Ok, we have nothing but great things to say about the Mayo in EVERY WAY. They are amazing.
Now, our appt. with Dr. Duygu Selcer (from Turkey), Pediatric Neurologist, was right on time. Amazing. This lady was fantastic and asked so many questions that we were ready for her to finish. After about 30minutes of asking many questions, testing Luke's reflexes and watching him interact with mom/dad....she called in Dr. Andrew G. Engel.
Now, Dr. Engel was in his 70's and was just super. Aside from being super knowledgeable..everything he said just permeated the room. He was 'experienced' with CMS. We asked tons of questions and he was so patient with us and laughed with us and was so delightful.
Ok...I'm going to desperately try to bottomline this. Here's what he said. It takes 1 gene from me and 1 from Jonathan to make CMS happen. They had to take a blood test from me and Jonathan at that very moment to be sent off to the labs and believe it or not.....they will know tomorrow what gene it is! (she said it used to not be like that..but technology has flown in!)
Jonathan got weezy and I told him to suck it up! (LOL) And of course, I flew right through it. (big smile)
Ok, so LUKE. Dr. Engel explained that synaptic or post synaptic CAN BE TREATED. He said that it's 'trial and error', but that most forms can be treated.
Now, there are 2 medications that they want to try on Luke to see if he responds. Sorry y'all this is just so confusing. They said there are 2 ways to determine the DNA from Luke and what will work and that is the following:
1. See if he responds to the medicine #1 first...if so, then they know what type of CMS it is.
2. If he doesn't respond to medicine #1, then they proceed to another EMG with sedation along with medication #1 and/or #2. (they determine that after clinically observing him after medicine #1)
Medicine #1: Mestinon ("K"...this is your drug)
Medicine #2 and please note...this is not FDA approved yet..but they are currently treating CMS patients with it and with great success. 3.4 draminopyridine is Medicine #2.
Ok, so, the plan:
1. We got the prescription tonight for Mestinon. It's in our room and in liquid form.
2. At 9am tomorrow morning, we give him Medication #1 (Mestinon) 1ml through his gtube and watch him. Yes, that's right. Me/Jonathan sit here and watch our child. Dr. Selcen said it takes literally 1 hour or less and we will either notice a huge difference in his physical activity...or, we won't.
3. At 1:30pm, we give him another 1ml of Medication #1 (Mestinon) and then we proceed to Dr. Selcen's office at 2:30pm and she wants to clinically observe Luke herself.
Now, at this point...if Medication #1 Mestinon works, then we scrap the EMG that is set for Wednesday as they will determine exactly what strand Luke has with this result as well as our blood work and Luke's blood work.
4. If the Mestinon does not work (and we are praying IT DOES BLOG FAMILY) then we are set for an EMG with sedation AGAIN on WED. am. At this point, they will have to do further testing to determine exactly how to treat this.
They (both the neuro's) mentioned that they just saw a 15 year old patient (female) and that is totally active and productive with taking BOTH MEDS (med#1 AND med #2) at the same time.
NOW --- THE PROGNOSIS: We asked the question. Can Luke live out a productive life and will I see grandchildren: Dr. Engel (the elderly doc) said "I feel very good about saying he can...but let's see how the next 2 days go with his meds) GLORY TO GOD.
THE OTHER QUESTION: Can we have more children? Dr. Selcen said there is a 25% change of our next child having it.
And, it's super SLIM that Luke's children will ever get it. (almost 0% chance)
Also: personal note to "K"---yes, they have heard of Ester neurosciences.
wow.
Ok, is this clear at mud? Or are you more confused? I hope I explained this and we are asking for great results tomorrow.
And yes, we will be video taping Luke if we start to see radical results. We are excited.
Ok loved ones....signing off with pics. Love you and may I just say thank you so much for riding along this awesome journey with us? We love you! So much.
Our lobby within a huge lobby before going in....
Another view of Lobby
Me and baby waiting for the prescription of Mestinon
Dad/baby
The big Mayo lobby that carries the little lobby's! LOL! It was beautiful.
Atrium window looking up!
Attempt to get a cool pic.
Outside of big lobby...garden area
Dad/Luke
Big lobby view
Ok! See you tomorrow....and I know your praying...love you again.
A
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