May 22nd is NF2 Awareness Day.
Normally I don’t discuss deep and serious topics on my blog but this is one that is very close to my heart and awareness equals knowledge and (hopefully) treatments. My beautiful eldest son was diagnosed with Neurofibromatosis Type 2 (NF2) about a year ago. What started as a limp that didn’t go away and a trip to the podiatrist, turned into about a year and a half of specialists visits, hospital visits and tests with the longest list of specialists you’ve ever seen. The initial thought was that he had NF1 which is the more common type and affects about 1 in 2500 people. This statistic is similar to that of Cystic Fibrosis but nowhere near as well-known.
Final diagnosis is that my son has NF2 which is mush less common and affects 1 in 25,000 people. It is a rare genetic disorder that presents differently in each patient and symptoms start at different ages but usually start to occur during teen years or a bit later (yes my son is younger given that he is only 8 now). And most importantly there is no cure and very little in treatments.
NF causes tumors to develop in the brain, spinal cord, and nerves. NF2 was diagnosed in my son due to the presence of the characteristic tumours on the acoustic nerves. These tumours affect sound and balance and often lead to partial or complete hearing loss. He had also previously had a cataract removed from his eye which we have since discovered is another symptom of NF2 in young children.
And his limp ended up being drop foot as a result of tumours in his upper thigh and lower spine.
The condition occurs as a result of a gene abnormality. May 22 is NF2 Awareness Day as NF2 is a mutation of Chromosome 22.
For those who would like to know more about this disorder and the shocking impact it can have please click here to visit the Children’s Tumour Foundation website.