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CDG Challenges

Today families, people living with CDG and healthcare professionals still face many challenges surrounding the CDG world.

Families and people living with CDG face many challenges 

  • Sometimes it’s hard to understand some concepts. This happens because information is not in plain language. 
  • Families and people living with CDG usually experience a lack of empowerment regarding clinical trials. 
  • Caregivers often experience intense feelings. This experience can be overwhelming because the future is uncertain and families and people living with CDG usually feel they don’t have control over it. 
  • There is a lack of psychosocial support for caregivers. 
  • In many cases, parents have to reduce their working hours or even quit their jobs to take care of the person living with CDG.
  • Besides having less time, caregivers tend to support the direct and indirect costs related to the condition (appointments sometimes far from their residency and treatment are some examples).
  • There is only a limited number of people living with CDG and families who are actively involved in advocacy activities.
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Challenges faced by healthcare professionals 

  • A few years ago the nomenclature of CDG was changed. Currently each CDG is known by the official gene name followed by CDG (for example: PMM2-CDG). In some articles we can find the old nomenclature which makes it harder to reunite information.
  • Even though our knowledge about CDG is increasing faster than ever, there still is much more to be discovered. This mainly happens because CDG are complex in many fields.
  • Lack of experience in the field leads to frequent delays in diagnosis and hampers the access to adequate medical care.

 

Several research works dedicated to learn the major challenges faced by the CDG community have been published: 

 

CDG Solutions

There is hope. If you look to the bright side, you’ll find that in recent years awareness and basic and therapeutic research has been increasing. Possible solutions for the challenges shown above are nowadays led by CDG patient advocacy groups in collaboration with key stakeholders. For instance, CDG patient associations play a major role 

  • As they provide informational, instrumental, and social support for the community. 
    • CDG and Allies and the Portuguese Association for CDG led the first  CDG patient  journey mapping to cover touchpoints and interactions with and between different stakeholders in the healthcare setting. This project allows to map the functional, the clinical, and the emotional journey. An emotional journey is what gives you the real holistic view of the person going through this journey. It gives you the answer to the following questions: What are their experiences? How do they live through this journey? What is the context? What about their families and their relatives? What about the personal situation? Capturing these people’s experiences and their points of view helps thinking about making their lives better and improving their experience, knowledge, the data, and the insights about people’s experiences and their points of view. Read CDG patient  journey mapping
  • To facilitate easy to understand , exchange experiences and even participate in studies not only on a local scale but also internationally.
  • To collaborate with collective efforts like FCDGC (Frontiers in Congenital Disorders of Glycosylation Consortium), CDG & Allies - PPAIN and other associations to support research. Move ahead within https://worldcdg.org/ and check the section devoted to CDG patient advocacy groups.

 

  • To boost a closer relationship between people living with CDG, their families and professionals.This is important because research and care become focused on people’s needs.

 

Other possible long term solutions would be 

  • Getting more funding from public entities, the government or even the pharmacy industry.
  • Increase co-creation of Digital solutions such as the use of AI (artificial intelligence) to track people living with CDG symptoms and search for treatments.
  • Engage new professionals who have more knowledge in the field.
  • Make sure the actual students (future professionals) are instructed with this reality for example giving the opportunity to engage in volunteer programs. 

 

Because CDG is a never ending world and there are always things that can  improve people living with CDG’ and families' lives, possible innovations in the fields of civil society, care and digital are being discussed.

 

The take home message is that with communication and cooperation between the involved parties, the challenges will be easier to overcome, improving  people’s experience and making their lives better.

 

Several research works dedicated to learn the major solutions faced by the CDG community have been published: 

 

For further learning move ahead to our community tailored sections across https://worldcdg.org/ and read the following reliable sources of information: 

  • Section dedicated to CDG from Children’s hospital of Philadelphia here
  • NORD offers an overview about CDG here
  • Visit the new Genetic and Rare Diseases (GARD) Information Center Website here. Also to know its features watch Rare Diseases are Not Rare – A Training on Rare Disease Resources
  • Mayo Clinic Congenital Disorders of Glycosylation (CDG) Clinic sees website here
  • Orphanet, the portal for rare diseases and orphan drugs offers summaries here

“It is of extreme importance that every person in the CDG community becomes one united voice and takes every conquest in a specific CDG as a victory for the whole community. It is important to keep this in mind because CDG are all connected and a new finding regarding one of them will give tools to improve basic and therapeutic research in the others.” By Vanessa Ferreira, sister to Princess Liliana who lives with CDG.

The therapeutic pipeline of potential treatments for CDG has never been so full of promise!

Secure that you are up to date about basic and therapeutic CDG advances, and join our mailing list:

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For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

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Authors

Vanessa Ferreira and Rita Francisco (CDG & Allies, World CDG organisation and Portuguese Association for CDG), Alice Neves from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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CDG
Congenital Disorders of Glycosylation
CDG Challenges
CDG Solutions
Qualitative Research
Mixed-Research Approach
Participatory Approaches

Page modified at Wednesday, June 22, 2022 - 15:05