EvaMagoo.com - NBIA / WDR45 BPAN - Connecting & Sharing to Find a Cure

09/29/2021

AND OFF TO THE ER WE GO (AGAIN). Please pray that we encounter a medical professional who not only listens, however understands the necessity for proper diagnostics.

Why I continue to advocate on behalf of my daughter. It should not have to be this hard.
I have tried to inform
I have tried to educate
I have tried to placate
I have tried to advocate
I have tried to be more assertive
I have tried to play dumb (don't want anyone thinking that I am "playing" doctor)
I have tried not to be one of those "crazy" moms
I have tried to bring print outs of research (highlighted, tabbed, indexed!)
I have tried to listen only (too many questions can sometimes be offensive)
I have tried to be more demanding
I have tried to be less demanding and more commanding
I have tried to understand that not all doctors are researchers
I have tried to understand the limitations of the medical system
I have tried to understand that insurance places limitations of the "quality" of care
I have tried to be grateful for insurance
I have tried to be grateful for healthcare access
I have tried to more emotional
I have tried to be less emotional and more professional
I have tried to be specific about my daughter's needs (bullet points - under 3 minute medical summary and concerns)
I have tried to have no expectations
I have tried to forgive in situations where quite honestly, no forgiveness was truly deserved
I have tried to accept disappointments and move on
I have tried to be in acceptance of all outcomes
"I" have tried
"We" have to do better

09/21/2021

HOW COVID-19 IS CHANGING RARE DISEASE RESEARCH

While Covid has made many aspects of living with a rare disease more difficult, it has inspired policies and techniques that could help rare disease research progress more smoothly both during and after the pandemic.

"Rare disease advocates like the parent-led BPAN Warriors are working with Ciitizen to propel research into less-understood diseases like Beta-propeller Protein-Associated Neurodegeneration (BPAN), which is caused by mutations in the gene WDR45, located on the X chromosome. Individuals with the BPAN mutation are developmentally delayed during childhood, experiencing clumsiness, trouble walking, seizures and generalized cerebral atrophy. During adolescence or adulthood, affected individuals experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline.

“A single lab report or a single test result only tells part of a story,” Sarah Chisholm, Founder of BPAN Warriors, said in a press release about the study’s launch. “Ciitizen provides us with the ability to rapidly assimilate and analyze 1000’s of points of data, across a large cohort of BPAN patients.”

https://medcitynews.com/2021/03/how-covid-19-is-changing-rare-diseases-research/

09/20/2021

The newly launched C-Path Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), a multi stakeholder initiative in partnership with NORD and funded by FDA, is a resource intended to accelerate rare disease research. Approved investigators will have access to deidentified patient-level data.

With the newly announced collaboration with RARE-X and ongoing engagement with rare patient groups and patient-centered data collection platforms already immersed in the rare disease space, such as Ciitizen and AllStripes, RDCA-DAP and multiple rare community stake-holders are developing an ecosystem in which rare disease data are collected, shared and used to further research.

This innovative approach will pave new paths In all diseases in urgent need of new treatments.

Read full release here: https://lnkd.in/gJ7waSse



https://lnkd.in/eYg57ARP

09/19/2021

BE AN ACTIVE PART OF BPAN RESEARCH AND ACCELERATE THE PATH TOWARDS TREATMENT IDENTIFICATION AND IMPROVED CLINICAL CARE!

https://bpan.rare-x.org/

“The RARE-X technology platform and other support services are free of charge to patient organizations,” said Megan O’Boyle, RARE-X patient engagement lead. “This removes the burden for patient groups to become data governance experts and raise additional funding for data collection tools. RARE-X’s patient engagement team members serve as allies, educators and partners as patients begin collecting data on the platform.”

https://globalgenes.org/2021/07/07/patient-groups-begin-using-rare-xs-data-collection-platform/

-X

Rare Daily Staff RARE-X, a non-profit organization dedicated to enabling patient communities to easily manage, aggregate, and share their de-identified data securely, began onboarding patient organizations representing eleven rare diseases. RARE-X’s goal is to provide a platform for patient organi...

09/09/2021

NEW, Discounted Virtual Registration for RARE Patient Advocacy Summit

We’re less than 3 weeks away from the 2021 RARE Patient Advocacy Summit, happening virtually September 27-29. Don’t miss out on what's new including the first-ever international regional meetings with rare leaders, dedicated office hours for you to interact directly with speakers, and sessions on mental health, sexuality, health equity & more. Take advantage of new, reduced pricing for patients, advocates & caregivers by registering today!

