If you and your family are navigating the path that leads to diagnosis and/or treatment of your child’s neurologic disorder, you may very well feel lost and alone. But, please know that the entire child neurology community is here to support you every step of the way. That’s why the Child Neurology Foundation has partnered with healthcare providers, advocates, and industry to create this child neurology Disorder Directory. It is intended to serve as a road map whereby you can connect to the appropriate partner within the child neurology community who can assist you in addressing your needs as a patient or caregiver, no matter where you find yourself on the journey.
Our aim is threefold: 1. To provide you with credible educational information about specific diseases through articles written by child neurologists for patients and caregivers; 2. To share stories from families whose children have the same diagnosis you face; 3.To provide links to disease-specific advocacy and support groups where additional support and resources are available to you.
With that said, we encourage parents of children with neurologic disorders to consider themselves equal partners in every aspect of their child’s care. You are your child’s most critical resource. Not even the best doctors have your vantage point, since you are with your child every day, observing, recording, and sensing subtle nuances of their condition.
And while the Internet is beneficial, people may ultimately be your most important resource. This can include not only experts such as your child’s neurologist and other healthcare providers, but people who simply listen without judgment or feedback. If you don’t have any of these people in your life, seek out a support group in your community or online. Social media allows families navigating the same diagnosis to connect and support one another.
So, we welcome you to explore this Disorder Directory, ask questions, and provide feedback via this link. If you are a provider or advocate, we encourage you to link these pages to your organization’s website and share them with your patients and/or constituents. We’ve done our best to research and vet the resources included on these pages. Have we missed a trustworthy resource or organization? Please do not hesitate to share it with us. We’ll have our experts review it, and we will add it in the resources section as appropriate. Finally, this information is not intended to serve as medical advice. You should always discuss your child’s care with your pediatric neurologist.
Amy Goldstein, MD
Mitochondrial disease refers to several hundred genetic diseases caused by mutations (or changes) in either mitochondrial DNA or nuclear DNA. These mutations affect the ability for the mitochondria to properly function within a cell. Mitochondria are tiny organelles present in nearly every cell. They are unique in that they have their own DNA, called mitochondrial DNA (mtDNA). One role of the mitochondria includes making energy, or adenosine triphosphate (ATP), for every cell to function. If there is a mutation in the genes that code for mitochondrial proteins, decreased ATP production leads to energy failure of the cell and, eventually, to the organ. Many different organs may be involved. In general, the organs that require the most ATP are the ones with symptoms.
Joanna Blackburn, MD
Childhood movement disorders, taken together, are common. It is difficult to estimate the number of children with movement disorders as statistics about the frequency of these disorders in children is limited. The subspecialty field of pediatric movement disorders is expanding with both increased number of providers and increased knowledge about these disorders. Once rare, pediatric movement disorders specialty clinics are becoming more common in academic medical centers.
Anne Connolly and Michele Yang
Motor neurons are the cells in the spinal cord and brainstem that control voluntary muscle movement. When these cells are damaged, the muscles become weak and get small (atrophy). The muscles of the arms and legs are often involved, and even muscles of breathing and swallowing can be involved.