A blog about the grief after losing a child to Niemann Pick, Type C, a rare disease, and how I'm moving forward with my life.
Sunday, September 15, 2013
This post is not designed to provide medical advice, just awareness. If you have any questions or concerns, please contact your local physician.
What is Mitochondrial Disease?
Mitochondria exist in nearly every cell of the human body, producing 90
percent of the energy the body needs to function. In a person with
mitochondrial disease, the mitochondria are failing and cannot convert
food and oxygen into life-sustaining energy. For many, mitochondrial
disease is an inherited genetic condition, while for others the body's
mitochondria can be affected by other environmental factors.
Possible Symptoms of Mitochondrial Disease: (Think mitochondrial disease when three or more organ systems are involved)
Brain •Developmental delays •Dementia •Neuro-psychiatric disturbances •Migraines •Autistic Features •Intellectual or Cognitive delays •Seizures •Atypical cerebral palsy •Strokes
Nerves •Weakness (may be intermittent) •Absent reflexes •Fainting •Neuropathic pain •Dysautonomia - temperature instability& other dysautonomic problems
I spent 4.5 years getting a diagnosis of Niemann-Pick, Type C for my son and 4.5 months to live with it. Daniel, my little soldier, spent almost 5 years with us, Dec 7, 2006 - Nov 11, 2011. I have been blessed with a beautiful healthy daughter, born in August 2013.