SCA7 Through My Eyes

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!

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 9^th, 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.

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

 

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.