Hey friends! Thanks for checking this blog out, and thank you to the amazing people who contributed questions to this months blog! I thought it might be a cool idea to see what YOU all wanted to learn about, so take a look at some of the really great questions that were asked! If anyone has any further questions just comment in the comment section below and I will answer them to the best of my ability :)
Q: How do you tell your children about Neurofibromatosis?
A: Honestly, I think this one is totally dependent on the child and the family circumstances. You need to base your education on the child's developmental level, and ability to comprehend the information. I remember when I turned 13 my parents gave me a printed handout about Neurofibromatosis and told me to read through it and ask any questions that I had. Considering I didn't really have any issues until later in my teen years, this was a good method for my parents to use! Some research does suggest however that involving children in their diagnosis a young age helps them gain more insight into their condition.
For younger children, talk to them in terms you know they will understand. Don't plan on telling them lots of things the first time you talk to them, you will likely overwhelm them and they will probably ask you lots of questions! Make sure to keep your language simple, and don't include any scary information like "Sometimes these tumours can become cancerous." Instead, use terms like:
“This doctor sees lots of children with brown patches on their skin. Doctors call these a special name: cafe au lait patches...”
** Since I do not have children I had to rely heavily on Google for this answer... I hope it helps you guys out! **
Q: If and when you were to have a baby, what are they chances you would pass NF onto your child? Are there any procedures or medications that can prevent your baby from having NF?
A: Neurofibromatosis is an autosomal dominant condition, meaning that the person who has it has a 50% chance of passing it onto their child regardless if their partner does or does not have the condition. Also, if a parent has a severe case of NF, it does not mean that their child will have a severe case, and vise versa. If a parent has NF-1 they cannot pass on NF-2, and if they have NF-2 they cannot pass on NF-1.
Pregnancy and Neurofibromatosis can have many different manifestations. Some research links tumour growth with fluctuations in hormone levels, so women who have NF and are pregnant frequently see tumour growth in their pregnancies. Some research studies have also shown pregnant women with NF to suffer from more complications such as gestational hypertension, preeclampsia, intrauterine growth restriction and have higher rates of needing a cesarean section. MOST women who are pregnant and have NF tend to have very few complications, but need very close monitoring by a trained obstitrician!
Now, in terms of preventing an offspring from developing NF... there are new methods and techniques to make this happen! In vetro fertilization can be a useful technique for couples who are looking to get pregnant. There is a therapy (I'll be darned if I can find the name of it) where the NF gene can be isolated and thereby not be a "chosen" embryo for women to have implanted! Super cool hey?!
** Just a note: 50% of NF cases are due to a spontaneous mutation of a chromosome, which means a parent does not have to have the condition in order for their child to get it... it occurs because of a random and unfortunate mutation of a gene. Both NF-1 and NF-2 are just as likely to have spontaneous mutations **
Q: Can you have NF-1 and NF-2?
A: YES! You can have have both Neurofibromatosis Type 1 and Neurofibromatosis Type-2. According to Boston Children's Hospital it is very rare to have both types. Neurofibromatosis Type 1 is a mutation of chromosome 17, while Neurofibromatosis Type 2 is a mutation of chromosome 22. Although you can have both types, NF-1 will never turn into Type 2 and vise versa. Also, just because you have internal tumours does not mean that you have NF-2, many people with Type 1 have internal tumours... get genetically tested if your doctor is telling you that you have both!
Q: What is the typical age that people get diagnosed with NF?
A: Typically, Neurofibromatosis Type 1 is diagnosed early in childhood, while Neurofibromatosis Type 2 can manifest in early childhood, adolescence and sometimes early adulthood.
Q: Is NF more common in males or females?
A: NF does not discriminate against, age, race, or gender. An equal number of males and females will have Neurofibromatosis.
Q: Pain is quite common in Neurofibromatosis. Are there common levels of pain or locations of pain? What are some pain management techniques?
A: There is actually no common location for pain to manifest in Neurofibromatosis. Many different manifestations can cause pain, such a plexiform neurofibroma growth, bone abnormalities such as scoliosis, tumour growth and location of subcutaneous (under the skin tumours). I personally really struggle with chronic headaches and back pain related to my scoliosis. I've had so many struggles with dealing with chronic pain over the years, and seem to be an anomaly as no pain management techniques seem to be effective for me. However, typically things like various different types of medications can work to control pain, alternative therapies such as massage and chiropractic therapy, dietary and lifestyle management can work to control pain. I've learned as a nurse that pain is incredibly subjective, and what might be 10/10 pain for someone might be a 3-4/10 on the pain scale for someone else. I usually like to ask my patients if their pain is tolerable, and if they were at home if they would take something to manage their pain. If you or a loved one is suffering from chronic pain DO NOT GET DISCOURAGED. Try multiple different things, you might just be surprised what works and what doesn't.
Q: What would have been different about you and your life if you didn't have NF? How has it positively influenced your life?
A: Honestly I think everything would be different! My entire life story would be re-written!Most of what I have been through and choices that I have made have been in relation to my NF. If I didn't have NF, I'm not sure I would be in the career I am in, I wouldn't have met some of the amazing people that I have through different NF organizations... I would not be writing this blog! Although there have been many times that I have cursed my condition and have wished that I didn't have to deal with it, ultimately it has made me into me! I'm stronger, more dedicated, more caring and understanding because of some unfortunate circumstances that I have faced at a young age.
Q: Has your NF impacted your dating life at all? When do you tell your significant other?
A: Yup! It sure has! All through high school I felt like I was different, and considering I didn't accept myself for who I was, I didn't understand why someone else would accept me. I had (and still have) many issues with self-confidence, body image and so on, so that made dating almost impossible in my teenage years. I didn't date at all through high school or university, and only entered into my first relationship last year when I was 22.
My circumstance was unique, I was already friends with my boyfriend before we started dating and he actually came to a fundraiser I hosted with my not-for-profit group and listened to me speak! So he already knew about my health and history before we started dating.... But if you're not as lucky as I am, I don't think there is a "time" to tell your significant other about your health... you just have to do it when the time feels right! I mean I probably wouldn't say anything on the first date or the first time you meet, but you'll know when the time is right!If the relationship is meant to be they will be accepting!
Thanks for tuning in guys.... I had so many questions that I will have to post a second Q & A post!