Our Trip to Mayo Clinic!

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...

G-Tube Update

Thanks to everyone for your prayers, emails, texts, phone calls, etc. We are so blessed to have so many people rooting for our family! Mason's G-tube was placed 10 days ago and he is doing very well. His tummy was quite tender for the first week because the procedure was done through his belly button. However, over the last few days he has been acting more and more like himself and is no longer taking pain medication.

Getting used to all of this will take awhile... there are so many parts and medical supplies are scattered throughout our house right now. The doctor has recommended that we feed Mason through his G-tube at night - over a twelve hour period. So far, we have had a lot of leaks and tons of laundry to do. However, last night was the first night that there were no leaks!!! So Mason woke up with dry clothes, dry sheets and a very full belly.

One of our current challenges is cords at night - Mason wears a night brace that is pretty constricting but will hopefully help correct the curve in his spine. However, he must also wear a pulse ox sensor on his toe while he sleeps - so that we can monitor his breathing in the brace. The feeding tube that runs to Mason's g-tube is six feet long. These two contraptions together make it difficult to relax while he sleeps. He still manages to twist and flip around so much that we need to check on him frequently during the night and untangle him as needed. I wish I could find a solution to this problem but so far I have not found anything. If you are reading this and you have a suggestion - feel free to let me know!

Next week, we will be at Mayo Clinic in Rochester, MN. This will be our first visit to Mayo and we are very excited. The Pediatric Neurologists at Mayo Clinic are among world leaders in research studying genes involved in congenital myasthenic syndromes and developing cutting-edge therapies to treat congenital myasthenic syndromes.

The picture above was taken about two weeks ago before the g-tube surgery. Henry is in charge of turning on the Pulse Ox machine at night for Mason... these brothers were really made for each other :-)

Nesting Mode...

Two weeks from today, Mason will be having a gastrostomy tube (G-tube) placed in his stomach. Mason's therapists and neurologist have been hinting at this for awhile but we finally made the decision last month after meeting with a nutritionist and pediatric gastrologist. Although, Mason can swallow - his swallow is weak. A year ago, he could drink a six ounce bottle in one feeding. But now on most days, he can only do about 2-3 ounces before tiring out and needing a break. The low muscle tone throughout his body is most significant in his head, neck and trunk. Therefore the process of eating and drinking is pretty exhausting and since it takes so much energy for him to eat or drink - he burns a lot more calories doing these activities than most kids his age. For all of these reasons, he has gained only a few ounces over the last six months and most days he is not consuming enough liquids to maintain proper hydration.

So right now, we are in nesting mode... making preparations for the surgery, making plans for Henry and getting things around the house organized so that we can minimize the chaos and clutter when we come home from the hospital. The procedure itself is only 30 minutes but Mason will need to stay at least one night (possibly two) so that the first supplemental feeds can be done after the G-tube has been placed. Once the feedings are going smoothly we will be able to go home. And then the fun part starts :) Feeding tubes are actually not that complicated from what we've been told and all of Mason's care team has told us that we should see a big change in his energy level once he is getting the proper nutrition he needs. We are excited to see the weight gain and the new energy that this feeding tube will bring Mason over the next few months!

For more information on G-tubes - click on the link located on the right side of my blog page.

Good Days vs. Bad Days...

Since many of you don't see Mason very often in person, I thought it might be helpful to post a few video clips comparing good days and bad days. If you are reading this blog because your child has CMS, you know what I am taking about...

Here is an example of good hour (I say this because there are days when I think Mason is having a "good day" and then things suddenly change) - Mason and Henry dancing after dinner in the living room. Mason is OBSESSED with music and musical videos. So if you are looking to cut a rug, stop by our house on a good day and you'll have two dance partners :)

And then there are the bad days... days when all Mason wants to do is sit on the couch and watch TV because he is too weak to get around. This video clip shows Mason trying to get up from the floor... on a good day he manages to do this all on his own. But on bad days, he cannot get up without assistance. In this video clip, you can see that Mason is trying hard to get up... but he simply cannot do it...