SCA7 Through My Eyes

Author: sca7throughmyeyes

  • Chris and Don

    “Let your heart be not faint, Now the journey’s begun; There is One who still beckons to you. So look upward in joy, And take hold of his hand; He will lead you to heights that are new–”  –Does the Journey Seem Long, Joseph Fielding Smith

    I left off with my grandpa Paul’s story…he and his family were living in Nebraska, and he just permanently lost his voice. Going back a bit in time, before they moved to Nebraska, they were living in Alabama.

    chrisTheir youngest daughter Chris was a year old. My grandma began to notice that something was not right. Chris’ physical abilities seemed to be declining. They had a baby chair that helped her to stand and walk, and she had been able to walk in this chair. Then it started to get harder for her to do it, until she couldn’t do it anymore. She also lost her ability to sit up. With these worries my grandma took Chris to the doctor. The doctor said that she was just slow developing; she was what they called a “floppy Baby.”

    Shortly after this they moved to Nebraska, and my grandparents’ worries increased since Chris’ abilities were continuing to decline. They took her to a neurologist.  After examining her, the doctor told them the grim news. He said that she had a neurological disease that would cause her abilities to continue to decline until death. He said that she would hold onto life for as long as she could and then maybe die of pneumonia. This was devastating news to my grandparents.

    In the hallway of the doctor’s office my grandparents held Chris tightly in their arms together and wept. They never thought something as horrible as this could happen to them. It hurt so bad!

    My grandparents did not realize that Chris’ neurological disease was the same as her father’s. The symptoms seemed very different and she was so young, so no connection was make.

    Chris continued to decline rapidly. She started having a hard time swallowing her food. She began to loose weight until she could no longer swallow. They put a feeding tube into her stomach, and my grandma would feed her a special formula through the tube. She began to gain weight and became stronger.

    She started having seizures. One time while at the doctor’s office, she had another one of her seizures, and the doctor said that her heart had stopped for a minute. Then on another day when my grandma was feeding Chris her formula, she stiffened up and began to shake. She was having a seizure again, but this time she remained unconscious when it was over. My grandma pushed on her chest, over her heart, a couple times, and she came to.

    The next day she had a seizure again, and afterwards, she again remained unconscious. My grandma began pushing on her chest, but this time she wold not come to. She rushed to the neighbor who was a nurse and called 911. The ambulance came and took them to the Air Force Base hospital. Chris never came back to life in the ambulance, and she was pronounced dead when she got to the hospital. She was a couple weeks shy of being two years old.

    The neighbor had called Paul, and he met them at the hospital. My grandma told him that Chris had died. He wanted to see her. He went into the room where her body lay and sat with her. This was a very difficult time.

    A viewing was held at the mortuary in Bellevue, Nebraska, and then the family flew to Salt Lake City, Utah with the casket. They had another viewing at the Wasatch Lawn funeral home. A graveside service was held, and Eldred G Smith, the patriarch of The Church of Jesus Christ of Latter-Day Saints, spoke at the service. He is my great grandpa’s cousin.

    When I was in collage, I interviewed my grandma about her stories from this disease. When she told me about Chris’ death, she buried her face in her hands and just sobbed. It had been over 40 years since her death, but the pain of it was still so strong. I cried with her.

    Here are some of her words, “It was really hard for me to lose Chris. The Lord really did bless me. He helped me to feel peace and to feel better about her death. He helped me to go on.”

    “These things I have spoken unto you,images that in me ye might have peace. In the world ye shall have tribulation: but be of good cheer; I have overcome the world.”

    John 16:33

     

     

    After Chris’ death, my grandparents had their sixth child. It was a boy! After five girls, this was a very big deal! My overjoyed grandpa called his daughters on the phone and enthusiastically told them the news. In all of the excitement, a nurse asked my grandpa if Don was their first child.”No, he is just our first boy!”

    don

    My grandpa was especially thrilled to have a son. Behind their home there was a football field. He would take Don into the backyard, and they would watch the games together. Not only was he highly adored, but he was a beautiful baby too. A friend at church told my grandma that Don was the most beautiful baby she had ever seen.  My grandma said that just like Chris, Don was such a sweet baby-a sweet little angel.

