We had seen the surgeon in November and she told us that they think there is a small chance Oliver may have Neurofibromatosis so he needed to be tested by genetics. Neurofibromatosis is a very rare genetic condition that causes tumors to grow along your nerves through out the body. There are three types of neurofibromatosis NF1, NF2 and Schwannomatosis.
Oliver was being tested for NF2, as he didn’t show any signs for NF1. My husband and I had never heard of this genetic condition before but we felt devastated. After researching on the Internet about the condition we were worried as there are so many possible complications that this disorder can effect. We were told if the results come back clear then the condition could be just partial to his leg. However, he needed to have surgery on his lower leg and behind the knee to remove large enough tissue samples so they could do further testing. If the results come back inconclusive it could mean that it is mosaic to that particular area on his leg.
We were also told that Oliver needed to be seen by the neurologist, eye doctor, orthopedic, plastic surgeon, genetics team and the nerve surgeon.
I remember sitting there with my husband by my side and she said we need to make Oliver’s life as normal as possible and this is something that we might need to accept. My husband and I walked out from hearing all of this and just felt so helpless, we couldn’t do anything, they had no idea what this tumor was doing on his leg, it is enveloping his bone, the speed of the tumor is aggressive its so rare there are only 5 cases of this particular tumor in literature and in terms of removal they didn’t have any answers.
We went to St Mary’s genetics in Manchester on the 30th November and met a number of specialist health care professions and also Professor in Medical Genetics and Cancer Epidemiology. First of all they had a look at Oliver’s leg and were shocked at the size of the tumor for a 7month year old baby.
They then checked to see if he had any obvious signs of NF. There were 5 medical professionals in there including the professor and no one had ever seen anything like this before.
We were invited to a research group at Manchester Hospital in November 2016. Every year they invite people with rare medical cases to be seen by dermatologists, doctors and health professionals all around the country. So, of course when they asked for Oliver to be seen I jumped at the chance. The little glimmer of hope that someone may have seen something like this before could help so much. There were around 20 other patients in the room when we got there however; they then assigned us to our own room, which was so much better. Around 45-50 health professionals saw Oliver and were examining his leg; it was a very long, tiring and emotional day.