We returned from our trip to Johns Hopkins this week. We are grateful and blessed to have such an amazing team of Neurologists, Neuroscientists, Neurogeneticists, and Genetic Counselors in the country working so hard to help find answers for us. It has been a rough year not only for Emma, but our son Alec as well. Alec has been exhibiting similar symptoms this year that Emma did at first. Mainly headaches and severe anxiety and depression. Emma's doctor ordered a MRI and CT for Alec to see if it was similar to Emma's. Alec's imaging revealed some abnormalties which we thought was only some changes in white matter in his brain. JH had is scan reviewed again by a Neuroradiologist and he does have calcifications in the basal ganglia. They are light and do not show up on imaging as dense as Emma's...but there. Unfortunately it appears Alec has the same unknown genetic neuro-degenerative brain disease. Because of Alec's extreme anxiety and depression the doctors are recommending we hold off on telling Alec about the calcifications. He is aware of his abnormal MRI and they feel that is enough for him to process at this point. Emma's team of JH doctors are seeing Alec as a patient as well.
Emma has finished 8 months of PT, OT, and Speech Therapy (for memory loss). Insurance will only cover so much, so we are on hold until it renews again after the first of the year. While at JH her doctor also diagnosed her with POTS (Postural Orthostatic Tachycardia Syndrome). Thankfully because of our trip to Mayo Clinic's Pediatric Pain Center last Fall and the precious kids we met there, we are well aware of POTS and the treatments to manage it. We also still have these kids and their incredible families support through this. They have been our extended family and we are forever grateful that Emma was in Mayo's program during the time she was.
Now since Alec has this as well we have a better chance to get diagnosed. Although this is a new disease that they have never seen before, we are in the best hands of Research Scientists and Genetic Labs in the world to find the genetic mutation and hopefully develop a treatment to halt the progression of this disease. JH is redoing the Whole Exome Sequencing but this time is adding Alec's DNA. Results will take about 3 months, and we have about a 50% chance of it showing the genetic mutation.
We are thrilled that a Research Genetic Scientist in Spain is willing to take our case in their research study doing Whole Genome Sequencing. We are unable to get this test done in the US. It may take us over 2 years for results, but we are blessed beyond words that we were given this opportunity to have our family part of this groundbreaking research. We can only hope and pray that maybe through Emma's extremely long and difficult journey that answers will come soon. Once this new disease is diagnosed and hopefully a treatment will follow, then other parents and kids will not have to suffer so long for answers.
We wish you all health and happiness into 2018. Sorry we are going to have to put on hold Emma's monthly subscription care boxes a little longer. With everything going on we don't have the time or energy to do it right now. Thank you to all who have supported, once we are able to set it back up we will.
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.