    His six week check up is when my grandparents began to see his decline. After loosing Chris this was particularly poignant. And just like with Chris, they would initially not make the connection that this was the same disease. First the doctor discovered that he was blind. My grandma had noticed that there was something wrong with his eyesight because his eyes never focused on things. However, what worried the doctor the most was his heart. A valve did not shut off completely at birth. This was causing some other problems too. The doctor said that sometimes this problem corrects itself as the child grows. This was hopeful news.

    Thanksgiving was coming up, and my grandparents had planned a family trip to Salt Lake City to spend the holiday with their families. As they were driving, Don started having problems breathing. He cried and cried and cried. At Colorado Springs they took him to the Air Force Academy Hospital where they stayed the night. He was having serious heart problems. The doctors there told them that the doctors in Salt Lake City were very good, so they should just keep driving.

    They anxiously drove and prayed the entire time that Don would make it! They arrived, and my grandpa rushed Don to Primary Children’s Hospital. They immediately operated on his heart and fixed the valve that had not closed. By this time his heart had enlarged, since it had to do so much extra work. They kept him in the intensive care unit while he recovered. The nurses all called him “handsome.”

    My grandpa had to go back to work and the girls had school, so they all went back home except for my grandma and their youngest daughter Carolyn who stayed with Don. They stayed with my grandma’s mother who lived there in town. Don was released from intensive care, but he was still not doing too well. He was in and out of the hospital. He was having a hard time breathing.  After a month, they decided it was time to go back home.  They got tickets to ride the train back to Nebraska. My grandma’s mother went with them. They worried about Don the entire trip. This must have been an especially hard and anxious time for my grandma.

    Don was having problems as soon as they got home, so they rushed him to the Air Force Base Hospital. He was put on oxygen, but he continued to decline. At one point he had stopped breathing, and they had to revive him. He would never leave a hospital for the rest of his life.  On a Sunday afternoon my grandma went to be with Don while the rest of the family went to church. As she sat with him, she knew he was dying and was not getting better. She could’t even get him to respond anymore. Later, my grandpa walked into the room, and she told him this. My grandpa desperately told the nurse that Don needed more help!

    They called a Doctor from the University of Omaha Hospital, and Don was transferred there. He was getting more help at this hospital, but there was little they could do. My grandparents sensed that they were losing Don, and they tried to be with him as much as possible. They had work and their girls to care for, so they couldn’t be with him as much as they would have liked.

    This was an especially hard time for my grandpa. He adored his son. Despite these hard circumstances, his spirit remained bright and full of faith. He would go to visit Don on his lunch breaks. A friend had gone to the hospital during one of my grandpa’s visits. He said that he went to help and comfort my grandpa, and instead my grandpa cheered him up. Another time at church my grandpa bore a powerful testimony. Those who knew him knew he was bearing his testimony to Don. It was such a powerful testimony that their friends remembered it many years later.

    Don continued to decline. They were unable to hold him because of his oxygen, so they would pat and rub his arms and head. He was not eating much. One evening after returning home from the hospital, they got a call that they needed to come back. Just after they retuned, Don passed away. He was 6 months old.

    The family (along with Don’s body) flew to Salt Lake City for a viewing and graveside service. He was buried next to his sister Chris. Eldred G. Smith also spoke at Don’s service. They were buried at the Wasatch Memorial Cemetery.

    f6dfcda53e7329a36e4f292d1f60c8a3Again, after my grandma told me Don’s story she wept. It was so sad to see this pain that my grandma will always carry with her.

    Here are her words: “Paul and I were blessed. The Lord blessed us with a peace of mind. We always had a strong testimony of the Plan of Salvation. It was sad to lose Chris and Don, but we knew we would see them again and be with them again as a family. It strengthened our testimonies to have this happen to us. I am thankful for these experinces.”

