I haven't been able to find any video on the internet of children River's age with this disorder so I thought, it would probably be good to make one in case it can help use network or in case it can help another family, and even just so that some of our friends and family have a better idea of what Riv experiences. My daughter River Magnolia is 18 months old. Approximately 5 months ago she rapidly developed a movement disorder called Paroxysmal Kinesigenic Dyskinesia. This is a rare neurological disorder that not much is known about, involving involuntary movements, spasms, and contraction of muscles. Rivers episodes can look like jerking of the jaw, arching of the back, shrugging of one or both shoulders, contortion of the arms and hands, forced blinking and cramping of facial muscles, whole body tightening, leg cramping, and forced tongue protrusion. Episodes last anywhere from 3 to 20 seconds and usually come in clusters. Without medication River experiences anywhere from 30 to 50 clusters of episodes per day, with a range of body part involvement and a more severe, jerking, cramping quality. Since starting Carbamezipine, also known as Tegretol, River has good days and bad days. She can go for days at a time with as few as 2 episodes per day, but some days she can have up to 15 clusters. River is as sweet as can be, and other than this disorder is hitting all of her developmental milestones. We are working to find new and adjunctive therapies to help with River's breakthrough episodes, and hope to one day help River to be symptom free for extended periods of time. Not a lot is known about PKD, and River is one of the youngest on record to develop this disorder. PKD can be hereditary (familial PKD), although a gene has not been directly linked, but for others there can be no family history. Most believe the symptoms of PKD stem from an underlying ion channel disorder and stemming from abnormal activity in the basal ganglia of the brain. We went through a whole workup over the course of a few weeks with spinal tap and serologic testing, MRI, genetic testing, and 48 hours of EEG from Boston Childrens Hospital where they ultimately came up with the diagnosis of PKD. PKD is rarely seen in a child River's age, although usually the onset is in adolescence. Some events are known to trigger episodes, such as sudden movements, stress, change in position, change in velocity, although some episodes can happen when River is calm and in a sedentary position. Some modalities we are looking into include those where River would have to be a bit older in order to fully take advantage of it, such as Yoga, meditation, any mind-body practice, massage, and acupuncture, as well as other alternative treatments. We hope someday that stem cell research has come to the point where we can help her condition. We do not have a lot to compare her case to. We would be interested to know if you yourself or the parents of children who may have developed this so young and what the natural progression looked like for you. If you have any information, questions, or advice, please do not hesitate to comment or contact me through email. melissainthemountains@gmail.com

• published: 19 Feb 2014
• views: 254