Sept 30 My CMT Journey continues.....

I didn't challenge anyone to an ice bucket challenge and the only suffering endured was reading my lengthy posts. “Thank You for supporting, and praying for a cure for Joel, my sister Patty, myself and all the other CMT sufferers”. My motives are threefold in sharing my journey with you this month. First and foremost is to encourage you if your prayers are not answered in your favor to not loose hope. It is so easy to want to give up on your faith. You may think if their really is a God why does He allow so much suffering in this world. To that I say, He is always with you. We are the ones who turn our backs on Him. He never promised life would be easy and He never promised He would grant our every wish. What He does promise is “Never will I leave you and never will I forsake you.” Deuteronomy 31:6. He sent us His son, Jesus Christ, to comfort us and His spirit to encourage us. I could never endure the hardships without my faith and hopes in my Lord. “What we suffer now is nothing compared to the glory we will receive later” Romans 8:18. Next is to get the awareness out there of what CMT is and how it affects us. Lastly to show what is being done for a cure and to request donations to expedite the process. To end my final chapter I have added the latest updates in research.

The seven stages outlined below provide more detail about the strategy and progress in drug development for CMT1A. Stages 1-5 have been completed or are ongoing, and stages 6 and 7 will begin soon after the completion of stage 5.

1. Develop Laboratory Models:The fact that the genetic mutations causing CMT can be replicated in laboratory models has opened an extraordinary window of opportunity to develop treatments for CMT1A.
2 Build Cellular Assays:With CMTA support, a series of drug-screening assays have been developed which are being used to identify and prioritize compounds that can reduce the high level of the PMP22 gene that causes CMT1A.

3. Screen the Cellular Assays with Different Pharmaceuticals:

4. Test the Candidate Drug Compounds in Laboratory Models:The CMTA has engaged a contract research organization, Psychogenics, to facilitate and expand drug testing in laboratory models of CMT1A. This capability expedites our ability to test several versions of a given drug type. It also helps us to collaborate with a variety of pharmaceutical partners that have candidate drugs to test so that we can test many candidates in parallel rather than one at a time. The laboratory models of CMT1A are being assessed to determine if the compounds change the grip strength, balance or sensory function in the model. These results will help us determine which compounds might improve common CMT symptoms while improving the underlying problems in peripheral nerves.

5. Test the Compounds for Dosage, Toxicity and Viability:For the four compounds identified in previous years, Dr. Michael Shy and the CMTA Centers of Excellence are conducting safety and toxicity tests for the most viable candidates. This is a major step required for eventual translation of these findings into clinical trials for CMT1A patients.
6. Conduct Pre-clinical Phase 1 Human Trials:A small group of strong, healthy people without CMT will take the dose of the compounds to test for human side effects and toxicity.
7. Conduct Pre-clinical Phase 2 Trials:Through the CMT Centers of Excellence, small groups of people with CMT1A will engage in pharmaceutical trials to understand the positive impact the drug will have on CMT. Once these trials are concluded and the FDA has approved the use of the drug, it can be delivered to the market, accessible to everyone with CMT1A.

I will occasionally update my blog so check back once in awhile if your curious.. I am truly humbled by the out pouring of love, encouragement and kindness you bestowed upon my postings. Thank you seems such a delicate word to end this post. But from the bottom of my heart I am forever grateful to you all. I love you and I pray God will bless you! P.S. If anyone gave towards research If you feel comfortable, could you let me know how much you contributed. I would like to tally up how much was given this month and post tomorrow. Hugs
If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDAhttp://www2.mda.org/goto/CMTChallenge

Pretty Patty

Joel and I

Sept 29 My CMT Journey continues.....

