Achieving sense of stability following diagnosis – one woman’s journey with a rare neurological disease

(BPT) - Sally is a second grade teacher who loves spending time with her family and being outdoors — she has always been healthy and active, enjoying hikes and practicing yoga. Four years ago, she started experiencing a strange pain in her right arm and hand.

“It felt like a combination of numbness and shooting pain,” describes Sally. “I thought I had a pinched nerve, so I made an appointment with my physician to figure out what was wrong.”

Difficulties with diagnosis

Her first doctor’s visit resulted in an unexpected diagnosis — Sally was told that she had suffered a stroke, which did not make sense to her. Questioning the diagnosis and wanting more clarity about her health, she met with a neurologist, requesting an MRI to evaluate her cervical spine. The MRI showed lesions on her spine, which led to another diagnosis: multiple sclerosis (MS). As her arm numbness worsened, Sally’s care team worked to determine her specific type of MS and discuss potential treatment options.

First treated with oral prednisone, Sally’s symptoms did not improve, and she experienced non-stop vomiting for 24 hours. She later learned this can be a symptom of a rare disease — neuromyelitis optica spectrum disorder (NMOSD), but at the time, she was still being treated for MS. When the oral prednisone did not alleviate any symptoms, her care team tried IV steroids next, which helped improve the numbness, but the pain continued. Sally’s neurologist pursued further testing — a spinal tap and blood test — to understand why no treatments were successful. These tests showed the presence of aquaporin-4 antibodies, which are associated with NMOSD but not present in patients with MS. About three months after her initial symptoms, she was accurately diagnosed with NMOSD.

“It was scary receiving a diagnosis for a disease I had never heard of,” recalls Sally. “Learning more about the condition and the progressive nature of the disease left me feeling uncertain and worried about how this diagnosis would impact my future.”

NMOSD can place a heavy burden on patients and their families as attacks and disease severity are unpredictable and could lead to permanent disability.

What is NMOSD?

Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare, debilitating disease of the central nervous system characterized by immune-mediated damage to the optic nerve, brain stem and spinal cord. NMOSD may cause a wide range of symptoms including permanent blindness, muscle weakness, paralysis, pain and fatigue. The variety of ways that NMOSD manifests may cause delays in diagnosing the disease.

NMOSD affects approximately 10,000-15,000 people in the U.S., and the median age of onset is 40 years (onset ranges from ages 3 to 80).[1],[2] The incidence rate may be up to 9 times as high for women as for men, and the prevalence of the disease is around 2-3 times higher in Black and Asian populations.[3],[4]

The journey to wellness

“The numbness and shooting pain I was dealing with was due to inflammation of the spinal cord,” said Sally. “My neurologist explained to me that NMOSD can also cause inflammation of the optic nerve, causing vision problems and eye pain, including sudden blindness. Fortunately, I have never experienced any symptoms in my eyes.”

After her diagnosis, Sally was referred to an NMOSD Center of Excellence and learned about the different treatments available and although there were no FDA-approved treatments at the time, Sally was enrolled in the N-MOmentum clinical trial for Uplizna® (inebilizumab-cdon). Uplizna, which was approved by the FDA in June 2020, is the first and only B-cell depleter approved for the treatment of NMOSD in adult patients who are AQP4 antibody positive.

“My physician explained that Uplizna is designed for patients with NMOSD and works by depleting the specific B cells that are believed to cause the disease,” Sally said. “After learning more about the drug and talking with my physician, it felt like the right course of treatment for me and that it would fit into my lifestyle.”

Since beginning her treatment with Uplizna, Sally hasn’t experienced any side effects, and most importantly, she hasn't had any additional NMOSD relapses. “While I still take certain precautions knowing that I have a suppressed immune system, I have been able to continue doing the things I enjoy,” says Sally.

This story is Sally’s personal experience with Uplizna. The most common side effects of Uplizna include urinary tract infections, joint pain, headaches and back pain, and Uplizna may cause serious side effects, including low blood-cell count. Always discuss with your doctor the right treatment option for you.

How NMOSD differs from MS

As in Sally’s case, NMOSD may be difficult to diagnose, because its wide range of symptoms overlap with other illnesses, especially MS. In fact, 41% of NMOSD patients reported receiving an initial misdiagnosis of MS.[5],[6]

Differences between NMOSD and MS:

NMSOD

  • Severe acute episodes can lead to permanent disability
  • Permanent central nervous system (CNS) damage
  • 70% of people with NMOSD are aquaporin-4 antibody seropositive

MS

  • Cumulative effect of individual episodes typically cause disability
  • Often experience better recovery from attacks
  • AQP4 antibody seronegative

NMOSD and MS are treated in different ways, and early detection and treatment help ensure the best outcomes. Differential diagnosis of NMOSD and MS is important, because MS treatments may be ineffective or may exacerbate NMOSD.[7],[8]

Important Safety Information

What is Uplizna?

Uplizna is a prescription medicine used to treat adults with neuromyelitis optica spectrum disorder (NMOSD) who are anti-aquaporin-4 (AQP4) antibody positive.

It is not known if Uplizna is safe or effective in children.

Who should not receive Uplizna?

You should not receive Uplizna if you have:

  • had a life-threatening infusion reaction to Uplizna.
  • an active hepatitis B virus infection.
  • active or untreated inactive (latent) tuberculosis.