    Chris and Don definitely had a large impact on their four older sisters, although they were  young. At Don’s viewing, my mom, Cindee, cried and cried while she looked at her baby brother’s body. The faith of their parents really helped them. My grandma said that they knew Chris and Don were with their Heavenly Father and that they were wonderfully happy. With this eternal perspective, they knew everything was going to be ok.

    Along with her sisters, my mom kept this eternal perspective throughout her life. It definitely helped her as she continued to face the trials of this disease. This eternal perspective was so strong in my mom, and has greatly influenced me! It has helped me to realize that it is not so much about the things that happen to us in this life than it is about preparing for the next.

    I am very grateful for the knowledge that Chris and Don are wonderfully happy and they are now reunited with most of their family. I wish I could see the joyous reunion that is still to come with their oldest sister Caren and with their beloved mother! What a sight that will be!

     

    Next post:  When It Rains, It Pours!

  • Grandpa Paul Canfield

    My kids are back in school, so now I have time to write again.

    I would like to start at the beginning.

    Like I said, for me and my story it all begins with my Grandpa Paul. He was 34 years old, and life was pretty much perfect. He knew nothing about SCA7 and that it was in his family. His father Clifton had it, but he was never diagnosed.  Clifton started showing signs of the disease at an older age, so it progressed very slowly and was confused with aging. Also,my grandpa’s only sibling had not begun to show any signs or symptoms of the disease at this point in her life. So he was completly oblivious to the fact that he had SCA7 and the great destruction it was going to cause.

    My grandpa was an amazing person. He did well in high school where he was a star basketball player and received a scholarship to the University of Wyoming. However, he declined and instead went to play for Weber State University. Later he transferred to Brigham Young University. He did well in college, but he put his schooling on hold to serve a three year LDS mission to Japan. He learned and matured much from his experiences there including the time he served as a branch president and district president. When he returned home he attended college for an additional quarter before entering the Air Force cadet program. He excelled in the Air Force. He became a Major, and he flew often. He was a good hard working man.

    These are all great accomplishments, but the greatest of them all began ten years earlier when he met and married my wonderful grandma, Ida Marlene. Shortly after being married, they started a family together, and by the time he was 34 they had five beautiful and healthy daughters:  Caren, Cindee (my mom), Cathy, Carolyn and Chris.

    Caren, Cindee, Cathy, Carolyn, and Chris

    He was a very good husband and father. They were a happy family; no they were not perfect-no family is-but they were happy.

    Because my grandpa was in the Air Force, he and his family lived in many different places. At this time, they were living in Montgomery, Alabama where my grandpa was attending Command and Staff school. This is when he first began to notice his eyesight going bad. He was having a hard time seeing the board in his classes. Unfortunately, his bad eyesight could not be fixed with glasses and continued to worsen. In addition he started to notice problems with his balance.

    Obviously eyesight  is a big deal for pilots, so the Air Force sent my grandpa to the main Armed Forces medical base, Wright-Patterson, to be further examined. Many tests were done until he was diagnosed with a neurodegenerative disease called Ataxia. According to the doctors, Ataxia only explained the balance problems, not the loss of eyesight. This remained a mystery.  My grandpa did realize that the Ataxia was likely passed onto him from his father.  He remembered his dad having balance problems just like he was now experiencing.

    My grandpa then got transferred to Omaha, Nebraska where he was given an office job and would fly very little. This was a huge disappointment to him. He LOVED flying.

    While in Nebraska, he was called into the leadership of an LDS congregation where his family attended (i.e. counselor in the bishopric). During that time their congregation (“ward”) learned the great news that a new church building had been approved to be built for them. In those days members were asked to fund the construction of their chapels. As part of the bishopric, my grandpa met with members to ask if they would be willing to donate money and how much. One day, he met with members for an entire Sunday, and when he came home late and tired that night, he had lost his voice and could only whisper. He never got his voice back and spoke with a whisper for the rest of his life.

