Brandon & I are excited to announce we are expecting an Alpers’ free baby in June! We are beyond excited, and of course grateful for this new addition. It’s been a tough road to get here, and we know that Graham was with us every step of the way. As I researched our options and the process available, I tried to find people in similar situations which at times seemed impossible. And even when I did connect with a few women through social media, we all agreed that we felt like most people didn’t understand this process or what it was like for us. I decided to write a post about our experience to hopefully help others who might feel alone in their journey, but also to educate others who are simply unfamiliar with genetic testing and infertility treatments. I must warn you, this is a long post, but I think it’s worth sharing.
The conversation for future children began immediately after the doctors diagnosed Graham with a rare genetic disease. A genetic counselor met with us that day to explain our options for future family planning which seemed rather premature since it was the last thought on our mind as we grasped the reality and severity of Graham’s condition. But what she shared with us did become an important part of our new normal as carriers of a rare disease.
To keep it simple, this is what the genetic counselor explained to us. Brandon & I are carriers of two different variants in the POLG gene that caused Graham’s condition. These mutations cause Alpers’ disease. We know the life expectancy ranges from 3 months to about 10 years, and in our case, Graham passed away 10 weeks after his first symptom, which led doctors to believe the variants we carry are probably more progressive than others. These mutations are recessive, which means the likelihood of a child inheriting these affected genes from us is 25%. Even though 25% may not seem that high of a number, when you think of the severity of the disease we carry, couples like us, who conceive naturally, face a terrible risk.
But there is one process that can reduce the risk to less than 2% called IVF-PGD. Preimplantation genetic diagnosis (PGD) is a procedure used prior to implantation to help identify genetic defects within embryos created through in vitro fertilization (IVF). This prevents certain diseases or disorders from being passed on to the child. IVF-PGD begins with the normal process of IVF that includes egg retrieval and fertilization in a laboratory. PGD involves removing one or two cells from the embryo, then the cells are evaluated to see if there is a problematic gene present in the embryo. Once the PGD procedure has been performed, the embryos free of genetic problems can now be used for a transfer. The optimal accuracy of PGD for a single gene disorder is 98%, which is pretty incredible if you ask me. After doing much research, we decided this was the best fit for our family and began our IVF journey.
I’ll be honest – before this process I knew nothing about IVF except it helped women who could not have children have children. I thought it always worked, I knew it was expensive, but assumed insurance covered it, and had no clue what toll it took on your body. I quickly learned how naïve I was.
We met with our IVF doctor in February of 2017. It was an informal meeting to explain to us the process, to complete the remaining blood work for genetic testing, and discuss the financial cost, which is probably the most overwhelming component, but it is definitely worth every penny if it can spare us the pain we experienced in January. We were told we were ideal candidates for IVF since we conceived Graham naturally without an issues. We left the appointment confident and determined to make this work for us.
The next step involved creating a probe specifically for the genetic mutation Brandon & I carry. Since we were able to send off my DNA, Brandon’s DNA, and even Graham’s DNA, the genetics group was able to create the most accurate test possible. The probe was completed in April and now we could move forward with the IVF process. At this point I discovered IVF treatment or preventative genetic procedures like PGD are not covered by my insurance. I was shocked. After doing more research and investigating, this isn’t unusual. Unfortunately many employers and our lawmakers do not understand the necessity of tests like this for families like ours which is why there is limited coverage. Most families who decide to move forward with IVF for infertility or even genetic purposes have to pay for the treatment out of pocket. I truly believe this is unfair and hope over time this changes. I did my best to educate my employer on the necessity for coverage and was somewhat successful in changing our policy to now provide partial coverage for anyone who wishes to go through infertility treatment, which is amazing! But I did not get coverage for the genetic component. As grateful as I am that some IVF coverage was awarded, I hope as more people like myself share and educate the public about the importance of preventive genetic procedures this changes.
Once coverage went into effect, we were now cleared to begin. June was a whirlwind of appointments, regulating what I ate to help ensure the best egg quality possible, and waiting for my body show it was ready for treatment. After several days of shots, pills, and patches, we were ready for the retrieval on July 4. Our doctor only retrieved 11 mature eggs, which I am thankful for, but we knew the odds were not in our favor in this process, so we hoped for more. As I lay there trying to process the news and in pain from the surgery, I overheard the doctor reveal to another couple who just entered the recovery room that he was able to retrieved 18 eggs from her. I remember feeling jealous and I also remember feeling like a failure. My body failed to produce the number of eggs we hoped for and I didn’t know why. I know it was not a rational thought, but that is the reality of IVF. Women put so much pressure on their bodies to produce a certain result, and when it doesn’t happen, you feel like you failed. It’s awful. To make things even worse, the retrieval hurt. Some women are back on their feet working the next day, but that was not possible for me. It took several days before I felt comfortable just walking around my house, but eventually I started to feel like myself again.
