23 August 2022
We’re inspired by a special little boy this week named Alfred, sharing his story about living with Neurofibromatosis.
Neurofibromatosis is a genetic condition causing benign tumors (neurofibromas) and growths to form around the body. Neurofibromas often grow on the ends of nerves referred to as ‘plexiform neurofibromas’, causing impairments affecting the heart, hearing and eyesight.
Alfred has Neurofibromatosis Type 1 (NF1), a more common but less known condition – however, more prevalent than Cystic Fibrosis, Muscular Dystrophy and Huntington’s Disease combined. In half of the cases, NF1 is either inherited through your parents or is the result of a spontaneous mutation of the genes.
Neither of little Alfred’s parents carried the gene - it had spontaneously occurred for the first time in Alfred.
The brave and brilliant 7-year-old from Sedgley has been enjoying the sun with his best pal Stanley, the brown Cocker Spaniel this week while mum and dad, Catherine and Darren caught up with us, about how their little one continues to inspire them in his journey with Neurofibromatosis.
At just three weeks old, the family visited our Children’s Hospital every couple of weeks with concerns about little Alfred’s eyesight, worrying that he may have glaucoma in his right eye. To save his sight, at 6 weeks old, Alfred underwent optic surgery with our Eye Department team to release the pressure that had built up in his eye over time.
A benign tumor had wrapped itself around Alfred’s optic nerve, impeding his eyesight and causing harmful pressure which could have resulted in blindness to his right eye.
From two rounds of ‘debulking’ surgery, to remove the growth, Alfred has been able to keep his sight but likes being referred to as ‘Alfred the pirate’ for his brilliant bravery following his surgery.
He has worn his eye patch to strengthen his sight in his right eye since he was just 6-weeks-old.
Diagnosed by several specialists at 18 months old, it was confirmed that Alfred had Neurofibromatosis Type 1.
Both of his parents did not carry the gene, however, the gene appeared spontaneously within Alfred’s genetic makeup, causing the rare condition to develop.
"Following Alfred’s NF1 diagnosis we began annual paediatrician appointments with the NF1 doctor and Carolyn the NF1 Nurse at Birmingham Children's Hospital.
Having a team that understand NF1 was a huge relief after a period of us starting all appointments by explaining NF1 and then giving our diagnosis journey to medical professionals who felt Alfred’s symptoms were not obviously indicating the condition.
He had only two cafe au lait patches originally and that’s only slightly increased since. He’s not ‘withdrawn’ or facing any significant learning difficulties, as we were told he might, so a few doctors were surprised we’d received a positive diagnosis.
It was Alfred’s plexiform neurofibroma around his right eye that convinced his eye consultant that he should have genetic testing and ultimately he was right."
"Like every NF family, it was a diagnosis we did not want but offered some relief that we could at least move forward."
It was at this stage that we first received a call from Melanie. She’d received our details from Alfred’s medical team and offered some information, support and education advice.
Alfred had just started school and she arranged for information to be delivered to support his learning.
Lockdown meant visits were delayed but as soon as she was able, Melanie arranged to visit his teachers and provided a whole range of information to support teachers to understand the condition and how it could impact Alfred’s learning.
She’s remained in regular contact and offers a friendly face as we approach new milestones and further treatment to navigate.
"We are grateful to her, Nerve Tumours and the network of families who help to normalise Alfred’s journey through the Childhood Tumour Trust."
At 7 years old, Alfred the Pirate takes Neurofibromatosis in his stride – not allowing it to prevent him from having fun, making friends, and enjoying the company of his sea dog Stanley.
Mum, Catherine Hickman said: “The only thing Alfred was scared about was having to shave his hair for the operations as an in-patient, but luckily, he has not had surgery since he was three and a half years old.
He has only recently had to go back for surgery at the Great Ormond Street Hospital.
He’s so friendly, chatty and bright – he has lots of friends and he hasn’t let his Neurofibromatosis hold him back.
"Advice I would give to other parents would be to find other people in the same position. We do a lot through social media, making friends across the UK. It normalises the condition for your little ones and helps you to also find a sense of community"
We’d like to say a big thank you to the family for sharing their inspiring story with us, along with their advice for other parents and children with Neurofibromatosis.
We would also like to say a thank you to the Birmingham Children's Hospital Clinical Genetics team for continuing to support children and young people with Neurofibromatosis, with a special shout out to one of our colleagues, Melanie Murrell, Neurofibromatosis Specialist Advisor.