The Need to Research Mental Health Issues for Rare Disease Patients and Families is Evident

When a patient is told that they have a life-threatening rare disease and then told that there is no cure, every effort is made to attend to their physical needs. Their homes are fitted with aids for the disabled, and financial arrangements are made wherever possible.

Emma Thorpe of RBW Consulting recently interviewed with the digital magazine Pharmaphorum. Emma explained that the consulting firm is using a portion of its funds for a research project that will study the mental health issues associated with a rare disease diagnosis.

A high percentage of rare diseases affects young children. The emotional strain on parents is tremendous. The entire family is affected.

The loss of independence caused by a progressive disease often has a severe impact on the patient resulting in a poor quality of life. Just knowing that there is no cure, or in some cases no accurate diagnosis, is devastating. Currently, approximately three to five percent of the entire world population is impacted by rare diseases.

About seventy-two percent of rare diseases are genetic while others may be caused by allergies or are environmentally related. Symptoms are sometimes so common that it is difficult to diagnose the disease. This often results in treatment delay or a misdiagnosis.

Yet there is the moment when a doctor announces the existence of a rare disease. A moment that will remain with the patient and family forever.

The impact of a poorly managed diagnosis has a harmful effect on all involved. The pressure is immeasurable. At this moment support is needed. Patients and their families struggle to understand and accept the diagnosis. Relationships fall apart and patients lose their desire for treatment.

Emma Thorpe Describes Her Own Experience

Emma described her own feelings when her mother was diagnosed with Primary CNS lymphoma. It is a rare form of cancer involving the central nervous system. She said that she will always remember the exact moment of her mother’s diagnosis.

Emma recounted their struggle to obtain a diagnosis. After finally receiving it, the entire focus turned to her mother’s physical condition. Emma commented that there was no evidence of any mental health discussions or emotional support for her mother or her family. No assistance to cope with the tremendous strain. Apparently, this scene is played out in the majority of rare disease cases.

Emma emphasized that cases like hers and the issues she raised are the reason RBW has funded the Rare Disease Research Partners.

Their goal is to see that the moment when a rare disease diagnosis is given, all aspects, including mental and emotional, are taken into consideration on behalf of the patient, family, and caregivers.

About Rare Disease Research Partners

Tom Kenny, M.D. the CEO of the project will conduct the research. Dr. Kenny explains their goal as using existing evidence to assist healthcare professionals in supporting patients and families at the moment of diagnosis. The initial goal is to support healthcare professionals giving them concise knowledge of best practices and current evidence.

The research had begun in January 2021 followed by appointments to their advisory group. Findings and industry guidelines will be published by the end of 2021.

The team hopes to mitigate the struggles of people living with a rare disease.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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