    SCA7 does cause a certain part of your throat and tongue to gradually decrease in control. Slurred speech, trouble coughing and easily choking while eating food all happen as a result. My grandpa only being able to whisper from this point on surely was linked to the disease, but he is the only member in my family to experience this particular disability.

    This is just the tip of the iceberg though. Deep tragedy is just ahead and will continue on and on and on… There are two things that will buoy them up and leave them standing with their hearts full of love: their faith in Jesus Christ and family.

    AF Ret. Day-3

    It is amazing to me how much parents can impact their posterity for generations! Yes, I inherited SCA7 from my grandpa, but I am richly blessed by his great faith and for all he did to build a strong and happy family. I do not know why God blessed me so much by placing me among the posterity of my Grandparents, I definitely did not deserve it. I am just very grateful for the grand legacy they have left me!

     

    Next post:  Chris and Don

  • Having SCA7-Free Children

    My sister and I have gone through a lot in trying to prevent our children from  inheriting SCA-7. What we went through was hard, but I would whole-heartedly say it was worth it!

    We have been extremely fortunate to have had the help of our parents in this matter. Before my sister and I  were even married, my dad had done a lot of research on ways we could have children without passing our disease on to them. Through his research he found out about PGD (preimplantation genetic diagnosis). This is done as part of an IVF (in-vitro fertilization) cycle. Together these procedures are expensive (approximately $20,000). My parents foresaw that if my sister and I were ever to marry, we would most likely not have the money to pay for something this expensive, this early on in our lives. So they saved enough money to help finance this for the both of us. Later, when I became engaged to be married, my parents shared all this information, and generously offered to assist us financially, if this was something we chose to do.

    I found out that I had this disease a couple of months before I got married. I knew that if I wanted to have children, I would have to have them as soon as possible. My health and abilities were only going to get worse the longer I waited. My husband and I really wanted a family with children. If my parents had not done all this work to help prepare a path for me to have children through IVF/PGD, I most likely would not have been able to have as many children as I do, four, without this disease.  I am so deeply grateful for this. Thank you, thank you, thank you!

    Also, I want to thank my oldest brother Josh, who also helped to finance an IVF/PGD cycle  for both my sister and I through the company he worked for, Vivint. My other two brothers, along with others helped out through Vivint, too. Thanks!

    Now I will explain in more depth what IVF/PGD is.

    IVF (in-vitro fertilization) is the process of taking eggs from the mother and fertilizing them with sperm from the father to create embryos, the beginning form of human life. This is all done outside of the body. The embryo(s) are then implanted into the mother’s uterus to hopefully result in pregnancy. Extra embryos, not used immediately, can be frozen and saved for later use.

    PGD (preimplantation genetic diagnosis) is as the name denotes. Before the embryos are implanted into the mothers uterus, a single cell or two is biopsied off an embryo after it has grown to be around 8 cells big. This does not harm the embryo. The biopsied cells are then genetically tested to determine if they have SCA7, or whatever disease is being tested for. The disease-free embryos are implanted into the mother. The PGD clinics that I am familiar with will only test for life threatening diseases.

     

    When we learned about PGD, we were highly concerned about what was done with the embryos that had SCA7. The answer to this concern is that they are allowed to die. Embryos are unable to live long  outside of the womb. Since they are not put into the womb, they quickly die. This is something that was very concerning to me and my family. We would essentially be allowing this destruction of life.

    All would agree that the destruction or killing of human life it a most serious matter!  I believe there are great consequences to these actions that extend beyond this life. So it was very important to me to find out how God felt about my situation. My husband and I along with the rest of my family felt that us doing PGD was the right thing. We even felt that God had a hand in helping in the development of PGD. He had helped to provide a way for us to stop this disease from passing onto our children. What a wonderful gift from a loving Heavenly Father and an answer to many prayers!

