Managing PMM2-CDG
“The MOST impactful support has come from creating a team of therapists, doctors, friends, and family members…They see us, our family, our daughter for the bright light that she is. And that makes all the difference.”
– Caregiver of Emma, a patient living with PMM2-CDG
Finding the Right Doctor
Since PMM2-CDG is a rare condition, not all doctors will be familiar with it. It is important to find a doctor who is knowledgeable about PMM2-CDG and the patient experience to ensure the best care for you or your child.
Talk to your primary care provider or genetic counselor (if you have a confirmed diagnosis) to learn about centers in your state with providers that treat rare genetic diseases. Many university hospitals, children’s hospitals, and other major medical centers have specialty clinics focused on rare genetic diseases.
What to look for in a CDG provider:
- Often a medical geneticist, or a provider that treats rare genetic disorders
- Part of a clinic or center within a larger hospital system offering a team of different specialties to support care
- Has experience treating PMM2-CDG or other rare diseases
- Willing to collaborate with local doctors as part of a multidisciplinary care team
Remember: Routine visits with a doctor experienced in treating CDGs are important to make a treatment plan, monitor your condition, and help with any changes that may occur.
Patient Spotlight
“We’ve had several specialists in Trevor’s life [including neurology, metabolism, hematology, and ophthalmology], but as he has grown, gotten stronger and more stable, we were able to graduate from
certain care.”
– Caregiver of Trevor, a patient living with PMM2-CDG
Building Your Multidisciplinary Care Team
Since PMM2-CDG affects so many body systems, you may need to see many different physician specialties to monitor and treat relevant symptoms.
Your care team may include:
Even if your child does not currently experience issues related to all of the above specialties, it is helpful to have some of these specialty doctors as part of your care team to obtain a baseline assessment and monitor for changes in symptoms. A doctor who specializes in CDGs or other rare genetic diseases can help you to create a multidisciplinary team based on your or your child’s needs.
Support for Patients and Caregivers
While managing your condition or caring for someone diagnosed with PMM2-CDG can feel overwhelming, there are many tools, resources, and communities that can help.
“Since finding out about Sammy’s PMM2-CDG diagnosis, I became obsessed with learning everything I could about the condition. Even though I’m still new to [the online CDG] community and just at the beginning of this lifelong journey, I feel like I’ve found the safest and most understanding place I could possibly be.”
-Caregiver of Sammy, a patient living with PMM2-CDG