In this Issue
- Fundraising Efforts
- Voices of the Community
- Research Highlights
- Therapy Tips from the Experts
- CDG Conference Highlights
- May 16th is World CDG Awareness Day!
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Your Support Makes A World of Difference
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CDG CARE is excited to announce that we have officially launched our 2020 CDG CARE Fundraising Campaign!!
Join our efforts to raise
$50,000
to advance CDG awareness, research and resources for families that will help to improve the lives of children and young adults diagnosed with CDG!
We are proud to share that through our CDG Community fundraising efforts we have currently funded $150,000 in research projects, $15,000 in family travel scholarships and $10,000 to our fellow CDG Patient Associations to collaborate and support their initiatives.
In light of the current economic situation, we have decided to extend this year’s Fundraising Campaign to run through July 31
st.
So if you are organizing or running in a 5K run/walk, planning a virtual event, asking families to donate for your birthday to your favorite cause, or doing a tribute in honor of a loved one... think of contributing to CDG CARE and helping us further education and research for CDG!
The new and improved GoFundMe Charity platform is easy to use. Just use the link below to visit our
CDG CARE Fundraising page
and SHARE this opportunity with you family, friends and community supporters! You can even create your own team or event supporting CDG CARE by clicking
HERE
.
Join our efforts to raise CDG Awareness in your Community and Nationwide!
We encourage everyone to share! Spreading the word helps us spread awareness for CDG!
It is easy to support our mission by making a tax-deductible donation and clicking on the link below.
You can also make individual donations on our website by visiting our Donations and Support page by clicking
HERE
.
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Voices of the CDG Community
By Sarah Curran
Attending the 2020 CDG conference was an incredible experience and I am so grateful to CDG CARE for organizing these events. As a new parent, it can be overwhelming at times to understand the wave of information being thrown at you. Taking a step back to connect with other parents and learning about current and upcoming research keeps hope alive.
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Continuing to work for our CDG Patients through Covid-19
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By Andrew Edmondson, MD, PhD
It was great to see those of you who were able to make it to San Diego for our Biennial US CDG conference! The conference was an amazing opportunity to make and renew personal connections and to share all of the exciting new developments and opportunities in CDG research and clinical care. The conference had hardly ended when all of the new restrictions to encourage social distancing upended everyone’s lives. You have been asked to stay at home to protect yourselves and others. Routine clinic appointments have been cancelled and rescheduled. Even the research laboratories have been shut down and scientists asked to stay home.
However, in this time of upheaval, we want to reassure you that the important research, collaborations, and clinical care for CDG patients and that was discussed at the CDG conference continues. CDG clinical experts are converting their clinics to enable telemedicine video visits so that your children can be seen and your questions answered. Our US CDG clinical experts have collaborated with CDG experts around the world to provide COVID19-related guidance as it specifically relates to CDG which is available
HERE
.
We will continue to provide additional guidance as more is determined with regard to COVID19 and CDG. The scientists continue to analyze data from home regarding the identification of new CDG biomarkers for diagnosis and guiding management. The FCDGC continues to work to get the regulatory framework in place so that there will be no delay to enrolling CDG patients in the Natural History study and our exciting clinical trials, some of which we may even be able to do through telemedicine. Opportunities for your involvement will be made available through CDG CARE and our newly launched FCDGC website which can be accessed by clicking
HERE
.
During this time of uncertainty, we want to reassure you that all of the CDG professionals remain engaged and committed to meeting the needs of CDG patients and families. We understand that your hopes and the ongoing medical needs of CDG patients remain an urgent priority that are even more important, if anything, in the face of the pandemic COVID19 threat. We are happy to share a picture from our most recent Zoom Meeting of our FCDGC CDG professionals continuing to work on your behalf!
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Future CDG Therapies on the Horizon
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We are delighted to share this
GIM Podcast
from our very own Dr. Eva Morava discussing her most recent study regarding galactose use in patients with SLC35A2-CDG.