    My sister Aubree wrote down her experiences in doing IVF/PGD for me to share. In her story it will become more clear as to how it all works.

     

    My IVF/PGD Tale–by Aubree

    Taylor and I began IVF/PGD shortly after we were married. We were living with Taylor’s mom, Kathy, while he was starting his career in teaching. He was taking night classes and during the day took substitute teaching jobs, which was very sporadic and unreliable. During this time he did not get many subbing jobs, which was actually a good thing since he was able to take me to my many IVF appointments.

    We met with a fertility doctor at a nearby hospital and we began the process. Taylor was taught how to play doctor so he could give me shots, lots of them!

    DSCF5835

    First he gave me shots of FSH, estrogen, and LH in the belly twice daily for about two to three weeks  This helped me to produce an abnormally large amount of eggs in my ovaries. A woman will normally produce only one egg a month. I also had frequent visits where the nurses would poke my arm to death trying to get a blood sample. This was so they could make sure my hormone levels were good and high, yet safe. The egg production in mu ovaries was also checked often. Through all of this I felt like a pin cushion, highly emotion and overly blotted. Thankfully, my mother-in-law kept a constant supply of ice cream in the freezer!

    When the time came for the retrieval of my eggs, they were able to remove 25. The doctors worked quickly to fertilized my eggs, which resulted in only 10 embryos. My embryos were allowed to grow for three days where they were about 8 cells big. During this time a few of my embryos had stopped growing and had died. A single cell was biopsied off of each of the living embryos then labeled, packaged and shipped to Michigan. This is where Dr. Hughes and his team worked hard to genetically test each of these cells to determine which embryos had SCA7 and those that did not, PGD. All of this has to be done in two days, when the embryos reach 5 days old, since they cannot live much longer than this outside of the womb. Again, a few of my embryos had died. When we got the results back from Michigan, I only had two living embryos without SCA7 left. They were both immediately implanted inside me.

    Taylor then started to give ma a thick, oil based, progesterone shot in the bum every evening for up to four weeks, ouch! This helped my body to prepare for pregnancy.  Unfortunately, 12 days later I found out I wasn’t pregnant. I was utterly devastated. Although, the same day we also got some really good news. Taylor was offered a long-term subbing job teaching the same class until the end of the semester. This was going to be a great opportunity for Taylor’s career and would help us financially too. We really needed this break. This helped to reassure me that the Lord was still helping us out, even though I was not pregnant.

    I decided to spend the next couple months recuperating from this very emotionally and physically trying experience. After many prayers, we decided to try it again, but with a different IVF doctor. After doing our research, we found a highly recommended fertility clinic.  We met with Dr. Lin and got started with the shots right away. We had such a better experience this time.  Dr. Lin was super friendly and the nurses were awesome!  We were so happy we made this change.

    This time they retrieved the same number of eggs, 25. They were fertilized and 16 embryos formed! After the biopsy and shipping to Michigan for PGD, we were left with 5 SCA7-free embryos. We implanted two and froze the other three, for later use. On February 9th, our wedding anniversary and my mom’s birthday, we found out I was pregnant! It was so fun to call my mom to wish her a happy birthday by giving her this most wonderful news.We were all so happy!

    I had an ultrasound to make sure all was going well and we found out I was pregnant with twins! We were so excited! Everything was going well until one day I started bleeding pretty bad. We went in for another ultrasound and were so relieved to see that we still had a baby that had a strong and healthy heartbeat. Our other baby had died. Dr. Lin was so happy and excited with how well baby A was progressing that it was hard to be sad about baby B. It was a bitter-sweet day. This all happened early on in my pregnancy.

    We later found out that our baby was a boy. He came 3 weeks early and I was only in the hospital for 4 hours to when we first heard him cry. Taylor whispered to me, “That’s OUR baby!” and I was overcome with joy and love! The day and night I spent in the hospital with my precious little bundle of cuteness was glorious.  I was on could nine.

