Still Around

Hey there! Been busy lately with work and things, but I'm seeing many people have visited the site recently. Although, you wouldn't think that from the minimal comments! I'll update again later. If you have a blog relating to nf1/nf2/neurofibromatosis, let me know, I like reading others' experiences...

Response to John - 2

Yay! Another post to respond to!

"It's always good however to take a step back every once in a while and look at things from a distance. It helps keep your sanity and thoughts in check"

Absolutely. I've taken a step back and looked at a lot of links on Neurofibromatosis and read other blogs regarding NF1 and NF2. I see that I am really lucky and need to be a little more optimistic about things.

"Some friends joke around with me sometimes and call me "Angry John" (the name derives from that Simpsons episode called Angry Dad). But it's really scarcasm on my part, which comes out when I'm stressed (not necessirly about NF)"

Hehe, I think I've seen that episode:) I guess it's just the way we're programmed...

I think John has made me realize that Neurofibromatosis is not something I should overreact to, especially since I'm doing well overall. I hope I can have kids one day, but in the meantime, I'm still learning about NF1.

If anyone knows any good NF1/NF2 blogs, let me know!

Thanks again John for the comments.

yvonnefoong.com

Neurofibromatosis Site

I was surfing the web when I came across Yvonne's Neurofibromatosis site. There's lot's of interesting stuff on that site and I spent a LONG time reading through it because it's packed. Yvonne was kind enough to comment on my blog and provide valuable input. She is a patient of Neurofibromatosis (NF2) and writes about Neurofibromatosis on a freelance basis. I like finding new, updated, interesting information on NF, so it was great coming across her site. A lot of the writing has nothing to do with Neurofibromatosis, so it's cool that there's some variety once in a while. Anyway, her blog is at http://www.yvonnefoong.com/.

If anyone has a personal site on Neurofibromatosis, I'd love to read it. I'm learning a lot about NF and would like to inform others too.

Response To John

John's comments are in blue...my response follows in black:

"I saw your posting on the NFON site, and thought I would check out your blog. Here are my 2 cents to this particular entry, and I will try not to sugarcoat my response...

Thanks! I like it when people are direct.

"Your decision not to have children if you do have NF is a valid one, although I do not know what my decision will be yet. I am curious however though, as to your choice of words in your blog. Such as, "diesase", "..will have terrible symptoms", "..have horrible symptoms." It may just be a result of your fustrations and not knowing how to express it at this time.I do not see NF as a disease. A disease is something you catch"

You're right. I am frustrated, but I shouldn't have used such harsh words by describing Neurofibromatosis has having "horrible symptoms". I apologize if I offended anyone.

"What would be so horrible? Does it stem from the fear that you will develop these "medical symptoms" of NF, or the fear of what others may think of you if they know you have NF"

It stems from not being able to convince myself to have children. I really don't care what others think. All that matters is my loved ones.

"So in the worse case secenario, you are disgnosed as having NF1. All your accomplishments and expreiences so far in life cannot be deminished."

I agree with you. I suppose the biggest thing I've ever looked forward to in the future has been having children though.

"Some people with NF may have their ups and downs (myself included), but most people in general do. While having to wait 1 year to see a geneticist is quite a long time, partially due to a public health care system , Perhaps another person with a more serious matter has to go ahead. (Not to belittle your needs) As it does not appear you are in any immediate medical danger"

I think after reading your comments, I feel a little whiny. I hope I haven't come across as someone who feels sorry for herself, because I really don't. And I'm not "mad at the world"! There are people with far more serious problems, and we all have issues to deal with. I suppose this blog is my little corner I use to express my frustrations and let other people tell me to shut up:)

If I dont have NF1, then I am glad that I am learning about it and becoming aware of something that most people are completely oblivious to. The biggest (maybe the only real) issue I have is not being able to have children. Anyway, hopefully I will be able to impact someones life in some teeny tiny way if I am more aware of Neurofibromatosis.

Neurofibromatosis NF1 - 00006

I feel like a superhuman...

