SCA7 Through My Eyes

My younger sister, Aubree, amazes me. She has been and is such a bright example of optimism and hope to me. She started showing symptoms of this disease at a fairly young age, and that meant that her not too distant future would be very, very difficult. Knowing this, she has tried to enjoy life to its fullest and taken every opportunity available to her to make her life a good one. This first part of her story is sad, but it is also filled with many wonderful experiences. If you were to ask her, I believe she would agree that her life has been a charmed and blessed one. Through all her struggles to date she has learned the value of seeing the the positive and good in life (probably because seeing and focusing on the bad would be too depressing and not how she wants to live). She has persistently practiced and lived by optimism and positivity such that it is now a gift of hers, even a character trait. At the time of this publication she sits in a wheelchair and is almost completely blind, yet she remains optimistic and smiles often and sincerely. She is amazing.

Aubree’s SCA 7 story is very inspiring. I have been looking forward to sharing it. Because she lives so close to the Spirit, she has had some incredible experiences. Her attitude and actions in dealing with the disease have taught me more about what faith is. I hope you feel her faith throughout this post.

Aubree is the youngest in our family. As the “baby” of the family, you might say she is spoiled as my parents have given her most of what she has asked for over the years. My siblings and I do not mind at all because we just want her to be happy too.  

Her story begins around the time she started Junior High. A couple years previous to this, we all found out that our cousin Lance had inherited SCA 7; he had started showing symptoms at the young age of 10. This shook us all pretty bad, and we naturally started to worry about the same thing happening to us since our mom also had SCA 7. The year Aubree started Junior High, we found out that our cousin Callie was also beginning to show symptoms. This was a devastating and scary blow. It made the personal fear of inheriting the disease increase two-fold.  

My dad had read that color blindness was one of the first symptoms to show itself with this disease. He found a color blindness test in the encyclopedia, and out of curiosity, he tested each kid when we got home from school one day. He did not tell us what it was for. We all passed the test, except for Aubree. He then knew that she had inherited this disease. He kept this realization to himself. Here are his words about this experience: “That night I could not sleep. I went into the other room and poured my heart out to Heavenly Father. I begged Him for a blessing for Aubree. I asked Him to let me suffer rather than her. Even when I returned to my bed, I wrestled with the Lord all night long. It was the only time in my life that I prayed all night long. By morning, I was weak and humbled. I had slowly come to the understanding that what I was asking for was not Heavenly Father’s will. But I also had slowly developed a strong feeling that my Heavenly Father and Savior would be there for us every step of the way and bless us with strength. They spoke peace to my mind concerning the matter.”

That next summer (before Aubree started the 8^th grade), we went on a vacation to our grandparents’ cabin at Bear Lake. This is a place we went to often, spending time with our extended family; it was like a second home. One day while there, Aubree was by herself on the patio looking out onto the lake. It was a familiar and peaceful scene. She said that in her mind she could see herself in the preexistence, and the Lord was asking her if she was willing to have this disease, SCA 7, when she came into this world. She responded that she would. She then knew that she had this disease. A feeling of comfort and love came to her and lingered. She knew it would all be OK.

At the end of the summer, she went to the Junior High with a friend to complete her registration for the upcoming school year. As part of registration there was an eye test. It was an E chart where you had to say what direction the E was facing. She could not see the E at all and completely failed it! Afterwards, the test administrator gave her a paper that said she needed to go to an eye doctor. This completely shocked Aubree! She knew already that she had this disease; she just didn’t realize that the symptoms would start so quickly. She thought the disease would manifest itself in her later in life, like her mom, coming after she was married and had some kids… This realization really scared her. She was still so young, and this meant that the disease would likely progress much more rapidly for her. She was not ready for this!

Aubree came home completely shocked and devastated. She was very nervous to tell my mom about it, so she briefly mentioned to her that she failed the school eye test, tossed the paper on my mom’s dresser, and then quickly disappeared into her own room.  I remember coming home and finding my mom very upset and in tears. As I tried to figure out what was wrong, my mom showed me the paper, and she told me that Aubree gave it to her before running to her room. As I read the paper, I realized what it meant. Oh no, this could not be! This was so horrible! It was such shocking news that I didn’t know what to do. My mom kept on saying that it was all her fault. I tried to reassure her, but it was futile. I could not stop her guilt and tears.