    Sam (17)

    When my baby boy was a year old we decided it was time to try it again with our three frozen embryos. This was a much simpler process since we had embryos that were all ready to go. Our embryos were defrosted and only two survived. They were implanted and we waited and hoped for a couple of weeks until I could take a pregnancy test. I want in for the blood draw and waited for the results. They were negative. I was not pregnant.

    When I found out the news, over the phone, I started crying, and my sweet baby boy gave me a big hug and while kissing me said, “I wav you.” I am SO lucky to have the family I have! They lift me up every time I feel down. Perfect love casteth out all fear. – 1 John 4:18

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    Thanks Aubree for sharing your story.

    My sister is the best mom. There is a lot of love in her family.

     

     

    I will share my stories about doing IVF/PGD in a later post.

    I want to end by saying that my life has been richly blessed. Yes, I am scared and terrified at times for what the future holds for me in terms of this disease. But I am more excited than scared because of my family and the life we will have together. Again, I am so richly blessed!

     

    Please feel free to ask me any questions you may have about PGD.

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    Thank you for your response. ✨

  • What is SCA7?

    This is my favorite picture of my mom.

    mom holding me

    In this picture I am around a year old, and this is also when my mom first started to notice that her eyesight was beginning to go bad. This really scared her because in our family bad eyesight could mean you need to get a pair of glasses or you have the disease(SCA7). Bad eyesight is the first noticeable sign of having this disease. If the eye doctor tells someone in my family that glasses cannot correct their bad vision, then it is almost guaranteed that they have the disease. The doctor told my mom that glasses could not help her. This news completely devastated her and my dad.

    SCA7 (Spinocerebellar Ataxia Type 7) is a progressive neurodegenerative disease. This means that certain brain cells continue to die until it causes the death of the individual. In SCA7, this cell deterioration also happens in the eyes. The only area of the brain that is affected is where motor functions are controlled. As the disease progresses a person with SCA7 will start to become less balanced and coordinated in all their movements. In their walking they will begin to stagger, and then they will need assistance with something like a cane, then walker, until eventually a wheelchair is needed. Eyesight is also lost until complete blindness occurs. These abilities will decline until  it causes death.

    Here is a video of my younger sister Aubree walking with her walker. When I first asked her for a video of her walking, to help me better explain this disease for this blog, she was hesitant to do so. She does not want people to feel sorry for her or think that she does not have a good, livable life. Also, she does not like people to label her as handicapped. Usually when we see people physically handicapped, mental handicaps often are present. This is NOT the case with SCA7. My sister is very much mentally capable! Also, she is a very beautiful person whose talents and capabilities would amaze you despite her physical limitations.  She has been helping me with the pictures and videos on this blog. She even put together the picture at the beginning which shows everyone in our family affected by the disease. She does have bad vision but can see well enough to create great things on the computer. She is such a fun-loving and awesome person to get to know.

     

    When I first saw this video, it made my heart ache so bad! I live far away from my sister and am only able to see her a couple of times a year. The last time I saw her, she was able to walk better than this. She now has started to primarily use a wheelchair since walking has become so difficult. It is extremely hard to watch my sister go through this disease!!

    Ok, back to explaining.

    This disease is inherited from one’s parents and can be passed onto one’s children. There is a 50% chance of passing it on. My grandpa Paul and grandma Marlene had six children. Only their oldest child, Caren, did not inherit SCA7, so their ratio was 5/6. Much worse than 50%. Then their daughter, my aunt Carolyn, and her husband, Scott, had two children, Callie and Lance. They both inherited the disease, so their ratio was 2/2. The worst possible! The ratio in my immediate family is less than 50%. I have three older brothers who did not inherit this disease, whereas my sister and I did. Our ratio is 2/5. If you do not inherit this disease, then there is no way to pass it on. This is a wonderful thing. So unfortunately, in my grandpa Paul’s branch of the family, most of the children born to a parent with SCA7, inherited the disease.

