Sorry for the delay in posting on our recent trip to Johns Hopkins. Emma spent her 14th birthday driving back to Baltimore. Even though her memory has severely deteriorated I'm sure it's one birthday she will not soon forget.
In Baltimore we saw a Mitochondrial Neurologist, Neuro Research Scientists, Neurogeneticists, and a Neuro Opthamologist. I'm blessed beyond words that these brilliant doctors have teamed up to find us exact answers and a possible treatment to slow Emma's progression. They are definitely not giving up on her. She has the best doctors in the world working with us....I'm grateful for them taking such an interest in helping my baby girl. Because they are almost positive we are dealing with a genetic disorder they've asked that our son gets a MRI as well. I have an appointment with Emma's Neurogeneticist in Michigan in July for him, his MRI is TBA.
Emma had a ton of blood work taken while we were there. Our JH Genetic Counselor is in the process of fighting with our insurance for some of the labs that went to Baylor. Some other labs that went to Mayo for testing unfortunately clotted before it got there so we will have it redrawn when we go back to Baltimore next month. Because of Emma's continued decline in mobility and functioning we are traveling back to Johns Hopkins the end of July for another MRI of her brain and they also want to scan her spinal cord. She will also have another MR Spectroscopy of her brain.
They ordered continued PT, OT, and Speech Therapy to help with memory at home. We are currently in our 3rd month of PT. They also ordered an EMG/Nerve Conduction Study which we did last week. The picture above is the portion of the test when the Neurologist put the electrodes on her arms, hands, legs, and feet and sent the electrical shock pulse to her nerves. I was holding her hand during the part when he shoved a long needle into her muscles while she cried....Absolutely horrific experience.
Once they have the new imaging completed next month, they are going to look into sending us to Baylor for a research study on people with basal ganglia calcifications. Obviously it's a very hectic time right now so unfortunately our care boxes are going to have to be on hold until further notice. I was hopeful that come fall things would settle down. Right now with Emma deteriorating and our multiple appointments in and out of state, I'm not sure if this fall is realistic for things settling down.
Thanks again to all those who have donated on this site, the gofundme page, and fundraiser. We would not be able to have gotten her the help, especially out of state, without your support. Please know you're a huge piece of our journey, and we are forever grateful.
Welcome to my daughter Emma's medical journey blog. Read updates on Emma and helpful tips for researching and coping with a child with an unspecified, rare genetic disease living in chronic pain. Click on the ABOUT tab to see how her journey started.