In 2003 Ricky Safer was diagnosed with primary sclerosing cholangitis (PSC). Her doctors were not able to tell her much about the origin of her disease. Nor were they able to provide information about the disease itself. It was known, however, that PSC affects the liver of one person out of 10,000. Currently, the medical community has been unable to find a cure.
Not only does the impact of being diagnosed with a rare disease hit hard, but if there is little information on hand it creates a feeling of isolation, as it did with Ricky.
Ricky made an effort to locate others with PSC and eventually they founded PSC Partners Seeking a Cure. Ricky’s group has joined with others like it and has created a network of powerful communities that include patients, doctors, drug developers, and scientists. They have joined together to create guidelines for clinical care and initiated disease registries as well as patient-driven R&D in each disease area.
As Ricky points out, the agencies are designed so that no one should feel isolated and alone after their rare disease diagnosis.
The Rare As One Network was launched thirty-six months ago. Its goal was to enable research and discovery of rare diseases. Thirty organizations were originally selected, and they now total fifty. The group shares funding, and training and promotes collaboration. They are credited with having an impact on accelerating research.
Congenital Hyperinsulinism International (CHI)
The Congenital Hyperinsulinism International (CHI) organization began in 2005. Congenital hyperinsulinism is characterized by hypoglycemia that results in brain damage to babies if it is not diagnosed early.
In September 2021 CHI hosted a virtual conference with 216 attendees from thirty-four countries. The group consisted of advocates, researchers, and clinicians all focusing on patient voices.
The conference inspired the publishing of three papers that used patient-reported results. They were the first papers published in academic literature for congenital hyperinsulinism. At the same time, the first guidelines for the care of congenital hyperinsulinism were established in an effort to ensure that patient opinions as well as patient experiences will be included in care decisions.
Thanks to CHI, a team of researchers has analyzed the biology of congenital hyperinsulinism and found a gene linked to the disease that had previously been unrecognized. In addition, mechanisms related to low glucose and high insulin levels are thought to be associated with the damage caused by congenital hyperinsulinism.
CHI is waging a global campaign that recognizes glucose as being essential and a vital sign in the monitoring of newborns.
Julie Raskin, the co-founder of CHI, stated that its campaign will help at least 40% of babies with irregular insulin patterns either at or immediately after the baby’s birth. Julie became involved with the crusade as her daughter has been diagnosed with congenital hyperinsulinism.
The philanthropic organization, the Chan Zuckerberg Initiative (CZI), contributed initial support that helped to accelerate the initial research.
About Other Blood Disorders
Hereditary hemorrhagic telangiectasia (HHT) is a genetic blood vessel disease causing bleeding in other organs. The Health Resources and Services Administration (HRSA) has been committed to combating HHT for the past thirty years. Its funding has allowed Cure HHT to create a registry that collects data from HHT patients that will expand clinical research.
Additionally, a Cure HHT therapeutic arm has been created. Guidance from CZI established close collaboration among the scientific and medical communities.
HHT’s executive director, Marianne Clancy, joined HHT as she was a patient and also lost her mother and sister to the disease. She is credited with counseling thousands of people who have lost loved ones due to either the medical community’s inability to perform a proper diagnosis or insufficient medical treatment.
Deficiency of adenosine deaminase 2 (DADA2) is a rare genetic disease that was discovered less than a decade ago. The disease, which usually affects young children, can cause recurring strokes, immune deficiency, severe inflammation, and organ damage.
It too will launch a patient registry and present a paper suggesting optimum practices for use in diagnosing treatment and managing DADA2. By working with biotech and researchers the Foundation anticipates identifying new treatments to develop.
The rare disease organizations share resources and co-develop strategies. More importantly, the organizations that are part of the Rare as One Network are ensuring that patients are at the forefront of decision-making. They have shown that their approach will create treatments and cures that impact thousands of diseases and millions of people around the world.