What is NFormation?

This is NFormation - a website about selected aspects of the human genetic disorder, Neurofibromatosis Type 1 (NF1), and the NF1 gene.

At its inauguration in the Spring/Summer of 2015, NFormation is for the pleasure and assistance of persons with selected specific questions or concerns about NF1. NFormation provides facts and ideas that may help persons with NF1 and/or their family members to minimize the disorder's impact.  It is important to recognize that the material presented and emphasized in NFormation is supplemental to more general and traditional sources available elsewhere. 

Ultimately, NFormation does and will introduce and develop themes and concepts beyond NF1.  At least in part, this approach respects the basic premise that  the NF1 syndrome and the NF1 gene are relevant to everyone: the NF1 syndrome and the NF1 gene yield facts and concepts with multiple universal applications.

Beyond specific NF1-related clinical, cell biology and genomic elements, ultimately NFormation will also host broader topics.  Among these are:
           the Origin of Life
            the Praxitype as a new way to explain genomic organization and function
            the arcane subject of female sexuality and Human Urethrovaginal Glands 


Approaching Your Physician with Your NF1 Knowledge

By definition, NF1 is a rare disease.  Most physicians have few, if any, NF1 patients. Expecting all physicians to know even the basics of NF1 is likely unrealistic.  Similarly, expecting a large percentage of physicians to know the details of NF1 diagnosis and management may also be unrealistic.  Nonetheless, the NF1 community with their acquired knowledge can and should now approach their physician with two goals in mind:

• optimized care for the current NF1 patient;
• enhance the clinical skills and abilities in anticipation of future NF1 patients.

The modern NF1 patient/parent likely already knows a great deal about NF1 based on personal observations and experience, attending NF1 forums and reading material from books and websites.  In the early 21st Century, an NF1 patient/parent becomes slightly or moderately expert within weeks or months of the NF1 diagnosis.  By the time of even early follow-up and/or the appearance of new problems, the patient/parent may already be an NF1 expert to some degree. My point is not merely to acknowledge this already well-established fact but to exploit it.

Rather than presume it is the physician who enlightens the patient, we must recognize and build upon the increasingly prevalent opportunities to enlighten and partner with the physician.

One way of building upon this general notion to consider one set of NF1 elements that combine common problems and concerns (e.g., neurofibroma progression and associated symptoms) with controversy  (e.g., treatment possibilities for anticipated and/or progressive neurofibromas).

What if  patient/parent queries lead to more than a shrug of the shoulders acknowledging ignorance or indifference?  Does the physician even know what the basic concerns and options are?  What if the questions lead to a physician obtaining or learning new information, perhaps establishing new partnerships and anticipating the needs of future NF1 patients?

At the present time, the physician perceives no benefit from looking into the prospect of mast cell stabilizing treatment of NF1.  Thoughtful, direct questions may change that.


Here is a set of questions that make the point.

Doctor, do we know if I/my child have/has NF1?

Doctor, what do you know about the about the importance of mast cells in NF1?

Doctor, what do you know about how mast-cell-stabilizing drugs - such as ketotifen, cromolyn or tranilast - might possibly influence NF1 neurofibromas? 



The Next Step in NF1 neurofibroma progression may involve NEW choices

will emphasize information about selected NF1 elements, including the minimization of the NF1 neurofibroma burden (NNB).

Currently, routine management of NF1 is limited to minimizing the consequences of already-established, symptomatic lesions.  Here, we emphasize preemption of neurofibroma progression.  

NFormation purports that one can choose between AVOIDING POTENTIAL PROBLEMS and REVERSING ALREADY ESTABLISHED PROBLEMS.  There are new choices.

The photos shown to the right represent alternatives of NNB progression.  It may be possible to choose between them.


Something could be done. It has been done.

You Choose
Click photo to see why.