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NF Canada (fr/en)
NF Canada's mission is to ensure that all Canadians enjoy with neurofibromatosis support, understanding, appropriate medical treatment and hope for a cure for the future.
The NF Society of Ontario (en)
The NF Society of Ontario is a charitable non-profit organization for individuals and families across Ontario.
British Colombia Neurofibromatosis Foundation (en)
BCNF, a charitable non-profit organization for individuals and families throughout British Columbia and western Canada.
Children's Tumor Foundation (en)
The National Neurofibromatosis Foundation Inc.. Organisme qui a Ă©tĂ© fondĂ© en 1978 par des patients et des scientifiques pour les patients et les familles. Organization that was founded in 1978 by patients and scientists to patients and families.
Neurofibromatosis, Inc. (en)
NF, Inc. is an organization that was formed independently in different groups, which offers support services to families and NF [...]
Technical NF1 site (CHU Rouen)
The NF2 Crew Web site (en)
Support group online social references and discussion for people with NF2
L'article des Drs Rouleau et Rioux, que nous reproduisons ici, a Ă©tĂ© publiĂ© dans la revue LE SPĂ‰CIALISTE (mars 2004) publiĂ©e par la FĂ©dĂ©ration des mĂ©decins spĂ©cialistes du QuĂ©bec (FMSQ). Il porte sur la NF1.
La revue est accessible en ligne Ă l'adresse suivante : www.fmsq.org. Sous la rubrique Publications. Nous remercions la FMSQ pour nous donner l'opportunitĂ© de reproduire cet article.
Further to certain questions raised by some of our members, our President requested the opinion of the RĂ©gie de l'assurance maladie du QuĂ©bec [Quebec Health Insurance Board] on the question of insured services in cases of surgery for the removal of cutaneous, or surface, neurofibromas. Dr. Huguette Vigeant, a consulting physician with the Service de l'expertise mĂ©dicale, dentaire et optomĂ©trique [medical, dentistry and optometry assessment services] of the Board, communicated the information concerning the remuneration of physicians under the circumstances submitted by the ANFQ.
As the information provided by the Board is formulated in professional and technical terms, Dr. Vigeant accepted that we communicate it to you in a more accessible language, avoiding uncommon terms and expressions. She agreed to revise our version, and this version was approved by the Director, Professional Affairs.
Small glossary applicable to neurofibromatosis that could be useful in comparing the languages:
The Board's reply was drawn from three documents: the Health Insurance Act (and the Regulation respecting its application), the Entente des mĂ©decins omnipraticiens [general practitioners' agreement] and the Entente des mĂ©decins spĂ©cialistes [medical specialists' agreement].
Pursuant to section 3, insured services are services rendered by a physician that are medically required. The removal of benign tumours, such as cutaneous or surface neurofibromas, is an insured service (payable to the physician by the Board).
Section 22 of the Regulation respecting the application of the Health Insurance Act lists the services that "... shall not be considered as insured services for the purposes of the Act", that is, for which the physician can request remuneration from the patient, in paragraph (c): "any service provided for purely esthetic purposes."
A few of our members told us that certain physicians asserted to them that the removal of cutaneous, or surface, neurofibromas that did not cause any pain or discomfort is a service provided for "purely esthetic purposes" and not covered by health insurance. However, the Board is of the opinion that a neurofibroma is a tumour and, consequently, its removal is an insured service, for which the physician is remunerated by the Board and cannot exact any payment whatsoever from the patient.
In fact, another section of the Health Insurance Act (section 22) prohibits any physician who provides an insured service from claiming remuneration from the patient for the provision of the service or for practice fees, other than those provided for by his/her agreement (see below).
(dermatologists, general surgeons, neurosurgeons, plastic surgeons or others, as applicable)
Version drafted by Alfred Dubuc, for the ANFQ
by Dre Cantin, F. Lussier Ph.D., and Dre Ortenberg.
The following are summaries of a few of the lectures delivered at Sainte-Justine Hospital and the MontrĂ©al Children's Hospital during the past year. The lectures were presented by the ANFQ in view of informing you about various topics related to neurofibromatosis.
I would also like to offer you my best wishes of joy, peace and health for Christmas and the New Year.
HĂ©lĂ¨ne L. PĂ©russe
Summary of the lecture delivered by Dr. Marie-AndrĂ©e Cantin, Pediatric Orthopedic Surgeon at Sainte-Justine Hospital
This lecture entitled "Orthopedics and Neurofibromatosis: Beyond Foot Care" took place at Sainte-Justine Hospital on June 8, 2000, on the occasion of the annual meeting of the ANFQ.