...because my DNA sequence has been permanently altered, which in turn has changed the amino acid sequence of the protein encoded by the mutated gene...

Signs vs. Symptoms
So there's a difference between Neurofibromatosis signs and symptoms! I didn't even know that.

Signs (Unique)

-Dermal neurofibromas - Don't have it
-Plexiform neurofibromas - Don't have it
-Lisch nodules - Maybe
-Axillary freckling - Have it
-Bowing / thinning of tibia - Don't have it
-Optic glioma - Maybe

Signs (Non-Unique)

-Cafe au lait spots - Don't have it
-Scoliosis - Don't have it
-Macrocephaly - Don't have it
-Disfigurement - Don't have it
-Short stature - Have it

I'm still trying to self-diagnose myself to see if I have Neurofibromatosis (NF1). I'm tired now, I'll write about the symptoms tomorrow!

Neurofibromatosis NF1 - 00005

Neurofibromatosis Information (lack of)

Ever since I've been diagnosed with *maybe* having NF1, I've been really surprised and irritated at the lack of information on Neurofibromatosis. Ok, I know, there's tons out there on the Internet, but it feels as though it's not enough. The information all looks the same. I'm not sure what sort of information I'm looking for. I guess I just want more information, maybe a loophole or something. Something that will make me think, "oh ok, there's no way I could have Neurofibromatosis". I know that wont happen and it's all wishful thinking. I'm just going to have to wait it out.

But where do I fit in? Does everyone who has NF1 have horrible symptoms? Am I lucky that my symptoms are pretty much non-existent? Do I even have it? If I do, will it eventually get worse? Is there anyone out there like me? Why do I have to wait over a year to find out if I have a disease? I don't want to wait any longer, I want to know NOW.

I'm afraid that I will start getting neurofibromas if I get pregnant. I'm afraid that my children will have Neurofibromatosis. I'm afraid that my children will not be as lucky as me and will have terrible symptoms of NF1. I'm afraid of the unknown.

I suppose I'm just sick of waiting around twiddling my thumbs, waiting as my life drags on. I hope that I don't have the disease because I have always dreamt of having my own children one day. I know that if I do have the nf1 gene, I will choose not to have children of my own. I don't think I could do it to myself or my children. I totally understand the opposite point of view though where people do want kids even though they have NF1. To each their own.

Neurofibromatosis NF1 - 00004

Dermatologist Appointment

After the nightmare I had gone through with my family doctor, I braced myself for the appointment with the dermatologist. I was afraid that he wouldn't know much about Neurofibromatosis and NF1 either. I lucked out. He was actually quite knowledgeable about it and took a thorough examination of the underarm freckles. He told me that although I didn't show any other physical signs of NF1, such as cafe au lait spots or neurofibromas, the underarm freckling was not normal. However, because I didn't seem to be affected in the way that most people with neurofibromatosis are, he couldn't give me a definitive answer as to whether I even have NF1.

His answers were vague, and he was unsure of his own diagnosis, but at least he was honest. He wrote up a report and told me that he was going to make an appointment for me with the genetics department at the hospital. I was a little apprehenisive of going to a 'genetics' department, it sounds creepy. But anyway, there was no other action that could have been taken, so I waited for the receptionist to make the appointment. I really didn't like how she announced, just loud enough for everyone in the waiting room to hear, that she had never come across someone who could have NF1 and that she had never made an appointment with the genetics department. I'd like to keep something like this private for now, thank you very much.

"About one year". Thats how long it would be for me to get an appointment. The receptionist gave me a card with a number to call if I had any questions, but basically, I had to wait about a year to get an appointment. So, now I'm awaiting my appointment with the hospital. They're supposed to call me when they're ready to see me. I did a lot more research on NF1 and Neurofibromatosis in the meantime, but I lost interest in it for a while. I supposed I struggled a bit, trying to learn about something I'm not even sure I have. I've recently gained interest in it again, because I'm getting engaged and I would really like to know before I decide to have children.