My dad soon came back from work, and he went straight to visit Aubree in her room. He reassured her of his and our family’s love for her and also the Lord’s love. Aubree remembers the love that she felt really helped calm her fears. My dad then told her that she needed to talk to her mom because she was consumed with guilt. Aubree was the only one who could reassure my mom by letting her know that she was going to be OK. The three of them decided to go see the doctor, just to be sure. They knew that they would have to see a neurologist (not an optometrist) to address her eyesight, since it likely was more than just simple bad eyesight corrected by glasses. They were able to make an appointment for the next day with a Dr. Degree. She was someone who had already done a lot of research on this disease and knew our family. After this appointment, they would have a definite answer.

My parents were very vague about all of this with me, and Aubree would not talk to me. I felt very shocked by it all. All I really knew was that they were going to a doctor the next day to “confirm things.” I thought that this could not be happening to our family, especially Aubree! That night I prayed harder than I had ever prayed in my life to that point that she would only need glasses. I hoped so badly it would be so. I don’t think my three older brothers knew what was going on at this point. Luke was getting ready to start his senior year of High School and was busy with friends. Dan was on his mission in Mexico, and Josh was living away from home, attending BYU.

The next day Aubree and my parents made the commute to the University of Utah hospital to meet with Dr. Degree. Many different eye tests were performed, and they took a number of pictures of Aubree’s eyes. She said it was an exhausting experience that took a long time. In the end, it was officially confirmed that she did have SCA7, and it had begun to affect her eyes.

Their drive home was somber. My dad had already discovered that my sister had this disease from the colorblindness test he did, but it hurt him to see how hard it was for her. My mom felt terrible that she had passed this disease onto her daughter. The disease was my mom’s biggest trial in her life, and now it was going to be her daughter’s too. Aubree also already knew that she had it, but again it was happening much sooner than she had expected. Her plans for the future were going to be very different and much more difficult than she had initially hoped. It was a subdued and sober moment in time for them all.

When they returned home, Aubree escaped to her room, and just cried and cried and prayed for help. She was again filled with fear. However, while praying, she said that she felt an overwhelming feeling of love. She said that she could feel her Savior’s arms around her. It was a poignantly comforting experience. And so once more, the love of her Heavenly Father and Savior, and also from her family, helped push her fear aside. She has commented since that one scripture that really resonates with her is the one that says “perfect love casteth out all fear.”

Our whole family gathered together that night for dinner, except for Dan who was in Mexico. By this time we had all heard the results from the doctor’s visit. As we sat around the table, my dad told us about the doctor’s visit — that it confirmed Aubree had SCA7 and the disease was beginning to affect her eyesight. This was scary because she was so young which meant it would progress much more rapidly than it had for our mom. Every one of us had tears falling heavily, something I had almost never witnessed my brothers and dad do. It was a heart wrenching and sad time! Then my dad continued speaking, and I will always remember what he said. He said that if we take this disease a day at a time, it is not so bad. Imagining a future with this disease is extremely scary. It is a very depressing and heavy thought to carry. But dealing with it one day at a time helps the person affected to realize what abilities she still has, to use them, and to be grateful for them. This is a much better way to live, bearing a disease bit by bit instead of all at once. It makes it doable. I know from many conversations with Aubree over the years that this is something that has helped her not to worry excessively or be anxious about her future. In this moment, it also helped to be together as a family. As we sat around our kitchen table and grieved together, we felt the power and strength that comes from a family.

My bother Dan eventually received the news while he sat in a small café in Mexico that had a public computer with the Internet. He said that he began to openly cry as he read this news in an email my dad had sent him. Again, it is rare for any of my brothers to cry, especially “strong as an ox” Dan, but this was such sad news to hear! Now all the family knew and our hearts filled with tender compassion for our younger sister and the trial she would face.

