A Pinch Of Thoughts

Tips on Living With a Rare Disease

People living with rare diseases can often face unique obstacles specific to their disease. These may include physical and emotional limitations, stigmatization and misunderstood coping strategies.

Many rare disease patients must endure a protracted journey for diagnosis – known as the diagnostic odyssey – which can be both difficult and isolating, impacting family members who care for these individuals as well. Studies demonstrate this fact.

1. Get Educated

Have a rare disease yourself or know someone with one? Arm yourself with knowledge. Many diseases have advocacy groups which offer information, support and resources. Find one suitable to you and begin using its resources to learn as much as you can about the illness or disorder at hand.

Education about your condition will empower you to navigate its course with family and friends more successfully, giving you confidence to ask pertinent questions when necessary and advocate for yourself when required.

Many patients face what’s known as a diagnostic odyssey,” where they visit multiple physicians over an extended period and wait years for an accurate diagnosis. Global Genes is a nonprofit advocating for people living with rare diseases; their organization believes that awareness can help overcome this hurdle. “No physician could possibly know about all 7,000 rare diseases”, but providing patients with appropriate educational tools before meeting with their healthcare team can allow them to recognize that their symptoms match with that of a rare condition and raise this possibility with them.

By receiving proper education, the right services can be set up faster – enabling both you and your child to begin receiving the specialized care, therapies, services and support that they require without delays that often accompany rare diseases.

Don’t hesitate to seek connections with others affected by a condition similar to yours. Join a face-to-face support group or online community and connect with families experiencing similar struggles – just be sure to use your best judgement in choosing an organization and verify its information is reliable.

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2. Tell Your Story

Living with a rare disease can be daunting. Finding information and support may be challenging, and communicating with medical professionals regarding symptoms that don’t appear on physical exams is often impossible. Furthermore, living with rare disease poses unique challenges for families; children especially can experience the strain of their diagnosis while parents must face anxiety and grief as they try to provide their child with optimal care.

Stories can provide invaluable support. Sharing their experiences will allow others to relate, and may encourage further research of rare diseases in order to take meaningful steps towards improving care within communities.

Medical professionals should listen to stories like these as well. By understanding what it’s like living with rare diseases, healthcare providers can more effectively serve their patients – and also educate them about new research and treatments as well as options available through insurance policies.

As part of its effort, EveryLife Foundation hosts a quarterly webinar series called “Share Your Story,” where rare disease advocates practice sharing their personal and family struggles while receiving guidance from Rare Disease Legal Assistance staff and experienced community members. Finally, participants are encouraged to use storytelling skills as part of advocating for change – the next one will take place June 26. To register click here.

3. Connect With Others

Many individuals living with rare diseases and their carers find support groups invaluable sources of information, advice, emotional, and practical assistance. Their primary purpose is usually to offer services and improve quality of life for individuals and their families – however searching for suitable group resources may prove challenging when no disease-specific support groups exist – in Northern Ireland alone, a PubMed search using this criteria only returned ten relevant papers – most generic in nature without providing specific assistance for patients living with rare diseases.

Parvathy Krishnan has gained much experience living with her son’s genetic condition: constitutional mismatch repair deficiency syndrome (CMRD). At age 4, Ira passed away due to this same disorder and so Parvathy and her husband, Yash, have learned how to cope emotionally with their son’s genetic illness.

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They must navigate what’s known as “the diagnostic odyssey,” the period it typically takes for someone to receive an accurate diagnosis for a rare disease. Unfortunately, during this time they often find themselves excluded from activities that make life enjoyable like physical activities and socializing due to waiting on an accurate diagnosis.

Coping strategies developed by those living with rare diseases vary, from learning how to live day by day and embrace positive aspects of their lives, while keeping it as secret as possible, to dealing with social stigma associated with rare diseases. Caregivers have often been highlighted as important members of a support network for those affected, yet can often go overlooked; without adequate support this can have serious repercussions for those dealing with rare conditions.

4. Stay Positive

Remain positive! While living with a rare disease or condition may feel isolating, remember that you are not alone – many others live with these conditions, providing support online, in person or via social media.

Parents can participate in research into their child’s rare disease or condition, potentially helping improve treatment options and raise awareness. Consult with medical professionals or rare disease advocacy groups about this option for your family.

Consider engaging your siblings in rare disease advocacy by sharing accurate information and resources on social media, reaching out to legislators or opinion leaders, or attending local events like Genetic Alliance Australia that offers families a platform where children with the same rare genetic disease can meet each other.

As soon as your child has been diagnosed with a rare disease, their life plans must change significantly. Although this can be challenging and emotional for all involved parties, it’s essential that both you and your child focus on what’s most essential for both.

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One of the greatest challenges to dealing with your child’s condition can be feeling guilty for its presence, yet it’s important to keep in mind that you did nothing to cause their disease. Physicians or genetic counselors can provide reassurances of this fact and allow time and space for you to experience grief stages such as denial, anger, bargaining depression acceptance. A mental health care professional with experience working on rare conditions could also provide invaluable support.

5. Seek Help

Living with a rare disease can be challenging and isolating, particularly as many do not know they’re not alone. Healy notes that those living with rare diseases are often seen by others as nuisances due to a lack of understanding. Even loved ones who care can struggle to say the right words to reduce worry.

Rare diseases are poorly-known conditions that are difficult for doctors to diagnose accurately, especially since they don’t appear on patient registries or studies like more prevalent conditions do. Even after patients receive their diagnosis, many are left without hope that treatment options exist as nearly 95% of rare diseases don’t have cures available.

Rare diseases can also have an enormously disruptive effect on a family, as life becomes focused around meeting the needs of their child and the care team they enlist for support. This may place additional strain on relationships among siblings, extended family, and close friends within the household.

Parents often struggle to remain selfless in the wake of hearing that their child has a rare disease diagnosis, which is understandable but difficult. Grief often unfolds over several stages: denial, anger, bargaining depression and acceptance – it’s important that when this occurs it be discussed with an experienced medical provider or genetic counselor so as to avoid self-blame.