Inherited DYNC1H1: A Mother Shares Her Story of DYNC1H1 in Herself and Her Two Daughters
Author: Jannine Scott
Every day my memory resets and I think I am a normal person. A mum. A daughter, sister, friend.
I forget that I will be constantly interrupted. At every level, no matter how small, I will be interrupted, modified, magnified and ultimately reduced. The interruptions range from leaving my profession due to illness and full time caring responsibilities, to muscle tremors and spasms.
From unshakeable fatigue, to pain that is untreatable. From difficulty breathing, to anxiety about how I'm going to go outside in the Queensland heat. From losing strength in my arms, to wondering when I will be too weak to hug my children anymore.
It's been a few months shy of 30 years since these interruptions abruptly changed my hours and days, my personality and my life outcome.
I was 15 and caught 2 viruses simultaneously. It wasn't as simple as that though. Every part of my function was permanently interrupted. From then on, my parents' money was drained into medical specialists that had no idea what was wrong with me. The two most common symptoms of my illness since then became
- Being told there was nothing wrong with me and
- My experience of continual disease and disability.
To rest between these two spaces as a teenager, into a young adult and then a full adult has created a complex emotional and psychological space where one reality exists for everyone else. But MY reality doesn't exist for them.
I have pushed myself to limits I would never expect or even think safe for other people. All because my illness and disability didn't exist for others in the clinic or in journals. Pushing myself like this has only created faster deterioration and more severe periods of functional shut down. I, however, became a master at hiding my truth. I had too many people tell me my symptoms didn't exist. So I carried on.
Then my babies came. My pregnancies have been the biggest cause of unrelenting deterioration. Worth it because my children are the singular love and joy that make my life beautiful. Then, I thought these interruptions were just a "me" issue.
However, it pained me to accept that my babies didn't seem like other babies. As they grew, the nightmare of being the bearer of a rare and undiagnosed disease became a living beast. Every single part of my daughters’ lives have been interrupted by it. From birth to now.
After years of pediatric specialists, money, time, therapy, and continuously being told "we don't know what's wrong with your daughter." While I fought for someone to see the link between my daughters’ symptoms and my own. The answer "no, you don't present the same."
I never accepted this answer. I knew it had to be linked.
I. Knew. I. Was. Right.
After hard fought advocacy, a genetic test was done for one of my daughters by a health system deeply uninterested in our care. I was given the results over the phone, stating that my daughter has a problem with one of her genes. The gene:
DYNC1H1
This gene was dismissed by the geneticist as causative, but I knew when she said it was linked to neuromuscular disease that it mattered that I knew more. I needed to know more.
With cautious confidence, I considered I might finally have a name for It. DYNC1H1.
This meant I could start researching and approaching researchers, medical specialists, scientists, organizations, grassroots and community groups all over Australia and the world to find out more.
Now with myself and two of my daughters diagnosed, (because I passed it on to my most loved little treasures), the interruptions, the complexities of every day remain and grow, but with some HOPE in the longer term. For my girls at least.
My only focus outside of these.....interruptions.....is to help amazing medical researchers like Dr. Hormos Dafsari, Dr Birk Möller and our brilliantly led DYNC1H1 Association to help discover a treatment and create a cure.
-Jannine Scott, mum to the most wonderful humans, Bethany and Verity.