tag:blogger.com,1999:blog-3911918894908593884.post3233114008571404682..comments2023-09-14T01:35:31.437-07:00Comments on Overcoming Movement Disorder: Is your child undiagnosed?Cristinahttp://www.blogger.com/profile/05624255220638749596noreply@blogger.comBlogger5125tag:blogger.com,1999:blog-3911918894908593884.post-33533015510260430342012-06-01T07:25:25.292-07:002012-06-01T07:25:25.292-07:00A friend shared your recent blog post with me, and...A friend shared your recent blog post with me, and I am so glad we found you! My daughter Jaden is undiagnosed and we are waiting for the full genome sequencing at Duke (Dr. Jiang). Jaden is almost nine and has been tested for thousands of things, seen dozens of doctors, and had her blood work studied all over the country. No answers. The best answer they can give us is that "she has a genetic disorder so rare that it has not yet been discovered." Keppra successfully controls her seizures, but she does not talk, sit up on her own, and has no tears. We blog at http://www.role-reversal.com about our adventures and desire to give her the best quality of life possible. Thank you for your quest to help your son and other children like my Jaden.<br /><br />Sincerely,<br />Melissa RichardsMelissanoreply@blogger.comtag:blogger.com,1999:blog-3911918894908593884.post-57842300755817556682012-05-22T13:10:54.968-07:002012-05-22T13:10:54.968-07:00Ramee - I will be in touch soon!
Mary-Louise - B...Ramee - I will be in touch soon!<br /><br />Mary-Louise - Bertrand's movements have evolved over time. Tremors and hand-wringing, to writhing and chorea, to now choreo-athetoid stereotypies (the movement worsens with excitement/interest). There is still almost like a small current running through his body--he is almost never really still.<br /><br />Blessed x3 - Yes, having an answer/diagnosis gives one a foe to attack head-on! And something to fill-in the blank on all the stupid medical forms. ;)Cristinahttps://www.blogger.com/profile/05624255220638749596noreply@blogger.comtag:blogger.com,1999:blog-3911918894908593884.post-35892079096148315122012-05-22T08:27:42.081-07:002012-05-22T08:27:42.081-07:00Our daughter went a long time without a diagnosis....Our daughter went a long time without a diagnosis. We finally have one now. Ashleigh has Spastic Paraparesis, which is a neurological disease affecting her muscles. She will end up in a wheelchair later in life. We are not sure when. <br /><br />We know how it feels not to have a diagnosis for a long time. I want others to know to not to lose hope. It may take awhile, but it will happen.Always Readinghttps://www.blogger.com/profile/09575864273311735978noreply@blogger.comtag:blogger.com,1999:blog-3911918894908593884.post-5904999931622453352012-05-22T08:09:20.216-07:002012-05-22T08:09:20.216-07:00Can you please tell me a bit more about how this d...Can you please tell me a bit more about how this disorder presents and affects Bertrand? Does he have any form of choreo athetoid movement or constant movement? Thank you so much. I'm so pleased that you have found answers. Regards, Mary-LouiseMary-Louisenoreply@blogger.comtag:blogger.com,1999:blog-3911918894908593884.post-55931927706674795702012-05-22T07:55:38.932-07:002012-05-22T07:55:38.932-07:00Hi there!
Our daughter, Mabel, is 2 years old and ...Hi there!<br />Our daughter, Mabel, is 2 years old and undiagnosed. I'm so glad you posted this! She currently has all of the symptoms except for her liver appears fine as of now. She has severe myochlonic movements and seizures almost constantly. She doesn't sit up on her own, cannot eat well on her own(g-tube fed), doesn't roll over and has severe vision impairments. There are a handful of other symptoms as well. Currently we are running through a list of tests before we start the whole genome sequencing. I am going to read more into your site and if you'd like to get in touch please visit ours as well...<br />www.rameelinlarson.com<br /><br />Rameerameelinhttps://www.blogger.com/profile/06330538611955363497noreply@blogger.com