For the Newly Diagnosed

We know just how devastating receiving a diagnosis of Pyruvate Dehydrogenase Complex Deficiency can be. This page has been written by a PDCD mom, who stands on the shoulders of other veteran PDCD parents, to offer you some comfort, guidance, and a path forward. It’s the “how-to” guide I wish I had. It’s important to remember this is not medical advice. We are not medical doctors and you should always check with your healthcare provider about your child’s plan of care.

Enroll in the PDCD Patient Registry

Your loved one’s diagnosis of Pyruvate Dehydrogenase Complex Deficiency contributes to science’s basic understanding of the disease. Taking 10-20 minutes to enroll in the international PDCD registry is one of the most important contributions you can make to advancing cures for this disease. Have your loved one’s genetic report handy and plan on needing 10-20 minutes of focus time to fill out this form. Visit the Patient Registry page to learn more about the details and benefits of registering.

Assemble Your A-Team

Upon receiving a diagnosis, your child will most likely be followed by many specialties. A metabolic geneticist is usually the lead doctor, but not always. Every child’s “A-Team” will look slightly different, but ours includes: a metabolic geneticist, a neurologist, a complex care pediatrician (this person can be instrumental in coordinating care, helping set up home health nursing, etc.), a gastroenterologist, a dietitian, a home health nurse, and many, many wonderful therapists.

Emergency Letters

Most of our PDCD kiddos have emergency letters with instructions about what to do when they present at the emergency room. It’s essential for ER doctors to be aware of the diagnosis, any medications or food that is contraindicated for our children, and how to keep them metabolically stable. PDCD patients are at high risk for acidosis, seizure, stroke, and coma. You may also want to make your local fire department aware of your child and their unique needs.

Ketogenic Diet

The ketogenic diet is the gold standard treatment for primary-specific PDCD (about 80-88% of cases) and many of our patients have had a lot of success with it. It is a highly specialized medical diet that needs to be initiated under the guidance of a trained dietitian or nutritionist. They will work with you to find your child’s exact keto ratio and to make sure ketones and glucose don’t get too low or too high.

There are currently a few options for ketogenic formula: KetoCal, KetoVie, and Functional Formularies. The Charlie Foundation is a great resource for recipes. They also offer an online keto calculator and educational resources for using a ketogenic diet for medical purposes. Ketolicious Kid is another great resource for recipe inspiration. Avocado is a natural 4:1 ketogenic ratio and a great first food for our babies on keto.

Pay attention to carbohydrates and sugars in liquid meds, especially children’s OTC meds. You may want to consider medical bracelets or medical alerts for car seats indicating to first responders that your child needs to stay in ketosis.

Therapy, Therapy, Therapy

Depending on your child and their exact challenges and/or delays, you should definitely enroll them in your state’s early intervention program so that you can receive in-home weekly therapies. Again, every child’s routine will look different, but ours includes: physical therapy (for gross motor skills), occupational therapy (fine motor skills), vision therapy (many of our children have a CVI diagnosis), and feeding and speech therapy. Many have found intensives, such as the ones they offer at NAPA Center to be beneficial as well.

PDCD Life Hacks

A few final suggestions: 

  1. Dedicated kitchen drawer with organizers or dividers for syringes

  2. Dr. Brown’s formula pitcher for making a 24 hr. batch of formula

  3. Ikea kallax shelf with labeled bins for medical supplies

  4. Home health nursing. If your child has a feeding tube or a trach, you are most likely eligible. Home health nurses are angels on earth and can help you live a somewhat “normal” life and keep your child out of the hospital.

  5. Listen to Effie Park’s Once Upon a Gene podcast which explores the world of raising children with disabilities and rare genetic disorders

  6. For the answer to any other question, please find our PDCD communities on Facebook. We have one group for parents and guardians and one for friends and extended family members.

remember that your kid is still a kid. They are so much more than a diagnosis on a piece of paper. They make their own path.

…and most importlantly,