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Demystifying Four Common Pain Points for Patients Living with Rare Diseases

While it may seem as if 30 million Americans living with more than 7,000 distinct and rare medical conditions have little in common, there is much that unites them. If you are involved in caring, treating, or insuring rare disease patients, recognizing these four frequently experienced pain points is an essential first step toward helping guide their complex path to thriving. This article breaks down four common pain points among patients with rare diseases, the specific condition they are living with, a background on their journey, where they are today, and key learnings.

1. Having an unfamiliar condition lengthens the time to diagnosis and appropriate treatment. The average diagnosis takes six years and may require consultations with up to 12 specialists performing multiple tests.

Living with: hereditary ATTR amyloidosis (hATTR), a debilitating genetic condition affecting 50,000 people worldwide. hATTR is characterized by the buildup of abnormal deposits of protein fibers (amyloid) in the body’s organs and tissues, interfering with their normal functioning.

A challenging journey: Dennis’ diagnosis of hATTR required more than eight years. He consulted with five cardiologists during that time, was misdiagnosed with congestive heart failure (CHF), and endured highly invasive and ineffective treatments, including open heart surgery and a pacemaker implant.

Today: A successful heart transplant procedure followed by regular infusions of a drug designed specifically to treat transplant patients with amyloidosis has restored Dennis’ life.

Key learning: “If you’ve been diagnosed with CHF, but your condition is getting worse, it’s worth asking your cardiologist the question: ‘Is there a chance I have something going on here other than CHF?’ Get tested for hATTR early on to ensure the right drugs are given, and you’re considered a candidate for transplant,” says Dennis.

2. Receiving rare disease therapy as early as possible can be life-changing, but insurance coverage can be difficult and expensive to obtain. Recent studies show that, on average, 85% of orphan drugs on a formulary were placed on its highest cost-sharing tier, and 76% were subject to prior authorization.

Living with: Hereditary Angioedema (HAE), a rare and potentially life-threatening genetic condition that affects about 1 in 10,000 to 1 in 50,000 people. HAE causes edema in various body parts resulting in bouts of extreme abdominal pain and potentially fatal airway swelling.

A challenging journey: After years of ill health and unnecessary surgical procedures, Amy was finally diagnosed at age 35 with HAE III, an extremely rare subtype of HAE occurring most frequently in women. Due to HAE’s rarity, Amy has fought an uphill battle with insurance providers for years to maintain coverage for ongoing doctor’s appointments and expensive but essential medications for treatment.

Today: With help from Orsini Specialty Pharmacy, Amy now receives the medications she needs to live with HAE. This includes twice-weekly infusions of a subcutaneous C1 esterase inhibitor to treat her condition prophylactically. In addition, Amy’s treatment includes injections of a bradykinin B2 receptor antagonist as an emergency medication to relieve swelling during acute attacks.

Key learning: “Orsini has been a blessing from the start,” says Amy. “If I didn’t have them, I don’t know where I’d be with any of this stuff. My rep at Orsini – I know him as well as my other friends.”

3. Clinical trials can offer a life-changing path to health but can be challenging to find and access for patients with a rare disease. More than half of clinical trials for rare diseases are discontinued or remain unpublished for up to four years after completion, leaving many patients to continually seek new solutions.

Living with: x-linked hypophosphatemia (XLH), a rare genetic disorder affecting 1 in 20,000 individuals by weakening bones, muscles, and teeth by depleting phosphate in the body.

A challenging journey: Erin, who had managed XLH throughout her life, gave birth to her son Jireh without complications, but he inherited the condition. By age four, it was clear that he was reacting poorly to standard treatment for XLH, as he suffered from calcified kidneys, constant diarrhea, nutrition and absorption issues, and severely bowed legs. Erin despaired as she watched her son become entirely sluggish.

Today: Desperately searching for a solution, Erin finally discovered a clinical trial with human immunoglobulin treatment, using an antibody to block FGF23 activity and help restore phosphorus absorption in the kidneys. The impact on Jireh’s life was dramatic. Jireh is the first family member with normal phosphate levels two years later. His bone plates are meeting properly, his energy is restored, and he’s able to eat foods previously impossible for him to digest. He is blossoming in ways Erin could not as a child growing up with XLH.

Key learning: Erin’s extended family have all benefited from the trial, now using the medication and reporting notable improvements in their condition as a result. “At 87, my grandma is the oldest person on the medication now,” Erin proudly proclaims.

4. A child born with a rare disease may require an overwhelming amount of financial support. The financial burden of treating a rare disease is significant, with healthcare costs three to five times greater than people without a rare disease. A nearly 10-fold increase in costs is reported for children born with a neuromuscular disease.

Living with: Spinal muscular atrophy 1 (SMA1), a genetic neuromuscular disease affecting approximately 25,000 Americans. SMA1 causes muscles to become weak and atrophy, and without intervention, patients experience critical organ failure. In children, the condition is generally considered fatal.

A challenging journey: The prognosis was grim for Sienna, born with SMA1 in 2018, but her parents were determined to fight for her with every tool available. A gene replacement therapy introduced in 2019 offered the family new hope – an opportunity to dramatically change the course of her disease by slowing down its progression. However, the newly approved treatment, which required millions of dollars in research and development, was extraordinarily expensive and not covered by commercial insurance providers. Sienna’s parents worked with Orsini Specialty Pharmacy to obtain coverage for the costly infusions, eventually obtaining the needed financial support from Medicaid. “Once we finally got Sienna approved, a representative from Orsini called, and we shared in the excitement,” remembers mother Emily. When younger brother Wesley was also diagnosed with the disease, in utero, they started the process anew, with Orsini’s help.

Today: Both Sienna and Wesley continue to grow and develop, a miraculous turnaround for children diagnosed with SMA1. Wesley, who received the drug at ten days old before any SMA1 symptoms occurred, is expected to have almost all of the usual physical abilities and strengths and the potential to grow up with functioning motor neuron cells. Because Sienna’s SMA1 was treated later, she requires additional care, including a BiPAP machine for respiratory support and a pulse oximeter to continually monitor her oxygen saturation and pulse.

Key learning: “Seconds and minutes and hours make all of the difference,” says father Shayn. “With Sienna, we fought for months to get her treatment. With Wesley, he was able to receive treatment at ten days old. We were ecstatic.”

Providing patients with comprehensive and compassionate care since 1987, Orsini Specialty Pharmacy is the leading independent specialty pharmacy focused on rare diseases, gene therapies, and complex conditions. Orsini’s high-touch care model centers around experienced, therapy-specific teams that provide personalized care to patients. Learn more about Orsini’s essential services for rare disease therapies and our dedicated support for physicians, manufacturers, payors, and patients. You can also read more about our dedication to patient care in our patient journey stories.