    My sister and I both have children. We have been able to stop our children from inheriting SCA7 through a process called Preimplantation Genetic Diagnosis (PGD) which is done as part of an in vitro fertilization (IVF) procedure. I will explain this in greater detail in a later post.

    This disease progresses very slowly. I would compare it to a child growing. It is not noticeable on a daily or weekly basis, but from year to year you can more clearly see its progression. The rate of progression depends upon how severely a person has this disease. The less severe, the older the age of onset and the more slowly it progresses. The more severe, the younger the age of onset and the more rapidly it progresses. For example, my grandpa Paul’s age of onset was around 35, and the disease  progressed very slowly for another 28 years until he passed away at age 63. My cousin Lance’s age of onset was 10, and the disease progressed more rapidly for 9 years until he passed away at age 19. Also, my aunt Chris and uncle Don passed away at very young ages because they had the disease so severely. Don was able to live only 6 months and Chris only 2 years.

    What this disease does to a person is pretty devastating, but it is not so horrible throughout the life span of the disease. As I already explained, this disease progresses slowly. To better explain this I will separate the life span of this disease into three stages.

    I will define the first stage from the time  eyesight  begins to decline to when walking without assistance is no longer possible. This is the stage that I am in. For me this disease has progressed very slowly. I started noticing a decline in my eyesight almost 10 years ago. I gave up my driver’s license around 7 years ago. Not being able to drive has been one of the hardest things I have had to deal with to date. Although, I have been very fortunate to be surrounded by people that are very willing to drive me places.  My eyesight has become pretty bad. I have to hold things close to my eyes to see them clearly, yet I can still see so much! I am no longer able to run without assistance, and when I walk, I am slow and have begun to occasionally stagger. I think it may look like I am drunk. For balance I often hold onto my husband’s arm whenever he is beside me. From an outward appearance my disabilities are not very noticeable. Life up to this point with SCA7 has not been too difficult. The disabilities that I deal with still seem very small compared to what is coming.

    I will define the second stage of this disease from the point at which a walker or assistance is required to walk to the point at which you cannot use an electric wheelchair. During this stage the disease becomes more obvious to those around you. Daily tasks and getting around become more difficult and frustrating. You are still able to see, but eyesight continues to get worse. Social situations become hard.  This is when the disease becomes a much bigger part of moment-by-moment life.

    I found this picture of my mom using her electric wheelchair. My mom had fallen a couple of times while using her walker, so it was decided that it was time to move to a wheelchair. This was a very depressing step for my mom, since she was going to lose some of her mobility. My dad did some research, and he found this Jazzy (electric wheelchair) for my mom. She loved it! It actually gave her even more freedoms than she had had with her walker.

    unnamed

    At this time I was in high school. Even though my mom had all these disabilities, she was still a very capable person. In the morning she would wake up with us, make the family breakfast before school, and pack us all a lunch. Then she would make the family dinner every might. My mom was in a wheelchair, and she made me and my family all three meals! She also worked hard to take care of our house. With five kids our house was hard to keep clean, but my mom did a pretty good job. She took a lot of pride in her ability to take care of her family. It was hard to see her struggle as these abilities were taken away.

    The third and last stage I will define from the time a non-electric wheelchair must be used (because eyesight is too limited to drive) to the time of death. In this stage things become extremely difficult. Abilities to perform household chores like cooking and cleaning are lost. The speech becomes slurred, and choking while eating happens frequently.  Also during this stage eyesight become very limited until blindness occurs. For our family, depression  becomes severe, and towards the end anxiety increases to the point of severe panic attics. Additionally, the body becomes stiff and hard to move. Assistance becomes necessary for most everything:  eating, bathing, using bathroom, etc.  This stage scares me!

