A genetic diagnosis: Staying course until the light returns
By Macaile Hutt
I started my Idaho Family Magazine journey when the clinic I was working at was given the opportunity to write an article from a therapist’s perspective on how to stay active in the blistering summer heat. I felt so honored and inspired when given the opportunity to write that article, and it helped me re-ignite my passion for writing, community, and creating a safe space to share so many thoughts and feelings that go well beyond the aspects one sees from a superficial perspective.
Today, I felt impressed to sit down and share a little bit about a struggle I’ve experienced, because opening up, sharing and making my struggles transparent has been the single most effective way I’ve found in taking back my control and putting a name to my fears and doubts.
Sometimes just saying it out loud helps me realize that the things I’m experiencing, no matter how dark or how beautiful, are just a part of my story. They don’t define me, they don’t pave the path to my future, and they don’t have to control me any more than I allow them to. Sharing my story and my experiences always leads to someone reaching out and saying something to the effect of “You too? I thought for sure I was the only person who felt that way / experienced that / knew that pain.”
So, here I am, telling my story.
Three years ago I learned that I am a carrier for hemophilia. For those unfamiliar, hemophilia is a bleeding disorder in which a male lacks the clotting factor needed to clot his blood. In the past, this disease was very difficult to manage and often led to “the boy in the bubble” stories, where the person had to refrain from any activities that could cause injury, particularly bleeding. The scary thing about this is that even bumping your arm could cause an internal bone bleed, leading to very serious and even fatal consequences.
My grandfather on my mom’s side died from complications from this disease when my mom was only 19. I knew this about my grandfather, but it had never been a real point of discussion between my mother and myself. I always grew up hearing the best and most wonderful stories about the grandfather I never had a chance to meet, and part of me is thankful that those are the stories I think of when I hear his name and not the horrible disease.
Just over three years ago, I learned about the possibility that I could be a carrier for hemophilia. I found out in a very abrupt and traumatic manner, and I truly felt as though the world I knew had been completely flipped upside down. I found myself consuming research and knowledge and any bit of information I could, oftentimes leading down a scary rabbit hole of feeling helpless, hopeless, and very alone. I completed genetic counseling, had lots of blood panels and tests performed, and eventually received the full write-up confirming that I am, indeed, a carrier for this disease, with mild symptoms that cause me to have difficulty clotting and bleed / bruise more easily than others.
The day I read my confirmed diagnosis, I felt like a stranger inside my own body. I felt betrayed by my own skin and bones. I felt scared and confused and I felt like there were too many unknowns ahead of me. I found myself feeling angry and resentful, placing blame wherever I could in order to avoid the fear and confusion. Simultaneously, I began meeting with specialists and geneticists in order to learn more about what this diagnosis means and how it will impact my life and future. I spoke with my mom and her family members willing to talk with me about their experiences with hemophilia or being what is called an obligate carrier, and I will always be so thankful for the love and support I received from all of my family.
The biggest thing I learned about my diagnosis is that it will impact my choice to have children. Thanks to modern medicine and technology, I have many options once that time in my life comes around. Some of these choices include sex sorting, in which I would only be able to have girls to avoid the spread of hemophilia to my potential son, but also continuing to run the risk of passing on the carrier gene to my future daughters. I can undergo in vitro fertilization in which all eggs would be tested to eliminate the spread of the carrier gene to any of my children. I can adopt. I can choose to have children naturally, with the known risk that I could continue to spread this hidden disease that has lived within my family for years.
These choices brought a whole new ocean of fear and uncertainty when words like “automatic high-risk pregnancy” and “frequent monitoring” and “placenta testing” swirled around me. I felt really frustrated and out of control, particularly because having children is something so important to me. But infertility, difficulty with conceiving, complications in pregnancy, and genetic disorders are all things that are so often not spoken about in our lives’ highlight reels, where we attempt to make life look perfect all the time.
So many people silently struggle without a single person aware of what’s happening in their hearts and homes. And that’s why I choose to share. For the people too scared to share their own stories. For the people sitting in a big puddle of darkness just begging someone to turn on the light. For the people feeling like they have never been more alone while they are surrounded by a million people who could never understand.
I am thankful for the team of specialists here in Boise that has helped to alleviate some of my fears and start giving answers to my many questions. I am thankful for the hope that I discover every single day with every little bit of knowledge I receive.
When I first received my diagnosis, I was sharing this hemophilia journey while in a relationship with a partner by my side, and when that abruptly and painfully ended, I felt like I had been left alone to navigate these rough and scary waters. I felt abandoned. But little by little, I felt strong enough to turn and face this storm alone, and that’s exactly what I’ve done.
It’s been over three years of learning and discovering my own strength. I’m putting one foot in front of the other and finding hope in each new day life brings.
I guess, at the end of the day, that’s why I’m sharing this with all of you. We all have our highlight reels, our best selves, the face that we choose to put out to the world. But behind the scenes and the filters, behind the perfect lighting and the pretty words, there’s sometimes a lot of pain. It can be pretty darn scary.
But once the dust settles and the initial fear subsides and we find courage to reach out toward the thing we are most afraid of, we will often find a lantern in the darkness. When we share our stories, we turn on the light and allow ourselves to see all of the many beautiful people sitting with us in the very same darkness. Sometimes, just knowing we don’t have to sit in the darkness alone is enough.
So here I am. I am here in the darkness, and I will sit with you until the light returns.
Macaile Hutt is an occupational therapist in Boise, as well as a writer and contributor for The Sensory Project. Her therapy style takes a holistic and child-directed approach, with the goal of children succeeding across multiple environments. She holds a master’s degree in occupational therapy from A.T. Still University and has received continuing education in Handwriting Without Tears, pediatric kinesiotaping, Interactive Metronome, and Beckman Oral Motor. She is co-owner of the company Human Code, a candle and retail company with a larger purpose of promoting kindness and generosity. In her free time, she enjoys creative writing, backpacking, and traveling.