For Newly Diagnosed

To do list 

  1. To begin, it’s so important that you join our patient group. This will connect you with researchers who will let you know of newly available treatments!
  2. Contact Vijay Sappani to receive advocacy information.
  3. Join our Facebook support group here

For Families

On top of that, there are many things you can do to improve the quality of life of your child. We recommend you take a peek at this comprehensive list of tips  created by the Mayo Clinic. You can also sign up at the SRD5A3-CDG patient group here. Below, we outline the ideal team of professionals that you will need to get the best care for your child.

First and foremost, you will go through genetics specialists and counselors, who are responsible for correctly diagnosing and organizing treatment for your child, while providing support and testing for other family members regarding CDG. Equally imperative is having a primary care pediatrician, responsible for the provision of routine care and checkups. In addition to the coordinating role provided by this professional, a team of nurse practitioners and special nurses will be essential to give support for your child and your family during hospital stays.

Secondly, as symptoms vary greatly between CDG subtypes, and may in turn cause problems in various bodily systems, you will require several specialists on your team. Among these would be cardiologists, to diagnose and treat potential heart problems, endocrinologist for hormonal or growth problems, gastroenterologists to help coordinate care for constipation, diarrhea, or vomiting, and neurologists, who will be needed if your child suffers from seizures, balance issues, and stroke-like episodes (SLEs). Ophthalmologists will help treat vision problems, and registered dietitians will be essential for evaluating and coordinating your child’s nutritional needs.

To further improve your child’s quality of life and help them gain independence, you may require an occupational therapist (OT) to train the child on gross motor skills to improve their ability to dress, bathe, go to school, and so on. Physical therapists (PTs) on the other hand will focus heavily on improving muscle strength and mobility, while speech language pathologists will be very helpful in correcting problems with chewing food or drinking, and certainly by providing speech therapy.

For Researchers and Physicians

Please contact us for educational posters, materials, and any other information or resources you are interested in. We are happy to help you.

Check out our Research to find out about our experimental models, projects in the pipeline, etc.