You get the diagnosis and begin dealing with your new life as a person with Neurofibromatosis. Family, friends, co-workers begin to ask questions. You ask yourself the same questions: "How are you holding up?" The answer varies, truly, as much as the weather here in Texas. Downpour and tornado warning one day and sunny, breezy the next. Your body can switch like *that,* a lightning bolt spasm that makes you jump in your chair during dinner or flail and jump from the shooting pains you get every night at bedtime. It's a nightmare day and night at times.
So, before I tell any more tales about my NF experiences, I thought it made sense to give a tutorial of sorts (Don't leave! This is good, important stuff! Promise.) to help those who may not know about NF and for those family members and patients that need a reference guide or a refresher course. Awareness is key and knowledge is power, right? :)
My first answer to the headline question (So What the Heck is NF?) is don't ask Oprah Winfrey.* Second, it's not something you can answer in 2-3 sentences. And no, this isn't a razzle-dazzle fun post but it is a very important one because it gives insight into patient symptoms and promotes awareness of a condition that is rarely, if ever, talked about in families, in the media, in politics, or on Main Street. We need to change that.
*Oprah Winfrey spotlighted NF on her show and ended up getting the facts mixed up and telling
her millions of viewers false information about the genetic disorder. FYI: It is not the
Elephant Man's Disease, Ms. Winfrey.
NF 101 In Session
Cases of Neurofibromatosis are as varied and unique as the patients living with the genetic
disorder. Some cases are non-symptomatic or mild while others can be the complete opposite.
Family members can be similar in the type(s) of symptoms they share or vary greatly. NF can also show up spontaneously without any family history, and we will discuss that more in a minute.
Key: NF patients can have tumors on the inside of their bodies that press on nerves causing pain from mild to severe. Other NF patients have tumors, on the outside, on top of the skin,
often protruding and causing deformities. Patients with internal tumors can have troublesome growths removed surgically but this can lead to nerve damage and also deformities of varying proportions.
NEUROFIBROMATOSIS
Encompasses a set of distinct genetic disorders (NF 1, NF 2, and Schwannomatosis) that causes
tumors, often benign (but not always), to grow along the nerves of the human body. Anywhere a
nerve is, a tumor can grow.
Key: NF can affect the development of bones and skin.
Key: NF can be inherited by a parent (50-50 chance) or maybe the result of a mutation in the
sperm or egg cell. www.ctf.org
Spelling Out A Diagnosis
Neuro*Fibro*Ma*Tosis
Or....
Neuro*Fibro*My Toe is Aching!
Or...
Neuro*Fibro*Ma (To Her Daughter): Find a Cure
I've made all the fun I want from a word and condition I want nothing to do with ever again
but am stuck with eternally until there is a cure.
Key: There is no cure for Neurofibromatosis.
Over two million (that doesn't include loved ones, caregivers, friends, etc.) people are
affected by NF across the globe. I find it staggering especially when fellow patients can' find the medical care (specialists) they need. NF is more prevalent than cystic fibrosis, Duchenne muscular dystrophy and Huntington's Disease combined. www.ctf.org
Amazing, huh?
Profile of NF 1
Called von Recklinghausen or Peripheral NF
1) One in every 3,000 births
2) Patients with NF 1 may have: blindness; disfigurement; dermal, brain, and spinal tumors; loss of limbs; cancerous growths; and learning disabilities.
3) Fifty percent of NF 1 patients have learning disabilities. The potential for learning
challenges is five times more common in the NF 1 community than in the general population.
A patient may show no signs or symptoms or 1-2 of the above. It is not an all or nothing
scenario with NF patients. Each person dealing with this condition has his/her own set of
challenges and difficulties, whether it is blindness, surgeries, or spinal growths.
Profile of NF 2
Called Bilateral Acoustic NF (BAN)
1) One in every 25,000 births
2) Patients may experience multiple growths on the cranial and spinal nerves.
3) Patients usually deal with tumors on their auditory nerves that affect hearing. Loss of
hearing in the teens and 20s is the tell-tale sign of NF 2.
4) Patients must deal with an increased risk of nervous system tumors.
5) Patients can have vision difficulties, including orbital tumors and cataracts.
6) For a person with NF 2, tumors grow on the eighth cranial nerve in both ears.
Schwannomatosis
Most recently identified
1) One in 40,000 births
2) Eighty-five percent of Schwannomatosis cases are sporadic with no previous family history and 15 percent of cases are inherited.
3) Chronic pain is usually the first sign of Schwannomatosis. It usually outweighs any neurological challenges. www.ctf.org
4) Patients do not typically develop canerous tumors.
5) About one-third of people living with Schwannomatosis have what is called Segmental
Schwannomatosis. Tumors are limited to a single part of a patient's body, i.e. section of
spine or right arm.
Neurofibro-get-your-tosis-together-and-get-out-of-my-body
I don't know know how many times I've said it or how many more times in the future, but at
least there is hope...FOR A CURE! Physicians are working. Researchers are working. Even some
patients are doing their part fund-raising, creating awareness in their own personal ways. We
fight through pain, exhaustion, the looks and stares, the side-effects of pills and the side-effects of NF.
