Neurofibromatosis

Many people have asked me to explain Neurofibromatosis 1 so I decided I would write about it. For starters:

How does someone get neurofibromatosis or NF1?

A person receives NF1  one of two ways. Either one or both parents has  a NF effected gene on chromosome 17; and have genetically passed down the abnormal gene to their child. In this circumstance if one parent has the abnormal gene 50% of all of their children could inherit the abnormal gene.  The other way is that a genetic mutation happened during the child's creation. NF1 effects both sexes and all races.

What is NF1?

NF1 is a genetic disorder that is characterized by several symptoms. This disorder causes tumors to grow along the nerves through out the body. These tumors along other parts of the body can cause various side effects depending on its location. Some tumors are just watched as they cause no harm and some are removed. Other side effects of having NF1 are varying degrees of the following. Every person looks different no two cases develop the same way, some people never realize they have NF1 because of the lack of symptoms.

Side Effects/Symptoms


Cafe'-au-lait spots: Typically 6 or more before age five .5cm in diameter -These are brown oval spots on the skin the color of creamed coffee.
Benign Neurofibroma: Soft tumors on or under the skin (some of these can cause problems with organs but they do not have to.)
Plexi Neurofibroma: Large tumors that can change the shape of that part of the body and can effect organs. Sometime these can be cancerous.
Lisch nodules: spots on the iris these are harmless and do not effect vision they are simply like freckles
Physical growth: Shorter, slightly larger heads, affects growth of bones, shrinkage of bone (atrophy), bending or fracture of long bones that won't heal (pseudarthrosis), curvature of the spine (scoliosis)
High Blood Pressure
Dental Caries
Early or Delayed Puberty
Headaches 
Hearing difficulties
Tumors along nerves anywhere in the body
Bright Spots- Spots found on MR Scans that aren't brain tumors
Random Changes in the body no one can predict. 
Optic glioma: a growth on the nerve to the eye
Freckling: under arm or in groin region

Perceptual Ability Difficulties: judgement of placement of lines and objects, copying accurately, poor visual orienting,  Mistakes reading =/+/x/ -/, Visual information overload, Poor learning Memory of non verbal info., difficulty matching shapes, reversing, rotating, omitting  of letters numbers, words and sentences, E is seen as 3 w as m., 

Executive Functioning Deficits: Challenges in problem solving, abstract concept formation, planning and organizing, shifting attention, monitoring their behavior, something that requires a certain amount of mental flexibly

Behavioral Challenges: ADHD, Short attention Span, Hyperactivity, Oppositional behaviors
Verbal and Non-Verbal Learning Disabilities
Social issues: Social isolation, poor peer relationships, diminished self-esteem, difficulties with anxiety and depression
Poor Fine Motor Skills: poor hand writing
Poor Gross Motor Skills: clumsiness
Poor Articulation, Language Delays and Oral Motor deficiencies 

What can you do?


If you suspect that your child has NF discuss it with your family doctor or pediatrician. Many doctors have limited knowledge on NF and will most likely refer you to a NF specialist or to a dermatologist, geneticist, and ophthalmologist. Once you have seen one or several of the above and have determined that your child does have NF they will most likely set you up on a schedule for seeing the doctor. It is typically recommended that you see an ophthalmologist and a NF specialist clinic once a year and your regular family doctor 6 months after that. This way your child will be watched every 6 months. If your child is showing a more aggressive form of NF there may be additional tests they will want to do such as MRI or x-rays or genetic testing. There are various approaches out there on how to monitor and deal with NF. Some are big on testing while other are not. The best thing here is learn what your options are from your doctors as well as personal research and/or second opinions. You will also want to take into account what the side effects are of the proposed tests and research for your self don't just blindly follow what a doctor might be telling you. Your personal research and getting various opinions is what will give you the power to make the best choices for your family. Depending on how much outside involvement you want there are many options for therapies (fine/gross motor, speech, behavioral etc.). Many times you can get additional help thru school programs. If you are a home schooler also look into independent programs. Also look into if your state has special funding for children's with special needs. Michigan has Children's Special Health Care Services that will help with costs until child is 20.

One thing to decide as well is the timing of diagnosing your child with NF. I have heard of children/adults having a harder time getting insurance or the rates being astronomical. If the case is mild and not effecting your child in a major way working with your care providers to watch and see might be the best approach. This also allows your child not to grow up with the stigma of having a special need. Each child and situation is different and only you can decide what is best for your family.

