We are here at the University of Minnesota Children's Hospital for an evaluation of a potential Bone Marrow Transplant for Evan. Normally, they would not even consider a transplant because it has never been helpful for this condition but we are in a very unique situation. Evan has been diagnosed so early in the development of the disease and has not shown a lot of symptoms yet. It may be useful if the transplant is performed on someone so early in the process, before much neurological damage has occurred. We have had a week full of doctor visits which have been very helpful and truthful to the situation we face. Should we forego the transplant and allow the disease to cause Evan to regress at a similar rate as we have seen in Eli? Or do we try something drastic with inherent risks, for the possibility of an improved future for him? It is not an easy decision.
The other thing which makes it a difficult is that if the procedure is performed it would have to be done here in Minnesota. Essentially, Evan would go through Chemotherapy to kill off all his existing white blood cells (i.e. his immune system), he would then receive new cells from a compatible donor (hopefully his sister) which would then begin to replicate and grow inside him to create a new immune system giving him a higher level of the enzyme that the GM1 disorder does not have. At this point, the hope that this new enzyme makes it through the blood brain barrier and helps halt or slow the neurological decline of the disorder. During this whole process, Evan would remain in the hospital for at least 1 month and possibly up to 2 months. After that he would have to remain within a 1/2 hour of the hospital for another 2 to 3 months. Essentially, our family would have to relocate to Minneapolis for 5 or 6 months during the process.
This bone marrow transplant procedure has been successful and done many times with another lysosomal disorder called Hurler's Syndrome. However, by the time GM1 is diagnosed it is often too late to hope for any improvement with a transplant. We are in a very unique situation because the only reason we know Evan has the disorder is through the diagnosis of Eli. The research team is excited (not that we have such a burden) but because they feel a whole lot can be learned by examining our boys. They have two subjects, one who has shown a lot of decline due to the disorder and another sibling where the disease hasn't begun to cause much decline. There is a possibility of identifying bio-markers for the disease to help scientists learn and understand more about this extremely rare condition. We are happy to allow them to learn as much as they can through our boys to help advance the research that may help others in the future.
A few of our appointments turned into medical lectures, helping us to learn and understand what is going on in our boys and why they are the way they are. We feel so blessed to have found these few people in the world that are working to find answers on these rare disorders. The study they call "Syner-G" is experimenting with a specific diet called the kitogenic diet along with medication call Zavesca (another name being miglustat). They have seen some encouraging signs from a few Gm1 patients and think it is slowing the progression of the disease. The bad part about Zavesca is that it is about $26,000 per month when the patient reaches the required 300 mg per day. The reason why it is so expensive is because it costs billions of dollars to produce the drug and is required by a small population of people. Their is no generic version produced yet, but that may happen in time. If our insurance covers it, we will most likely be required to pay 10% of the amount, being at least $2,000 to $3000 per month, per child. Eli does have a secondary insurance through DDD, so we are not sure yet how much they will cover.
Once we get home, we will quickly get Laya to a lab and test her to see if she is a carrier of the disease. We already know that she is a perfect match for Evan. If she is not a carrier, she would be the ideal donor option if we decide to move forward. If Laya was the donor, it would minimize the risk of graft versus host disease since her blood will be the most similar to Evans. They have also taken more of Evan's blood to look for a further match through chord blood. I believe there is about a 25% chance of a complete match with the chord blood. The good part about that is the immune build up isn't quite as strong in the chord blood as it is in older individuals, so the risk of graft versus host disease is less. Graft versus Host disease is when the newly transplanted donor cells attack the transplant recipient's body.
Once we understand all of the insurance and donor status, we will be able to move forward with our decision making process.
The medical center is on the banks of the Mississippi river which makes for some beautiful views. One day we had a few hours and walked down to the banks of the river to enjoy the scenery and try to forget the gravity of the decisions that stand before us. It is easy to ask "Why Us?" But we continue to have faith that we have these trials and experience for specific purposes. We hope to understand those purposes while here on earth but if not we know we will learn what they are after this life. One thing I know is these two sweet boys bring the absolute best out of everybody they come in contact with and I think the world is in desperate need of more of that.
On one of our flights over here Marilee began to speak with the lady next to her and found out she was a psychologist. They began talking and had a wonderful conversation, she volunteered to send Marilee some information and recommendations to help Laya in all of this. Once the plane landed this wonderful lady helped us get our bags and boys off the plane then escorted us across an unfamiliar airport to help us find our rental car. Without our boys, we never would have met her and had the experience we did and she wouldn't have had the opportunity to serve complete strangers as she did. Most of us are placed here to serve others when able while others are placed here to simply be served.