Practical and Quality-of-Life Issues

This chapter focuses on the major practical and quality-of-life aspects of living with neurofibromatosis (NF). Logistical challenges include coordinating multiple medical visits, navigating the insurance system, and identifying resources to fill gaps in care. Economic challenges include out-of-pocket expenses on health care, lost wages and earnings due to medical absences, and job discrimination. Some people with neurofibromatosis must also contend with pain, a significant medical challenge that may require a combination of management strategies.

Finding a physician who is knowledgeable about neurofibromatosis can present a major challenge. Many people with neurofibromatosis have encountered at least one health care professional who provided outdated or erroneous information and advice.

It can be overwhelming to deal with the physical and psychosocial aspects of neurofibromatosis while simultaneously trying to navigate the medical system. Typically people with neurofibromatosis must schedule multiple medical visits and surgical consults—often at different institutions and perhaps even in different parts of the country—and then keep track of results and follow-up appointments. For parents of children with the disorder, an added challenge is dealing with the school system, especially if the child has one or more learning disabilities and a behavioral disorder such as attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD).

Some people seem to juggle all this effortlessly. For those who don’t, the following strategies may help to better coordinate care.

When multiple health care providers are involved, it may help to identify one as the “case manager” or “quarterback” who will coordinate paperwork and communication between providers. Often the case manager is a physician. At other times, a nurse, social worker, or genetic counselor may play this role. The choice of case manager depends in part on the hospital or medical office that provides care, for different providers have different ways of organizing their practices. It may also depend on whom the individual with neurofibromatosis feels most comfortable with. Be aware that health insurers do not usually cover case management, so that the medical professional assuming this role will have to make time for it on top of other duties.

Every patient has a right to confidentiality concerning medical information. The federal Health Insurance Portability and Accountability Act of 1996 (HIPAA) requires that the federal government set uniform standards for patient confidentiality. The Department of Health and Human Services issued a HIPAA Privacy Rule that went into effect in April 2003 and significantly widened privacy protections, applying them to medical offices, hospitals, and insurance companies. Under the HIPAA Privacy Rule, health care providers may release medical information about a patient only when that patient provides written permission to do so, except when related to providing treatment, obtaining payment from an insurer, or contacting the patient about appointments or providing the patient with medical information. Certain other exceptions are also allowed. For instance, medical providers may share the information with medical colleagues involved in a patient’s care and with designated family members. The Privacy Rule authorizes patients to view their medical records at any time and request limits on how that information may be shared with others.

Health insurance is often a big concern for people with neurofibromatosis and their loved ones. The patchwork nature of the health insurance industry, with a variety of plans and insurers available, only adds to the anxiety. To make the process of finding health insurance easier, people with neurofibromatosis should familiarize themselves with several issues.

Most people in the United States obtain health insurance through their employers. People with neurofibromatosis cannot legally be excluded from such employer-sponsored group plans, but may have to wait for a specified period before having access to certain benefits if the policy has a preexisting condition clause (discussed below). Assuming the company offers family as well as individual coverage, an employee’s dependent child with neurofibromatosis is covered until early adulthood (age varies depending on the plan).

Self-employed people, and those whose employers do not offer health insurance, may obtain individual coverage through a local Chamber of Commerce, insurance broker, or membership in a professional association. People living on limited incomes and those who are disabled may be eligible for a government program such as Medicare or Medicaid. Many hospitals also provide financial assistance to patients and families unable to meet all or part of their bills, although eligibility criteria and application procedures vary. Ask your health care provider about this resource or contact the institution’s patient relations office.

Indemnity plans pay for care on a fee-for-service basis and allow a patient the most freedom in choosing health care providers and services. Premiums for such plans tend to be high and few employers today offer them.

Self-insured plans are funded and administered by the employer. Large companies with thousands of employees tend to offer such plans, which are not always subject to state regulation and therefore may not provide all of the benefits available through indemnity and managed-care plans.

• Health maintenance organizations (HMOs) require patients to choose a primary care physician who acts as a “gatekeeper” for referral to specialists.
  
• Preferred provider organizations (PPOs) allow patients to seek health care services from a preauthorized list of providers.
  