One night while thinking of ways to get the awareness of CMT out there, I felt a nudge to tell my story. I am not one who comfortably shares about being disabled. I always wear pants to cover my leg braces and never posted pictures of my hands curled. Sharing my CMT journey with you has been both heart wrenching and healing. I made myself transparent in hopes that it would bring awareness and DONATIONS for researching a cure. I know of many disabled friends are judged because they don't look disabled or some days they can walk and on other days need a wheelchair. There are babies diagnosed at birth with CMT, others diagnosed as children. Some don't show symptoms until later in life as adults. Some can run and some can't even walk. Some of us use walkers or wheelchairs. Most wear leg braces. Some have breathing problems which causes life threatening conditions, “CMT affects the phrenic nerve (which innervates the diaphragm) and the recurrent laryngeal nerve (which innervates the larynx)” (CMTA Fact sheet Breathing problems). Some can lift weights. There are those who live a very functional life and unfortunately others who die way to young. Some work while others are on disability. This disease affects each of us differently. But we all share a common bond in that a cure be found soon and progression to stop." What is faith? It is the confident assurance in what we hope for is going to happen. It is the evidence of things we can not see yet." Hebrews 11:1 Researching a cure has come far in the last fifty years since my diagnosis, but we still have so much further to go. I pray the day will come soon that the use of leg braces as the only treatment would be old school. I believe researchers will be able to find a drug that helps stop the progression and cure or prevent our children and future generations of having CMT. If I didn't see any signs of hope for a cure I would not have shared my story or worked hard at finding funds to quicken the process. . “As of now there is no cure. Drug discovery and development is never easy, but the CMTA STAR program has identified new approaches and even new opportunities and partners, and is on the verge of having approved drugs that could be appropriate for use in laboratory models of CMT1A and clinical trials for individuals with CMT”. (CMTA Charcot-Marie-Tooth Association - STAR - The CMTA Strategy to Accelerate Research Neuromuscular Medicine) Please take the time to view this video and hear of others stories and the breakthroughs with CMT? Star Charcot Marie Tooth disease video http://youtu.be/7Ow7f_UFX6o If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDA http://www2.mda.org/goto/CMTChallenge

Casting and measuring
feet for braces

Finished product all
 taped and ready to
ship out

My Braces

September 28, My CMT Journey continues......

I need a lot of help from my family. I want to thank my husband Doug for doing all the cooking, shopping and some of the chores around the house. To my son and future daughter in love, Joel and Sara, thank you for always being available when I need you, for those Sunday dinners and lots of hugs. To sister's, Patty and Laura, for helping me with all my needs in getting in and out of places and taking me to all my errands, you have become my feet. To my brother Ed and my sister in law Angie who have become my hands when I am unable to do things. For Angie's laughter in bringing sunshine into a room. For her help with fundraiser and medical alerts. To all my friends who have held me up in prayer and have been a tremendous support. My cousin, Debbie, who helps me when I need her. To my nephews who bring me joy. To my niece, Christine and her children for their support and love. To my precious grand daughter, Princess Zaniya, who brings out the child in me and the comfort of her love and hugs. It hasn't been an easy transition and I haven't been the gentlest of souls. So before we come to the end of my journey and as I am trying to become as transparent and real as I possible can, I must share the ugly side of me as well. I have whined, cried, snapped, cursed, and had pity parties. I said things that were unkind and I may have taken my loved ones for granted. To all those whom I have hurt, I say with all sincerity,“I'm sorry”. It has been difficult to work as hard as I did and not see results. I have taken my frustrations out on those closest to me. I threw guilt and bitterness around like flies on rotten fruit. It has become a spiritual battle of good and evil. In having been active in helping others in need and with church related activities it was hard for me to be on the receiving end. Many times I sat alone and sad as life revolved without me. Everyone was busy with work, families, vacations and ministries. I even had to refrain from facebook at times as it was hard to see others enjoying life. I tried to take the last three years of my life and produce good fruit as well. I memorized Bible verses that bring me hope. Late at night when I can't sleep and I become emotional I recite from memory my comfort of hope. I sleep well. I am learning a new way of life. I see adventures but not as before. It will be a learning experience but it will be exciting. I will have to find different ways to get around. Does it matter if we walk, run or use a scooter? When we get to our place of destination, how we get there is not as important as getting there. On a CMT Facebook page someone asked a woman of maturity what her secret was in living a fulfilling life with CMT, her answer went something like this, “I get up, I get dressed and I get out”. I am looking forward to this new chapter of my life. Perhaps next year I'll share a different journey with CMT. I love my family and friends. I am looking forward to lots of shared adventures with you all. “The rain and snow come down from the heavens and stay on the ground to water the earth. They cause the grain to grow, producing seed for the farmer and bread for the hungry. It is the same with My word. I send it out and it always produces fruit” Isaiah 55:10-11. If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDA http://www2.mda.org/goto/CMTChallenge

The next generation 

Fun times with family

Love my family

Sept 27, My CMT Journey continues....

