Tuesday, May 30, 2017

And... They're Benign!

Just about 3 weeks ago, I had surgery to remove 3 neurofibromas from my leg. These tumours had been growing, and in a location where they CONSTANTLY rubbed on my pant seem and caused quite a bit of discomfort.

Going into the surgery, I was quite certain I knew that the tumours would be benign, but I had this nagging fear in the back of my mind that the pathology results would come back showing that the tumours were actually cancerous. Well folks, today I got the news from my dermatologist that the tumours are indeed BENIGN! Oh what a happy day! NF brings about a certain level of unpredictability to the table, and knowing for sure that there are no signs of malignant cells in my body is definitely reassuring!

I have written about the different types of NF tumours in the past, but here is a bit of a refresher on what a neurofibroma actually is! I've also included some pictures of my surgical site, so if you're at all squeamish I wouldn't scroll any further :) 

A neurofibroma is a (mostly) benign nerve sheath tumour in the peripheral nervous system. These tumours occur, because people with Neurofibromatosis are unable to make a protein called neurofibromin, which is responsible for "monitoring" the body for tumor growth... kind of like how cops monitor for crimes... However, people with Neurofibromatosis do not make this specific protein, which is why tumors can rapidly grow in the body.

The primary treatment for these tumours is surgery, which is what I went through 3 weeks ago! Overall, this is my second surgery. The first being a major surgery when I was 13 to remove a different kind of tumour called a plexiform.


SO HERE YOU CAN SEE THE 3 TUMOURS





HERE THEY ARE AFTER THE BANDAGES CAME OFF (THERE WERE 13 STITCHES TOTAL)





HERE THEY ARE ONCE AGAIN ONCE THE STITCHES CAME OUT 





ON THE WAY TO BEING HEALED




Here's hoping I didn't gross anyone out tooooooo much! Remember, I did warn you about surgical pictures! 

- Court 

Monday, May 1, 2017

31 Neurofibromatosis Awareness Facts!

1. Neurofibromatosis is one of the most common genetic disorders caused by a mutation of a single gene.... more than 2 million people worldwide are affected by this condition!

2. Neurofibromatosis is more common than Cystic Fibrosis, Huntington's, and Muscular Dystrophy... COMBINED!

3. There are 3 different classifications of Neurofibromatosis: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis, all of which are caused by mutations of different genes

4. Neurofibromatosis is an autosomal dominant disorder, meaning people who have the condition have a 50% chance of passing it onto their children. However, more than 50% of NF cases are due to "spontaneous mutation" of a chromosome.



5. Neurofibromatosis Type 1 has a prevalence rate of 1 in 3,000 people and makes up 90% of all NF cases

6. Neurofibromatosis Type 2 has a prevalence rate of 1 in 25,000 people

7. Schwannomatosis is the most "rare" of the Neurofibromatoses, as it only occurs in 1 in 40,000 people

8. Neurofibromatosis Type 1 is caused by a mutation of chromosome 17, which is responsible for making a protein called "neurofibromin". Neurofibromin plays a role in tumor growth inhibition, which is why people with NF have tumors grow all throughout their bodies

9. It's hard to predict how mild or how severe any NF case will be. Approximately 60% of people will have very mild symptoms (ex: cafe-au-lait spots), while the remaining 40% will have moderate to severe symptoms/complications that may be corrected by surgery/medication or that may be persistent and life long (ex: scoliosis)

10. Neurofibromatosis is a systemic condition, meaning that it impacts all systems of the body.


11. Cafe-au-lait spots are the most common sign of Neurofibromatosis. Cafe-au-lait spots are caused by an excessive amount of melanin in the skin. Melanin is a protein that gives skin its pigment. One of the diagnostic criteria for Neurofibromatosis is to have six or more cafe-au-lait spots that are at least 0.25 inches in diameter. It is rare for tumors to grow where there are cafe-au-lait spots (BONUS FACT: 10% of people in the general population have cafe-au-lait spots)


12. The one distinguishing diagnostic criteria that separates NF-2 from the other Neurofibromatoses is the development of tumors on the 8th cranial nerve in both ears (this nerve is important for hearing). In some cases these tumors can cause loss of hearing, and in some cases deafness. These tumors are almost always seen in NF-2 ONLY

13. Lisch nodules are the most common ocular complication seen in Neurofibromatosis, as approximately 95% of people have these by the age of 6. Lisch nodules are hyperpigmented patches in the eye that do not impede vision. Sometimes they can be seen with the naked eye



14. It is estimated that 15-40% of people with NF have optic nerve gliomas. Most often, these tumors develop in childhood and are very unlikely to develop in adulthood. Typically these tumors are very slow growing and have very low malignancy rates. They can however cause vision loss in some people

15. More than 60% of people living with Neurofibromatosis also have a learning disability. Children with NF are 5 times more likely to suffer from ADD and ADHD

16. People with NF have a slightly higher chance of developing cancer in their lifetime than those in the general population. Approximately 25% of people will have cancer in their lifetimes, and 30% of people with NF will develop cancer

17. Treatments for NF tumors include surgery, chemotherapy, radiation and medications to control various other symptoms/complications. Sometimes chemo and radiation are used for tumors that are not cancerous... in these cases these tumors may not be operable or surgery may not be an option! As of right now there is no cure for NF, but researchers are working hard to find a cure!

18. Skeletal abnormalities include scoliosis/kyphosis, tibial dysplasia, osteoperosis, short stature, macrocephaly (large head) and chest wall deformities are frequently seen in people with Neurofibromatosis



19. Neurofibromatosis occurs equally in all races and all genders

20. No two cases of Neurofibromatosis are alike... every person is going to be impacted differently

21. People who have NF-1 tend to show symptoms by the time they are 10 years old

22. Less than 1% of people with NF-1 will have the following complications: early or late onset puberty, being too tall/too short, excessively itchy skin, hormonal imbalances or having brain tumors other than optic nerve gliomas

23. People with NF-2 tend to show symptoms by the time they are in their late teens to early 20's

24. People with Schwannomatosis can be symptom free until they are 40 years of age

25. The most common problem that people with Schwannomatosis face are issues with chronic pain. This is usually the first symptom that appears before a person is diagnosed.

26. Schwannomatosis does not share the same genetic patterns than NF-1 and NF-2 do. It tends to skip generations... so your grandma could have it. then your mom may not have it, and then you could have it.

27. It is not entirely known if there are things that trigger tumor growth. It seems that there are periods of tumor growth during puberty and pregnancy.

28. 1 in 3 people with Neurofibromatosis have a plexiform neurofibroma



29. NF is NOT the Elephant Man Disease. It is actually hypothesized that the "Elephant Man" had a disorder called Proteus Syndrome, which causes there to be an overgrowth of tissues

30. NF can also be called von Recklinghausen Disease

31. Neurofibromatosis is not contagious. People with this condition are no different than those from the general population. Help me raise awareness by sharing these facts, and commenting below with your own NF Awareness Facts... this is just a very small amount of information on NF!!!