Dr. Cantin started the evening very nicely by giving us a broad overview of the history of medicine from its beginnings until today, from the time of Hippocrates, who seems to have been one of the first to speak of the discipline of surgery, until 1740, when a French doctor named Nicolas AndrĂ© was reportedly the first to have introduced the term "orthopedics".
Then, Dr. Cantin continued by explaining how a student in medicine goes on to become an orthopedic surgeon, that is, a bone, muscle and articulation specialist.
In addition to the 4 to 5 years of training to receive the title of doctor, there are 5 years of postdoctoral training, followed by 1 to 2 years of supplementary specialization.
An orthopedic surgeon usually works 50 to 60 hours a week, giving clinical consultations, performing operations, sometimes doing research or teaching, and occasionally accomplishing administrative tasks.
Throughout her lecture, Dr. Cantin used many slides and transparencies to complement her remarks.
She went on to explain that neurofibromatosis is a disorder of the cells that affects multiple systems: skin, peripheral nerves, brain, suprarenal glands and others...
Among the orthopedic symptoms, there may be bone abnormalities, such as scoliosis, tibial pseudoarthrosis and sphenoid dysplasia.
In the case of scoliosis (S-shaped curvature of the spine), it may go from being hardly noticeable to warranting surgery when the curvature exceeds 30 degrees. Treatments for scoliosis may therefore go from wearing an orthopedic corset to undergoing surgery.
Family physicians can examine their patients' back during their annual check-up and, depending on the seriousness of the case, decide to refer them to a specialist.
As for pseudoarthrosis affecting long bones (generally the tibia), treatments can range from a simple protective device (orthosis) to surgery in order to straighten the bones and, in the most severe cases, amputation. This abnormality, for reasons unknown, seems to affect mostly boys. Dr. Cantin specified that, usually, long bone problems are present at a very young age. There is very little risk that the problem will suddenly appear if it has not been detected before the age of 7 years.
Throughout her lecture, Dr. Cantin answered questions from the audience and seemed to meet the expectations of the members in attendance who greatly appreciated her enthusiasm for her profession.
Summary of the lecture delivered by Dr. Francine Lussier, Neuropsychologist at Sainte-Justine Hospital
This lecture entitled "The Neuropsychological Evaluation of the Child and the Teenager with Neurofibromatosis" took place at Sainte-Justine Hospital on March 15, 2000.
Neuropsychology studies the relations between superior psychological functions (reasoning and behaviour) and brain structures.
A neuropsychological evaluation may be necessary for children at the beginning of elementary or high school to enable the medical and teaching communities to better understand how they function in order to take more effective action with them.
A neuropsychological evaluation serves to assess various elements including:
Dr. Lussier specified that levels of intellectual functioning should not be an end in themselves. An evaluation requires an average of 14 to 15 hours of work, including the time to evaluate the child or teenager, then to analyze and compile the observations, and finally to hand over the evaluation to the parents.
In the case of neurofibromatosis, it is often said that visuo-spatial (non-verbal) functions seem to be more affected than verbal functions.
There are various non-verbal dysfunctions:
Children with neurofibromatosis usually find their true strength in their verbal skills, although there may also be verbal disorders such as dyslexia or dysorthography.
Language deficiencies can also be of different natures:
Dr. Lussier ended by insisting on the fact that a neuropsychological evaluation is essentially a working tool and an inventory of a child's skills.
This evaluation should help attending physicians, teachers and parents put all the necessary tools on their side to ensure the well-being of the child.
Hospitals unfortunately have long waiting lists (shorter but more expensive in private facilities), and Dr. Lussier diplomatically recommends that parents call on authorities and protest for the release of the necessary funds and even approach the ombudsman of the hospital concerned to get the help that is essential to all our children.
Summary of the lecture delivered by Dr. June Ortenberg, Pediatrician at the Neurofibromatosis Clinic of the MontrĂ©al Children's Hospital
This lecture, entitled "Overview of Neurofibromatosis", took place at the MontrĂ©al Children's Hospital on October 18, 2000. It was delivered in English, but the question period was both in English and French.
Dr. Ortenberg mentioned that she was very pleased to be able to take part in the series of lectures presented by the ANFQ, especially since the Neurofibromatosis Clinic of the MontrĂ©al Children's Hospital and the ANFQ were founded almost at the same time. She was present for the foundation of the ANFQ by Suzanne GuĂ©vremont-Cloutier in 1989.
She also indicated that she was very enthusiastic about some new very promising developments concerning neurofibromatosis thanks to the cooperation of the different research centres.