Aubree was determined to use whatever abilities she had for as long as she was able. One example of this is swimming. Three of her four older siblings were on the high school swim team, so she wanted to do this also. Not being in high school yet, she decided to join the rec swim team. She loved it! Then later when old enough, she joined the high school swim team and enjoyed it too. I swam two years with her. Our team held two-a-day practices, one at 5:30 am and the other right after school. I really struggled to make the early morning practices. I was our driver, so many mornings Aubree would wake me up to go. I remember often saying “I can’t!” She would beg me and be annoyed if I stayed in bed. Then, if necessary, she would call a swimming friend to pick her up, or worst case, miss practice all together. If it weren’t for me, she would have made it to many more practices. In fact, she actually helped me to make a lot more than I would have otherwise. With her hard work and love for the sport, she excelled and competed in the state competition. Swimming is something she would enjoy doing for the next 10 years of her life.

Aubree feared that this disease was going to make her high school years hard, but fortunately, this fear did not come to pass. The disease only affected her eyesight minimally, and her balance was still good even when she graduated. In class, she could see the board if she sat in the front. And when that got too hard, she asked her teachers to say out loud what they were writing. She was even able to get her driver’s license. It was limited though, so she could not drive on the freeway. Amazingly, her friends didn’t even know she had this disease, and she didn’t tell them either. She kept it a secret for as long as possible. This was something she did not want us (her family) telling others. It was important for her to be treated normal. And mercifully, she did have a very normal and even charmed high school experience.

High school is often all about friends, and Aubree had a really good group of friends. They gave themselves a name: the M.A.U.D. squad (with the secret meaning of More Air Under Dair!). This name is telling of how much they giggled and were silly together. They had funny senses of humor and fun personalities. The MAUD squad spent most of the school week together. They were in a Unified Studies class at school. This is an all day class every other day where you participate in a variety of outdoor activities. On the weekends, this same group socialized together regularly too. Aubree is a very cute girl, along with all her friends. In Utah there are many school dances, and I think the MAUD squad got asked to every school dance. These relationships and experiences added to what was again, a wonderful high school experience for Aubree. She was blessed to have such great friends then, and they all still keep in touch today. However scary this disease was at the time, it positively pushed Aubree to seek to experience more and enjoy the people and time she had from a young age.  

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The summer after graduating high school Aubree landed a sweet summer job at Aspen Grove, a summertime resort in the Mountains up Provo Canyon Utah. It was a wonderful and unique opportunity. One of her church leaders knew the owners of Aspen Grove, and this connection opened the door for her and one of her MAUD squad friends, Carrie, to get jobs there. All summer long many groups or individual families come to Aspen Grove to enjoy fun outdoor activities and food while staying in cabins. The employees live there at the beautiful mountain camp as well, and they enjoy the good food and same fun activities as the visitors (but during their time off). And they get paid for this! Aubree and Carrie had a great and memorable summer working there. They enjoyed their “Tepee Tuesdays” (when they weekly slept in a Teepee there), swimming in the pool, savoring the beautiful outdoors, eating great food and bonding with their co-workers. Aubree tells the story of an eating contest with all the workers; it was for breakfast one morning. They had Belgian waffles with whip cream and strawberries. As typical, the contest was to see who could eat the most waffles. Aubree ate a whopping 11, wowing everyone including her large, male opponent that could not keep up with her. It is funny because Aubree has always been a skinny girl but with a big appetite. While working at Aspen Grove, she and Carrie would go running or jogging everyday on long runs. They were training to run a half marathon. Aubree could not run fast because of her declining balance, but it didn’t stop her. The regular long-distance running helped her appetite and possibly gave her the winning advantage. At the end of the summer, these two friends ran the Provo Canyon half marathon together. They definitely had a very full, fun, and adventurous summer working at Aspen Grove and furthered their friendship.

After the summer, Aubree started her Freshman year at Brigham Young University. Having a dad as a professor there made it easier for her get accepted, and it cut tuition in half. Her eyesight worsened during the college years, so that she could no longer drive. This was not really an issue though since many college students didn’t have cars and everything needed was within walking distance. In her classes, the main issue was reading the board. She could see paper and books by holding them close. Similar to high school, she resorted to asking her teachers to say what they were writing on the board, or she would ask those next to her what the board said. This was all the help she really needed. She chose to major in Recreational Management, something that matched her fun-loving personality perfectly. During these years the disease remained essentially invisible to others, something she greatly enjoyed, so she could be treated normally. Although not anticipated, she roomed with her cousin Callie, taking my place since I had gotten married. Cousin Callie had SCA7, and she was much further progressed than Aubree, experiencing major balance and vision loss. She needed help walking and seeing, and those around her gladly assisted. Aubree helped her, as did the many other friends whom Callie had made from her previous year at BYU. Aubree and Callie got along very well. They both had funny senses of humors and great personalities. During their two year stint as roommates, they grew extremely close. Together they went hot-tubbing, hosted dance parties, pulled pranks, downed dozens of milk shakes at the nearby Malt Shop, and shared their clothes. Aubree said that she came to greatly care for Callie and cherished her example – one that showed that a person could be truly happy even while having a serious disease.  