Last weekend was our ,1^st Annual Shark Tournament, CMT Fundraiser. I arrived at 7:45 to a muddy, drizzly day. I pulled my walker out of the car and pushed in the mud to get to the table where we were registering our fishermen and women. Sat with my coffee and said a prayer before the day started. A few people arrived and sat waiting for our boats to come. My son, Joel, tried calling me but I was busy registering our fishing team. A few minutes later, a distraught Joel comes barreling in to announce our Captain Dave's boat would not start this morning and Captain Steve sent a text message saying he was out of town and would not be coming. Those were the two boats we had arranged to fit out team of 7 people. Captain Dave tried contacting other fishing captains he knew to help but to no avail. I called a family member who does charters and she announced that no one was going to go out in this weather she recommend we cancel and reschedule. Well we have sandwiches and salads already made, we have people coming from two hours away, and we have people already standing by waiting. One thing about those of us who have CMT is quitting is never an option. If anyone one knows what it's like to persevere it's people with disabilities. So once again I prayed and prayed hard. A team of fishermen and women came to register and had their own boat. “Do you have room for more?” I asked. They didn't. So off they went. We still have 4 people who showed up and are waiting. Two people from the other coast called and said they would come for lunch but canceled fishing. Finally a friend of my sons came with his team and was able to fit the four men waiting on their boat. Thank You, Lord. Now that we had the fishing team out it was time to set up for the lunch and raffles. A half hour after our fishing team departed the heavens opened and it poured for over an hour. Thankfully no lightening. Another family heard about our tournament on the CMT facebook page and drove two hours to support this fundraiser. Our out of town guests had a son, Anthony, age 13, first in their family who was diagnosed with CMT. We had the opportunity to share information and support. My sister, Patty, a CMTer, and other family members helped set up our lunch and raffles. Joel took a few land lovers along with our new friend Anthony and fished off the bridge. I went around with my scooter to introduce myself and help sell raffles. We had over 40 people show up for lunch. Our fishing teams arrived and we took pictures, gave out prizes and raffled off some great gifts. No sharks were caught but it was a great time for CMT friends and family to come together in fellowship and fun. We are still accepting donations so if you haven't given and would like to you can give to http://www.cmtausa.org/url/sharkchallenge. or to the MDA http://www2.mda.org/goto/CMTChallenge

A very special thank you to all our friends and family for coming out to this event and supporting us. With your help they will find a cure and stop the progression of CMT.

A round of applause goes out to the following businesses for their generous gifts.... Olde Fish House Marina, Joel @239 Mobile Detailing, Capt DJ at Florida Sons Fishing Charters, Capt Cathy Eagle @ Capt Jack's Boat Tours , Publix, Danny Yates Landscaping, Marine Trading Posts, Barnichol Hardware, Regenica by Stephanie, Vapin Apes, Rob's Bait and Tackle, Cape Tool and Tackle,Anderson Tackle, Applebee's, Outback, Island Grill, Olive Garden, Perkins, Bonefish Grill, The Morrings, Saltwater Smoke House, Bubba's, Jets Pizza, Target, Golden Corral and Winn Dixie, 

 

Team #2

Team #1

Our CMT Friends and Family

Sept 26 My CMT Journey continues...

