Mayo Clinic Results

We got the results of our genetic testing from the Mayo Clinic. They found some mutations on DOK-7 which indicates that I do infact have congenital myasthenic syndrome and the albuterol pills are the correct treatment. I have been feeling so much better and have been doing lots of fun things. Haley and I are going to enjoy our summer together and be ready to go back to work in August!

Update on Progress

Well we made it home and were so glad to see Miss Haley! She was taken very good care of while we were gone and enjoyed her time with Gramma and Grandfather.

I am feeling so good. Stronger and stronger everyday. I am keeping track of things I have done each day to send to my doctor and I honestly feel like I could go to the gym today I have so much energy and strength.

Thanks again for all your prayers, money for the trip, food, texts, concern and calls that everyone has given us during this time. It has been rough, but things are definitely looking up for the Price family. Now we can enjoy our summer and be ready for August when I can go back to work!! YAY!!

Mayo-Wednesday

Mall of America has an indoor amusement park...

National Cemetary in Minneapolis Minnesota...

Well today was my final meeting with Dr. Engel at 11:00. Each visit he has been right on time and very organized. He did my muscle strength tests again and said that he thought I was already stronger today than I was yesterday. He took my blood pressure and it was normal and checked my pulse. A rise in both of these are side effects of my medicine, but so far so good.

I wanted to give him a big hug when I left his office, but just shook his hand. I know it sounds goofy, but I felt like I met a rock star, only better cause he is so smart and such a good person. I kept asking questions I think cause I didn't want to walk out that door. I asked him if he was going to retire and he said yes, then I asked if he was training someone to take over for him and he said he has someone that he is training that he hopes will take over his research. I sure hope he does.

We drove back to Minneapolis after our visit and went to the Mall of America. It is the biggest mall in the world. Prety neat. We fly out tomorrow at 7:20am and I can't wait to see Haley.

Thanks everyone for all your prayers and concern the past few months. I know my struggles are not over, but that I now have the accurate information and medications that will help. Now I can enjoy my summer by the pool and maybe, just maybe at the gym!!!

Tuesday at the Mayo

We got bored waiting...

Here is a note Dr. Engel has on his desk. Actually he had 2 notes like this. It says "Leave this desk as neatly as you found it" A.G. Engel...He is very organized... So funny..

Dr. Engel is a cutie....

Today started with an EMG that lasted two hours. It is a test where they shock different muscles in your body to see if the muscle gets weaker as it is exercised and shocked. Then they stick a needle into several muscles and listen to the muscle waves. I really don't understand it all, but it is the 3rd one I have had done and Dr. Engel said it does show decline in muscle function as expected with CMS.

Then we met Dr. Engel again this afternoon. He gave me a prescription for Albuterol pills which is a treatment for CMS. He has now given me the diagnosis of CMS instead of MG. He will not know what type of CMS it is until he is done with the genetic testing (there are several types). He said he will check on me in 3-4 weeks to see if the medicine helps.

Dr. Engel gave me three of his research publications that I had asked for. I really wanted to read his research. He said that he has seen 450 CMS patients since the 1970s. This is such a rare disease. I guess now he can say he has seen 451 patients with my new diagnosis. He is the world expert in CMS and he said he just saw his first MG patient and then liked it so he decided to continue research.

I see him tomorrow again at 11 o'clock to see how the medicine has worked and then I will be free to go. It is crazy that it has taken 22 years to get a clear diagnosis of what has been going on in my life. Dr. Engel is a funny, nice, smart man and I'm so glad he decided to do this research and investigate.

Mayo-Monday

Day #2 in Minnesota:

Today was very busy, but I met all of my appointments and met Dr. Engel. He is a very nice older man and was easy to talk to. He didn't have all the answers and said that the genetic testing that Mom, Dad, Sara, and I sent in would not be tested for 3 months to a year. Wow-not what I expected or wanted to hear. We got a letter in the mail that said that they had determined our families neuromuscular disease, but apparently not cause he said he needed our blood and I told him it was already done. The people here at the Mayo are very friendly and nice. They all comment on how we came at the right time of the year because the weather is nice.

So I had to explain my life story once again for the 6th time since January to the 6th Neurologist and did the same tests (lift your leg, squeeze my hand, etc.) for the 6th time. I should be a Neurologist cause I know the routine now. He said he thinks it is Congenital Myasthenic Syndrome (CMS) cause I had problems when I was young, and did not respond to treatments. We asked him several questions about why this or why that, and he really had no answer. Said that all myasthenic patients are different and that it just depended on the person and the severity of the case. I asked him why in the last 2 weeks I got better and he had no answer. So, tomorrow I'm going to preach to him and just tell him that God healed me and that's why he does not have the answers.

Tomorrow I have another EMG (3rd time to do one) where they shock your muscles several times and then stick a needle in one of your muscles and test it. Then we are going to meet Dr. Engel at 3:30 again and he is going to give us the results of the EMG and start some medicine-an Albuterol pill. Interesting I know, but I read that it is a treatment for CMS. Then he wants me to stay in town for 24 hours and see him again Wed. to make sure I have no side effects from it and to see how I'm doing.

The only flight out on Wed. is at 5:55pm, so I'm not sure we will not make it, but we will try. If not our flight is set for Thurs. at 7:00am. So we shall see.




We are waiting... oh and eating....
View from the Mayo Clinic...

Driving from Minneapolis to Rochester.. Lots of barns, land, and farms...

Signs to Mayo...

Mayo Clinic...

Dr. Engel on the wall at the Mayo...

Dr. Engel's research of CMS on the wall...

Mayo Clinic-Sunday

We left this morning at 7 from Cleburne, got on our plane at 10:30 and arrived in Minnesota at 1:00. It was a great, smooth flight and everything went rather smoothly. We got a sky blue Toyota Highlander (I got to pick the color, George picked the car type) and we finally got to eat at 2:00. We drove 90 miles to Rochester and got checked into our hotel.

I cannot eat after 7 tonight because of my labwork tomorrow and I cannot sleep more than 4 hours tonight because of a sleep test I have to do in the morning. So I'm sure I'll be online tonight because I'll be awake and can't eat.


Tomorrow's schedule:

7:00-Urine Specimen
7:30am- Sleep study EEG
9:45-Chest X-Ray
10:30-Lab Blood Work
11:40-EKG
1:15-Dr. Engel

Tuesday

1:00-EMG

Thats all we have so far.. I'll let you know after I see Dr. Engel tomorrow what our plans are for the week.