Patient Care

Caring for a patient with NGLY1 Deficiency is not an easy task and all of us experience setbacks and frustrations. That’s what the NGLY1.org support community is here for!

As a caretaker, it is very important to remember that you get all the help you can and take care of yourself first. It is always easier said than done, but so important to ensure continuous high-quality care for our children.

There are many good days and experiences. Most families find that the older the children get the easier it becomes to strike a balance between their medical needs, therapies and enjoying time as a family. Most patients are not medically fragile, but we have seen minor pediatric conditions such as simple infections spiral out of control quickly, which makes it important to take early and decisive action once the patient appears to deteriorate.

NGLY1 Deficiency is a progressive condition.

Patients tend to develop new medical concerns over time like sudden aspiration of foods or liquids where swallowing previously was not an issue as well as increasing muscle weakness that makes walking more difficult. On the other hand, we also find they become more stable, happier and continue to learn new cognitive skills at their own pace as they get older.

 

Medications NGLY1 patients may take:

(be sure to check with your doctor before making any changes to your medication regimen)

  • Anti-Seizure: Levetiracetam (Keppra), Valproic acid (Depakote), Lamotrigine (Lamictal)
  • Eye drops and ointments: frequently during the day and night
  • Reflux
  • Constipation: Stool softener, enemas
  • Pain: Ibuprofen, baclofen
  • Sleep: Melatonin, clonidine
  • Supplements: Ubiquinol, Levocarnitine, Multivitamin
  • Alpha Lipoic Acid
  • Botox injections

Your Healthcare Team

An interdisciplinary team will follow the patients over a longer period of time. These specialists include:

  • Geneticist
  • Developmental pediatrician
  • Ophthalmologist
  • Pulmonologist
  • Sleep specialist
  • Neurologist
  • Gastroenterologist
  • Otolaryngologist (ENT)
  • Orthopedist
  • Physiatrist
  • Audiologist