On April 8, 2013, I posted an article entitled, “How Much Do You Want to Know About Your Unborn Child’s DNA?” I was both shocked and afraid from the responses I got. I was panicked that I had been misinformed about Lynch Syndrome. People shared horror stories that made me extremely scared. Thankfully my sister, a gynecologic oncologist, was able to explain to me that there is more than one strand of the mutation for Lynch Syndrome, and fortunately I have a different strand than the person who was sharing her sad, scary story with me. I was also surprised by how many comments I got from people who thought I was anti-abortion based on my post.
I really believed at the time that I wrote the article that I did not want to do any pre-birth testing for Lynch Syndrome. I also felt like since I wrote the article, I had made my decision and had to stick to it. My sister encouraged me to meet with a doctor who specializes in reproductive medicine to learn more about Preimplantation Genetic Diagnosis (PGD) so that I could make a more informed decision about whether or not to do pre-birth screening.
I will always be grateful to her for encouraging me to do so. Within 10 minutes of discussing Preimplantation Genetic Diagnosis with the doctor, I knew that there was no question about what my husband and I were going to do – we had to do it. My greatest fear about PGD was that if we eliminated Lynch Syndrome, we would be giving our child/children higher chances of other diseases and illnesses. Learning that studies show that the risks for children born from In Vitro Fertilization (IVF) are the same as from natural pregnancies made me feel like PGD was the only option.
How it works (at least for me, in my experience): In order to do PGD, you have to do IVF. For Lynch Syndrome, before starting IVF, geneticists build a probe used to test for it. The probe is built using both partners’ DNA. It can also include the mutation-affected individual’s parents’ (one or both) DNA, which is used to check for allele dropout. (See http://www.preimplantationgeneticdiagnosis.it/issues-associated-with-pgd-for-sgd.htm). Once the probe is built, the individual can use it for multiple cycles. A woman usually starts IVF on day two of her period, and for two to three weeks (give or take), she injects herself with hormones to stimulate the growth of her eggs, and goes for frequent blood tests and ultrasounds to monitor the growth of the follicles and hormone levels. When the reproductive endocrinologist decides the follicles have reached the desired size, the woman injects herself with a trigger. She then goes in for egg retrieval. (See http://ivf.org/treatments/ivf/more-information-on-ivf/). With either frozen sperm or a fresh sample given the day of the retrieval, an embryo(s) is/are then created in the lab. It/they mature for three to five days and are then biopsied. The cells taken from the embryo(s) are then tested for Lynch Syndrome and can be tested for chromosomal abnormalities (if the patient opts for such testing). The healthy embryo(s) are then frozen until the woman/couple is ready for implantation.
In addition to the awesome fact that we will hopefully be eliminating Lynch Syndrome in our lineage, I also am hopefully saving myself a lifetime of anxiety and fear that our child/children has/have cancer. When I wrote the earlier post about not wanting to do PGD, I don’t think I really thought about what it means to be a parent. I wrote about how Lynch Syndrome is not a huge imposition in my life, and that many of my issues are related to the loss I have suffered as a result of it. I underestimated what I go through on a regular basis. A few summers ago I had two cancer scares, and while luckily they were just that, they caused me a lot of stress and expensive, painful procedures. In July of 2014, I had bleeding and had an un-sedated colonoscopy. Thankfully it was not a polyp or tumor, but the fact that I had to do that is not something that a healthy twenty-nine year old would have had to do. Then, that September, I started spotting. I had never had that before and obviously I was concerned. My gynecologic oncologist did not feel we needed to do an endometrial biopsy when I had my bi-annual screening that year, and then when the bleeding started he felt we needed to do one. I was extremely worried about what the results would be. And then, when my husband and I had finally decided it was time to implant, I went to my reproductive endocrinologist for a routine saline sonogram, something that is done before an embryo transfer, and he thought he saw polyps that needed to be surgically removed before we could proceed with the transfer. It was a stressful experience and my mind ran amok – were they cancerous, would I need more surgeries, chemo, would I be able to ever carry a child? My mind was racing with hypothetical horrors and I couldn’t control it. So yes, Lynch Syndrome does seem to be an inconvenience and constant worry in my life. I will do everything in my power to make sure our child/children do/does not have it.
Then there are my own anxiety issues. I cannot imagine how panicked I would have been every time our child/children has/have an abnormal result or illness. I know I would immediately have thought that it has to be cancer (which of course is still possible, but less likely). My constant worrying would be unfair to our child/children and my husband.
I am so thankful to my sister for encouraging me to learn more about PGD. While IVF is a rollercoaster of emotions and discomfort, I would do it a million times over to give our child/children the best chance at a healthy life. I am so grateful to the medical community that it has developed the science and technology to make PGD possible. It is the coolest thing ever that after at least three generations of my family have died as a result of cancers caused by Lynch Syndrome, my husband and I have hopefully ended it in our lineage once and for all.