After the shock of finding out we would have to do IVF to start a family, we made our decision. Never in a million years did I imagine that this was something we would face. With that being said, I am so thankful that my husband is the man he is. He is the most loving, supportive and caring man that I’ve ever known. Evan is my best friend, my soul mate, and truly the center of my entire world! ❤️ Together we can overcome anything.
A couple days after our consultation we contacted the fertility clinic, and informed them that we wanted to move forward. To our surprise, everything started moving very fast. The next day we had a full calendar with dates, instructions and information on the process. We had a meeting to learn about the medications, how to order them and how to use them. It was very overwhelming for me, but Mr. Wonderful was there with a pen in hand and paper to take notes. Just like that, we were on our way to starting our family. Or so we thought…
The clinic sent both of us for a blood draw to test us for the most common genetic disorders. A week after, I had a scheduled phone appointment with a genetic counselor to discuss our results and to go over family history. I was driving to work during this call and everything came back fine from our blood tests. The counselor asked lots of questions about family history, and finally she said, “last question… Does muscular dystrophy run in yours or Evan’s family?” I informed her that my father had been diagnosed with Myotonic Muscular Dystrophy (MMD1), a few years prior, and various other family members have it too. She went on to tell me that I had a 50% chance of having it since my father did, and in turn, our children would have a 50% chance too. Yet again, a bomb was dropped on me and my world came crashing down. I was scared. All I could think was, there is NO way I have Myotonic Muscular Dystrophy. I had completed multiple Ragnar races over the past few years, I was training for a full marathon and I worked out and lifted weights with no issues. She gave me details on getting tested and wished me luck. We postponed our IVF process to get this testing done, not knowing it would take FOREVER! 😩
Just for the record, this is the abbreviated version.. This would take 3 days to read if I included all of the insanity we went through! 😉
The next 3 months were a nightmare dealing with my incompetent doctor and insurance company. I battled with my primary care physician about getting a referral and when I finally did, she ordered the wrong test. I got a normal blood panel. I went back in and let her know and I asked to be sent back for the right test. She then proceeded to tell me I needed prior authorization from my insurance company. I battled that for a month and a half. I finally got it approved (not easily, that’s a whole other story) and had my blood drawn. I waited 21 days to get my results and called to find out they were in!
I logged in and opened my patient portal, only to find it was just the cover page. It said “normal,” but had no details. At the bottom it said “report sent separate.” I did a walk in to pick up the results, I was tired of waiting. I ran into my doctor and I mentioned I wanted the full report. Her response was, “it says normal, you are probably good.” I told her I still wanted to see it all. For 4 days I called back and forth asking them to request the report, since the lab wouldn’t release it directly to me. Finally it got posted.. But only because I was persistent. I read through it and realized that the genes that they need to test for Myotonic dystrophy were not listed. Just the genes for normal muscular dystrophy.
I set an appointment with my doctor to review them and went in. Had I not known what I needed, they would have sent me on my way with inaccurate results. How frustrating!! Lesson learned, you are the only one that can advocate for your own health. Do your research and don’t take a doctor’s word on everything. Thankfully I spoke to a genetic counselor on the phone and she told me exactly what test I needed. The Nurse Practitioner in my doctor’s office was a saving grace and got it all fixed and I would have the correct results in a week. To say the least, that was the longest week of my life.
I was getting my hair colored when I got a call from the Nurse Practitioner. He knew I had been through a lot, so he asked if I wanted results over the phone or to come in. Thinking that I was fine, I asked for the results. Right then another HUGE life bomb was dropped on me. I have MMD1. It took everything in me not to cry right there in the salon. How could that be right? I am healthy, active and have no symptoms. I rushed home after my appointment and cried on my husband’s shoulder, feeling so confused and afraid. His response, “it’s okay babe, we’ve got this. We will figure it all out, and you’re healthy.” All I could think about was that my future children would have a 50% chance of inheriting this, and what did it mean for me down the road? Would I be sick? Would I be a burden to my husband and family? It was all too much to take in. With this news, I knew that it would throw a wrench into our IVF process. After calming down, I called to inform the clinic.
We had been in conversation with the clinic and they let us know that even if I had the disorder, we could test for it! Wow… Science is insane!! They also informed us, the price tag was large, but it was possible. We gathered all of the information, did some research and decided that we still wanted to move forward. It took 8 weeks to create the genetic test, but we now can prevent passing it on. After all of the hell we had experienced over a 6 month span, we finally understood “why.” It is a blessing in disguise that we were not able to get pregnant naturally. We learned that if it was passed on, our child could die before age one. With Myotonic Muscular Dystrophy, it’s not black and white. There are many unknowns. Now, we are grateful, and certain that we are on the right path. I am keeping it in mind… “Nothing worth having comes easy!” ❤️❤️❤️