As I my body began to heal, we waited on the results. On July 5, we received the first of many phone calls with results on how many fertilized, if the embryos were growing, etc. My heart broke when I received that first update. Only 4 of our 11 eggs fertilized! We were devastated. We hoped for at least 10 embryos to make it since it would give us the best chance at having at least a few healthy embryos. I had a goal in mind from all my research as to what the best scenario would be and we did not meet it – in fact, we weren’t even close to it. I was also upset by the cost for such disappointing results and I was angry. I was still angry at my body, now I was mad at Brandon’s, and I was frustrated at the situation we were in. It just seemed so unfair. After that phone call, I realized I had two choices – let the darkness in and throw myself a pity party or turn it over to the one who knows my suffering, knows my pain, but also knows the joy in store for us. After a good cry, I chose to pray. I chose to pick myself up and research what our options were and what to do next while waited on the results. We truly needed a miracle for those four embryos to make it Day 5, to survive the biopsy and freeze, and then test chromosomally normal and Alpers’ free. As I’m writing this, I am reminded once again at how many obstacles these little embryos had to face. And what did God do? He showed us His abilities. All four of those embryos made it Day 5 and were rock stars! They all passed the PGS test, which checks for possible chromosome abnormalities. Given my age and the fact this is a rather unnatural process, many embryos that mature are not necessarily chromosomally viable. It was a miracle that all four were healthy! And when it came to last hurdle, the PGD test, we found out of the 4, 3 embryos were viable and 1 was inconclusive. We have 3 possible children! I know that these results were only possible because of God. If you look at science, statistics, or even speak with our doctor, given our Day 1 results, it did not look likely we would have any healthy embryos – let alone 3. We took this as yet another reminder, no matter how far science and technology advance, God plays a HUGE role in making all things possible. Without Him, it is not.
It is now August. It took that long for my body to heal and that long for the results, so now faced the final phase of the IVF process – transferring one of our embryos. Once again I had to prepare my body for the process, eliminate sugar and stress as much as possible and wait for the perfect window to transfer. There were many shots and pills to help with the process, and on September 15 we transferred one perfectly healthy embryo. Despite all the advances and gains in medicine, when it comes to the transfer process it sometimes works, and sometimes it just doesn’t. Our doctor told us upfront for a woman my age, I should expect a 70% chance of a successful transfer. Once again we found ourselves in a situation out of our control. This was in God’s hands – not ours. While waited to see if the embryo “stuck” we tried every old wives tale like eating Brazil nuts, drinking Pom juice, and my favorite – eating french fries from McDonald’s right after the transfer.
We also prayed a lot. A friend shared a set of prayers for the two week wait, which was incredibly helpful. Most of the prayers reminded me to hope in the Lord, that He is for me, and nothing is impossible with God. These reminders were much needed over the next 10 days. On the morning of September 25, I went in for the first blood test to see if I was pregnant. That afternoon my doctor called and shared that my numbers were perfect! I was pregnant! As we celebrated this milestone, we realized we weren’t out of the woods yet. Your numbers must double over the next two days, for the next week, to indicate that it is a viable pregnancy. So every two days, I went back to the office for more blood work, and waited for the results. After another week of tests, we moved forward with an ultrasound to confirm the pregnancy. And then after that, we waited to see heart rate and determine viability. We finally “graduated” from our IVF practice on October 19 successfully pregnant with an Alpers’ free baby!
I share this story not for sympathy, or even praise of our strength. Honestly, I share it so others understand what it might be like for their friends, family, even acquaintances who embark on the IVF or IVF-PGD journey. We are lucky, so incredibly lucky that this worked out for us, but to be honest, it doesn’t always end that way. I did not understand this until I was in the thick of it myself. So I hope our story can educate more people on how beautiful, yet truly tough this process can be. I also share this story so that others who are like us, realize they are not alone. For those families who carry a genetic disease, I hope you realize there is a possibility to have a child who is healthy and free of that disease. And although the road may be difficult, it will be worth it. Once again, my faith is stronger because of experience. My relationship with my husband is deeper than ever. And most importantly, we are expecting an Alpers’ free baby! God is so good!