Dating was a big part of Aubree’s college experience. She is such a cute and fun girl that she got asked out on dates almost every weekend. She enjoyed all the fun activities and getting to know all these different boys. She was even known to kiss boys on their first dates. …There is a funny story that she tells of a boy who wanted to take her ice-skating on a first date. Though the disease had not affected her balance to the point that you could notice any issues when walking, she did in reality have bad balance. For example, she could not walk on a beam or run real fast (only jog). As skating requites good balance, it is something she could not do. She tried telling this to the boy without saying she had this disease. He was very persistent though, and he would not take “no” for an answer. She relented and went ice-skating, but she could not stand up on her skates without falling. He helped her onto the ice where she really could not stand at all. The young suitor finally got the point that she really did have bad balance. It was a frustrating experience for Aubree, so on that first date, she did NOT give him a kiss good night! Over the next two years she dated several boys exclusively, but none of the relationships got serious enough to have “the talk” about having this disease. There was one exception, a young man she dated her Sophomore year. She told him, and he seemed to be OK with it. Aubree, however, broke up with him shortly after because our dad thought he lacked sufficient ambition to provide for his daughter. In the end, with so many opportunities to fall in love, getting into a serious relationship is something she tried to avoid. She did not want to put the heavy burden of this disease on anyone else, and so she kept back a bit and hesitated to take the plunge.

After her first Fall and Winter semesters, Aubree and her friend Carrie attended BYU Hawaii for the summer semester. They even persuaded another MAUD squad friend, Jenny, to come with them. When they got to Hawaii, they moved into their apartment (which was right next to the beach), started classes, and landed jobs at the Polynesian Cultural Center. They were living the dream, except Aubree felt that between work and school she did not have enough time to enjoy Hawaii. So she dropped all her classes! In the end, BYU Hawaii did not offer the classes she needed for her major, so she did not feel too bad about it. Now she was able to play a lot more. Her friend Jenny decided to drop her classes too, and Carrie only kept her fun one – Ukulele! They spent everyday the rest of the summer (when not working) swimming in the ocean and riding the bus around the island to explore. It was a magical summer.

Again Aubree wanted to experience all she could, so she jumped at opportunities she had to go to Italy and then to more of Europe during and after her second year of college, respectively. Her friend Carrie’s parents were serving as church mission presidents in Italy, and she planned to visit them during Christmas break. She invited Aubree to go with her. They had a blast touring Europe and enjoying the food. Aubree especially loved the Gelato ice cream. They even skied the Alps during their trip. With Aubree’s balance getting worse, skiing was getting hard, but she was grateful she could at least experience the Alps, even if she had to go slow. The next summer she was able to go to Europe again with my parents and cousins on a Scandinavian cruise. They toured castles in Russia and Switzerland, road a boat up canal streets in the Netherlands, ate Danishes in Denmark and hiked the green hills in Scotland. These trips to Europe (and her summer at Hawaii) cost money, but my parents were willing to help her out because they too wanted her to be able to experience these things while she still had her abilities. They wanted to help her enjoy the life she was given.

The summer before her third year of college is when cousin Lance, Callie’s little brother, passed away. Our family drove down to Arizona for his funeral. Aubree enjoyed spending time with Callie there and remembering Lance’s wonderful life. Aubree tried to persuade Callie to come back to BYU with her, but Callie wanted to stay home with her family. Aubree took a picture with her and Callie at the funeral. Later Aubree showed it to her then boyfriend, and he said, “Hey! Its Calcutta!” (a nickname that had been given to Callie over the last couple of years). Everyone loved Callie and would miss her. Aubree would especially miss not rooming together and not sharing the rest of the college experience.

