Our MGH Visit

This past Wednesday, Owen got to participate in one of his favorite activities, going to the doctor's office. Pete and I brought him to Mass General Hospital to meet with Dr. Eichler, a leukodystrophy specialist. I would say that we were very happy with the appointment, but given the circumstances, happy just doesn't seem like the right word.

We spent a little over two hours with the doctor and his nurse practitioner. They reviewed everything about Owen from birth through present day. Dr. Eichler was helpful in providing a bit of reassurance in how we are caring for Owen. He confirmed that he doesn't expect Owen to gain milestones and he also does not feel there is any treatment available to help reverse the damage this disease has caused Owen's brain and body. Nothing good to hear, but at least it helps us to know we are doing the best we can for our little boy by keeping him comfortable.

In typical Owen fashion, we got some news we were not expecting; Dr. Eichler isn't convinced Owen has a classical form of leukodystrophy. His money is on some form of a mitochondrial disease. This theory has been kicked around by his current team of doctors in the past, as well as some other diseases. Owen just doesn't fit into any one category well. He has abnormalities that point in many different directions, but these abnormalities are also contradictory in the way they present.

Tomorrow, we are meeting with Dr. T, the neurologist and Karen, the palliative care doctor. We have already spoken with Dr. K, the genetic/metabolic doctor, and discussed some additional testing we can do. At this point, anything which can be tested off of his DNA from his skin biopsy gets the green light, everything else requires deeper discussions.

In the big picture, nothing has changed. Whether it is a leukodystrophy or a mitochondrial disease, there is no treatment. Owen has been a pretty happy boy lately, we have really been getting to know his personality- which is a very sweet, cuddly little guy. We will continue to look for answers for Owen, but we are grateful for every day we have with him.

Today, Owen plans to suit up in his Patriots jammies and enjoy the game in his Daddy's arms. It will be a great day for making some wonderful memories. Go Pats!