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Von Recklinghausen Disease: What are the prospects for a cure?

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  • Von Recklinghausen Disease: What are the prospects for a cure?

    A person recently wrote to me to ask if she could ever walk again. She has Von Recklinghausen disease or neurofibromatosis type 1 (NF-1), a genetic disease that causes tumors along the central nervous system, scoliosis and other curvatures of the spine, and other neurological deficits.

    I wrote back and said that I believe that the therapies that we are currently working on for spinal cord injury will be applicable to patients who have paralysis from other causes, such as neurofibromatosis. She responded, asking if there are doctors that I can refer her to and treatments that I would recommend. I told her that such therapies are not yet available but I believe that they will be.

    Von Recklinghausen's disease present two additional problems that must be addressed in addition to restoring fucntion. The first is the orthopedic problems associated with the disease. Most people with neurofibromatosis develop scoliosis or other curvatures of the spine that require orthopedic correction. The second is that the tumors that is often associated with the disease. Both of these issues can be corrected with careful and limited surgery.

    I suggested to her that we continue our discussion here in this forum where I can take more time to describe what will be required to address these problems.


  • #2
    Thanks, Wise. I have had a number of clients with neurofibromatosis as the cause of their SCI, over the years. It is good that attention is being paid to this disease as a cause of SCI, and possible cure therapies down the road. Both of my clients had extensive ortho-spine procedures; once for a severe gibus (the worst I have ever seen) and the other for a severe scoliosis, both had their diagnosis and treatment as adults.

    The SCI-Nurses are advanced practice nurses specializing in SCI/D care. They are available to answer questions, provide education, and make suggestions which you should always discuss with your physician/primary health care provider before implementing. Medical diagnosis is not provided, nor do the SCI-Nurses provide nursing or medical care through their responses on the CareCure forums.


    • #3
      Last fiscal year the DoD had a research call for new funding to go before peer review for neurofibromatosis. It is occasionally caught in those with minor symptoms during enlistment physicals but normally the DoD deals with it as a family member medical problem that can be very expensive.
      Courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying, "I will try again tomorrow."

      Disclaimer: Answers, suggestions, and/or comments do not constitute medical advice expressed or implied and are based solely on my experiences as a SCI patient. Please consult your attending physician for medical advise and treatment. In the event of a medical emergency please call 911.


      • #4
        Dr paul Mcormick NYC 212-305-7976

        did surgery on a friend who had tumor removal and rods for scoliosis. she has this condition. she is walking now. I know her from the Philadelphia folk fest. he was highly recommended by another surgeon.


        • #5
          Von recklinghausen - any contact in us for nf1

          Dear Wise,
          Thanks for the time you've taken to answer me back and share my story with other people. I'm really touched !
          May I ask you if you can focus me to a NF1 specialist ? I want to contact a specialist in order to send him my medical record and to know if I can come to meet him.
          My wish is to be followed by a specialist in NF1 who can give me a medical advice about my case.
          Thanks a lot for your help, and I'm available to answer any questions if you need.
          Linda Djouani


          • #6

            Could you please help me ?
            I want to contact a NF1 specialist to transmit my medical records and ask for medical advises.
            I tried unsuccesfully to contact Dr Paul C.McCormick.
            Do you please have a name, an email for me ?Thanks,


            • #7
              Dear Sue, I see that you are taking care of people with SCI desease and spinal cord injuries.
              First thank You for your implication.
              I want to know if there is new treatments or experimental treatments for NF1 and spinal cord injuries due to scoliosis. Here in France I don't find any treatments for that. My scoliosis is severe and I've been treated in 1990 with Cotrel-Dubousset instrumentation. Today my Cotrel-Dubousset is obsolete and my spine is still moving. I'm looking for new instruments/materials available to improve my scoliosis.
              Thanks for your reply.


              • #8
                Hi everybody,
                My name is Linda DJOUANI and I write you to ask you if you can help me in my battle against my disease. I was born in 1977 in France and I became paraplegic when I was 13 in 1990.
                At first, I was hospitalized in 1985 for traction with halo.
                In fact, I have a Recklinghausen with neurofibromas and when I was 13, I had a scoliosis from D5 to D10 80?. My doctor decided to make a bending surgery. It allowed arriving at a scoliosis 40?.
                When I woke up after the anesthesia, I didn’t feel my legs. To be honest, I have never understood why. I just know i have a spinal cord injury since this surgery.
                The staff decided to take off the equipments, which made the scoliosis worse (40? to 120?).
                Thereafter, I went to reeducation center and they made a new surgery in June 1991: Cotrel Dubousset in two times. It allowed arriving at 45?.
                I ask you to know if it is possible to help me no matter how: meet me, put me in relation with a specialist you know, advice me a treatment... It's hard to find solutions in France.
                You can join me by inbox.
                Looking forward for your answer, please accept my best regard.
                Thanks for reading me,

                Linda Djouani


                • #9
                  I see you have looked for help with this for many years and I'm glad you keep looking. many of us, for different reasons,
                  keep searching for help for many years. Some find help, some do not, but this is life, no? Never give up.