• Point of service (POS) plans enable participants to choose from approved or “network” providers but also to go “out of network,” though usually with higher co-pays and deductibles, if they choose.

Medicaid is a program funded jointly by the federal and state governments to provide health insurance to people with limited incomes who also meet other eligibility criteria.

Medicare is a federal program that provides health insurance to people older than 65 and to those who are disabled and meet eligibility requirements.

State Children’s Health Insurance Program (CHIP) is a joint federal and state program that provides health insurance for uninsured children. Eligibility criteria vary depending on state of residence.

Drug formulary: If the plan provides coverage for prescription drugs, it may limit coverage to those medications on its approved formulary list. Ask for the formulary list to determine whether a needed medication is covered.

Lifetime caps: Some plans specify a maximum dollar amount of benefits available to a plan participant over the course of a lifetime, or for a noted condition. It pays to read the fine print ahead of time rather than find out in the midst of receiving medical treatment.

Preexisting condition clause: Some plans impose a waiting period before covering services for a preexisting condition such as neurofibromas, schwannomas, scoliosis, and other manifestations of neurofibromatosis. These clauses apply only to new participants. When people with neurofibromatosis switch jobs or health care providers, this clause can become an issue. It may require that participants wait 6 months, a year, or longer, depending on the plan, before receiving coverage or reimbursement for designated medical services. Before changing jobs or health insurers, it is important to consider whether doing without services for a specified period, or paying for them directly, is an option.

Provider network: If the plan restricts care to an authorized list of providers, check to determine whether your physicians are on the list. If not, out-of-network co-pays and other costs may apply. It may be possible to add the physician to the authorized list, but this requires the physician to contact the insurance plan administrator.

Specialists: Some plans restrict access to specialists by requiring preauthorization or by limiting the type of specialty services covered. Because people with neurofibromatosis often need to consult with and be treated by specialists, it pays to read this section of the plan carefully.

When a health insurance company declines to pay for a medical service or test, the insured individual can appeal the decision. The exact appeals procedure used depends on the health insurance company, but following a few general guidelines may make the process easier.

Determine the proper procedure: Each health insurance company has its own appeals process. Read the health insurance policy to learn how to initiate an appeal, or contact an employer’s plan administrator. Another option is to call the health insurer’s customer service line and ask for the proper forms.

Submit the appeal in writing: It is always best to document and submit the issue in writing, even if you talk by phone with a customer service representative. Clearly identify which medical procedure has been denied and why you believe it should be covered. A letter from your physician documenting your claim helps to bolster the appeal.

Establish timeframes for follow-up: When communicating with health insurance company representatives, always ask about how the appeal will be heard and when a decision will be made. Follow up to ensure that the appeal moves along.

People with neurofibromatosis may become temporarily or permanently disabled and unable to work because of medical complications caused by their condition or its treatment. Sometimes people who have undergone surgery need time to recover physically before returning to work. Others may lose vision, hearing, or mobility. Chronic severe pain can also become disabling.

People who are employed and become temporarily unable to work are eligible to collect temporary disability insurance (TDI) from the state government. TDI deductions are included in the normal payroll deductions from an employee’s paycheck. Eligibility criteria and benefits vary by state, so check with the state Department of Labor, or similar department, for details.

If the disability is expected to last for more than 12 months, individuals are eligible for federal disability payments made by the Social Security Administration (SSA). Two programs are available through SSA. Social Security Disability Insurance (SSDI) provides income for disabled people who were previously employed in jobs covered by Social Security. Benefits under SSDI are determined by how much a person earned while working. Supplemental Security Insurance (SSI) is a similar program for people who are age 65 and older, blind, or disabled and have a low income and are without financial assets. Benefits under SSI vary by state, depending on whether and how much the state supplements federal benefits.

People with neurofibromatosis and their loved ones sometimes encounter discrimination in employment. Some people have been denied a job or promotion they are qualified for because of an employer’s misguided concerns that the condition is contagious or might alienate customers. Other people have been fired or demoted because they took too much sick leave. Technically, such behavior is illegal, but it happens.

