For Newly Diagnosed Patients

To do list 

  1. To begin, it’s so important that you join our SRD5A3 families group on Facebook.
    Here you can connect with other SRD5A3-CDG families and learn about research opportunities and newly available treatments
  2. Join the Cure SRD5A3 newsletter to receive quarterly updates on new discoveries, updates from our research team and more! Enter your information at the bottom of the page.
  3. Contact Vijay Sappani to receive advocacy information.

For Families

There are many things you can do to improve the quality of life of your child. We recommend you review this comprehensive list of tips  for newly diagnosed CDG patients that has been created by the Mayo Clinic. 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.

As symptoms of SRD5A3-CDG may affect several body systems, you may require several specialists on your medical 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 balance issues or  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.