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How Does It Feel Like to Live With a Rare Disease?

Dealing with a rare disease is an ongoing learning process amid the lack of a cure or treatment for one’s specific health issue.

But the challenges that come with such ailments can make patients feel alone due to limited access to specialists and the long wait to receive a diagnosis.

Many individuals find help along the way, whether in person or through online communities.

Still, the quest for a solution that can significantly improve a patient’s condition will likely outlive the affected person’s lifetime. 

What difficulties do rare disease patients and their caregivers have to overcome? How can they manage the impact of these health issues on their daily living situation?

This article will help you understand the realities that the rare disease community has to face and the management strategies that help them survive.

Challenges Faced by Rare Disease Patients and Their Families or Caregivers

A health condition is a rare disease if fewer than 200,000 people experience it annually. 

The National Institutes of Health and the National Organization of Rare Disorders recognize more than 7,000 rare diseases, affecting up to 30 million people in the U.S. 

Some ailments got their names from doctors that first described them. Such is the case of the neuromuscular disorder Charcot-Marie-Tooth disease (CMT). 

Jean-Martin Charcot of France—the father of modern neurology—his compatriot Pierre Marie, and Howard Henry Tooth of the U.K. identified the nerve disorder in the 1880s. 

Meanwhile, the term for other rare diseases, such as mesothelioma, comes from the body part that they affect. This cancer’s tumors form in the mesothelium—the protective layer that wraps around body cavities and internal organs. You may learn more about this disease by visiting The Mesothelioma Group Site.

CMT patients experience weakness and loss of sensation in their lower limbs and may later feel the same in their hands and lower arms. As the disease progresses, patients’ daily function diminishes, impacting their quality of life.

Living with CMT

Some patients will live without difficulty through early diagnosis and necessary care. 

However, the disorder still affects every aspect of life in most cases due to nerve damage and its limiting effects on physical movement.

Impact on Physical Abilities

CMT is a progressive disorder or a condition that grows worse over time. The weakening of the muscles due to nerve damage can result in the following:

  • Difficulties performing upper and lower body movements: Squatting, stooping, climbing, and kneeling can be painful or impossible.
  • Foot deformities: CMT may result in high arches, curled toes or “hammertoes,” foot drops or difficulty lifting the foot at the ankle, and flat feet in some cases. 

Some patients’ legs may eventually look like “inverted champagne bottles” due to muscle wasting or loss of muscle bulk.

    • Walking problems: As joints grow weak or stiff, CMT patients may need a cane or walker to keep their balance. In the worst cases, they may have to use a wheelchair or scooter. 
  • Loose grip: When hands and lower arms are affected, patients are unable to button their clothes, move zippers, or grasp handles. In the worst cases, they may develop wrist drop. 

Patients can also experience burning pain from damaged nerves (neuropathic pain). Or their pain can be due to the effect of damaged nerves on tendons and ligaments (musculoskeletal pain). 

CMT patients can also experience fatigue, cold hands or feet, numbness, or tingling in the extremities.

Impact on Mental and Emotional Well-Being

A 2020 study reported that some patients with CMT showed abnormalities in reading and performing executive functions or mental processes involving memory, focus, and planning.

The affected patients had a condition called CMTX, as the disorder results from mutations of the X chromosome.

Rare Disease Management and Potential Treatments

While research is ongoing for many rare disorders, 95% of these diseases have no treatment. The same is valid for CMT, where current disease management options include rehabilitation therapy, supportive mobility devices (leg brace AFO,s), surgery for bone deformities, and medication for pain. 

These treatments include:

  • Physiotherapy: Physiotherapy includes massage and low-impact movements such as stretching, moderate weight training, walking, yoga, and swimming.
  • Occupational therapy: An occupational therapist can equip patients with tools or strategies so they can independently do tasks. 

For instance, therapists may recommend clothing with clasps instead of buttons to ease dressing up and magnetic tubes for objects.

    • Surgery: Several types of surgery can correct deformities. These procedures include osteotomy (removal or repositioning bones) or arthrodesis (fusing joints) for flat feet, plantar fascia release (repositioning inflamed tendons on one’s heel), or spinal surgery.
  • Orthopedic devices: These aids can include ankle or leg braces, walkers, insoles in your shoes or customized shoes, and thumb splints for your hands.
  • Pain relievers: Medications to relieve pain include paracetamol, non-steroidal anti-inflammatory drugs (ibuprofen), antiepileptic drugs, and antidepressants.

Meanwhile, some self-care tips for patients include:

  • Maintaining a healthy weight to prevent putting more strain on one’s body.
  • Cleaning feet regularly to prevent injury or infection.
  • Avoiding caffeine and nicotine if one has tremors.
  • Reducing alcohol intake.
  • Avoiding medicines that may cause nerve damage.

To learn more about living with CMT, visit hnf-cure.org


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