Alfred the Pirate

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. 

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.

"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 He’s not ‘withdrawn’ or facing any significant learning difficulties, as we were told he might, so a few doctors were surprised we’d received a positive diagnosis.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." 

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.

You can read more about the awareness campaign here