Aubree lived her Junior year with another cousin, Diane. This was actually their second year as roommates. The previous year Diane lived with Aubree and Callie. Aubree and Diane also grew close over the college years; they would be roommates for two and a half years total. Diane had enjoyed the hot-tubbing, prank pulling, and malt shop trips with Callie and Aubree. She was a great roommate to Aubree. They too shared clothes (more Aubree wearing Diane’s clothes!). Diane plucked Aubree’s eyebrows for her since she could not see them. They played hard together. Once when it rained really hard, they ran around in it, getting drenched. Diane majored in Dance, and Aubree enjoyed going to see her many performances. She really enjoyed her time with Diane. During this school year, Aubree continued to date often. That year she dated two boys seriously, both of whom she told that she had SCA7. The first one was scared by it, and they soon broke up. The second was just fine with it, and Aubree thought she might marry him. After a time though, he ended up breaking up with her. She was a bit hurt by it, but she went on with life and didn’t worry too much about it. Plus, she felt it was probably better if she did not put the burden of this disease on someone else.

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At the beginning of her Senior year, Aubree met Taylor. She and her roommates were going on a trip to Salt Lake City with some boys and their roommates. Taylor was in this group, and he and Aubree really hit it off. They talked with each other the entire hour-long drive there, the whole time they were in Salt Lake City, and the drive home too. They even had their first kiss when he said goodbye to her that night. After this, they saw or talked to each other most every day. They quickly fell in love, and so Aubree had the dreaded talk with him. She told him how she had this disease. She was nervous to tell him because she really liked him. He told her that on his mission, he had some experiences were he learned to have an eternal perspective. He believed that those experiences would help him to deal with something like this disease. This was a great comfort to Aubree. The Lord really did help to lead them together.

While dating, Aubree saw Taylor hug another girl, and she did not like that. She went home angry and told Taylor that it was probably better if they just broke up since she really didn’t want to put the horrible burden of this disease on him anyways. He sent her a text her back saying that he loved her too much to let her go. The two of them really enjoyed each other, and they continued to date and grow closer. For Thanksgiving, Taylor invited Aubree to California to meet his family. Taylor has a large, close-knit family. He is one of seven kids, all boys and one girl. Aubree loved his family and had a lot of fun with them. While there, he took her snorkeling and then had a picnic on the beach. He proposed, and Aubree said, “Yes!” They had a most beautiful wedding in February, the same day as both of their mothers’ birthdays. It was the perfect gift to give them.

After their wedding and honeymoon to an Island resort off of California, they returned to BYU to finish their degrees. Aubree graduated in Recreational Management, something she thoroughly enjoyed. She immediately found a job that summer at the Provo mental hospital, using her degree. She worked there until the end of the summer, and then they moved to California. They lived with Taylor’s parents while he started his career as a high school physics teacher. Life was good and things turned out to be much more wonderful than Aubree ever believed possible. When she first found out in junior high that she had this disease, she knew it would progress much more quickly for her than it did for our mom. She feared that it would make her high school and college experiences very difficult and that she would not be able to get married and have children. Things however turned out to be exceptionally better than she could have ever hoped. Yes, she had to deal with bad eyesight and declining balance, but neither had significantly affected her that much. Others could not really even tell anything was wrong, only if they were looking for it. Her high school and college experiences were rich and full of many wonderful experiences. And now she was very happily married to a wonderful man who loved her and whom she loved very much. You can read about them having their only child, Sam, on the post: Having SCA7 Free Children. Looking back Aubree feels that the Lord has helped her to have an extremely full and wonderful life. He has answered her prayers and those of many others. No, He did not heal her of this disease, but he did help her to feel of His great love, as well as the love of those around her. And this perfect love cast out all her younger years’ fears.

In addition to love, her faith has also helped to push out fear. Aubree strives to live by the advice my dad gave the day our family found out about her having this disease. You need to take this disease one day at a time and enjoy the blessings of that day. That takes faith. Aubree really does not worry or get anxious about the future, and she clearly sees the blessings she enjoys each day. I believe that this is why when I call and ask her how she is doing, she replies, “Good, great, and wonderful!”

…Before telling the rest of Aubree’s story, I will share the first part of my own story and my IVF/PGD experiences in order to have children. So stay tuned for the next two posts about me, myself and I! Haha…I feel like this has been a long time coming.