Monday, March 8, 2010
Two of Abigail's more prominent cafe au lait spots.
1.NF has been classified into three distinct types; NF1, NF2 and Schwannomatosis. They are caused by different genes, located on different chromosomes.
2.Abigail has NF1, located on her 17th chromosome.
3.NF1 is not a rare disorder, it is the most common neurological disorder caused by a single gene.
4.NF1 is the more common form of NF, occurring in 1:3,000 births throughout the world.
5.This means in the city we live in with approximately 60,000 people, there are 20 people with this disorder.
6.The Neurofibromatoses are genetically-determined disorders which affect more than 100,000 Americans.
7.NF is more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.
8.I find this statistic amazing, due to the fact that nobody has heard of NF, and everyone has heard of the other disorders listed.
9.All forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new or "spontaneous mutation" (change) in the sperm or egg cell.
10.Each child of an affected parent has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family.
11.This means we will some day have to explain to Abigail the "risk" involved in her choosing to have biological children.
12.NF is worldwide in distribution and affects both sexes equally and has no particular racial, geographic or ethnic distribution. Therefore, NF can appear in any family.
13.Although most cases of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain and spinal tumors; loss of limbs; malignancies; and learning disabilities.
14.NF1 also has a connection to developmental problems, especially learning disabilities, which are five times more common in the NF1 population than in the general population.
15.NF is not the "Elephant Man's Disease," although it was at one time believed to be. Scientists now believe that John Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.
16.You must have two of the following criterea to be diagnosed (without genetic testing).1.Family history of NF1 2.6 or more light brown ("cafe-au-lait") spots on the skin 3.Presence of pea-sized bumps (neurofibromas) on the skin 4.Larger areas on the skin that look swollen (plexiform neurofibromas) 5.Freckling under the arms or in the groin area 6.Pigmented bumps on the eye's iris (Lisch nodules) 7.Skeletal abnormalities such as tibial dysplasia (bowing of the legs), or thinning of the shin bone 8.Tumor on the optic nerve that may interfere with vision .
17.As of right now Abigail has way more than 6 cafe au lait spots, and freckling. She has been officailly diagnosed.
18.Some other things that can be more common in NF: disfigurement(from tumors), scoliosis, learning disabilities, macrocephaly(large head)that may or may not be due to hydrocephalus, optic gliomas(tumors), congenital defects of bones, high blood pressure, early or late puberty, problems with growth (too short or too tall), mental retardation, epilepsy, higher risk for certain rare malignancies in tumors, brain tumors, stroke, itching of skin, hormonal effects, and a rare childhood lukemia called jmml. (This list in nowhere near exhaustive.)
19.Nobody has all of these effects. Most of them are rare, but still possibilities.
20.From that list Abigail has macrocephaly, and problems with growth.
21.Not on that list that Abigail also has are noonan syndrome facial features, and low muscle tone.
22.NF1 is considered progressive. This does not mean it will one day kill people who have it. It means, in general, that more symptoms show up over time. So even people who have a mild case at 40 most likely have more symptoms than they did at 5.
24.NF can kill you.
25.There is no treatment or cure for NF.
26.There are some treatments for the tumors, scoliosis, etc. that occur with NF.
27.NF tumors are not the same as those in the general population, and require different treatments. Things like radiation can cause them to grow.
28.NF has no indicators of how bad it will be. It must be taken one day at a time and dealt with as things come up. You can never rest in the fact that things are stable or will only get better from here.
29.Our daughter having NF has affected Jason and I in very different ways.
30.No matter what the future holds, God knows, and that's what we must learn to rest in.
I really wanted to get more facts out there because so many people ask so many questions. All of the information was taken from www.ctf.org. Families affected by NF seem to be the only ones who know much about it. Even the medical community, outside of doctors who treat specific aspects of it, seem not well informed, or misinformed. You will come across a doctor here and there who knows about it, or who is willing to research it. You will also come across doctors in the e.r. who ask you where the tumors are, or the one who said about my daughter "don't you wish it was like a puppy you could give back." It's important for these reasons for us to know the facts, and to know who God is.
Hoping you are feeling a little more educated,