred but they were determined to give Frankie the best care they could to prolong his life.
In August 2020, Frankie will be celebrating his 11th birthday – 11 years since he proved doctors wrong about his life expectancy.
“During a meeting with an NF specialist in Philadelphia, I remember the team of doctors had taken us into a conference room and the lead physician started showing us images from his MRI, and she seemed overwhelmed, the images just kept going and going,” Jane said.
“Then they explained that he had suffered a stroke in utero and had significant brain damage, that he had significant tumour development.
“Initially, we were devastated not understanding what the diagnosis meant. Then we were told he likely wouldn’t see his first birthday, they told us it was one of the worst cases they had seen in a child his age.
“Frankie has a genetic condition that causes uncontrolled tumour growth. These tumours can grow anywhere and can be very painful and oftentimes disfiguring. They can be cancerous but Frankie’s are not at this time.
“[At the time of his diagnosis, I felt] A significant loss of a normal childhood and fear; I feared what the future would look like for him. I feared he would die before me.
“I [still] fear his tumours will start growing again. I grieve the loss of a childhood. I see other children doing things that my child will never do and I grieve.
“I see my nieces and nephews and my daughter doing things like driving, and prom and realise Frankie will never experience that. I see other children rocketing past him in both educational skills and social skills.
“Whilst many of his classmates are working on multiplication and division, Frankie is learning what the number one looks like and how to count. I grieve the loss of so many things.
“I have always shared pictures of Frankie with friends and family but I really decided to share our story and images in 2016 during the US healthcare debate/crisis.
“We felt it was important to put a story and a face to the decision being made. We wanted people to understand the cuts and changes our President and Congress were considering; they were very dangerous to Frankie and kids like him.”
NF1 is caused by a faulty gene, if the NF1 gene is faulty; it results in uncontrolled tumours developing in the nervous system.
Whilst there is no cure for NF1, for some patients there is treatment available to alleviate the pain such as surgery to remove tumours, medication, physiotherapy, psychological support and pain management. For Frankie, surgery was not an option so doctors started him on an investigational drug that has caused a 33 per cent reduction in his tumour mass.
Despite his odds, Frankie has made significant strides in his mobility – which is something that doctors never thought would happen.
“I feel like oftentimes people underestimate what he can do. After people have been around him for a while they always tell me how smart he is and how sweet he is,” Jane said.
“Frankie is non-verbal so communication can be a challenge. He is also partially deaf and blind and needs assistance walking.
“Any time we take Frankie out of our ‘bubble’ we have to be prepared to deal with the public. When you have a child with a facial deformity you have to be very patient with people.
“I often have to stop and address children pointing at Frankie and staring at Frankie, etc. I usually stop and get down on their level and explain that Frankie’s feelings don’t get hurt too much but there are many other children that look like Frankie or have other disabilities and it does hurt their feelings when you point and laugh.
“Sometimes when you have a kiddo that has been given a poor prognosis, you live for the day and feel very blessed to have each and every day. I ‘try’ to plan for the future without giving it too much thought.
“Sometimes, I feel like I’m waiting for the other shoe to drop. When you get so much bad news at once, it is very hard to process good news. You never want to let your guard down for fear of being hurt.
“Never give up, keep fighting, and keep advocating. Be loud until you get the answers you need. Be your child’s voice and never settle.”