Utilizing Patient Voices in Rare Disease Research

Rare disease research itself is often overlooked in the medical sphere, so it’s not difficult to imagine how many singular aspects of rare disease research are forgotten about completely. One example is the inclusion of patient voices.

Omitting these perspectives can be detrimental to research, as it makes the view too narrow while also disregarding what the patients want most. Fortunately, organizations are combatting this issue by making these voices heard.

Danae Bartke’s, HCU, and Rare-X

Danae Bartke knows firsthand what life is like as a rare disease patient, as she was born with homocystinuria. She also knows what it’s like to handle the confusion and general lack of knowledge surrounding rare conditions. Speaking to the dearth of information on symptoms, Danae said,

“We always wonder, is it the condition or is it something more?”

This quote illuminates just one of the problems that arises due to the exclusion of patient voices in research. It also explains why Danae was driven to become a co-founder and executive director of HCU Network America.

Now, her organization is teaming up with HCU Network Australia and RARE-X to gather information from homocystinuria patients themselves through the RARE-X platform. Accessible data and the ability to freely make decisions are the major reasons the two advocacy organizations chose RARE-X.

The major goal is to learn more about the disease from the patient perspective. With influence from the people who experience the effects of a condition every day, medical professionals will be better equipped to know what is necessary in terms of research, treatment, and diagnoses.

The homocystinuria community presents the perfect example. A restrictive diet is a hallmark of treatment, which is burdensome, unappetizing, and all-around a negative experience for patients. A common want within the community is relief from this diet. If researchers were to listen to this desire, they could better design clinical trials and focus more on what patients need.

HCU Network America, HCU Network Australia, and RARE-X are releasing a survey to patients to gain a better understanding of patient needs and perspectives. The organizations are currently reaching out to possible participants.

To learn more about this survey, find the source article here.

About Homocystinuria

Homocystinuria is a rare disorder that is caused by genetic alterations that stop the amino acid methionine from being properly metabolized. This causes an array of symptoms affecting the connective tissue, heart, and central nervous system (CNS). These include:

  • Intellectual disabilities
  • Long limbs
  • Seizures
  • Tall, thin build
  • Eye problems
  • Psychiatric disorders

Diagnosis can be difficult because not all of these symptoms always appear, or do not appear in the same way across patients.

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