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    This is a picture I took of my mom a couple of years before she passed away. At this point my mom was struggling with everything I just described. It was difficult to understand her slurred speech,  but as her daughter I could still understand her. She spent a lot of time in bed, and many times I would sit next to her to talk with her. Yes, she had an extremely large dose of hard and discouraging times. I remember once she told me that at her funeral she wanted a disco ball and dancing. She wanted everyone to celebrate with a grand party because she was finally freed from her crippled body! You should know that my mom had quite the sense of humor. As I watched my mom live through it all, I was so amazed and awed by her strength. Her gratitude was inspiring. When she was discouraged, which was often, she would count her blessings. She was truly grateful for the few things she could still do. She had such great faith, hope and love. I know the Lord was with her. I love you mom. Happy Mothers Day!

    I want to end this post with a video of my cousin Callie. It gives you a good sense of how the disease affected her. She passed away a year and a half after the filming of this video. Just a little info about Callie. She is THE sweetest, most pure, and most fun person to be around that I have ever met. I loved all the time that I spent with her. I am sure that everyone who knew Callie will agree that the time they spent with her made them a better person. Memories of her make me smile real big. I love you Callie!

     

    Next Post:  Grandpa Paul Canfield

  • I Have a Story to Tell

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    Hi, I’m Mandee and I have a disease called SCA7 and I have a story to tell! Actually, I have lots and lots of stories to tell. SO many that it will take me years to tell them all. I want these stories told here on this blog for two reasons. First, so I can record them. Second, so I can share them.

    The stories I want to share are all related to SCA7 (Spino Cellabellar Ataxia Type7). This disease is very unique. In fact, it is called an orphan disease because very few people have it. It is also unique because of the way it dramatically affects not just one person but many family members for generations.

    These stories will not just be about me but also about my other family members that have SCA7 too. This disease is genetic, meaning that it is in your genes and therefore can be passed onto one’s children. There is a fifty percent chance of passing it on. The picture below shows those of us from my family, starting with my grandpa Paul and progressing from there, who have inherited SCA7. There are 10 of us, and all have already passed away from this disease except for my younger sister and me.  Because of modern medicine and advancements, we have been able to stop the passing of this disease onto the next generation. So this means, in our branch of the family, my sister and I are the last ones.

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    As far as I know, this disease does go back from my grandpa Paul to his father and grandfather. Which means that I do have distant relatives with SCA7. But for me and my story, it all starts with my grandpa Paul. I knew my grandpa well, along with those in the above picture. We are a close family, and we have done a lot together throughout my life, except for my Aunt Chris and Uncle Don who passed away at very young ages. Although, I was told many stories about them and their deaths by my mom and grandma. They hold a very special place in our family.

    I feel an extra special bond with each of these family members. I treasure their examples and life stories. They give me strength and hope that even a life with SCA7 can still be really good. Their lives were full of great people, family, love, hope and faith. I think of them a lot and feel like they are around me at times, like they are my guardian angels. I also feel like they want me to share their stories.

    It is difficult for me to put into words the effect that this disease has had on my life. I would use words like huge, dramatic and life changing. It has caused my soul to feel so much pain, anguish, fear and frustration, and it has broken my heart over and over again. It has played a large part in what has shaped me into the person I am today. Yet, through these experiences, I have learned some really valuable lessons. One of the many great blessings this life has to offer is knowledge. The world we live in has become very confusing as to what is truly good and right or truly bad and wrong. It is interesting how loosing abilities like walking, coordination and eyesight  along with suffering and death can help to bring into better focus what things bring lasting and real happiness, peace and joy.

    The greatest blessing I have found through the experiences from this disease and seeing the examples of those before me is greater faith — faith in God and in His son Jesus Christ and faith that they love us so very much. We can trust them! This great truth that I have come to more fully know is the most valuable thing I possess. I am so grateful for the experiences and examples that I have had and seen that have strengthened my faith. Even though these experiences were and are hard, very hard, to go through, and worse…to see others that I love go through, it just increases my hope for that better place that has been promised us by the Lord.

    So are you ready to hear some stories?

    Well, first I need to explain what exactly SCA7 is and what it does to a person.

    Coming very soon…stay tuned.

    Next post:  What Is SCA7?