3 December 2018
Neurofibromatosis, also known as NF, is a genetic disorder. There are three types of NF: NF1, NF2, and schwannomatosis. Neurofibromatosis type 1 (NF1), formerly known as von Recklinghausen NF or Peripheral NF, and is the most common of the three types of neurofibromatosis
NF1 is one of the most common inherited neurological disorders, affecting about 1 in 3,000 people throughout the world. The disorder is characterized by multiple light brown skin spots and neurofibromas (small benign growths) on or under the skin, and/or freckling in the armpits or groin.
About 50% of people with NF1 also have learning challenges. Softening and curving of bones, and curvature of the spine (scoliosis) may occur in some patients with NF1. Occasionally, tumours may develop in the brain, on cranial nerves, or on the spinal cord. While NF tumours are generally not cancerous, they may cause health problems by pressing on nearby body tissue. Sometimes a benign tumour may become malignant (cancerous), but most people with NF1 will never develop a malignant tumour. NF1 is usually diagnosed at childhood.
Williamsons Solicitors are currently investigating a claim for Mr and Mrs K, on behalf of their 2 year old son, Master R, who is thought to be one of Britain’s youngest stroke victims. From the day Master R suffered the stroke, his parents believe there are serious questions to be answered, as to why he was not referred sooner for investigations into his rapidly deteriorating health issues.
Mr and Mrs K would like to raise awareness of Neurofibromatosis, and to make others aware of the tell-tale signs of this rare disorder.
Following the birth, Master R was born a healthy twin. By way of brief history, Mr K suffers with Neurofibromatosis. Master R was approximately 8 months old, both Mr and Mrs K noticed that their son had several light brown spots around his body.
After referrals through his GP, Master R was diagnosed with NF, clinical stages only. His parents were told that their child needed to be monitored and that no treatment or further tests were needed at that time.
In December 2017, the parents started to notice that Master R was having issues with his eyesight. They noticed, when he was playing with his toys, he needed to bring them closer to his face. He was also bumping into things. They would compare his development to his twin brothers, which was noticeably more advanced.
Following an appointment with the GP, Mr and Mrs K were advised that Master R’s eyes were not dilating correctly and confirmed that he would make a referral for an urgent appointment to hospital for tests.
Mr and Mrs K tried to carry on with normal everyday life with their son and persisted with his symptoms. He constantly looked in a daze and was not playing with his toys as he normally would.
On 2.2.18, Mrs K noticed that Master R was very quiet in his room. This was not normal for him, as he was usually very vocal in the morning and used to stand up crying in his cot wanting to get out.
When Mrs K went into the room she found her son laid flat on his back crying quietly. She called for her husband to have a look at him. Mr K tried to lift Master K’s left arm up and noticed that he could not raise it on his own. He also tried lifting his left leg, which he also could not raise. He picked Master R up, lifted him out of his cot. He was laid on the floor, on his tummy, to see if he could crawl, but he just laid down crying and could not move. Following this, an ambulance was called, as they suspected Master R had had a stroke.
The ambulance arrived and Master R needed to be admitted to Hull Royal Infirmary for further emergency investigation.
Master R was rushed through to A & E at Hull Royal Infirmary and a CT scan was performed. They were advised that a black mass was showing on Master R’s brain. The parents were told that their child would need to be transferred to Leeds General Infirmary (LGI) as a matter of urgency, with a view to doing an MRI scan.
Following further tests, it was explained that Master R had a brain tumour, which had caused him to to have a stroke.
Master R has had to undergo numerous gruelling operations and faces further operations in the future. He is also currently undergoing chemotherapy treatment. The case has featured in the press to try to raise awareness https://www.hulldailymail.co.uk/news/hull-east-yorkshire-news/miracle-stroke-toddler-reunited-twin-1401205.
The case is ongoing with regards to the delayed diagnosis, and treatment of Master R’s condition.
Although this is a rare disorder, Williamsons Solicitors believe that there may be other patients out there young or old, that are living with Neurofibromatosis and who are struggling to deal with their treatment. Our expert medical negligence solicitors have a wealth of experience on dealing with misdiagnosis claims. If you would like to speak to one of our experienced Solicitors, please contact Williamsons on 01482 323697.