Dr. Ortenberg made a point of specifying that, although they partly share the same name, neurofibromatosis type 1 and neurofibromatosis type 2 are two separate disorders originating in two different chromosomes. She focused her presentation on neurofibromatosis type 1.
Throughout her address, she used many slides to explain the progress of the research: the discovery of the gene in 1987, the discovery of the neurofibromin protein in 1991 and the evolution of the research until today.
There is a great deal of research currently under way on the neurofibromin protein, as it has been discovered that this protein helps neutralize or "block" the formation of tumours. When there is little or none of this protein in the system, tumours can form throughout the nervous system (among other areas).
Research has also demonstrated that it is highly likely that one or more other "cooperating" genes may be at the origin, with chromosome 17, of neurofibromatosis.
Since the disorder may result from a spontaneous mutation (50% of cases) or a hereditary mutation (50% of cases), it is important, when a child is diagnosed, that the parents also be examined, especially in the areas of dermatology and ophthalmology.
While the disorder may be hereditary in some cases, Dr. Ortenberg specified that it is a myth that the disorder gets worse from one generation to the next. Prenatal tests are still not very predictive, with a margin of error of up to 30%. At least, it will be possible to learn if a child will have neurofibromatosis, but not the future level of complications.
It should be pointed out, though, that over 2/3 of people with neurofibromatosis type 1 have few major complications.
It should also be noted that a person with the disorder must present at least two of the following neurofibromatosis diagnostic criteria identified in 1984 (by the National Institute of Health, Bethesda, Maryland, USA):
Good medical follow-up care (neurology, ophthalmology, dermatology, orthopedics, etc.) remains important, and parents are always the best allies and defenders of their child.
At the end of her presentation, Dr. Ortenberg answered questions from the audience, and one question in particular retained her attention:
What should be expected after the diagnosis, especially in the case of a very young child? Parents are often unprepared, concerned and frequently feel helpless.
This wait-and-see feeling can be very difficult. The bright side is that, with certain complications, if they have not appeared at a young age, they will most likely never occur.
For example, optic gliomas, even though they are present in many children, if they have not caused any complications by the age of 7 years, they probably never will. The same holds true for certain orthopedic complications (tibial pseudoarthrosis) which, if absent in childhood, will not appear later on. Hope and research are invaluable assets.
The Board of Directors of the Association de la neurofibromatose du QuĂ©bec (ANFQ) is concerned about the fact that a few members of the medical profession continue to associate neurofibromatosis with Elephant Man disease. First described in 1885, and then in 1923, by Frederick Treves, and reviewed in 1971 by Ashley Montagu, the condition and personality of John â€“ or Joseph â€“ Merrick â€“ the Elephant .Man â€“ have been the subject of a great deal of media hype in the cinema, at the theatre, on television and in all kinds of publications. The film was shown again recently on one of our television networks.
Dermatologists Crocker, in 1905, and Weber, in 1909, had suggested that Merrick had neurofibromatosis. In 1982, a group of clinicians who had examined his skeleton affirmed that he had suffered from three different diseases. In 1986 and in 1988, two Canadian geneticists, J. Tibbles and M. Cohen, demonstrated that Merrick â€“ the Elephant Man â€“ had not had neurofibromatosis, but had suffered from the Proteus Syndrome. Even if there is still no unanimity as to the actual condition of Joseph Merrick, it is however generally acknowledged today that he did not have neurofibromatosis, or von Recklinghausen's disease.
The stakes of this identification are considerable: considering the imaginary stigma created by the publicity given to the Elephant Man, it is a tragic event in a family to learn that one or more of its members, with neurofibromatosis, allegedly suffer from Elephant Man disease, that is, that their condition could degenerate to the point of being a monster. As a result, people with the disease and their close ones can become profoundly affected by the idea of such an eventuality.
The ANFQ is asking members of the medical profession who have patients with NF to properly inform about the recent knowledge confirming with certainty that there is no relation between these two diseases and that there should be no fear that a patient with NF may in any way come to resemble the Elephant Man. The ANFQ would be grateful if patients with NF were well reassured in this regard.
(For more information, see chapter 11, "The Specter of the Elephant Man", of Joan Ablon's bookLiving with Genetic Disorder : The Impact of Neurofibramatosis 1, Westport CT, Auburn House, 1999, 105-112)
Neurofibromatosis is a genetic disorder which affects the skin and the nervous and skeletal systems. It may be inherited from either parent in 50% of cases or result from a spontaneous genetic mutation.
Association de la
Neurofibromatose du Québec
C.P. 150, Succ. St-Michel
Montréal, Québec, H2A 3B0
pre-spring activity that will be held on March 9, 2013, in the Grande-Allée A room of the Château Laurier, in the city of Québec.