Before receiving Uplizna, tell your healthcare provider about all of your medical conditions, including if you:

  • have or think you have an infection.
  • have ever taken, currently take, or plan to take medicines that affect your immune system, or other treatments for NMOSD. These medicines may increase your risk of getting an infection.
  • have or have ever had hepatitis B or are a carrier of the hepatitis B virus.
  • have or have ever had tuberculosis.
  • have had a recent vaccination or are scheduled to receive any vaccinations. You should receive any required vaccines at least 4 weeks before you start treatment with Uplizna.
  • are pregnant or plan to become pregnant. It is not known if Uplizna will harm your unborn baby. Females should use birth control (contraception) during treatment with Uplizna and for 6 months after your last infusion of Uplizna.
  • are breastfeeding or plan to breastfeed. It is not known if Uplizna passes into your breast milk. Talk to your healthcare provider about the best way to feed your baby if you receive Uplizna.

Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.

What is the most important information I should know about Uplizna?

Uplizna may cause serious side effects, including:

Infusion reactions. Uplizna can cause infusion reactions that can be serious or may cause you to be hospitalized. You will be monitored during your infusion and for at least 1 hour after each infusion of Uplizna for signs and symptoms of an infusion reaction. Tell your healthcare provider right away if you get any of these symptoms:

  • headache
  • sleepiness
  • fever
  • rash
  • nausea
  • shortness of breath
  • muscle aches

If you develop an infusion reaction, your healthcare provider may need to stop or slow down the rate of your infusion and treat your symptoms.

Infections. Infections can happen during treatment with Uplizna. Tell your healthcare provider right away if you have an infection or get any of these symptoms:

  • painful and frequent urination
  • nasal congestion, runny nose, sore throat, fever, chills, cough, body aches
  • Uplizna taken before or after other medicines that weaken the immune system may increase your risk of getting infections.
  • Hepatitis B virus (HBV) reactivation. Before starting treatment with Uplizna, your healthcare provider will do blood tests to check for hepatitis B viral infection. If you have ever had hepatitis B virus infection, the hepatitis B virus may become active again during or after treatment with Uplizna. Hepatitis B virus becoming active again (called reactivation) may cause serious liver problems, including liver failure or death. Your healthcare provider will monitor you if you are at risk for hepatitis B virus reactivation during treatment and after you stop receiving Uplizna.
  • Progressive Multifocal Leukoencephalopathy (PML). PML may happen with Uplizna. PML is a rare brain infection that leads to death or severe disability. Symptoms of PML may get worse over days to weeks. Call your healthcare provider right away if you get any of these symptoms:
    -weakness on one side of the body
    -changes in your vision
    -confusion
    -loss of coordination in your arms and legs
    -changes in thinking or memory
    -changes in your personality
  • Tuberculosis (TB). TB is caused by an infection in the lungs. Before starting treatment with Uplizna, your healthcare provider will check to see if you are at risk for getting TB or have ever had TB.
  • Vaccinations. Certain vaccines, called “live” or “live attenuated” vaccines, are not recommended in people receiving Uplizna. Talk to your healthcare provider before receiving any vaccinations. If you have a baby and you were receiving Uplizna during pregnancy, it is important to tell your baby’s healthcare provider about your Uplizna use so they can decide when your baby should receive any vaccine.

See “What are the possible side effects of Uplizna?” for more information about side effects.

How will I receive Uplizna?

  • Uplizna is given through a needle placed in a vein (IV or intravenous infusion) in your arm.
  • Before treatment with Uplizna, your healthcare provider will give you a corticosteroid medicine, an antihistamine, and a fever prevention medicine to help infusion reactions become less frequent and less severe. See “What is the most important information I should know about Uplizna?”
  • Your first dose of Uplizna will be given as 2 separate infusions, 2 weeks apart.
  • Your next doses of Uplizna will be given as one infusion every 6 months.
  • Each infusion will last about 1 hour and 30 minutes. After each infusion, you will be monitored by a healthcare provider for at least 1 hour.

What are the possible side effects of Uplizna?

Uplizna may cause serious side effects, including:

  • See “What is the most important information I should know about Uplizna?”
  • low blood cell counts. Uplizna may cause a decrease in some types of blood cells. Your healthcare provider will do blood tests to check your blood cell counts.

The most common side effects include urinary tract infection and joint pain. These are not all the possible side effects of Uplizna.

Call your doctor for medical advice about side effects. You may report side effects to the FDA at 1-800-FDA-1088.

For more information and the full Prescribing Information, visit www.Uplizna.com.

[1] Hamid SHM, et al. What proportion of AQP4-IgG-negative NMO spectrum disorder patients are MOG-IgG positive? A cross sectional study of 132 patients. J Neurol. 2017;64(10):2088–2094.

[2] Mealy MA, Wingerchuk DM, Greenberg BM, Levy M. Epidemiology of Neuromyelitis Optica in the United States. Arch Neurol. 2012;69(9):1176-1180.

[3] Wingerchuk DM. J Neurol Sci. 2009;286(1-2):18-23).

[4] Flanagan EP, et al. Epidemiology of aquaporin-4 autoimmunity and neuromyelitis optica spectrum. Ann Neurol. 2016;79(5):775-783.

[5] Beekman, J, et al. Neuromyelitis optica spectrum disorder: patient experience and quality of life. Neurol Neuroimmunol Neuroinflamm, 2019;6(4).

[7] Eaneff S, et al. Patient perspectives on neuromyelitis optica spectrum disorders: Data from the Patients Like Me online community. Mult Scler Relat Disord, 2017;17:116-122.

[8] Wingerchuk DM, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology, 2015;85(2):177-1.

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