What are things that can be done at home?
Encourage strong keyboarding skills
Make sure Child sits close to the teacher or work area
In Reading, slow the child down reading carefully
Give the child information verbally as well as visually
Teach phonics instead of memory for reading
Have the child track what he/she is reading with their finger
Make sure schoolwork is neat and clear
Use large text well spaced
Introduce vocab within context of reading.
Find well organized educational books with bold titles, easy charts, to the point
Using educational materials on tape will also be a great resource
Raised lined paper
Highlight things on a page the child needs to pay special attention to such as math signs or punctuation
Teach the child to use calendars, organizational notebooks to keep track of tasks,
Organize subjects based on color,
See if your school will allow you to keep a set of books at home (this will minimize the forgotten homework as well as seeing if homework can be emailed home),
Break projects down into smaller tasks

Try allowing a child to draw or fidget to distract themselves so they can focus on what they are listening to.  This may include something that interests them.  This secondary tasks allows them to be less distracted while listening to whomever is speaking. For some children trying to just listen can become boring quickly which allows them to be distracted. This distraction then allows them to daydream and tune everything else out.  The act of "doing something" lessens the chance of becoming bored and minimizes the type of daydreaming that tunes everything out.

A final thing that can be very helpful with many childhood disorders is diet. The typical American diet is missing the nutritional value that these young minds require. It also is chocked full of foods that are harmful to the body. I would encourage any family that is facing any of the above symptoms because of NF or not related to NF to try some or all of the following. Do research on the below and you might find some amazing information.

• Cut out all White flour, White Sugar and White Rice - every time you consume one of these products it strips your body of nutrients and minerals. (100% not enriched Organic Whole Wheat, Rapadura, and Brown Rice comes with these nutrients and minerals to process themselves in your body)
• Cut out the corn syrup-Use raw honey or organic rapadura or stevia as a sweetener
• Go Gluten free (many Americans have intolerances ranging from small to large to gluten. It can effect many areas of the body and has been said to be able to break the brain barrier. For some this may be a lifetime change while others may need several months to heal their gut. Research Leaky Gut Syndrome)
• Limit bakers yeast or preferably only use Wild Yeast Cultures
• Eat Organic as much as possible or at a minimum stay away from all GMO (genetically modified organism) foods. These have been genetically altered and the side effects have not yet been discovered. 
• Buy hormone free antibiotic free meats and milk products- since tumors can grow and be affected by hormones in-taking large quantities of hormones is not a good thing for any of our bodies.
• Limit Soy or eliminate it all together- soy looks like estrogen in the body. The more soy we eat the more we are creating additional hormonal effects on the body. Menopausal woman really are the only ones who should consume soy because of its effects. 
• Taking additional Omega 3-6-9 and Trace Minerals and Vitamins can also benefit. Try to get your vitamins from a plant source/meat source not a chemical source. 

Now what?


Don't panic...lol, I know that is a moms first response. Best thing to do is educate yourself. Learn about NF and what the side effects are. Decide how you want to approach this. In our house we have decided to approach it as if she was like every other kid. We expect her to do he absolute best she can. We want her to push herself and surprise herself. We want to teach her to use her weaknesses as strengths. She has the opportunity to see the world in a way only she can. She will work through whatever challenges she may face and they will make her stronger. She will have the gift of experience that she can use to help others in similar situations. She will learn to use her brain untraditionally to learn differently than the rest. She will learn the how to use her weaknesses as gifts.

2 Corinthians 12:9-10 But He said, "My grace is sufficient for you, for my power is made perfect in weakness." Therefore I will boast all the more gladly about my weaknesses, so that Christ's power may rest on me. That is why for Christ's sake, I delight in weaknesses, in insults, in hardships, in persecutions, in difficulties. For when I am weak, then I am strong

Websites and Contact Info:

• Neurofibromatosis Support Group Of West MI
• Rosemary Anderson -616-451-3699 or nfwestmich@aol.com
• www.nfsupport.org
• http://www.med.umich.edu/yourchild/topics/neurofib.htm
• http://www.dukechildrens.org/services/neurofibromatosis
• Children's Special Health Care Services
• 800-359-3722
• PO Box 30479 Lansing, MI 48909-7979
• Hours Mon-Fri 8-5
• www.michigan.gov/cshcs
• www.mercola.com
• http://www.naturallyknockedup.com/2010/09/07/silent-cause-of-infertility/
• http://www.naturallyknockedup.com/2010/09/07/silent-cause-of-infertility/
• http://www.responsibletechnology.org/
• http://www.facebook.com/group.php?gid=2584180691&ref=ts