Your doctor diagnoses NF1 first by conducting a physical examination. Your physician checks your skin for cafe au lait spots (hyperpigmentation lesions) using a lamp. In addition to a physical examination, having a family history of the condition is a major component of an NF2 diagnosis. Your physician might recommend genetic tests, imaging tests (CT scan, MRI and/or X-rays) and an eye and ear exam as part of the official diagnosis.
Schwannomatosis is a rare type of neurofibromatosis that usually affects you after you reach the age of 20. This type causes tumors on the peripheral nerves, skull and spine. It doesn’t have an impact on the nerve that carries balance and sound information from your inner ear to your brain. Schwannomatosis doesn’t cause the hearing loss that people with NF2 suffer as tumors don’t tend to grow on both of your hearing nerves.
Information About Medical Marijuana and Neurofibromatosis
Each person reacts differently to their NF diagnosis. When you have neurofibromatosis, you’ll likely experience strong emotions. You might be frightened of what the future holds. You could be concerned about potential changes in your physical appearance and how others might then react to you. You’ll also struggle with feelings of isolation and perhaps dread.
There’s currently no known cure for neurofibromatosis. Therefore, treatments are focused on controlling your symptoms. No standard treatment exists for the condition because NF symptoms vary so widely from individual to individual. Some symptoms, such as freckling and cafe au lait posts, don’t require treatment. When treatment is necessary, your options could include:
Symptoms and signs include:
CBD is generally better tolerated by patients when compared to THC. Some patients may experience side effects, usually mild and infrequent, including fatigue, diarrhea, increased/decreased appetite, and somnolence . These may be due to the low levels of THC in the formulation . Our patient did not report any side effects during the treatment period.
A 25-year-old woman of African descent with NF1 presented to our clinic complaining of chronic pain, depression, and anxiety. She was diagnosed with NF1 at puberty but had reported symptoms since childhood. She was unaware of a family history of similar conditions. She has Lisch nodules on her iris bilaterally and 10 café-au-lait patches across her body. The patient also has numerous subcutaneous neurofibromas on her face (plainly visible and causing some facial disfigurement) and in several regions of her body. These caused her chronic, intermittent, sharp pain of varying intensity but averaging 6/10 on the 10-point pain scale. She has tried many OTC pain medications with limited benefits. She has had over 20 surgical resections and multiple laser treatments for the neurofibromas with limited success as they often recurred after treatment. She reports pain from both the treatment and the tumors themselves. The neurofibroma tumors have also caused her cosmetic issues. She reports being withdrawn, stressed, and anxious, especially in social situations when she feels that people are staring at her. She reports low energy and had lost interest in most activities. Furthermore, she reports that her condition has interfered with finding employment and leading a normal life. She states that her mood is low, and she has frequent crying episodes. Her general practitioner (GP) has prescribed multiple antidepressants that were not tolerated due to the side effects. Consistent with NF1 common symptoms, she reports having migraine headaches. She averages around 15 episodes per month varying in intensity between 5/10 and 10/10. She has reportedly used OTC pain medications for the migraines unsuccessfully.
CBD oil has no established dosing guidelines or maximum doses, except in psychosis (800 mg) and seizure disorders (2,500 mg or 25 – 50 mg/kg) . Dosing is highly individualized and relies to a great extent on titration. The general approach to initiation is to “start low and go slow.” Many patients report benefits at low doses, starting with as little as 5 – 20 mg (0.25 ml – 1 ml) per day of oral oil preparations .
Current treatment options for pain in NF1 include OTC medications (such as ibuprofen and acetaminophen), prescribed pain medications (such as opioids, anticonvulsants, and anti-depressants), and surgical removal of neurofibromas. Other than emerging potential targeted therapies, specific treatments for NF1 are rather deficient due to the complex nature of the NF1 pathophysiology and the minimal understanding of its pain etiology .
Cannabidiol use with our patient has shown promising results in controlling the pain and concomitant mood disorder. Given our experience and the growing body of evidence for the efficacy of CBD in treating patients with multiple chronic pain conditions, it should be considered as a treatment option in the management of this patient group, especially when conventional pain medications have failed or were not well-tolerated. CBD also seems to have a positive effect on the psychosocial pain component of NF1. Nevertheless, more research targeted at understanding the etiology of the pain in NF1 and also more clinical trials using CBD for NF1 are still needed.
At the three-month follow-up visit, the patient reported starting with 4 mg (0.2 ml) BID of cannabis oil with CBD to THC ratio concentrations of 20 mg/ml to 1 mg/ml (CBD: THC 20:1). This was gradually increased by the patient (self-titration) to 8 mg (0.4 ml) BID. During this period, the patient reported that her pain was significantly reduced (from an average of 6/10 down to 1/10). She reported being less emotional and feeling calmer. She said that her anxiety dropped from 9/10 down to 3 to 4/10 and that her mood had stabilized. Also, as an added benefit, she reported that her migraines had improved. She reported fewer episodes per month (five per month down from 15 per month before starting the CBD oil) and that she was able to decrease her dependence on OTC anti-inflammatory pills for pain relief. Overall, a significant improvement in her quality of life was evident by the change in her demeanor and a novel enthusiasm for seeking employment.
CBD has been showing positive results in alleviating chronic pain. A large meta-analysis by Whiting et al. and other studies showed that cannabinoids are effective with neuropathic pain, fibromyalgia, cancer, and diabetic neuropathy, refractory pain due to multiple sclerosis and other neurological conditions, including rheumatoid arthritis, noncancer pain, central pain, musculoskeletal problems, and chemotherapy-induced pain [15-16]. Its efficacy with migraines and mood disorders has been consistently noted in the literature as well [17-19]. A recent preclinical study demonstrated effective neuropathic pain and comorbid anxiety and depression reduction through its interaction with the serotonin 5-HT1A receptor . It is speculated that this might be the physiological model responsible for the noted improvement in the case study. Similarly, a study on the mechanism of pain in NF1 patients proposes that modulation of ion channels, specifically sodium channels, might be one of the pain pathways in these patients . Giving the effect of CBD on these channels, it is postulated that the CBD might be modulating pain via this mechanism, as described above.
Neurofibromatosis Type 1 is a condition in which tumors grow in the nervous system. These tumors can lead to skeletal abnormalities, scoliosis, and chronic pain. Cannabis oil can provide some respite to those with the condition for whom other pain relievers have little effect. It is difficult to have a friend or loved-one who is in constant pain, and harder still to know that the state of Georgia would consider seeking some temporary relief a crime. Add Neurofibromatosis Type 1 to the accepted list of medical conditions treatable by cannabis oil in Georgia.