Ask the Pharmacist: After a Rare Disease Diagnosis, What’s Next?

On Rare Disease Day and every day, Accredo helps patients and caregivers manage complex conditions and therapies.

Too often, patients living with a rare disease face many unknowns. What is known, however, is they are not alone. More than 7,000 rare diseases affect 25-30 million Americans. That means one in ten Americans are suffering from rare diseases and more than half of them are children. 

Accredo’s Rare Disease and Gene Therapy Therapeutic Resource Center® (TRC) team plays an important role as the industry leader in supporting rare disease populations, including guiding innovative support for novel therapies. 

It takes a team of experts to serve patients with rare conditions and to dispense the complex, high-cost medications used to treat these conditions. As a pharmacist dedicated to rare conditions, I provide counseling on complicated disease states, dose preparation and administration that requires patients and caregivers to learn new skills and recognize when to report and address side effects that can signal disease progression or treatment failure. 

Our TRC teams work every day in an environment of high anxiety for a patient and even more so for the parent of a sick child.

The work is rewarding, but what I love most is helping a child start a therapy that will ultimately change the lives of the entire family because proper treatment can transform a child who requires extensive caregiving to an active, thriving child.

These are just a few examples of the patients and caregivers we serve:

  • A mother was concerned about traveling with her child who has spinal muscular atrophy to a site of care hours from home and missing another child’s graduation. We determined a way the younger child could get treatment and she could still attend the graduation.
  • Bringing home a newborn baby is stressful enough. Imagine bringing home a baby with life threatening seizures. We teach these parents how to provide injections in exact doses to prevent seizures.
  • After a horrific car accident, a teenager developed neurotrophic keratitis, a rare eye disorder that affects the cornea. We trained her mother to administer medicated drops so she could be a part of her daughter’s recovery.

What you need to know about a rare disease diagnosis

  1. It’s good to ask questions. Lots of questions. Keep asking until you find the answers. Health care providers may not have familiarity with a rare condition. Seek out providers with experience treating your disorder.
  2. Understand your treatment options.
  3. Advocate for yourself or your loved one.
  4. Connect with other people who understand what you are going through. Patient advocacy groups can provide valuable guidance and support.

Addressing costs and care challenges for rare conditions

Amazing scientific discoveries are life-changing for patients who have a rare disease, and the drug pipeline is full of promise for many more patients. But these costly and complex therapies can place an unsustainable financial burden on payers and patients. 

Beginning January 1, 2019, Express Scripts launched the Rare Conditions Care Value Program® to help guide patients to the most effective care pathway while protecting plans from unexpected, staggering costs. The program aims to reduce the burden of getting to the right diagnosis and treatment, and helps ensure success with that treatment once identified.

On Rare Disease Day and every day, we are at the forefront of providing the most up-to-date treatment and personalized care for our patients and helping our clients through the complexities of specialty care.

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