 Last November my sister, Laura, gifted me and my family to a wonderful cruise. I was so blessed in having a time filled with so much laughter. I struggled with getting around but my family was great, especially Laura, who pushed me when walking was difficult. I do remember one time when an attendant carried me off the Tender ship and onto the cruise ship after a day at port. He was an answer to my prayers. Wherever I go I usually need help with someone opening the doors for me. I joined two bible study groups. I drive to my destination and someone always comes out to get my walker, help me into the house, serve me coffee and delicacies. Totally spoils me. Thank you guys. I am so amazed that Florida being a handicap friendly state how unequipped they are for people with disabilities. Places like physical therapy, doctor's offices and many restaurants make it difficult to get into. No one has automatic door openers. I was at Target in the electric cart and had to use the restroom. The hallways are so narrow where the bathrooms are. They actually have one for those with disabilities but you couldn't fit, a walker, a wheelchair or a scooter in there. One time while trying to get into the restroom with the help of my sister, a man was so concerned in watching me get out of the scooter and hold onto to my sister to try and get in  he walked into the woman’s room. We were laughing so hard both of us almost fell. Just a few days ago I was in Target and had to use the facilities. My sister was talking to the manager about getting a gift card for our fund raiser. So I went in the electric cart. I tried to fit into the woman's restroom. I asked someone if they would hold the door open for me. She held it until I was half way in then let go. Guess she had to go really bad. Well  now I'm stuck. The back wheel is rubbing against the wall. I can't back up as the door is leaning on me. Thankfully a woman was waiting for her daughters so she held the door open. Now I back out and pull in. I turn the cart and try and go into the handicap facility. I couldn't reach to open the door. I had to ask for assistance, well the

next  person who comes out of the stall happened to be the same woman who left me dangling with the door pushed against me. With a look of annoyance, she opened the door, I got in did my business and was able to push the door out with the scooter. Now I'm the only one left in the bathroom and I can't reach to open the door to get out. I was thinking this must be how a dog feels waiting for a human to let them in or out. Should I start barking? Maybe someone will let me out. I had to sit there a few minutes until some sweet young girl around 9 opened the door and held it open for me. My sister finally arrived and helped hold the door so I could get out. Well you know I won't let this one go. I already called the manager. Perhaps my job is to be an advocate for the disabled and go into stores in the electric cart and see how doable it is to use the restroom. If I didn't have the support of my family and friends I would be devastated.

If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDA http://www2.mda.org/goto/CMTChallenge

My Cruise Caretaker
Patty, Nick and Laura

Patty, Laura and I

Me scooting along

Sept 25 My CMT Journey continues....

During one of my exercises, in walking with a cane, my right knee buckled and I crashed hard on the floor. I now fractured my lower back. More rest followed by more in home therapy. My sister Patty is more functional but was having difficulties with walking and back pain. We both researched and visited many orthotic specialists in finding a different leg brace to help us. I wanted to try a new type of leg brace called Phat Brace. They are the Cadillac version of what I wear now. However, it is very expensive, after insurance it was $900.00 out of pocket. So my niece, Christine, surprised my sister and I with a fundraiser garage sale. She raised enough money to cover our expenses. Unfortunately for me the new braces didn't help at all. My legs were getting weaker and nothing was going to give it support. My niece did find an electric mobility scooter at a garage sale and so the money that was for braces went towards the new scooter, repair and a new battery. “If knees get too weak the person no longer can stand reliably and falls become so severe that a cane, canes, a walker or an electric wheelchair or scooter is used for safety and mobility. A person can get to the point where they'd rather use a mobility aid than risk more pain and damage from falling. It is then that mobility aids are accepted and used willingly” (CMT News). I came to the realization that in the last three years of falls, fractures, surgery and physical therapy I am as strong as I'm going to get. MDA doctor confirmed what I thought. He told me to stop all therapy, stay as active as I can, but don't over do it. I already spent three years home bound. I had my praying friends come by and we had “Ellen's church”. We sang, prayed, had communion and a message of hope. What is God's purpose for me? I didn't understand all that was happening and why I couldn't get my strength back. I told my husband one day at dinner, “I don't think I'm going to get better. I think this is it”. My husband responded, “Don't say that I don't know how much more I can do”. He was already doing all the food shopping and cooking. That night I cried myself to sleep. I felt so useless and a burden. It was then that I started the grieving process of loosing my independence and use of my legs in being able to walk functionally. I needed to use the walker from now on. I'm just at a high risk for falls. Patty, walks without the use of any aids like a walker or cane. She shops, cooks, cleans, socializes and helps her husband with work related issues. I know some see Patty and how active she is and compare me to her. I am left at times feeling like a failure in that others think I don't push myself enough and I'm being lazy, or making excuses. If you ask my husband, Doug, how hard I work just to maintain what little muscle I have, he will tell you I  work at it daily. I understand as my loved ones watch me struggle they want me better so it's their way of support.“The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe.” (Charcot-Marie-Tooth Disease Fact Sheet, National Institute of Neourological Dosorders and Stroke) Research has come far over the last 20 years. They are working on eradicating CMT like they did polio. Below is a model of a new drug they are developing and having some success with rats given the cmt gene. But research costs money. Every dollar given helps people like my son and future generations. If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDA http://www2.mda.org/goto/CMTChallenge Pictured below model of research, Chris at garage sale, Paty, Chris and me. Me with my walker

