There's no better way to kick off Neurofibromatosis Awareness month than to have a full schedule of MRI's, Chemotherapy, Xrays, blood tests, Neurologists, Ophthalmologists, ENT's and full on stress! :)
'NF' has taught me a lot, most importantly....that you can count on NOTHING! Predictability does not exist, when you are dealing with ANY disorder, not to mention, one whose variability is so extreme, like NF.
I have had many doctors try to tell me what to expect, and how things will turn out, only to have it go entirely a different way. No doctor...I don't care how much schooling or training, should ever label you or throw you into a box. EACH person should be treated according to THEIR needs, not some needs listed in a text book.
Take for example Bailey....15 yrs old, never had NF complications, except for learning challenges. Drs, had no reason to concern themselves (and I didn't either) that there was a tumor, silently growing on Bailey's auditory nerve.
After a HUGE fight with insurance, Bailey's first MRI, would result in a scurry of doctors trying to figure out what kind of tumor this is...and trying to convince me that it's THIS, when I know for a fact it's THAT! Textbook rules do not work all the time, and I'm tired of doctors doing this to us!
Bailey's 2nd and 3rd MRI would show the growth of another tumor, growing silently...causing no symptoms. This tumor is growing on the Corpus Collorum , and required immediate action. Bailey is now undergoing a year of chemotherapy...and Doctors are wondering why these tumors presented, without ANY symptoms. Without fighting, we still would have no idea there were ANY tumors!
Time to throw that NF Box away!
NF also took a swing at my 13 yr old son. After a few years of "clear" MRI's, his latest MRI showed a BRAND NEW Optic Gioma, and we also discovered NEW plexi forms growing on his spine and under his arm. This was after I BEGGED and BEGGED for an MRI, because Doctors didn't feel Braden was showing any symptoms and didn't require one.
Typically, Doctors stop screening for Optic Giomas after the age of 8....AGAIN, without fighting, We would have never known about Braden's new tumors, and would continue to be told, that Braden was exaggerating his pain.
Neurofibromatosis for me, would leave me undiagnosed until AFTER 5 of my children were born. The massive symptoms I was having, were "All in my head"....Gosh if those drs would have just listened to me...we would find out, literally....It WAS all in my head! Diagnosed with enlarged ventricles, a brain tumor and hydrocephalus at 34 yrs old!
Other symptoms continue to creep up....and unless I fight for what I need, I will NOT get it. A recent ultrasound of my leg....After thinking the pain I was having COULD be a blood clot, showed an APPLE SIZED plexiform tumor in my right leg.
But ALL the information out there, says you are born with plexiforms? That P;exis are typically diagnosed in childhood...What about ME!? What about Bailey? What about Braden? What about those parents who sit at home, relying totally on their own research?
This is NF Awareness Month. Let's get the word out about this very serious, yet way under talked about disorder!
Neurofibromatosis 1
The most common features of neurofibromatosis are the skin lesions called cafe au lait spots. These are flat, smooth, medium to light brown irregularly shaped spots than can occur anywhere on the skin. Many people have one or two cafe au lait spots, and these are often called birth marks. If a child has six or more cafe au lait spots measuring at least half a centimeter (about a 1/4 of an inch), then he or she should be monitored carefully to see if he or she develops any more signs of neurofibromatosis. A second skin symptom is freckling that appears in places not usually exposed to the sun like the armpit and groin.
After the age of three, many children will develop Lisch nodules in their irises (the colored part of the eye). These can be detected by an ophthalmologist using a special piece of equipment called a slit lamp. These growths do not affect vision.
Another symptom of the disease is the development of neurofibromas, soft fleshy tumors just under the skin. Neurofibromas can also develop deeper in the body. A neurofibroma can be large and have many finger-like projections, called a plexiform neurofibromas.
Most people with neurofibromatosis do not develop neurofibromas until puberty. Because neurofibromas can occur anywhere in the body, there are many possible complications from them. Sometimes these tumors can become malignant (cancerous) or they can affect vital organs. One complication is the development of a tumor, called an optic glioma, along the nerve going to the eye that can lead to blindness, unlike the Lisch nodule. A person can have a neurofibroma without having neurofibromatosis. Many neurofibromas, however, are indicative of neurofibromatosis.
Deformities of the bone are also associated with neurofibromatosis. For example, children can develop curvature of the spine (scoliosis) or an enlargement of a bone in the arms or legs leading to a leg length discrepancy. Other bony defects can be bowed legs and thinning or absence of the bones forming the eye socket. A large head is also sometimes associated with neurofibromatosis.
Approximately half the people with neurofibromatosis have learning disabilities, including attention deficit disorder (ADD), ranging from mild to severe. Learning disabilities are about five times more common in people with neurofibromatosis than in those without the disease.
Neurofibromatosis Type 2
In Neurofibromatosis Type 2, there are not as many physical signs of the disease. People with Neurofibromatosis Type 2 do not have multiple café au lait spots, Lisch nodules, or bony deformities. They may have a few café au lait spots, however. People with Neurofibromatosis Type 2 have a kind of tumor called a neuroma or schwannoma. These tumors affect the nerves that are responsible for hearing and balance. The first sign of the disease is often ringing in the ears (tinnitus), hearing loss, or difficulty with balance when a person is in her teens or twenties. Although only one ear may be affected initally, eventually both ears will be affected in most people. About 90 percent of people with Neurofibromatosis Type 2 will develop these tumors in their lifetimes. These tumors can occur anywhere in the body.
In addition to schwannomas, patients with Neurofibromatosis Type 2 are at risk for other types of tumors, called gliomas and meningiomas, that are found in the brain. These tumors are usually not cancerous in that they are not likely to spread to other parts of the body, but they can cause significant problems depending on where they are located. People with Neurofibromatosis Type 2 are also at risk for a particular kind of cataract that makes vision cloudy or dim.
Please---If YOU or someone you love is affected by Neurofibromatosis, talk about it! The best way you can help, is to spread the word!
Kristi--Always here, always fighting for treatment/cure!
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