REGISTER TODAY: https://web.cvent.com/event/289bd182-abf4-49b0-90be-c2320566c276/regProcessStep1?eType=EmailBlastContent&eId=d0cdefec-3801-48ba-bed7-cd495b6f71c3

09/08/2021

Invitae to Acquire Ciitizen to Strengthen its Patient-Consented Health Data Platform to Improve Personal Outcomes and Global Research

We are thrilled about this next chapter and the opportunities it brings to better serve our BPAN patients.

https://www.prnewswire.com/news-releases/invitae-to-acquire-ciitizen-to-strengthen-its-patient-consented-health-data-platform-to-improve-personal-outcomes-and-global-research-301369974.html

09/08/2021

The results of this survey will help shape the agenda for a series of 3 workshops focused on: Rare Pediatric CNS conditions; Rare Adult CNS conditions; and Health Equity and Inclusiveness in rare CNS conditions.

The survey and workshop findings will be the basis for a report and an action plan to address critical needs, beginning in 2022.Complete the Survey:

https://ceoutcomes.qualtrics.com/jfe/form/SV_cSVjZgR8OdKGs98?eType=EmailBlastContent&eId=d0cdefec-3801-48ba-bed7-cd495b6f71c3

08/06/2021

BE A PART OF PATIENT-DRIVEN DATA COLLECTION EFFORTS AND HELP BECOME PART OF THE PARADIGM SHIFT PAVING THE WAY TOWARDS ACCELERATED BPAN TREATMENT IDENTIFICATION.

RARE-X BPAN PLATFORM Federated Data for Patients and Researchers is now open for enrollment.

ENROLL TODAY: https://bpan.rare-x.org/

BPAN Warriors
RARE - X
NBIA Disorders Association
Autour du BPAN - Page
Stichting IJzersterk
BpanFrance
Hoffnungsbaum e.V.

Home BPAN -Data Collection Program BPAN - Data Collection Program BPAN patients, families, and communities are excited to participate in data collection to expand and improve medical research. By coming to this site, you can begin the first step in making your patient information available to resear...

08/05/2021

Making Collaboration the Rule Rather than the Exception

“The people and organizations in RARE-X are top-notch,” he said. “Their stated goal to empower broad data sharing across the rare disease community is important and would advance collaboration and the finding of commonalities among diseases, both of which would improve the pace of progress in rare disease diagnosis and treatment.”

https://rare-x.org/blog/2020/08/20/making-collaboration-the-rule-rather-than-the-exception/

RARE - X
NBIA Disorders Association
Autour du BPAN - Page
Stichting IJzersterk
BpanFrance
Hoffnungsbaum e.V.

RARE-X is a collaborative platform for global data sharing and analysis to accelerate treatments for rare disease.

08/04/2021

WHY PARTICIPATE IN DATA COLLECTION?
What are the benefits to you and researchers when you participate in rare disease Data Collection Program? Learn more about how your participation in a Data Collection Program can accelerate research and the development of new drugs, devices, or other therapies. Only you hold the key to unlock future discoveries.

https://www.youtube.com/watch?v=ho_qPoXbD9g
RARE - X
NBIA Disorders Association
Autour du BPAN - Page
Stichting IJzersterk
BpanFrance
Hoffnungsbaum e.V.

What are the benefits to you and researchers when you participate in rare disease Data Collection Program? In this video, you'll learn more about how your p...

08/03/2021

IN PARTNERSHIP WITH OUR GLOBAL BPAN AND NBIA PATIENT COMMUNITY ADVOCACY ORGANIZATIONS RARE - X, NBIA Disorders Association, Autour du BPAN - Page, Stichting IJzersterk, BpanFrance and Hoffnungsbaum e.V.

BPAN Warriors is thrilled to announce that the RARE-X BPAN Federated Data Platform for Patients and Researchers will be LIVE this upcoming Friday, August 6th.

Participating in a data collection program is one of the most important things that families with a child with BPAN can do.

Having a robust database will allow BPAN Warriors and our global BPAN and NBIA Patient Advocacy Communities to generate more interest from clinicians, researchers and drug developers that we need, in order to help discover a treatment specific for BPAN.

RARE-X - Federated Data for Patients and Researchers
https://youtu.be/XG4a3E8lPXo

Learn More Today: https://www.bpanwarriors.org/

A quick overview of RARE-X and how it is using Federated Data to help patients and researchers battling rare diseases.