Wow! I can't believe it's taken me this long to update this website. It has been a whirlwind of a year or so since I last was on. They say you have to put up with the rain to get the rainbow, but it feels like we've been drowning in the rain with no rainbow in sight, not less that pot of gold at the end.
Over the past year we found out that Alec and Emma have not only the calcifications in their basal ganglia of the brain, they also have iron accumulation. Alec's is actually more severe than Emma, and our Neurology team at Johns Hopkins Hospital believe he is further progressed than Emma. Because of the area of his brain that's affected, this has brought on some severe symptoms for him. We've had many hospital stays, and trips to Mayo Clinic and Johns Hopkins for treatment for him. Currently we are working closely with a Specialist at University of Michigan who the doctors at Johns Hopkins referred us to so we'd have someone closer to home.
Our dna is still in Spain for a research study. It will be 2 years soon of waiting. We are also having the genetics lab redo our whole exome sequencing. Thankfully through our team of doctors the lab is redoing it one time for free for us. Until the government and insurance companies get on board with genetic testing it would be about $40,000 per person. Know wonder why people go undiagnosed.
We are still hanging in there. Thank you to those who have stayed by our sides. This journey would be impossible without your love and support. We are hoping and praying that this genetic testing will bring answers soon. Then the team of scientists at Johns Hopkins can develop a treatment to help us.
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.