Christopher has a new team of Doctor's.
Dr. Irina Anselm an expert in Child Neurology and Mitochondrial Diseases and Dr.G. Berry an expert in inborn errors of Metabolism and Endocrinology. He is now the director of the Metabolism Program at Children's. They work as a team in a new clinic they just started.
Dr. Berry believes gene replacement therapy would be the best treatment for Christopher down the road. They have many laboratories working on how to transport the gene into the correct area of the brain. They also have to find the exact area to target which is the mystery. He believes it my take five years or more. In the meantime they have approved new clinical drug trials which could be promising to help control the SIB (Self Injurious Behavior). He will keep us posted if anything comes up. We are on a list for clinical trials if it is non invasive.
Dr. Anselm is a believer in DBS (deep brain stimulation). It has helped some LND patients with Dystonia and SIB. She has had some great results with some of her patients. However none of them had LND. She thinks Christopher is too young for this treatment at the time. His head needs to get larger. She is also going to do some research on some new drugs for Christopher.
They are great doctor's and spent over two hours with us. We are going to meet with them every six months.
They are great doctor's and spent over two hours with us. We are going to meet with them every six months.
Christopher is going to have a Spiral MRI on his kidneys to see if they have been damaged by the uric acid. He is also going to have a MRS. Which I believe shows the fluids in the brain. I have to look that one up.
So we left feeling great about the doctor's but not so great with the options now available. They both said since Christopher is comfortable at the time we will continue on the same drugs. If his behavior changes or his Dystonia get's worse we will make a decision on what to do next. DBS (which scares us) and or new drugs.
I am very optimistic and hopeful for a break through. Please pray for our Christopher and a cure. I will keep you all posted.
Love The Dennesen's
Thanks for the update, Lis. Glad to hear we have great doctors on the team with all the knowledge of present and (potential) future options.
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