Neurofibromatosis is here now... But NOT forever!
To donate to the Children's Tumor Foundation, Ending NF Through Research, go here.
©The Healing Redhead
So, before I tell any more tales about my NF experiences, I thought it made sense to give a tutorial of sorts (Don't leave! This is good, important stuff! Promise.) to help those who may not know about NF and for those family members and patients that need a reference guide or a refresher course. Awareness is key and knowledge is power, right? :)
My first answer to the headline question (So What the Heck is NF?) is don't ask Oprah Winfrey.* Second, it's not something you can answer in 2-3 sentences. And no, this isn't a razzle-dazzle fun post but it is a very important one because it gives insight into patient symptoms and promotes awareness of a condition that is rarely, if ever, talked about in families, in the media, in politics, or on Main Street. We need to change that.
*Oprah Winfrey spotlighted NF on her show and ended up getting the facts mixed up and telling
her millions of viewers false information about the genetic disorder. FYI: It is not the
Elephant Man's Disease, Ms. Winfrey.
NF 101 In Session
Cases of Neurofibromatosis are as varied and unique as the patients living with the genetic
disorder. Some cases are non-symptomatic or mild while others can be the complete opposite.
Family members can be similar in the type(s) of symptoms they share or vary greatly. NF can also show up spontaneously without any family history, and we will discuss that more in a minute.
Key: NF patients can have tumors on the inside of their bodies that press on nerves causing pain from mild to severe. Other NF patients have tumors, on the outside, on top of the skin,
often protruding and causing deformities. Patients with internal tumors can have troublesome growths removed surgically but this can lead to nerve damage and also deformities of varying proportions.
NEUROFIBROMATOSIS
Encompasses a set of distinct genetic disorders (NF 1, NF 2, and Schwannomatosis) that causes
tumors, often benign (but not always), to grow along the nerves of the human body. Anywhere a
nerve is, a tumor can grow.
Key: NF can affect the development of bones and skin.
Key: NF can be inherited by a parent (50-50 chance) or maybe the result of a mutation in the
sperm or egg cell. www.ctf.org
Spelling Out A Diagnosis
Neuro*Fibro*Ma*Tosis
Or....
Neuro*Fibro*My Toe is Aching!
Or...
Neuro*Fibro*Ma (To Her Daughter): Find a Cure
I've made all the fun I want from a word and condition I want nothing to do with ever again
but am stuck with eternally until there is a cure.
Key: There is no cure for Neurofibromatosis.
Over two million (that doesn't include loved ones, caregivers, friends, etc.) people are
affected by NF across the globe. I find it staggering especially when fellow patients can' find the medical care (specialists) they need. NF is more prevalent than cystic fibrosis, Duchenne muscular dystrophy and Huntington's Disease combined. www.ctf.org
Amazing, huh?
Profile of NF 1
Called von Recklinghausen or Peripheral NF
1) One in every 3,000 births
2) Patients with NF 1 may have: blindness; disfigurement; dermal, brain, and spinal tumors; loss of limbs; cancerous growths; and learning disabilities.
3) Fifty percent of NF 1 patients have learning disabilities. The potential for learning
challenges is five times more common in the NF 1 community than in the general population.
A patient may show no signs or symptoms or 1-2 of the above. It is not an all or nothing
scenario with NF patients. Each person dealing with this condition has his/her own set of
challenges and difficulties, whether it is blindness, surgeries, or spinal growths.
Profile of NF 2
Called Bilateral Acoustic NF (BAN)
1) One in every 25,000 births
2) Patients may experience multiple growths on the cranial and spinal nerves.
3) Patients usually deal with tumors on their auditory nerves that affect hearing. Loss of
hearing in the teens and 20s is the tell-tale sign of NF 2.
4) Patients must deal with an increased risk of nervous system tumors.
5) Patients can have vision difficulties, including orbital tumors and cataracts.
6) For a person with NF 2, tumors grow on the eighth cranial nerve in both ears.
Schwannomatosis
Most recently identified
1) One in 40,000 births
2) Eighty-five percent of Schwannomatosis cases are sporadic with no previous family history and 15 percent of cases are inherited.
3) Chronic pain is usually the first sign of Schwannomatosis. It usually outweighs any neurological challenges. www.ctf.org
4) Patients do not typically develop canerous tumors.
5) About one-third of people living with Schwannomatosis have what is called Segmental
Schwannomatosis. Tumors are limited to a single part of a patient's body, i.e. section of
spine or right arm.
Neurofibro-get-your-tosis-together-and-get-out-of-my-body
I don't know know how many times I've said it or how many more times in the future, but at
least there is hope...FOR A CURE! Physicians are working. Researchers are working. Even some
patients are doing their part fund-raising, creating awareness in their own personal ways. We
fight through pain, exhaustion, the looks and stares, the side-effects of pills and the side-effects of NF.
Neurofibromatosis is here now... But NOT forever!
To donate to the Children's Tumor Foundation, Ending NF Through Research, go here.
©The Healing Redhead
