neurofibromatosis

[Dbld78]

my mom recently had an mri that revealed that she had 2 lesions on her frontal lobe. she saw a specialist on tuesday at jefferson and blood test revealed that has a very rare diease called neurofibromatosis. although it is not terminal it can create dibilating circumstances. the first specialist wants to treat with radiation...

 

the scary thing is that it is a heriditary genetic diease that i now have to be tested for and even if i do not have the diease i carry the gene and i could potentailly have a child who is affected by this.

 

there are 2 different types of the diasese NF1 and NF2, NF2 is the rarer of the two and is more dibilating. what occurs is you body grows tumors on your nerve endings. this could appear on your skin causing small tumors or inside causing tumors to grow in your brain or on organs. they are not cancerous tumors but they need to be watched.

 

if you've seen the movie mask with cher this the same diease that he had in the movie...but he affected his bone structure.

 

very scary...

 

Neurofibromatosis Clinics Association

[Nrvsbride]

Danielle I am so sorry to hear this news. I am actually very familiar with this diesease (I used to work for a neurologist). Let's hope that your mother will be fine and that she won't have the extremely debilitating form. When do you plan to get tested for it? Don't worry I'm sure everything will be allright. I will keep both your mom and you in my prayers.

[amandalovesryan]

Danielle, I am sorry to hear this! I will say a prayer for you and your mom! Keep us posted!

 

P.S. We live very close to each other!

[Dbld78]

wow...thank you so much! yeah any info you can share about the diease would be so helpful, this is all so fresh...we just found out on tuesday.

 

my sister is being tested on monday, but i really want to wait until after my wedding, i just don't want to have to worry about it right now....i know that if i find out now that'll just become obessive and planning this wedding is stressful enough...lol!

[amandalovesryan]

I agree with you about finding out soon but I just want to throw this at you, if you wait until later will it drive you insane worrying?

[Nrvsbride]

Danielle it makes sense to wait until after the wedding. You deserve to enjoy this time in your life without any added stress. I found this for you:

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Genetics of NF1 and NF2

 

NF1 and NF2 are called autosomal dominant genetic disorders. Half of all cases are inherited from a parent who has NF1 or NF2; half of all cases are not inherited but the result of a new or spontaneous mutation (change) in the sperm or egg cell. Each child of a parent with NF1 or NF2 has a 50% chance of inheriting the gene and developing NF1 or NF2. The type of NF inherited by the child is always the same as that of the affected parent (i.e. if the parent has NF1, each child is at 50% risk for NF1. If the parent has NF2, each child has a 50% chance to inherit NF2). However, the severity and the kind of manifestations may differ from person to person within a family.

 

When a parent has NF1 or NF2, there is a 50% chance with each pregnancy for the child to receive the NF1 or NF2 gene, and a 50% chance for the child to receive two unaffected genes and to be free of NF1 or NF2. The child with NF1 or NF2, as a result of a new mutation, does have the 50-50 chance of passing the NF1 or NF2 gene on to his or her children.

 

Unaffected parents who have a child born with NF1 or NF2 because of a spontaneous mutation do not have a 50-50 risk in future pregnancies. Their chance for another child with NF1 is about the same as that of any couple in the general population, that is, one chance in 7,000.

 

One additional birth in every 7,000 results in a child who has inherited NF1 from a parent with the disorder. Thus, a total of 2 children in 7,000 or 1 in 3,500 are born with NF1.

[Dbld78]

Quote:

Originally Posted by amandalovesryan I agree with you about finding out soon but I just want to throw this at you, if you wait until later will it drive you insane worrying?

i don't think so...
i'm not exhibiting any syptoms and neither is my sister, she's just planning to get pregnant shortly.

my mom has four older brothers who also need to be tested because 2 of them have syptoms like my mom which in turn would mean there are 11 grandchildren and 2 great grandchildren would need to be tested....hard to swallow...

pss we do live very close...you live even closer to my sister...lol!

[Alyssa]

Danielle - i am sorry to hear that - that is very scary and i am sorry for you mom. i am glad that you are all going to Jefferson (live in Philly) as they are one of the best in our area. i will say a prayer for all of you

[amandalovesryan]

Good luck, like I said, I will pray for you and your family! So for you guys and your extended family to get tested, do you also need MRI's? One of the interns that I used to work with actually went to Jeff to be a neurologist. Is that where everyone will go or will you go to the burbs?

 

 

 

WHere does your sis live?

[Dbld78]

THANK YOU ALL! for all your well wishes....it's so nice of you all! and thanks for the additional information...

 

i will have to have an mri as well.

 

my mom will be see a nuerologist at penn as well at the end of the month, and we'll have see what he says too. but so far it seems pretty positive considering her age and this being just diagnosed the outcome looks good!

 

but again thanks for all your thoughts and prayers you guys are very sweet and supportive. i just needed to vent a little and thought i'd put it out there.....

 

thanks!