By nine months old, Bianca was experiencing significant developmental and motor delays. With initial concerns over a brain tumour ruled out, we went in to see an ophthalmology surgeon who suggested she may have a genetic disorder. I didn’t know anything about genetics or rare diseases at that time. After two months of testing, at 15 months old, Bianca was diagnosed with PMM2-CDG.
My path into advocacy was having that initial diagnosis and not knowing where to turn for help. On the night Bianca was diagnosed, I reached out to a doctor I found through an internet search: Dr Marquardt, in Germany. He responded reassuringly and sent me some resources. It was such a relief as everything I had found on the internet was very scary and made it seem like there wasn’t much hope. I took his email back to Bianca’s doctor. Despite this information her doctor continued to tell me that her average lifespan was 12 months and to cherish every day. It was heartbreaking. I connected with specialists across the world and realised I needed to find other families like us.
When you’re a parent of a child with a rare disease you should be awarded a master’s degree: in four to six weeks you become a specialist in your own child’s disorder.
In 2012 I met Vanessa Ferreira (now president and founder of the Portuguese Association for CDG and Rare Metabolic Diseases and operations team member at the World CDG Organization) at a CDG conference in Chicago. We started connecting regularly to find ways we could work together to find and support families. In 2014 I formed CDG CARE as a non-profit organisation in the US and continue to collaborate closely with other CDG organisations.
Q. What services does your organisation provide to patients and families with CDG?
We began with a website to provide newly diagnosed families with the sort of resources and opportunities to connect that I wished I had received when Bianca was first diagnosed. We developed a triage line with a network of doctors with expertise that families could email to support their own doctors.
In 2016, in the US, we held our first educational conference, which was a huge success with around 100 attendees. By that time social media had taken off and we created a Facebook page to begin connecting families. With more and more CDG types being identified, more families were being diagnosed and the community grew rapidly. At this point we really became a global community.
We realised that we are stronger together and we needed to be one voice. Even though there are different CDG types, we all experience a lot of the same signs and symptoms. And so, we stood united.
In 2018 we started delving into research. We have been able to gain the trust of other non-profit organisations, sponsors, industry partners and our patient community, and we now have a sustainable source of fundraised income to fund basic research to clinical trials, family travel grants to medical equipment for families that don’t have resources: it’s amazing.
Q. As a global organisation, how do you reach your diverse geographical community?
We organised a group of families to become the administrators of a global Facebook group and we have families in different countries who voluntarily reach out to new families and welcome them to our community.
The FCDGC consortium has allowed us to network with larger, more established rare disease groups and learn from the wider rare community.
Right now, we are focusing on reducing health disparities among CDG families with different cultural backgrounds and languages. We are looking at translating and developing brochures that are culturally specific and offered in communities that have been identified throughout the USA by our medical professionals. For example, in Houston, Texas, there’s a significant Vietnamese community, and there are CDG families who don’t have any internet resources. We need to ensure they have a place to turn to. In 2019 we partnered with the Frontiers in CDG Consortium (FCDGC), which is a nationwide collaboration made up of nine medical centres across the USA and continues to expand. The FCDGC recently expanded research centres into Belgium and Sweden. The FCDGC continues to look for additional global partnerships so we can continue expand patient access and develop these specialty CDG medical centres which families can turn to within their own country to receive expert care.
Q. What support does your organisation need to move forward with research?
The CDG Community would really benefit from having the next generation of scientists and researchers interested in advancing the cause for CDG. We have pockets of researchers who are interested in researching organism models for developing tests for CDG, or gene therapy, and we could definitely benefit from additional internships and educational opportunities in these areas. Speaking to professionals over the years, they have said that there was just one question on their medical exam about genetic disorders, or about CDG, and that is something we want to change—we want to advance our awareness and interest among the professional community, particularly in the educational environment.
I think that, as with all patient associations, if we have committed doctors and devoted researchers who are informed and engaged, then we are going to be able to improve patient outcomes.
Q. What do you feel is still the biggest unmet need for those with CDG?
We want to see CDG included in prenatal genetic screening; this would prevent so many misdiagnosed families. We know that the prevalence of CDG is much higher than we have been able to prove with diagnosed cases, and we know that there are families that have been misdiagnosed, most commonly with autism or with cerebral palsy. Some individuals do not get a correct diagnosis until they have reached their twenties!
One thing I learned from a recent conference is that we still don’t have a centralised place to keep track of research. For example, we didn’t know that there is some very interesting CDG research being done in Brazil.
A communication platform—a network with details of all CDG research—could really help to accelerate research, encourage collaboration and avoid duplication.
Q. Can you tell us about how your organisation is driving research?
We have a global registry called CDG Connect that we would like all CDG families to enrol in. The registry is a partnership between CDG CARE and CDG Canada, and we would love for all of the patient associations worldwide to join on and help promote it.
It’s truly owned by the families who take the time to input their data via questionnaires designed by patient association groups and medical professionals.
For more information and to take part in the CDG global patient registry go to:
For more information and support around CDG go to:
To continue learning about CDG and patient support you can read the following articles in this Digital Spotlight here:
Rare Revolution Editor