Two years ago, I went to reconnect with my grandma on my father's side. There I learned that my grandfather had died years ago from Huntington's Disease. I knew nothing about this disease at the time so I went home and began to research. This is when I discovered that HD is a genetic disease that my father had a 50% chance of having. I was pretty upset at the idea that my poor father whom I had just gotten in touch with after 15 years could have this horrible disease. We hadn't spoken much, but there was something about his mannerisms that made me worry that he did in fact have the gene.
I told my closest friends and family about my discovery, and about the bad news... my brother and I had a 25% chance of inheriting the gene as well. I was definitely concerned about this possibility because if my father had this disease, which he very well could have, then I would have a 50% chance of having the gene as well. Those, to me, were not good odds. I didn't feel optimistic, but rather was realistic about the fact that I could have the gene.
For awhile, I set this issue aside and continued to live my life. I wasn't prepared to do anything about my findings just yet. I needed time to think and research the realities of this awful disease. A lot of time went by and finally I knew I needed to get tested. I wanted to start a family and I needed to know if I had the gene so that I wouldn't unknowingly pass it on to my children. That's a thought I cannot bear.
Unfortunately the testing process costs $800 and I was dreading the test. Finding out you have a fatal neurological disease is not something you rush into. I needed to be fully prepared and wrap my head around the idea of having the gene. What would I do if I do have the gene? What would be the next steps? Can I handle it? Can my loved ones handle it?
I was very proactive. I talked to my family and friends and told them all about the disease and the very real possibility that I could have inherited HD. Everyone was hopeful that I didn't have it, however, I told them to prepare themselves just in case. Before I could have the test, I needed to cover my bases. I had to sign up for life insurance at 24 years old. I wouldn't get approved for it later if I had the gene. I also waited until I had health insurance so that I would be protected and it actually covered the initial neurological exam that is part of the testing process. Once I had all my ducks in a row, I had to make the appointment to have my blood drawn.
The uncertainty plagued me. I knew I needed to know, and a little part of me hoped I could get a negative result and move on with my life as planned. But I didn't allow myself to think that way too much. I prefer to prepare for the worst.
On May 7th, 2014 at 4:30 p.m. I went into the office to meet with the doctor who would give me my results. My husband and best friend joined me and I was full of dread. I'm sure we all were.
The doctor told me that I did in fact have the gene for Huntington's Disease and that my CAG repeat was 43. It felt like a slap in the face. I didn't cry. I didn't really have anything to say at all. I immediately began to dread telling this news to my mother. She was not going to take it well. I was sure she hadn't prepared herself well for the possibility that her child could have a fatal disease. And that my brother could very well have it as well. I felt more upset that my loved ones had to deal with this news that I felt for myself. I had been as prepared as I could be. It was a blow for sure and weighs on me every day. But the good news is that it isn't here yet. This disease takes affect sometime around middle age. Hopefully I still have a good 20 years left before things get too bad and I plan to use this time wisely!
First things first, I want to have a child. With this news, I cannot risk having a baby the natural way because there would be a 50% chance that the baby would inherit the gene. This leaves me with two options.
Option 1: Get pregnant naturally and then have the baby tested around 12 weeks for the gene. If the baby has the gene, it must be terminated. For my own personal reasons, this is not an option I want to pursue.
Option 2: Have invitro done. There is a way to take my eggs and the hubby's sperm and create embryos. Then there is a process called preimplantation genetic diagnosis. With PGD they can test the embryos for the gene and then only implant the embryos that are negative for the gene so the baby would not get the gene. Thank God!
This option, however, is very costly. I have yet to get the exact numbers but insurance does not cover most of it if any at all. It will cost $10,000 or more. I do not know how we will come up with that kind of money. And if we don't become pregnant the first time, we will have to pay the $10,000 all over again until it works. Harsh, huh?
All this baby talk deserves another post and will surely get one soon, but this sums up where I am right now. I am planning for the time I have and I am looking to God to comfort me and show me the life he has planned for me. Sometimes the plans you make don't exactly align with God's plan for you. It is in God's hands now and we will see what he has in store for me. There is A LOT of hope for a cure, and it is very likely that scientists will discover a very good treatment before I am gone. There isn't much for treatment at the moment, but they are racing the clock for sure! I am strong and I will be happy despite this, but a bunch of money landing in my lap right now couldn't hurt! :)
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