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Care Beyond Diagnosis is a small, non-profit organization run by a team of three people, but it takes on an important task for the rarest rare diseases by focusing on clinical guidelines that make it easier for doctors to treat patients with the disease. of these troubles.

In April, he published the first clinical guidelines for CLN2, also known as late infantile Batten disease, which were published in the Orphanet Journal of Rare Diseases. The organization recruited 21 experts in the CLN2 disease space in a three-year process to provide recommendations on 13 topics ranging from general disease descriptions to pain management to end-of-life care.

Jeffrey Donohue poses for a portrait in 2018 (Photo by Yanique Donohue)

“We just want recommendations for as many rare diseases as possible to be validated and published so that parents have more information validated and available,” said Jeffrey Donohue, co-founder of the group, in a telephone interview with his wife, Yanique Donohue, the head of the organization. other co-founder.

What makes Care Beyond Diagnosis different from other organizations is that part of the money received in the form of clinical guidelines grants goes towards small donations to people with rare diseases in developing countries. She recently purchased a hearing aid for a patient with a rare disease in Bangladesh and between 2018 and 2020 supported a Zimbabwean charity, Rare Diseases and Disabilities Africa Foundation, established by Tinotenda Mudarikwa, who suffers from a rare condition called imperforation of the anus, which causes an unborn person to have an absent or abnormally placed anus.

Care Beyond Diagnosis was born out of Yanique’s experience with her younger brother, who as a child fell and came out of a coma and was ultimately paralyzed on the right side of his body. As he recovered from the mysterious illness, identified as a lysosomal storage disorder, it forced her and her family to move from South Africa in 1996 to the UK for better care, and she never really adapted to change.

“I’ve always had this feeling that was so unfair, and there has to be another way to do it,” said Yanique Donohue from North Carolina, where she, her husband and their three children now live. The idea that families should have the right to quality care regardless of where they live inspired Yanique to create the foundation in 2016. “We knew we wanted to help patients with rare diseases, especially in countries in development.

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CLN2 guidelines

Participation in MONDE 2017Symposium in San Diego, which focuses on lysosomal disease research, and meeting other families changed Jeffrey Donohue’s perspective and led him to jump head first into the organization his wife was building.

“It’s just this wonderful community of people who want to make a difference for others, given how bleak it can be for their own family members. It’s really inspiring, ”said Donohue.

He left his job, where he was responsible for national retail accounts for an Italian tile manufacturer, to become project manager for guidelines at Care Beyond Diagnosis.

After learning more about what the guideline process involved from Yanique’s father, a metabolism physician who runs a for-profit medical training company, and other experts in the field, Donohue began working on the CLN2 guidelines in 2018.

Jeffrey and Yanique Donohue at the WORLDSymposium Orlando in February 2019 (Photo courtesy of Jeffrey Donohue)

He landed on Batten’s disease because it already had an approved enzyme replacement therapy, Brineura (cerliponase alfa) from BioMarin, but lacked validated advice that could help get it into the hands of people who did. need. The UK at that time did not cover treatment for a disease that “steals the childhood of a child and its family,” Donohue said. He saw a need and Care Beyond Diagnosis stepped in to fill it.

Guidelines must be independent and transparent to be well received by the medical community. Donohue therefore ensured that the organization played a facilitating role in discussions between clinicians, researchers and patient advocates rather than a leading role.

He also used an expert mapping tool that selected the best group of people based on the number of posts they were involved with, how often they were cited, and their involvement in science and advocacy conferences. patients. From this group, two co-chairs were chosen to lead the guideline development process; they always had the last word. A 21-person expert steering committee to advise, direct and drive the program has also been formed.

The co-chairs then uploaded clinical care questions or statements about the disease, based on a literature review, to a virtual engagement platform called Within3 for discussion by the steering committee. Experts commented on the 73 initial statements made by the Co-Chairs, wherever they are. In two weeks, they had left 1,100 comments. Donohue says this virtual system has helped the organization keep costs down by not having to cover travel expenses for board members.

Further discussion narrowed down these 73 statements to 54 in 13 different areas. The healthcare providers recommended by the steering committee then validated these statements on a 10-point scale, with one meaning strongly disagree and 10 meaning strongly agree. The steering committee attempted to achieve geographic representation of clinicians around the world, as Care Beyond Diagnosis’s main mission is to improve the quality of care for developing countries.

Once the statements – or as Donohue describes, the “structures” of the guidelines – are verified, medical editors write a manuscript and submit it to journals. For Batten disease, the Co-Chairs decided that Orphanet would be the best place to post these guidelines.

The final step in the process uses an AGREE II assessment, which scores guidelines based on scope and purpose, stakeholder involvement, rigor of development, clarity of presentation, applicability and editorial independence. This assessment gave the Care Beyond Diagnosis guidelines a score of 5.7 out of 7. According to Donahue, this is the highest score to date for a rare disease guideline.

Focusing on creating these rare disease guidelines plays a central role in Care Beyond Diagnosis’s mission to improve the quality of life for all patients, regardless of their location.

“We really want to share as much as possible with other advocacy groups to get them a little bit to get started on the guidelines themselves because it can really make a difference for a patient and for families.” who are struggling to give their patient the best chance, ”Donohue said.

Now, about three months after they were posted, Donohue is focused on tracking the distribution of these recommendations to make sure they reach the people he’s trying to help. And to make them more widely available, Donohue relies on the network of the 21-member Steering Committee and Co-Chairs to effectively disseminate information.

Care Beyond Diagnosis will continue to publish guidelines to help rare disease patients and their families have a clear medical path once treatments become available. And with over 7,000 known rare diseases, this work will probably never stop. The organization is in the process of drafting guidelines for CLN3 disease, also known as juvenile Batten disease.

“Once you have a treatment and once you understand the disease, you need to have that third piece of recommendations validated, just so that there are no more obstacles from the time the onset of the disease. symptoms begin for a patient, ”Donohue said.

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