“For years, I’ve watched Huntington’s disease affect my family, a shadow lurking in the background of my future. Watching my father deal with this cruel, progressive illness, I knew I wanted to be a parent, but I was terrified of passing down that same fate. That’s when I discovered a glimmer of hope: IVF with PGT-M. I decided to take control of my family’s genetic legacy, stepping into a journey of science, faith, and hope to have a healthy child. I hope that this helps even one person to have the confidence to pursue their dream. My journey is unique to me but has aspects that others can relate to. Read on to learn more about my journey.”
Hi everyone, my name is Marissa and I am a 27-year-old mental health therapist, embarking on the journey of single motherhood, by pursuing In Vitro Fertilization (IVF) with Preimplantation Genetic Testing (PGT), on my own. For those who may not know, Huntington’s Disease is a monogenic (the M in PGT-M) dominant disease, which is an inherited disease caused by a mutation in a single gene, the HTT gene. What does this mean for me and others who have this in their family? I’ll get to that in a minute, but first a quick background. My father was diagnosed with Huntington’s Disease in early 2020, but had been experiencing involuntary movements, known as chorea, for 5 years prior to this. He knew that this disease was in his family, that he was at risk, but he did not want to know his result.
My father did not go through the process of genetic testing, which would let him know if he had the gene that caused Huntington’s. Due to not wanting to get tested, my mother and father considered using IVF to have children, which by using a sperm donor, or genetically testing embryos, any children would not be at risk. This would have eliminated the chance that their children would inherit the disease as well. They ultimately decided that it was too expensive, so they decided to have children naturally. Any naturally conceived children, by someone at risk for Huntington’s, even the non-tested parents, have a 50% chance of inheriting the disease as well. Basically, the flip of a coin. So, due to my parent’s decision before we were born, we would have to deal with the excruciating potential reality when we were old enough to understand it fully.
My father passed away from multi organ failure, due to Huntington’s Disease in 2022, at the age of 59. Since the time I was old enough to truly understand HD, I knew that I would pursue IVF with PGTM, as a way to have children who are not at risk for the disease. That I could not put my children through the emotional experiences that I have experienced. I decided I would make it my mission to end the story of Huntington’s in my family. I knew that I was being called to have biological children, which would require IVF with Preimplantation Genetic Testing, in which they take a few cells from the fluid surrounding the fetus, within the created embryos, to test for the mutated HTT gene. I will go more in depth about the intricacies of PGT in another blog post.
The decision to pursue IVF has always been in my future plans, since I was a teenager watching my father deteriorate from the disease, with each passing day. Recent health/life updates have led me to make the decision to start the process immediately, despite having to do this as a single woman, utilizing a sperm donor. At this moment in time, I am finishing up my preconception bloodwork and needed ultrasounds, as well as planning to start the first steps for the genetic testing component in which the process can take a few months. This has been one of the hardest experiences, but also the most rewarding of my life, in the past few months, and it is just going to be more difficult. There are a lot of pieces to consider with doing IVF, from the money aspect to the support system, to the physical experience, and I hope that by documenting my unique experience, others can be helped. I am so excited to be going on this journey and hopefully I get the chance to bring you all along with me.
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