It's been a busy two weeks for us and so much has happened! I feel older, wiser, more tired and very sassy... a dangerous combination for motherhood. Perhaps this might be a problem for my husband too... oh well.
Our trip to Mayo was excellent and we learned a lot. Mayo Clinic is an amazing place. The staff are so patient focused - its really like nothing I have ever experienced before. We were so blown away by the doctors and nurses, the facilities, the art and all of the people that travel from all over the world looking for medical answers.
1. Mason was evaluated by three different neurologists. They ordered a smattering of tests and concluded that his diagnosis is correct but the medication is wrong. The majority of patients diagnosed with CMS respond well to Mestinon. However, this drug is actually making Mason weaker!!! So the doctors told us to stop giving him Mestinon immediately. Its been almost two weeks since his last dose and we have seen some positive changes. Mason is hardly drooling at all and when he tries to climb stairs he is no longer dragging his head. He is still weak but the quality of what he can do when he feels good is much better since we stopped the Mestinon. Its been a treat for me as well - since I don't have to constantly watch the clock - waiting to give him the next dose.
2. Based on the test results, the neurologists at Mayo have a pretty good idea of what gene mutation is likely responsible for Mason's condition. They gathered samples from Aaron, myself and Mason and they are currently working to confirm their hypothesis. They have warned us that this could take months. They have also warned us that they could be wrong... and if that is the case they will have to look at other possible genetic mutations. If and when they can determine what gene is responsible - at that point we can determine what other drug therapies might be possible to help Mason with strength, energy, speech and feeding.
3. Mason was also evaluated by the Orthopedic Team at Mayo Clinic and those results were not as positive. We learned that Mason's curve is much more severe than we originally told. In Chicago, all of his x-rays were taken in while he was laying down. The doctor at Mayo informed us that Mason needed to have an x-ray while standing up in order to clearly see his curve. Therefore, his curve is actually 60 degrees! Not good news since he is only two years old. The doctor also explained that right now Mason's ribs are growing into his spine and that if we do not aggressively treat the curve right now - his lungs will be affected next and his pulmonary function will be affected if the curve progresses beyond 70 degrees.
So what do we do now? They have recommended that Mason be casted as soon as possible. Its taken us two weeks to get used to the idea but of course we are moving forward with the casting process. We will be traveling to Mayo Clinic every other month from now on for casting. I'll write more about this as we go. Based on all of the research and information we have received so far - this spinal casting thing is going to be a real doozie. Mason will be set in a cast that will go from his hips up over his shoulders. Each cast will last 60 days... and he cannot get it wet... which means no baths. Yuck!!!
Maybe we will all give up bathing for awhile...
Our trip to Mayo was excellent and we learned a lot. Mayo Clinic is an amazing place. The staff are so patient focused - its really like nothing I have ever experienced before. We were so blown away by the doctors and nurses, the facilities, the art and all of the people that travel from all over the world looking for medical answers.
1. Mason was evaluated by three different neurologists. They ordered a smattering of tests and concluded that his diagnosis is correct but the medication is wrong. The majority of patients diagnosed with CMS respond well to Mestinon. However, this drug is actually making Mason weaker!!! So the doctors told us to stop giving him Mestinon immediately. Its been almost two weeks since his last dose and we have seen some positive changes. Mason is hardly drooling at all and when he tries to climb stairs he is no longer dragging his head. He is still weak but the quality of what he can do when he feels good is much better since we stopped the Mestinon. Its been a treat for me as well - since I don't have to constantly watch the clock - waiting to give him the next dose.
2. Based on the test results, the neurologists at Mayo have a pretty good idea of what gene mutation is likely responsible for Mason's condition. They gathered samples from Aaron, myself and Mason and they are currently working to confirm their hypothesis. They have warned us that this could take months. They have also warned us that they could be wrong... and if that is the case they will have to look at other possible genetic mutations. If and when they can determine what gene is responsible - at that point we can determine what other drug therapies might be possible to help Mason with strength, energy, speech and feeding.
3. Mason was also evaluated by the Orthopedic Team at Mayo Clinic and those results were not as positive. We learned that Mason's curve is much more severe than we originally told. In Chicago, all of his x-rays were taken in while he was laying down. The doctor at Mayo informed us that Mason needed to have an x-ray while standing up in order to clearly see his curve. Therefore, his curve is actually 60 degrees! Not good news since he is only two years old. The doctor also explained that right now Mason's ribs are growing into his spine and that if we do not aggressively treat the curve right now - his lungs will be affected next and his pulmonary function will be affected if the curve progresses beyond 70 degrees.
So what do we do now? They have recommended that Mason be casted as soon as possible. Its taken us two weeks to get used to the idea but of course we are moving forward with the casting process. We will be traveling to Mayo Clinic every other month from now on for casting. I'll write more about this as we go. Based on all of the research and information we have received so far - this spinal casting thing is going to be a real doozie. Mason will be set in a cast that will go from his hips up over his shoulders. Each cast will last 60 days... and he cannot get it wet... which means no baths. Yuck!!!
Maybe we will all give up bathing for awhile...