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Family of CDGs Keeps Growing
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By Andrew Edmondson, MD, PhD
We continue to increase the number of genes associated with CDG disorders. There are approximately 400 genes in the human genome related to glycosylation and almost 150 of them have been associated with CDG to date. In this month’s issue of
Brain
, we have identified another CDG associated with biallelic mutations in
GALNT2
. Unlike the majority of CDGs described so far which affect N-glycosylation, GALNT2 affects a different glycosylation type, O-glycosylation. GALNT2-CDG patients typically have global developmental delay without speech, epilepsy, decreased linear growth, white matter abnormalities on brain MRI, and low HDL-cholesterol.
We modeled GALNT2-CDG in rodent models and showed that these animals have growth differences and developmental and behavioral abnormalities, similar to what is observed in GALNT2-CDG patients. The patients and rodent models show that GALNT2 function is important in many organs of the body. The high prevalence of neurological disease among CDG patients highlights the brain’s dependence on various glycosylation types, including GALNT2-mediated O-glycosylation. Ongoing research studies are trying to identify the role of GALNT2 in brain cells and what proteins require GALNT2-mediated O-glycosylation for normal function.
We collaborated with CDG & Allies – PPAIN to create the awareness video about GALNT2-CDG, which is available by
Clicking HERE
or on the image above.
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Transition and Tips for Teletherapy Success
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By
Marissa Markham, MOT, OTR/L
It’s easy to be worried about the future of your children at a time of so many unknowns. Right now, some children that have had daily therapy sessions to help aid in the progression of their development are left with an option for teletherapies with their providers. Many parents are choosing this unique opportunity so their child continues to learn and gain skills that was being worked on before the Covid-19 pandemic hit. Here are a few tips to make the most out of these teletherapy sessions from a leading licensed occupational therapist who is currently providing online therapy to her clients.
It’s okay to let your child lead the session.
If your child is uninterested in playing with a specific toy, is not showing your therapist the skill that you’ve been working on or their attention is not there, it’s okay. You will get more out of the session when everyone is calm. We will get to those skills at a later time.
Your therapist is quiet because they are observing.
If you are wondering why your therapist is not talking, it’s because we have to be more thorough with our observations since we are not able to see them in person. We are not judging you, we are noting your child’s movements and responses in order to see what areas they grew on and what area needs improvement. By doing this we can help suggest/guide different strategies or techniques. This is actually an opportunity for us to sit back and see your child at a different angle. So, just keep playing normally and let your therapist see the “full picture”.
Keep your therapist updated!
We want to hear all of your ideas! It means more to us since you know your child the best. We are celebrating the small and big wins right beside you and look forward to catching up. Your recommendations are highly encouraged and we want to know of any changes, as well as how you and the rest of your family is coping.
We are so sad we can’t be there.
We have become a part of your child and your life. We are so saddened that we can’t be there during this time. Just know, we worry about all of you, think about your child often and miss the relationship we had. For the families that are aging out of Early Intervention right now, it breaks our heart we missed the last few months and are unable to say goodbye in person.
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CDG Conference Highlights
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The CDG Family Conference was held March 1st in San Diego, CA. Hosted in collaboration with the Sanford Burnham Prebys Medical Discovery Institute and the 11th Annual SBP Rare Disease Day Symposium, we were honored to welcome 52 CDG families and 116 medical professionals and scientists from around the globe!
If you happened to miss a session, or need a quick catchup on a specific clinical or therapeutic topic as it relates to CDG, we encourage you to visit the
CDG CARE YouTube Channel
to view the post conference education program containing each session and is freely available to our Community!
You may also
Click Here
to read the full conference summary article.
As always, we hope everyone enjoys viewing and sharing this year's conference "Best Moments" video clip and we look forward to seeing you all in 2022!
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The Official Countdown has Begun!
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May 16th is World Congenital Disorders of Glycosylation (CDG) Awareness Day!
Calling all Families, Caregivers, Communities and Professionals to support CDG!
In collaboration with APCDG and the newly-formed World CDG Organization, you can join our 5th annual World CDG Awareness Day Campaign through social media and/or sharing your efforts by using the resources we have available on our website!
Follow our progress! Join our Campaign! As we Paint the US and the entire World GREEN showing support for May 16th – CDG Awareness Day!
Click Here
to read the full CDG Awareness Day article.
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