Two federal laws prohibit discrimination due to illness or a genetic condition such as neurofibromatosis. The Americans with Disabilities Act of 1990 (ADA) prohibits discrimination on the basis of a physical or mental impairment and requires that employers with more than 15 employees provide “reasonable” accommodations for eligible employees. Examples of reasonable accommodations include modifications in the work environment to make it accessible or flexible scheduling to accommodate medical appointments. The ADA also prohibits employers from asking someone about a medical condition during a job interview or refusing to hire someone out of concern that the employee or his family will incur big medical expenses. The Family and Medical Leave Act of 1993 enables employees who have worked for the same employer for 12 months or longer to take an unpaid 12-week leave for serious medical reasons. This leave can be taken if the employee himself needs care or if a family member needs care. After the leave ends, the employee must resume the original job or be assigned one that is similar in terms of pay and benefits.

For further information about these laws, or to file a charge of discrimination, contact the federal Equal Employment Opportunity Commission, your state Human Rights Commission, or the federal or state Department of Labor. Another option is to consult with an attorney familiar with employment law.

Most people with neurofibromatosis do not have to limit their activities in any way, nor are they more prone to injury than others. Some people, however, may be faced with complications that limit mobility and function temporarily and even permanently. People with NF1 who have scoliosis or bone abnormalities, for instance, may need temporary bracing and/or physical therapy. People with NF2 who have vestibular schwannomas may benefit from balance exercises whether or not they have surgery. Anyone with neurofibromatosis-related pain may try to avoid triggering more by altering posture or movements, but in the long run this may cause a different pain elsewhere. Severe physical limitations and pain can alter the ability to work, and to participate in sports or exercise, hobbies, social activities, and home maintenance.

Pain management strategies are discussed below. These may be used in conjunction with physical and/or occupational therapy, depending on the individual’s condition. Although there is a lot of overlap between the two professions, physical therapists tend to focus on the entire body, whereas occupational therapists focus more on the upper extremities. Both teach exercises to strengthen muscles and recommend assistive devices such as splints and canes to ease pressure on sore areas of the body.

The first step in evaluating pain is to try to find the cause. Symptoms are of primary importance in this regard. No medical test or imaging device can gauge the intensity of pain, although they may help pinpoint the cause of it. Physicians rely on the patient’s description of where the pain is located, how long it lasts, and what it feels like. Use words like dull or sharp, constant or transient, aching or burning to describe pain; this helps the physician to zero in on a potential cause. The physician may order x-rays, magnetic resonance imaging (MRI) scans, or other medical tests to locate tumors or other abnormalities. Although it is frustrating for patient and physician alike, it is not always possible to determine immediately what is causing the pain.

Pain relief in neurofibromatosis depends on the cause. Sometimes the best way to relieve pain caused by a tumor pressing on a nerve is to remove the tumor. If complete excision is not possible, a partial removal that reduces the size of the tumor may provide some relief. When tumors are inoperable or—as is common in neurofibromatosis—the cause of pain is unknown, medications and other interventions may provide some relief.

Physicians usually begin with conservative treatments first and then try more aggressive options if these initial strategies do not work. Many medications have side effects, so be sure to check with a physician and/or pharmacist before choosing one. Anecdotal information from friends or family members is not always helpful, for individuals metabolize drugs in different ways. What works for your friend with neurofibromatosis may not work for you. It is also important to understand that neuropathic pain, which is caused by damage to a nerve, may not respond to standard pain medications and may require treatment with drugs normally used for other conditions such as epilepsy.

Over-the-counter pain relievers are usually the first medications recommended if the pain is mild to moderate in severity. These include aspirin, acetaminophen (brand names include Anacin and Tylenol), and nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin IB, etc.), ketoprofen (Actron, Orudis KT), and naproxen sodium (Aleve). Some medications contain a mixture of ingredients. For instance, one over-the-counter medication, Excedrin Migraine, combines aspirin, acetaminophen, and caffeine. Over-the-counter medications must be paid out-of-pocket, because health insurers do not cover them.

