When we were going through all the diagnosis stuff with Edda, I did a lot of reading on different genetic disorders, some apparent at birth, some apparent when the kid is about 2 (like Rett) and others which don’t show up until later in life. Many are devastating and heartbreaking illnesses. I learned of a new genetic illness today, Batten’s Disease – which can strike kids when they are 5-8 years old when there is a regression in skills and is usually fatal by the time the child reaches their 20s. Anyhow, there is some good news regarding this disease (which like Rett involves the brain) and stem cell transplants. This is from a mom on the RETTNET forum, encouraging news!
A year ago, I wrote about Daniel, the son of a friend of ours who has Batten’s Disease which is terminal, and a particularly heart wrenching disease often starting out with normal development and then progressing to the point where a child becomes deaf, blind, losing all motor skills – unable to move and becoming bedbound before death. . He was on 60 Minutes and was the first child approved to have a neuronal stem cell transplant. It was first thought that he had Rett Syndrome. I complain a fair amount about Rett Syndrome and the impact it has on our daughter and our lives and feel sorry for myself, but life seems like a walk in the park compared to what they have been going through.
Anyway, as many of you know from the hundreds of articles in the newspaper and reports in the news media, Daniel had the stem cell transplant done in Oregon in October and returned home in December. His family had suffered through a excruciatingly difficult and painful year before the procedure. It is such a terrible disease with a devastating impact.
There is so much I could say, but the bottom line is that procedure went great! His parents are thrilled because at this point, not only has his regression stopped, but he has been making progress! He is speaking some words again, has more control over his neck and head, is regaining hand use and reaching out and grabbing things. He is much more responsive and interactive and his neurologist has removed the word “terminal” from his diagnosis. I just can’t put in words how exciting this is!