Sept 24

The first picture I am hoping shows up is a drawing of healthy nerves and then one effected from CMT. The cmtaus.org takes 100% of the proceeds and use it towards research. The MDA has 77% of donations going towards research and the rest is utilized for camps for kids, clinics, repairs ect. Please as my story winds down I ask if you have any funds left in your pockets to help speed up the search for a cure so my son and other children do not have to experience what I and others are enduring. 

My CMT Journey continues.....One morning I walked quickly  to the ringing phone. I tripped and both my knees popped out causing me to fall on top of my left ankle on the tiled floor. I was in so much pain. I crawled to a chair but couldn't get up. Doug had to help me into bed. My sister in law Angela worked for a neurology group and set up an appointment for me. It was my 56th Birthday. I had fractured my ankle and had to stay off of it for 6 weeks. It was only a week later that Doug 's back went out on him. He and I were both a mess. Our church helped with dinners and my son was a tremendous blessing in doing what he could. Usually in September, Doug and I, would spend a week at our honeymoon spot in Manasota Key. We would get a cabin on the beach and spend time in tranquility. Well this is the day that my dreams died. I would no longer be able to sit at a beach or wade in the water. I didn't realize the hardship waiting for me. I tried so hard to get my strength back. I memorized and quoted this verse from Psalm 121. “He will not let you stumble or fall. He who watches over you never sleeps”. I would recite that prayer before and during my walking attempts. When I was able to put weight on my legs, I walked outside to do some much needed weeding. As soon as I walked on uneven ground my knees buckled and I fell. When I vacuumed my knees buckled and I fell. I tried to push myself to walk from one side of the room to another, my legs would shake and I had to grab onto the couch or counter top to keep me from falling. I was emotionally, physically and spiritually wounded. I learned the importance of not using the word of God out of it's contexts. During my next visit to the MDA doctor, I was told more physical therapy.   He explained how it takes time for CMTers to get their strength back. So from March to the end of May I had in home physical therapy. During one of the leg exercises I was feeling my right knee rubbing against a bone. I mentioned it to the P.T. And he kept saying if you keep your leg straight your knee shouldn't be moving. Therapy ended but my knee became worse. I couldn't even walk without using a walker. Back to the doctors. I had a detached knee cap, a bone chip called a pearl floating around and a torn meniscus. It was now July and surgery was set for the beginning of August. A week after surgery more physical therapy. I had in home therapy for eight weeks than on to out patient for another eight weeks. I stopped therapy in December when insurance ran out. There are over 70 different types of CMT, and knowledge is still unknown in the medical field. Many doctors, physical therapists and medical team do not know how to treat all CMT patients. My first physical therapist pushed me to the level of damage not strength. I had to learn this fact the hard way. One of my purposes in telling my story is to educate our medical team as well as friends and family. If you feel led to give any donations for researching a cure, you can give online at http://www.cmtausa.org/url/sharkchallenge or to the MDA http://www2.mda.org/goto/CMTChallenge Pictured here me durring better times at the beach and my grand daughter going for a ride on my walker