Prescription pain relievers may be necessary for moderate to severe pain. These medications must be ordered by a physician and are usually obtained at pharmacies. Examples include NSAIDs such as diclofenac sodium (Voltaren), ibuprofen (Motrin), ketoprofen (Orudis, Oruvail), nabumetone (Relafen), and naproxen (Naprosyn). Such NSAIDs work by blocking two enzymes involved in the transmission of pain signals to the brain, known as Cox-1 and Cox-2. Medications known as Cox-2 inhibitors block only the second enzyme and cause fewer gastrointestinal reactions than NSAIDs. Cox-2 inhibitors include celecoxib (Celebrex) and others in development. Drugs intended specifically for migraine headaches include ergotamine (Ergomar, Ergostat), naratriptan (Amerge), rizatriptan (Maxalt), zolmitriptan (Zomig), and sumatriptan (Imitrex). Some health insurers do provide partial or complete reimbursement for prescription drugs, although choice of drug may be restricted.

Opioid medications, also known as narcotics, are prescription medicines reserved for severe or recalcitrant pain. Opioids tend to be sedating, causing drowsiness, and they can become addictive. As a result, physicians may be reluctant to prescribe them. Even given the risks, however, opioids may be a viable option for people with neurofibromatosis who are experiencing severe pain that has not responded to other treatments. Anyone taking opioids should be monitored regularly; side effects vary and doses must be calibrated carefully. Opioids include codeine, propoxyphene (Darvon, Darvocet), oxycodone (Percodan, Percocet), oxycodone HCI controlled-release tablets (OxyContin), morphine (MS Contin, Kadian, etc.), hydromorphone (Dilaudid), and fentanyl (Duragesic patch).

Anticonvulsants provide another option in treating neuropathic pain. These medications, normally used in treating epilepsy and other types of seizures, block aberrant nerve cell signaling that may be involved in producing the sensation of pain. Anticonvulsants used to treat nerve pain include carbamazepine (Tegretol), clonazepam (Klonopin), gabapentin (Neurontin), phenytoin (Dilantin), and valproic acid (Depakene).

Cardiac medications may be prescribed for pain related to neurofibromatosis. Antiarrhythmic medications, which are usually used to correct an irregular heartbeat, can treat nerve pain. These include mexiletine (Mexitil) and clonidine (Catapres). High blood pressure medications may be effective in preventing a migraine headache or easing its symptoms. Examples include beta-blockers such as propranolol (Inderal) and calcium-channel blockers (Cardizem, Procardia).

Nancy B: “I have worried about insurance, primarily when I’ve changed jobs. In one job, the insurance plan wouldn’t cover any preexisting conditions for a year. So I took the chance that nothing would happen, and it didn’t. But during the few times when I have seen doctors about NF-related symptoms, I haven’t had any trouble with insurance.”

Porter C.: “Some people with neurofibromatosis have no pain. I have. It hurts to be hugged—that is, a bear hug. Gentle hugs are okay. Sometimes the pain is sharp, like being stuck with an ice pick being wiggled around. Sometimes it’s pressure pain.

“My back is impossible for me to get clean. Twice a week, someone comes to work on it with a soft toothbrush. I wear soft clothing and have to be careful trying on clothes so that I don’t get anything bloody.”

Kellie C.: “The people at the NF Foundation have been supportive. I think that has helped. They told us that they’d be there to support us, whatever happened.”

“I work 4 full days a week. I often work through lunch so that I can fit in all Julie’s appointments. I meet regularly with school officials twice a week, and then with the psychologist and all the doctors. It can be challenging.”

Dolores G.: “Susan was an exception as far as pain went. Most people with NF1 do not have as much pain as she did even early on. Of course if you bump a neurofibroma, you’d have pain. But if you have internal neurofibromas and they’re growing, you might have pain. So most of her pain was from internal tumors.

“Toward the end, she was on a lot of drugs to control the pain. She took morphine and a lot of OxyContin in the last two years of her life. Her pain doctor was very good and stuck his neck out for her. He was investigated a few times because he prescribed her so much OxyContin. But that was the only thing that would help her pain. She was in excruciating pain from the internal tumors.”

Marcy H.: “The pain of schwannomatosis is off the chart. If you don’t go through it, you don’t know how bad it is. It’s like living with knives in me. I can’t stand it. I take Neurontin for pain. The maximum dose is 6000 mg a day, and although I’m only 89 pounds, that’s often what I’m taking.