Friday, January 23, 2009


I don't think I have ever seen a doctor be as excited as Jacob's primary care physician this week. The news of Jacob possibly not having a mitochondrial disorder, but a neurotransmitter disorder had reached Dr. Elias. She feels very strongly that this could be Jacob's true diagnosis. In addition, she also thinks that this diagnosis has a more positive outlook for Jacob's future. She talked about the possibility of replacing neurotransmitters. I haven't had a single moment to research it further on Internet this week, but I do have a big trust in Dr. Elias - and will be spending time on Internet this week-end.

Dr. Elias run different blood tests that will help us in determining a possible neurotransmitter disorder. We used Jacob's medical port for the first time. What a neat invention! No crying, no fussing - simply just getting blood. Jacob was as happy as can be!

I have talked to Children's scheduling a couple of times this week to get the MRI and spinal tap scheduled together, so we can have one round of anaesthesia. Right now, it will happen next Thursday, February 9th or February 17th. We should know on Monday.

This week Jacob also became a member of the Butterfly program at Children's. The Butterfly Program is a non-profit organization through Children's hospital for children at the end of their lives or with a life threatening disease. Jacob got picked up by their system due to all the recent hospitalizations and his diagnosis. We met with them this week, and there are many neat services for Jacob and us, now and also later in Jacob's life. They offer nursing care, respite care, all kinds of emotional support to family members, therapies, sibling support, special status at Children's hospital etc. - all for free.We can get trained respite care, which will allow us to spend quality time with Sarah. We'll get a skilled nurse to come to our house whenever we have concerns about Jacob's health, but might not need hospital care. We get a nurse to come to our house to flush Jacob's medical port each month rather than us going in to the hospital each month. We can have Sarah participate in sibling activities, and if Joakim or me want to talk to someone about anything about Jacob or our situation we have 24/7 support. The frosting of the cake is that we automatically can enter the Make a Wish program. Jacob made his wish on Wednesday. I won't reveal it, but if this comes true, it would be such a great thing for all of us!

Jacob is recovering very nicely after the last hospital stay, and will go back to school on Tuesday! We're all excited to go back and see Mrs. K and Mrs. Julie, his friends and therapists!

Take care, Maria.

No comments:

Post a Comment